Identifiers and link-outs to other resources
ClinVar Variation Id:
294526
ClinVar RCV Id:
RCV000276556
dbSNP Id:
rs121913051
ExAC:
1:196716390 C / T
gnomAD:
1:196716390 C / T
COSMIC:
COSM901548
User contributed link-outs
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747260C>T , CM000663.2:g.196747260C>T | GRCh38 |
| NC_000001.10:g.196716390C>T , CM000663.1:g.196716390C>T | GRCh37 |
| NC_000001.9:g.194983013C>T | NCBI36 |
| NG_007259.1:g.100250C>T , LRG_47:g.100250C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000186.3:c.3643C>T , LRG_47t1:c.3643C>T | NP_000177.2:p.Arg1215Ter | |
| XR_001737134.2:n.3829C>T | ||
| NM_000186.4:c.3643C>T VV MANE Preferred | NP_000177.2:p.Arg1215Ter | |
| ENST00000367429.8:c.3643C>T | ENSP00000356399.4:p.Arg1215Ter | |
| ENST00000466229.5:n.6741C>T |