Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765119C= , CM000674.2:g.57765119C= | GRCh38 |
| NC_000012.11:g.58158902C= , CM000674.1:g.58158902C= | GRCh37 |
| NC_000012.10:g.56445169C= | NCBI36 |
| NG_007076.1:g.7075G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.594G= | ||
| ENST00000713544.1:c.763G= | ENSP00000518840.1:p.Val255= | |
| ENST00000713545.1:c.740G= | ENSP00000518841.1:p.Gly247= | |
| ENST00000228606.9:c.682G= MANE Select | ENSP00000228606.4:p.Val228= | |
| ENST00000228606.8:c.682G= | ENSP00000228606.4:p.Val228= | |
| ENST00000546567.5:c.-24G= | ENSP00000449472.1:n.-24G= | |
| ENST00000546609.1:c.594G= | ||
| ENST00000547344.5:n.821G= | ||
| ENST00000547451.1:n.482G= | ||
| NM_000785.3:c.682G= | NP_000776.1:p.Val228= | |
| NM_000785.4:c.682G= MANE Select | NP_000776.1:p.Val228= |