Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11970750G= , CM000663.2:g.11970750G= | GRCh38 |
| NC_000001.10:g.12030807G= , CM000663.1:g.12030807G= | GRCh37 |
| NC_000001.9:g.11953394G= | NCBI36 |
| NG_008159.1:g.41062G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.1836G= MANE Select | NP_000293.2:p.Trp612= |
| ENST00000196061.5:c.1836G= MANE Select | ENSP00000196061.4:p.Trp612= |
| NM_000302.3:c.1836G= | NP_000293.2:p.Trp612= |
| NM_001316320.1:c.1977G= | NP_001303249.1:p.Trp659= |
| NM_001316320.2:c.1977G= | NP_001303249.1:p.Trp659= |
| ENST00000196061.4:c.1836G= | ENSP00000196061.4:p.Trp612= |
| ENST00000491536.5:n.383+3659G= | |
| XM_011541594.1:c.1917G= | XP_011539896.1:p.Trp639= |
| XM_024447707.1:c.1170G= | XP_024303475.1:p.Trp390= |