Linked Data
ClinVar Variation Id:
156221
ClinVar RCV Id:
RCV000144242
dbSNP Id:
rs587777741
gnomAD v2:
7-36450671-C-T
gnomAD v3:
7-36411062-C-T
gnomAD v4:
7-36411062-C-T
COSMIC:
COSM4587379
PubMed:
PMID:24676636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36411062C>T , CM000669.2:g.36411062C>T | GRCh38 |
| NC_000007.13:g.36450671C>T , CM000669.1:g.36450671C>T | GRCh37 |
| NC_000007.12:g.36417196C>T | NCBI36 |
| NG_041770.1:g.26260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265748.7:c.1291C>T MANE Select | ENSP00000265748.2:p.Arg431Cys | |
| ENST00000265748.6:c.1291C>T | ENSP00000265748.2:p.Arg431Cys | |
| ENST00000396068.6:c.1291C>T | ENSP00000379380.2:p.Arg431Cys | |
| ENST00000428612.5:c.96+407C>T | ||
| ENST00000441696.5:c.586C>T | ||
| ENST00000452877.5:c.452+358C>T | ||
| ENST00000495714.1:n.434C>T | ||
| NM_001284301.2:c.1291C>T | NP_001271230.1:p.Arg431Cys | |
| NM_001284302.2:c.1291C>T | NP_001271231.1:p.Arg431Cys | |
| NM_018685.4:c.1291C>T | NP_061155.2:p.Arg431Cys | |
| XM_006715746.1:c.1291C>T | XP_006715809.1:p.Arg431Cys | |
| XM_006715747.2:c.1291C>T | XP_006715810.1:p.Arg431Cys | |
| XM_006715746.2:c.1291C>T | XP_006715809.1:p.Arg431Cys | |
| XM_006715747.4:c.1291C>T | XP_006715810.1:p.Arg431Cys | |
| XM_017012354.2:c.1291C>T | XP_016867843.1:p.Arg431Cys | |
| XM_017012355.2:c.1291C>T | XP_016867844.1:p.Arg431Cys | |
| XM_017012356.2:c.1291C>T | XP_016867845.1:p.Arg431Cys | |
| NM_018685.5:c.1291C>T MANE Select | NP_061155.2:p.Arg431Cys | |
| NM_001284301.3:c.1291C>T | NP_001271230.1:p.Arg431Cys | |
| NM_001284302.3:c.1291C>T | NP_001271231.1:p.Arg431Cys |