Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11970750G>T , CM000663.2:g.11970750G>T | GRCh38 |
| NC_000001.10:g.12030807G>T , CM000663.1:g.12030807G>T | GRCh37 |
| NC_000001.9:g.11953394G>T | NCBI36 |
| NG_008159.1:g.41062G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.1836G>T MANE Select | NP_000293.2:p.Trp612Cys |
| ENST00000196061.5:c.1836G>T MANE Select | ENSP00000196061.4:p.Trp612Cys |
| NM_000302.3:c.1836G>T | NP_000293.2:p.Trp612Cys |
| NM_001316320.1:c.1977G>T | NP_001303249.1:p.Trp659Cys |
| NM_001316320.2:c.1977G>T | NP_001303249.1:p.Trp659Cys |
| ENST00000196061.4:c.1836G>T | ENSP00000196061.4:p.Trp612Cys |
| ENST00000491536.5:n.383+3659G>T | |
| XM_011541594.1:c.1917G>T | XP_011539896.1:p.Trp639Cys |
| XM_024447707.1:c.1170G>T | XP_024303475.1:p.Trp390Cys |