Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144357C>A , CM000670.2:g.38144357C>A | GRCh38 |
| NC_000008.10:g.38001875C>A , CM000670.1:g.38001875C>A | GRCh37 |
| NC_000008.9:g.38121032C>A | NCBI36 |
| NG_011827.1:g.11726G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.774G>T MANE Select | ENSP00000276449.3:p.Gln258His | |
| ENST00000276449.8:c.774G>T | ENSP00000276449.3:p.Gln258His | |
| ENST00000520114.1:n.2743G>T | ||
| ENST00000522050.1:c.616G>T | ||
| NM_000349.2:c.774G>T | NP_000340.2:p.Gln258His | |
| XM_006716392.1:c.680G>T | XP_006716455.1:p.Arg227Met | |
| NM_000349.3:c.774G>T MANE Select | NP_000340.2:p.Gln258His |