Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765033G= , CM000674.2:g.57765033G= | GRCh38 |
| NC_000012.11:g.58158816G= , CM000674.1:g.58158816G= | GRCh37 |
| NC_000012.10:g.56445083G= | NCBI36 |
| NG_007076.1:g.7161C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.680C= | ||
| ENST00000713544.1:c.849C= | ENSP00000518840.1:p.Asp283= | |
| ENST00000713545.1:c.826C= | ENSP00000518841.1:p.Leu276= | |
| ENST00000228606.9:c.768C= MANE Select | ENSP00000228606.4:p.Asp256= | |
| ENST00000228606.8:c.768C= | ENSP00000228606.4:p.Asp256= | |
| ENST00000546567.5:c.63C= | ENSP00000449472.1:p.Asp21= | |
| ENST00000546609.1:c.680C= | ||
| ENST00000547344.5:n.907C= | ||
| ENST00000547451.1:n.568C= | ||
| NM_000785.3:c.768C= | NP_000776.1:p.Asp256= | |
| NM_000785.4:c.768C= MANE Select | NP_000776.1:p.Asp256= |