Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536563T>G , CM000679.2:g.42536563T>G | GRCh38 |
| NC_000017.10:g.40688581T>G , CM000679.1:g.40688581T>G | GRCh37 |
| NC_000017.9:g.37942107T>G | NCBI36 |
| NG_011552.1:g.5631T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000263.4:c.291T>G MANE Select | NP_000254.2:p.Cys97Trp |
| ENST00000225927.7:c.291T>G MANE Select | ENSP00000225927.1:p.Cys97Trp |
| NM_000263.3:c.291T>G | NP_000254.2:p.Cys97Trp |
| ENST00000225927.6:c.291T>G | ENSP00000225927.1:p.Cys97Trp |
| ENST00000586516.5:c.41T>G | |
| ENST00000591587.1:c.34T>G | ENSP00000467836.1:p.Trp12Gly |
| XM_006721920.2:c.-452T>G | XP_006721983.1:n.-452T>G |
| XM_011524840.1:c.-452T>G | XP_011523142.1:n.-452T>G |
| XM_024450771.1:c.291T>G | XP_024306539.1:p.Cys97Trp |