Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21594815G>A , CM000668.2:g.21594815G>A | GRCh38 |
| NC_000006.11:g.21595046G>A , CM000668.1:g.21595046G>A | GRCh37 |
| NC_000006.10:g.21703025G>A | NCBI36 |
| NG_029166.1:g.6075G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.281G>A MANE Select | NP_003098.1:p.Gly94Asp |
| ENST00000244745.4:c.281G>A MANE Select | ENSP00000244745.1:p.Gly94Asp |
| NM_003107.2:c.281G>A | NP_003098.1:p.Gly94Asp |
| ENST00000244745.2:c.281G>A | ENSP00000244745.1:p.Gly94Asp |