Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455844C>A , CM000679.2:g.7455844C>A | GRCh38 |
| NC_000017.10:g.7359163C>A , CM000679.1:g.7359163C>A | GRCh37 |
| NC_000017.9:g.7299887C>A | NCBI36 |
| NG_008026.1:g.15758C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000747.3:c.1268C>A MANE Select | NP_000738.2:p.Pro423Gln |
| ENST00000306071.7:c.1268C>A MANE Select | ENSP00000304290.2:p.Pro423Gln |
| NM_000747.2:c.1268C>A | NP_000738.2:p.Pro423Gln |
| ENST00000306071.6:c.1268C>A | ENSP00000304290.2:p.Pro423Gln |
| ENST00000536404.6:c.1052C>A | ENSP00000439209.2:p.Pro351Gln |
| ENST00000570557.5:c.931C>A | |
| ENST00000575379.1:c.-125C>A | ENSP00000461751.1:n.-125C>A |
| ENST00000576360.1:c.905C>A | ENSP00000459092.1:p.Pro302Gln |