Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765112A= , CM000674.2:g.57765112A= | GRCh38 |
| NC_000012.11:g.58158895A= , CM000674.1:g.58158895A= | GRCh37 |
| NC_000012.10:g.56445162A= | NCBI36 |
| NG_007076.1:g.7082T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.601T= | ||
| ENST00000713544.1:c.770T= | ENSP00000518840.1:p.Val257= | |
| ENST00000713545.1:c.747T= | ENSP00000518841.1:p.Cys249= | |
| ENST00000228606.9:c.689T= MANE Select | ENSP00000228606.4:p.Val230= | |
| ENST00000228606.8:c.689T= | ENSP00000228606.4:p.Val230= | |
| ENST00000546567.5:c.-17T= | ENSP00000449472.1:n.-17T= | |
| ENST00000546609.1:c.601T= | ||
| ENST00000547344.5:n.828T= | ||
| ENST00000547451.1:n.489T= | ||
| NM_000785.3:c.689T= | NP_000776.1:p.Val230= | |
| NM_000785.4:c.689T= MANE Select | NP_000776.1:p.Val230= |