Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255862C>G , CM000669.2:g.255862C>G | GRCh38 |
| NC_000007.13:g.295828C>G , CM000669.1:g.295828C>G | GRCh37 |
| NG_033970.1:g.65498C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1086C>G MANE Select | ENSP00000322323.5:p.Cys362Trp | |
| ENST00000313766.5:c.1086C>G | ENSP00000322323.5:p.Cys362Trp | |
| ENST00000515795.1:n.743C>G | ||
| NM_020223.3:c.1086C>G | NP_064608.2:p.Cys362Trp | |
| XR_242097.3:n.1233C>G | ||
| XM_017012450.1:c.1347C>G | XP_016867939.1:p.Cys449Trp | |
| XM_017012451.1:c.1344C>G | XP_016867940.1:p.Cys448Trp | |
| XM_017012455.2:c.384C>G | XP_016867944.1:p.Cys128Trp | |
| NM_020223.4:c.1086C>G MANE Select | NP_064608.2:p.Cys362Trp |