Linked Data
ClinVar Variation Id:
162087
dbSNP Id:
rs672601378
gnomAD v4:
12-13615149-C-T
COSMIC:
COSM430810
PubMed:
PMID:24272827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615149C>T , CM000674.2:g.13615149C>T | GRCh38 |
| NC_000012.11:g.13768083C>T , CM000674.1:g.13768083C>T | GRCh37 |
| NC_000012.10:g.13659350C>T | NCBI36 |
| NG_031854.1:g.369940G>A | |
| NG_031854.2:g.371864G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.1619G>A MANE Select | ENSP00000477455.1:p.Arg540His | |
| ENST00000609686.3:c.1619G>A | ENSP00000477455.1:p.Arg540His | |
| NM_000834.3:c.1619G>A | NP_000825.2:p.Arg540His | |
| XM_011520628.1:c.1619G>A | XP_011518930.1:p.Arg540His | |
| XM_011520629.1:c.1619G>A | XP_011518931.1:p.Arg540His | |
| XM_011520630.1:c.1619G>A | XP_011518932.1:p.Arg540His | |
| XR_931372.1:n.230C>T | ||
| XR_931373.1:n.370C>T | ||
| XR_931374.1:n.169C>T | ||
| NM_000834.4:c.1619G>A | NP_000825.2:p.Arg540His | |
| XM_011520628.2:c.1619G>A | XP_011518930.1:p.Arg540His | |
| XM_011520629.2:c.1619G>A | XP_011518931.1:p.Arg540His | |
| XM_017019219.2:c.1619G>A | XP_016874708.1:p.Arg540His | |
| XR_001749013.1:n.651C>T | ||
| XR_931372.2:n.367C>T | ||
| XR_931373.2:n.509C>T | ||
| NM_000834.5:c.1619G>A MANE Select | NP_000825.2:p.Arg540His |