Linked Data
ClinVar Variation Id:
14557
ClinVar RCV Id:
RCV002051624
dbSNP Id:
rs118203900
gnomAD v4:
1-183228564-C-A
PubMed:
PMID:10951251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183228564C>A , CM000663.2:g.183228564C>A | GRCh38 |
| NC_000001.10:g.183197699C>A , CM000663.1:g.183197699C>A | GRCh37 |
| NC_000001.9:g.181464322C>A | NCBI36 |
| NG_007079.2:g.47301C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.1659C>A MANE Select | ENSP00000264144.4:p.Cys553Ter | |
| ENST00000264144.4:c.1659C>A | ENSP00000264144.4:p.Cys553Ter | |
| ENST00000493293.5:c.1659C>A | ENSP00000432063.1:p.Cys553Ter | |
| NM_005562.2:c.1659C>A | NP_005553.2:p.Cys553Ter | |
| NM_018891.2:c.1659C>A | NP_061486.2:p.Cys553Ter | |
| XM_017001273.2:c.1659C>A | XP_016856762.1:p.Cys553Ter | |
| NM_005562.3:c.1659C>A MANE Select | NP_005553.2:p.Cys553Ter | |
| NM_018891.3:c.1659C>A | NP_061486.2:p.Cys553Ter |