Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225338G>A , CM000668.2:g.3225338G>A | GRCh38 |
| NC_000006.11:g.3225572G>A , CM000668.1:g.3225572G>A | GRCh37 |
| NC_000006.10:g.3170571G>A | NCBI36 |
| NG_016715.1:g.7397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.751C>T MANE Select | ENSP00000259818.6:p.Arg251Cys | |
| ENST00000680070.1:n.1681C>T | ||
| ENST00000681707.1:n.1578C>T | ||
| ENST00000681757.1:n.1056C>T | ||
| ENST00000259818.7:c.751C>T | ENSP00000259818.6:p.Arg251Cys | |
| ENST00000473006.1:n.868C>T | ||
| NM_178012.4:c.751C>T | NP_821080.1:p.Arg251Cys | |
| XM_011514571.1:c.535C>T | XP_011512873.1:p.Arg179Cys | |
| NM_178012.5:c.751C>T MANE Select | NP_821080.1:p.Arg251Cys |