Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26201405G>A , CM000663.2:g.26201405G>A | GRCh38 |
| NC_000001.10:g.26527896G>A , CM000663.1:g.26527896G>A | GRCh37 |
| NC_000001.9:g.26400483G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456354.7:c.1251G>A MANE Select | ENSP00000390423.3:p.Glu417= | |
| ENST00000338855.6:c.1251G>A | ENSP00000341006.2:p.Glu417= | |
| ENST00000456354.6:c.1251G>A | ENSP00000390423.2:p.Glu417= | |
| ENST00000518899.5:c.1237G>A | ENSP00000429464.1:n.1237G>A | |
| ENST00000611853.1:c.*82G>A | ENSP00000477936.1:n.*82G>A | |
| NM_198137.1:c.1251G>A | NP_937770.1:p.Glu417= | |
| XM_011541432.1:c.*86G>A | XP_011539734.1:n.*86G>A | |
| XM_011541432.3:c.*86G>A | XP_011539734.1:n.*86G>A | |
| NM_198137.2:c.1251G>A MANE Select | NP_937770.1:p.Glu417= |