Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85480683G>A , CM000670.2:g.85480683G>A | GRCh38 |
| NC_000008.10:g.86392912G>A , CM000670.1:g.86392912G>A | GRCh37 |
| NC_000008.9:g.86580164G>A | NCBI36 |
| NG_007287.1:g.21667G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.677G>A MANE Select | NP_000058.1:p.Arg226His |
| ENST00000285379.10:c.677G>A MANE Select | ENSP00000285379.4:p.Arg226His |
| NM_000067.2:c.677G>A | NP_000058.1:p.Arg226His |
| NM_001293675.1:c.374G>A | NP_001280604.1:p.Arg125His |
| NM_001293675.2:c.374G>A | NP_001280604.1:p.Arg125His |
| ENST00000285379.9:c.677G>A | ENSP00000285379.4:p.Arg226His |
| ENST00000520127.5:c.*264G>A | ENSP00000428443.1:n.*264G>A |