Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763667G>A , CM000674.2:g.57763667G>A | GRCh38 |
| NC_000012.11:g.58157450G>A , CM000674.1:g.58157450G>A | GRCh37 |
| NC_000012.10:g.56443717G>A | NCBI36 |
| NG_007076.1:g.8527C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1357C>T MANE Select | NP_000776.1:p.Arg453Cys |
| ENST00000228606.9:c.1357C>T MANE Select | ENSP00000228606.4:p.Arg453Cys |
| NM_000785.3:c.1357C>T | NP_000776.1:p.Arg453Cys |
| ENST00000228606.8:c.1357C>T | ENSP00000228606.4:p.Arg453Cys |
| ENST00000547344.5:n.1496C>T | |
| ENST00000713544.1:c.1438C>T | ENSP00000518840.1:p.Arg480Cys |
| ENST00000713545.1:c.*362C>T | ENSP00000518841.1:n.*362C>T |