Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766186G= , CM000674.2:g.57766186G= | GRCh38 |
| NC_000012.11:g.58159969G= , CM000674.1:g.58159969G= | GRCh37 |
| NC_000012.10:g.56446236G= | NCBI36 |
| NG_007076.1:g.6008C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.119C= | ||
| ENST00000713544.1:c.207C= | ENSP00000518840.1:p.Ala69= | |
| ENST00000713545.1:c.207C= | ENSP00000518841.1:p.Ala69= | |
| ENST00000228606.9:c.207C= MANE Select | ENSP00000228606.4:p.Ala69= | |
| ENST00000228606.8:c.207C= | ENSP00000228606.4:p.Ala69= | |
| ENST00000546496.1:n.35C= | ||
| ENST00000546609.1:c.119C= | ||
| ENST00000547344.5:n.261C= | ||
| ENST00000552186.1:n.326C= | ||
| NM_000785.3:c.207C= | NP_000776.1:p.Ala69= | |
| NM_000785.4:c.207C= MANE Select | NP_000776.1:p.Ala69= |