Linked Data
ClinVar Variation Id:
1550953
ClinVar RCV Id:
RCV002192086
dbSNP Id:
rs782330394
ExAC:
X:53459279 A / G
gnomAD v2:
X-53459279-A-G
gnomAD v3:
X-53432331-A-G
gnomAD v4:
X-53432331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432331A>G , CM000685.2:g.53432331A>G | GRCh38 |
| NC_000023.10:g.53459279A>G , CM000685.1:g.53459279A>G | GRCh37 |
| NC_000023.9:g.53476004A>G | NCBI36 |
| NG_008153.1:g.7045T>C , LRG_450:g.7045T>C | |
| NG_033076.2:g.14477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.417T>C | ||
| ENST00000682365.1:n.1608T>C | ||
| ENST00000684251.1:n.117T>C | ||
| ENST00000684503.1:n.438T>C | ||
| ENST00000684692.1:c.273T>C | ENSP00000506792.1:p.Cys91= | |
| ENST00000168216.11:c.273T>C MANE Select | ENSP00000168216.6:p.Cys91= | |
| ENST00000168216.10:c.273T>C | ENSP00000168216.6:p.Cys91= | |
| ENST00000375298.4:c.273T>C | ENSP00000364447.4:p.Cys91= | |
| ENST00000375304.9:c.273T>C | ENSP00000364453.5:p.Cys91= | |
| ENST00000495986.1:n.405T>C | ||
| NM_001037811.2:c.273T>C , LRG_450t2:c.273T>C | NP_001032900.1:p.Cys91= | |
| NM_004493.2:c.273T>C , LRG_450t1:c.273T>C | NP_004484.1:p.Cys91= | |
| NM_004493.3:c.273T>C MANE Select | NP_004484.1:p.Cys91= |