Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764488T= , CM000674.2:g.57764488T= | GRCh38 |
| NC_000012.11:g.58158271T= , CM000674.1:g.58158271T= | GRCh37 |
| NC_000012.10:g.56444538T= | NCBI36 |
| NG_007076.1:g.7706A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1107A= | ENSP00000518840.1:p.Ala369= | |
| ENST00000713545.1:c.*31A= | ENSP00000518841.1:n.*31A= | |
| ENST00000228606.9:c.1026A= MANE Select | ENSP00000228606.4:p.Ala342= | |
| ENST00000228606.8:c.1026A= | ENSP00000228606.4:p.Ala342= | |
| ENST00000546567.5:c.321A= | ENSP00000449472.1:p.Ala107= | |
| ENST00000547344.5:n.1165A= | ||
| NM_000785.3:c.1026A= | NP_000776.1:p.Ala342= | |
| NM_000785.4:c.1026A= MANE Select | NP_000776.1:p.Ala342= |