Linked Data
dbSNP Id:
rs769692294
ExAC:
15:42693849 G / C
gnomAD v2:
15-42693849-G-C
gnomAD v3:
15-42401651-G-C
gnomAD v4:
15-42401651-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42401651G>C , CM000677.2:g.42401651G>C | GRCh38 |
| NC_000015.9:g.42693849G>C , CM000677.1:g.42693849G>C | GRCh37 |
| NC_000015.8:g.40481141G>C | NCBI36 |
| NG_008660.1:g.58549G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1221G>C | ENSP00000183936.4:p.Trp407Cys | |
| ENST00000357568.8:c.1365G>C | ENSP00000350181.3:p.Trp455Cys | |
| ENST00000397163.8:c.1365G>C MANE Select | ENSP00000380349.3:p.Trp455Cys | |
| ENST00000466369.5:n.1874G>C | ||
| ENST00000483208.5:n.1596G>C | ||
| ENST00000495723.1:n.1596G>C | ||
| ENST00000549793.5:n.1596G>C | ||
| ENST00000638141.2:n.1236G>C | ||
| ENST00000673705.1:c.309+1999G>C | ENSP00000501021.1:n.309+1999G>C | |
| ENST00000318023.11:c.1221G>C | ENSP00000326281.8:p.Trp407Cys | |
| ENST00000349748.7:c.1221G>C | ENSP00000183936.4:p.Trp407Cys | |
| ENST00000357568.7:c.1365G>C | ENSP00000350181.3:p.Trp455Cys | |
| ENST00000397163.7:c.1365G>C | ENSP00000380349.3:p.Trp455Cys | |
| NM_000070.2:c.1365G>C | NP_000061.1:p.Trp455Cys | |
| NM_024344.1:c.1365G>C | NP_077320.1:p.Trp455Cys | |
| NM_173087.1:c.1221G>C | NP_775110.1:p.Trp407Cys | |
| NM_000070.3:c.1365G>C MANE Select | NP_000061.1:p.Trp455Cys | |
| NM_024344.2:c.1365G>C | NP_077320.1:p.Trp455Cys | |
| NM_173087.2:c.1221G>C | NP_775110.1:p.Trp407Cys |