Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916591C>T , CM000663.2:g.119916591C>T | GRCh38 |
| NC_000001.10:g.120459214C>T , CM000663.1:g.120459214C>T | GRCh37 |
| NC_000001.9:g.120260737C>T | NCBI36 |
| NG_008163.1:g.158063G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.6131G>A MANE Select | NP_077719.2:p.Arg2044His |
| ENST00000256646.7:c.6131G>A MANE Select | ENSP00000256646.2:p.Arg2044His |
| NM_024408.3:c.6131G>A | NP_077719.2:p.Arg2044His |
| ENST00000256646.6:c.6131G>A | ENSP00000256646.2:p.Arg2044His |
| XM_005270901.2:c.6014G>A | XP_005270958.1:p.Arg2005His |
| XM_011541519.1:c.6119G>A | XP_011539821.1:p.Arg2040His |
| XM_011541520.1:c.6014G>A | XP_011539822.1:p.Arg2005His |