Linked Data
ClinVar Variation Id:
5039
dbSNP Id:
rs121918547
ExAC:
12:53702942 G / A
gnomAD v2:
12-53702942-G-A
gnomAD v3:
12-53309158-G-A
gnomAD v4:
12-53309158-G-A
COSMIC:
COSM5841374
MyVariant Identifiers:
chr12:g.53702942G>A (hg19)
chr12:g.53702942_53702944delinsAAA (hg19)
chr12:g.53309158G>A (hg38)
PubMed:
PMID:11062474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309158G>A , CM000674.2:g.53309158G>A | GRCh38 |
| NC_000012.11:g.53702942G>A , CM000674.1:g.53702942G>A | GRCh37 |
| NC_000012.10:g.51989209G>A | NCBI36 |
| NG_016775.1:g.17471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.934C>T MANE Select | ENSP00000209873.4:p.Arg312Ter | |
| ENST00000546393.7:n.1779C>T | ||
| ENST00000546562.6:n.1998C>T | ||
| ENST00000547238.6:n.1570C>T | ||
| ENST00000547520.6:n.928C>T | ||
| ENST00000547757.2:c.-18C>T | ENSP00000448020.2:n.-18C>T | |
| ENST00000548880.2:n.1384C>T | ||
| ENST00000548931.6:c.454C>T | ENSP00000457518.1:p.Arg152Ter | |
| ENST00000549450.6:n.868C>T | ||
| ENST00000552161.6:n.1890C>T | ||
| ENST00000672797.1:n.1387C>T | ||
| ENST00000672900.1:n.1732C>T | ||
| ENST00000209873.8:c.934C>T | ENSP00000209873.4:p.Arg312Ter | |
| ENST00000394384.7:c.835C>T | ENSP00000377908.3:p.Arg279Ter | |
| ENST00000546393.6:n.831C>T | ||
| ENST00000546572.1:n.386C>T | ||
| ENST00000547520.5:n.638C>T | ||
| ENST00000547761.6:n.826C>T | ||
| ENST00000548931.5:c.454C>T | ENSP00000457518.1:p.Arg152Ter | |
| ENST00000550033.5:n.189C>T | ||
| ENST00000550286.5:c.562C>T | ENSP00000446885.1:p.Arg188Ter | |
| ENST00000552876.5:n.1277C>T | ||
| NM_001173466.1:c.835C>T | NP_001166937.1:p.Arg279Ter | |
| NM_015665.5:c.934C>T | NP_056480.1:p.Arg312Ter | |
| XM_006719617.2:c.949C>T | XP_006719680.1:p.Arg317Ter | |
| XM_006719619.2:c.949C>T | XP_006719682.1:p.Arg317Ter | |
| XM_011538777.1:c.949C>T | XP_011537079.1:p.Arg317Ter | |
| XM_011538778.1:c.934C>T | XP_011537080.1:p.Arg312Ter | |
| XM_011538779.1:c.850C>T | XP_011537081.1:p.Arg284Ter | |
| XM_011538780.1:c.835C>T | XP_011537082.1:p.Arg279Ter | |
| XM_011538781.1:c.283C>T | XP_011537083.1:p.Arg95Ter | |
| XM_011538778.2:c.934C>T | XP_011537080.1:p.Arg312Ter | |
| XM_011538780.2:c.835C>T | XP_011537082.1:p.Arg279Ter | |
| XR_001748875.2:n.955C>T | ||
| NM_015665.6:c.934C>T MANE Select | NP_056480.1:p.Arg312Ter | |
| NM_001173466.2:c.835C>T | NP_001166937.1:p.Arg279Ter |