Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8014000G>A , CM000679.2:g.8014000G>A | GRCh38 |
| NC_000017.10:g.7917318G>A , CM000679.1:g.7917318G>A | GRCh37 |
| NC_000017.9:g.7858043G>A | NCBI36 |
| NG_009092.1:g.16331G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.2384G>A MANE Select | NP_000171.1:p.Arg795Gln |
| ENST00000254854.5:c.2384G>A MANE Select | ENSP00000254854.4:p.Arg795Gln |
| NM_000180.3:c.2384G>A | NP_000171.1:p.Arg795Gln |
| ENST00000254854.4:c.2384G>A | ENSP00000254854.4:p.Arg795Gln |
| XM_011523816.1:c.2384G>A | XP_011522118.1:p.Arg795Gln |