Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41361372G>A , CM000682.2:g.41361372G>A | GRCh38 |
| NC_000020.10:g.39990012G>A , CM000682.1:g.39990012G>A | GRCh37 |
| NC_000020.9:g.39423426G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052846.2:c.2197C>T MANE Select | NP_443078.1:p.Arg733Cys |
| ENST00000332312.4:c.2197C>T MANE Select | ENSP00000332806.3:p.Arg733Cys |
| NM_052846.1:c.2197C>T | NP_443078.1:p.Arg733Cys |
| ENST00000332312.3:c.2197C>T | ENSP00000332806.3:p.Arg733Cys |