chr9:133748367:T>C Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,748,367-133,748,367
hg38 chr9:130,872,980-130,872,980 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.1028T>C NP_005148.2:p.Met343Thr
NM_007313.2:c.1085T>C NP_009297.2:p.Met362Thr
Ensemble ENST00000318560.6:c.1028T>C ENST00000318560.6:p.Met343Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 189980 OMIM
HGNC 76 HGNC
Ensembl ENSG00000097007 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Axitinib D Predictive Supports Resistance Somatic 2 25686603 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr9:133,748,367-133,748,367
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
M343T
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1524
Genome browser