Linked Data
ClinVar Variation Id:
42041
ClinVar RCV Id:
RCV000034874
dbSNP Id:
rs397514683
gnomAD v4:
11-65869905-G-A
COSMIC:
COSM6070035
PubMed:
PMID:22943132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65869905G>A , CM000673.2:g.65869905G>A | GRCh38 |
| NC_000011.9:g.65637376G>A , CM000673.1:g.65637376G>A | GRCh37 |
| NC_000011.8:g.65393952G>A | NCBI36 |
| NG_012304.2:g.8030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.679C>T MANE Select | ENSP00000309953.6:p.Arg227Cys | |
| ENST00000307998.10:c.679C>T | ENSP00000309953.6:p.Arg227Cys | |
| ENST00000526628.5:n.18C>T | ||
| ENST00000527969.1:n.656C>T | ||
| ENST00000528176.5:c.679C>T | ENSP00000434151.1:p.Arg227Cys | |
| ENST00000531005.5:n.1673C>T | ||
| ENST00000531972.5:c.679C>T | ENSP00000435295.1:p.Arg227Cys | |
| ENST00000533347.5:c.*491C>T | ENSP00000435823.1:n.*491C>T | |
| NM_016938.4:c.679C>T | NP_058634.4:p.Arg227Cys | |
| NR_037718.1:n.938C>T | ||
| NM_016938.5:c.679C>T MANE Select | NP_058634.4:p.Arg227Cys | |
| NR_037718.2:n.804C>T |