Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44110304G>A , CM000669.2:g.44110304G>A | GRCh38 |
| NC_000007.13:g.44149903G>A , CM000669.1:g.44149903G>A | GRCh37 |
| NC_000007.12:g.44116428G>A | NCBI36 |
| NG_056775.1:g.10985G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.1358G>A MANE Select | NP_001120.3:p.Arg453Gln |
| ENST00000223357.8:c.1358G>A MANE Select | ENSP00000223357.3:p.Arg453Gln |
| NM_001129.4:c.1358G>A | NP_001120.3:p.Arg453Gln |
| ENST00000223357.7:c.1358G>A | ENSP00000223357.3:p.Arg453Gln |
| ENST00000434445.1:c.41G>A | ENSP00000397241.1:p.Arg14Gln |
| XM_011515162.1:c.1280G>A | XP_011513464.1:p.Arg427Gln |