Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965571G>A , CM000663.2:g.11965571G>A | GRCh38 |
| NC_000001.10:g.12025628G>A , CM000663.1:g.12025628G>A | GRCh37 |
| NC_000001.9:g.11948215G>A | NCBI36 |
| NG_008159.1:g.35883G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000196061.5:c.1562G>A MANE Select | ENSP00000196061.4:p.Trp521Ter | |
| ENST00000196061.4:c.1562G>A | ENSP00000196061.4:p.Trp521Ter | |
| ENST00000470133.1:n.176G>A | ||
| ENST00000491536.5:n.190G>A | ||
| NM_000302.3:c.1562G>A | NP_000293.2:p.Trp521Ter | |
| NM_001316320.1:c.1703G>A | NP_001303249.1:p.Trp568Ter | |
| XM_011541594.1:c.1643G>A | XP_011539896.1:p.Trp548Ter | |
| XM_024447707.1:c.896G>A | XP_024303475.1:p.Trp299Ter | |
| NM_000302.4:c.1562G>A MANE Select | NP_000293.2:p.Trp521Ter | |
| NM_001316320.2:c.1703G>A | NP_001303249.1:p.Trp568Ter |