Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144316C>T , CM000670.2:g.38144316C>T | GRCh38 |
| NC_000008.10:g.38001834C>T , CM000670.1:g.38001834C>T | GRCh37 |
| NC_000008.9:g.38120991C>T | NCBI36 |
| NG_011827.1:g.11767G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.815G>A MANE Select | NP_000340.2:p.Arg272His |
| ENST00000276449.9:c.815G>A MANE Select | ENSP00000276449.3:p.Arg272His |
| NM_000349.2:c.815G>A | NP_000340.2:p.Arg272His |
| ENST00000276449.8:c.815G>A | ENSP00000276449.3:p.Arg272His |
| ENST00000520114.1:n.2784G>A | |
| ENST00000522050.1:c.657G>A | |
| XM_006716392.1:c.721G>A | XP_006716455.1:p.Ala241Thr |