Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991662G>C , CM000679.2:g.49991662G>C | GRCh38 |
| NC_000017.10:g.48069026G>C , CM000679.1:g.48069026G>C | GRCh37 |
| NC_000017.9:g.45424025G>C | NCBI36 |
| NG_023063.1:g.8563C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005220.3:c.719C>G MANE Select | NP_005211.1:p.Ser240Cys |
| ENST00000434704.2:c.719C>G MANE Select | ENSP00000389870.2:p.Ser240Cys |
| NM_005220.2:c.719C>G | NP_005211.1:p.Ser240Cys |
| ENST00000512495.2:c.359C>G | ENSP00000449976.1:p.Ser120Cys |
| XM_011524458.1:c.516+1738C>G | XP_011522760.1:n.516+1738C>G |