Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012035G>A , CM000679.2:g.8012035G>A | GRCh38 |
| NC_000017.10:g.7915353G>A , CM000679.1:g.7915353G>A | GRCh37 |
| NC_000017.9:g.7856078G>A | NCBI36 |
| NG_009092.1:g.14366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1750-109G>A MANE Select | ENSP00000254854.4:n.1750-109G>A | |
| ENST00000254854.4:c.1750-109G>A | ENSP00000254854.4:n.1750-109G>A | |
| NM_000180.3:c.1750-109G>A | NP_000171.1:n.1750-109G>A | |
| XM_011523816.1:c.1750-109G>A | XP_011522118.1:n.1750-109G>A | |
| NM_000180.4:c.1750-109G>A MANE Select | NP_000171.1:n.1750-109G>A |