Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154029C>T , CM000668.2:g.3154029C>T | GRCh38 |
| NC_000006.11:g.3154263C>T , CM000668.1:g.3154263C>T | GRCh37 |
| NC_000006.10:g.3099262C>T | NCBI36 |
| NG_042223.1:g.8521G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.1172G>A MANE Select | NP_001060.1:p.Arg391His |
| ENST00000333628.4:c.1172G>A MANE Select | ENSP00000369703.2:p.Arg391His |
| NM_001069.2:c.1172G>A | NP_001060.1:p.Arg391His |
| NM_001310315.1:c.917G>A | NP_001297244.1:p.Arg306His |
| NM_001310315.2:c.917G>A | NP_001297244.1:p.Arg306His |
| ENST00000333628.3:c.1172G>A | ENSP00000369703.2:p.Arg391His |
| ENST00000679400.1:n.1228G>A | |
| ENST00000679907.1:n.1560G>A | |
| ENST00000680036.1:n.1954G>A | |
| ENST00000680967.1:n.2262G>A |