Linked Data
ClinVar Variation Id:
1916198
ClinVar RCV Id:
RCV002594400
dbSNP Id:
rs777887467
ExAC:
1:94473802 G / A
gnomAD v2:
1-94473802-G-A
gnomAD v3:
1-94008246-G-A
gnomAD v4:
1-94008246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008246G>A , CM000663.2:g.94008246G>A | GRCh38 |
| NC_000001.10:g.94473802G>A , CM000663.1:g.94473802G>A | GRCh37 |
| NC_000001.9:g.94246390G>A | NCBI36 |
| NG_009073.1:g.117904C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5887C>T MANE Select | ENSP00000359245.3:p.Arg1963Cys | |
| ENST00000370225.3:c.5887C>T | ENSP00000359245.3:p.Arg1963Cys | |
| ENST00000465352.1:n.303C>T | ||
| ENST00000536513.5:c.2263C>T | ENSP00000439707.2:p.Arg755Cys | |
| NM_000350.2:c.5887C>T | NP_000341.2:p.Arg1963Cys | |
| NM_000350.3:c.5887C>T MANE Select | NP_000341.2:p.Arg1963Cys |