Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991699G>A , CM000679.2:g.49991699G>A | GRCh38 |
| NC_000017.10:g.48069063G>A , CM000679.1:g.48069063G>A | GRCh37 |
| NC_000017.9:g.45424062G>A | NCBI36 |
| NG_023063.1:g.8526C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005220.3:c.682C>T MANE Select | NP_005211.1:p.Arg228Cys |
| ENST00000434704.2:c.682C>T MANE Select | ENSP00000389870.2:p.Arg228Cys |
| NM_005220.2:c.682C>T | NP_005211.1:p.Arg228Cys |
| ENST00000512495.2:c.322C>T | ENSP00000449976.1:p.Arg108Cys |
| XM_011524458.1:c.516+1701C>T | XP_011522760.1:n.516+1701C>T |