Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99982826G>A , CM000675.2:g.99982826G>A | GRCh38 |
| NC_000013.10:g.100635080G>A , CM000675.1:g.100635080G>A | GRCh37 |
| NC_000013.9:g.99433081G>A | NCBI36 |
| NG_007085.2:g.5762G>A | |
| NG_007085.3:g.6071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.762G>A MANE Select | ENSP00000365514.3:p.Gln254= | |
| ENST00000376335.7:c.762G>A | ENSP00000365514.3:p.Gln254= | |
| ENST00000620342.1:c.759G>A | ENSP00000481510.1:p.Gln253= | |
| NM_007129.3:c.762G>A | NP_009060.2:p.Gln254= | |
| XM_011521110.1:c.762G>A | XP_011519412.1:p.Gln254= | |
| NM_007129.4:c.762G>A | NP_009060.2:p.Gln254= | |
| NM_007129.5:c.762G>A MANE Select | NP_009060.2:p.Gln254= |