Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218434G>A , CM000671.2:g.99218434G>A | GRCh38 |
| NC_000009.11:g.101980716G>A , CM000671.1:g.101980716G>A | GRCh37 |
| NC_000009.10:g.101020537G>A | NCBI36 |
| NG_008928.1:g.8531C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.751C>T MANE Select | NP_149078.1:p.Arg251Cys |
| ENST00000476832.2:c.751C>T MANE Select | ENSP00000417764.1:p.Arg251Cys |
| NM_033087.3:c.751C>T | NP_149078.1:p.Arg251Cys |
| NR_024532.1:n.980C>T | |
| NR_024532.2:n.958C>T | |
| ENST00000238477.5:c.*493C>T | ENSP00000432675.2:n.*493C>T |
| ENST00000319033.7:c.472C>T | ENSP00000326609.6:p.Arg158Cys |
| ENST00000476832.1:c.751C>T | ENSP00000417764.1:p.Arg251Cys |