Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965571G= , CM000663.2:g.11965571G= | GRCh38 |
| NC_000001.10:g.12025628G= , CM000663.1:g.12025628G= | GRCh37 |
| NC_000001.9:g.11948215G= | NCBI36 |
| NG_008159.1:g.35883G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.1562G= MANE Select | NP_000293.2:p.Trp521= |
| ENST00000196061.5:c.1562G= MANE Select | ENSP00000196061.4:p.Trp521= |
| NM_000302.3:c.1562G= | NP_000293.2:p.Trp521= |
| NM_001316320.1:c.1703G= | NP_001303249.1:p.Trp568= |
| NM_001316320.2:c.1703G= | NP_001303249.1:p.Trp568= |
| ENST00000196061.4:c.1562G= | ENSP00000196061.4:p.Trp521= |
| ENST00000470133.1:n.176G= | |
| ENST00000491536.5:n.190G= | |
| XM_011541594.1:c.1643G= | XP_011539896.1:p.Trp548= |
| XM_024447707.1:c.896G= | XP_024303475.1:p.Trp299= |