Linked Data
ClinVar Variation Id:
225846
ClinVar RCV Id:
RCV000211058
dbSNP Id:
rs875989788
gnomAD v4:
1-100539839-C-A
PubMed:
PMID:27123486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539839C>A , CM000663.2:g.100539839C>A | GRCh38 |
| NC_000001.10:g.101005395C>A , CM000663.1:g.101005395C>A | GRCh37 |
| NC_000001.9:g.100777983C>A | NCBI36 |
| NG_053134.1:g.6668C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315033.5:c.873C>A MANE Select | ENSP00000314223.4:p.Cys291Ter | |
| ENST00000315033.4:c.873C>A | ENSP00000314223.4:p.Cys291Ter | |
| NM_022049.2:c.873C>A | NP_071332.2:p.Cys291Ter | |
| NM_022049.3:c.873C>A MANE Select | NP_071332.2:p.Cys291Ter |