Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586647C>T , CM000679.2:g.41586647C>T | GRCh38 |
| NC_000017.10:g.39742899C>T , CM000679.1:g.39742899C>T | GRCh37 |
| NC_000017.9:g.36996425C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.188G>A MANE Select | NP_000517.3:p.Cys63Tyr |
| ENST00000167586.7:c.188G>A MANE Select | ENSP00000167586.6:p.Cys63Tyr |
| ENST00000167586.6:c.188G>A | ENSP00000167586.6:p.Cys63Tyr |