Linked Data
ClinVar Variation Id:
1030865
ClinVar RCV Id:
RCV001332545
dbSNP Id:
rs1302101551
gnomAD v4:
20-46011737-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011737C>A , CM000682.2:g.46011737C>A | GRCh38 |
| NC_000020.10:g.44640376C>A , CM000682.1:g.44640376C>A | GRCh37 |
| NC_000020.9:g.44073783C>A | NCBI36 |
| NG_011468.1:g.7830C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.987C>A MANE Select | ENSP00000361405.3:p.Cys329Ter | |
| NM_004994.2:c.987C>A | NP_004985.2:p.Cys329Ter | |
| NM_004994.3:c.987C>A MANE Select | NP_004985.2:p.Cys329Ter |