Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100694874G>A , CM000665.2:g.100694874G>A | GRCh38 |
| NC_000003.11:g.100413718G>A , CM000665.1:g.100413718G>A | GRCh37 |
| NC_000003.10:g.101896408G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032787.3:c.2267G>A MANE Select | NP_116176.2:p.Arg756His |
| ENST00000273352.8:c.2267G>A MANE Select | ENSP00000273352.3:p.Arg756His |
| NM_001308362.1:c.1382G>A | NP_001295291.1:p.Arg461His |
| NM_032787.2:c.2267G>A | NP_116176.2:p.Arg756His |
| ENST00000273352.7:c.2267G>A | ENSP00000273352.3:p.Arg756His |
| ENST00000475887.1:c.1382G>A | ENSP00000419788.1:p.Arg461His |
| ENST00000481506.1:n.1527G>A | |
| XM_011513245.1:c.1862G>A | XP_011511547.1:p.Arg621His |
| XM_011513245.2:c.1862G>A | XP_011511547.1:p.Arg621His |