Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454491A= , CM000679.2:g.7454491A= | GRCh38 |
| NC_000017.10:g.7357810A= , CM000679.1:g.7357810A= | GRCh37 |
| NC_000017.9:g.7298534A= | NCBI36 |
| NG_008026.1:g.14405A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1015A= MANE Select | ENSP00000304290.2:p.Thr339= | |
| ENST00000306071.6:c.1015A= | ENSP00000304290.2:p.Thr339= | |
| ENST00000536404.6:c.799A= | ENSP00000439209.2:p.Thr267= | |
| ENST00000570557.5:c.678A= | ||
| ENST00000573209.1:n.1959A= | ||
| ENST00000576360.1:c.652A= | ENSP00000459092.1:p.Thr218= | |
| NM_000747.2:c.1015A= | NP_000738.2:p.Thr339= | |
| NM_000747.3:c.1015A= MANE Select | NP_000738.2:p.Thr339= |