Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454361T= , CM000679.2:g.7454361T= | GRCh38 |
| NC_000017.10:g.7357680T= , CM000679.1:g.7357680T= | GRCh37 |
| NC_000017.9:g.7298404T= | NCBI36 |
| NG_008026.1:g.14275T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.885T= MANE Select | ENSP00000304290.2:p.Ala295= | |
| ENST00000306071.6:c.885T= | ENSP00000304290.2:p.Ala295= | |
| ENST00000536404.6:c.669T= | ENSP00000439209.2:p.Ala223= | |
| ENST00000570557.5:c.548T= | ||
| ENST00000573209.1:n.1829T= | ||
| ENST00000576360.1:c.605-83T= | ENSP00000459092.1:n.605-83T= | |
| NM_000747.2:c.885T= | NP_000738.2:p.Ala295= | |
| NM_000747.3:c.885T= MANE Select | NP_000738.2:p.Ala295= |