Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151573432G>A , CM000668.2:g.151573432G>A | GRCh38 |
| NC_000006.11:g.151894567G>A , CM000668.1:g.151894567G>A | GRCh37 |
| NC_000006.10:g.151936260G>A | NCBI36 |
| NG_021198.1:g.84393G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025059.4:c.1033G>A MANE Select | NP_079335.2:p.Glu345Lys |
| ENST00000239374.8:c.1033G>A MANE Select | ENSP00000239374.6:p.Glu345Lys |
| NM_025059.3:c.1033G>A | NP_079335.2:p.Glu345Lys |
| ENST00000239374.7:c.1033G>A | ENSP00000239374.6:p.Glu345Lys |
| XM_011536147.1:c.1051G>A | XP_011534449.1:p.Glu351Lys |
| XM_011536147.2:c.1051G>A | XP_011534449.1:p.Glu351Lys |
| XM_011536148.1:c.1051G>A | XP_011534450.1:p.Glu351Lys |
| XM_011536148.2:c.1051G>A | XP_011534450.1:p.Glu351Lys |