| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517691G>A , CM000674.2:g.52517691G>A | GRCh38 |
| NC_000012.11:g.52911475G>A , CM000674.1:g.52911475G>A | GRCh37 |
| NC_000012.10:g.51197742G>A | NCBI36 |
| NG_008297.1:g.7769C>T |
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.991C>T MANE Select | NP_000415.2:p.Arg331Cys |
| ENST00000252242.9:c.991C>T MANE Select | ENSP00000252242.4:p.Arg331Cys |
| NM_000424.3:c.991C>T | NP_000415.2:p.Arg331Cys |
| ENST00000252242.8:c.991C>T | ENSP00000252242.4:p.Arg331Cys |
| ENST00000547890.5:n.120C>T | |
| ENST00000548409.5:c.113C>T | |
| ENST00000549511.5:n.198C>T | |
| ENST00000551013.1:n.629C>T | |
| ENST00000551188.5:c.434C>T | |
| ENST00000552629.5:n.1089C>T |