Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766872C>A , CM000674.2:g.57766872C>A | GRCh38 |
| NC_000012.11:g.58160655C>A , CM000674.1:g.58160655C>A | GRCh37 |
| NC_000012.10:g.56446922C>A | NCBI36 |
| NG_007076.1:g.5322G>T | |
| NG_047060.1:g.10260G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.170G>T MANE Select | NP_000776.1:p.Gly57Val |
| ENST00000228606.9:c.170G>T MANE Select | ENSP00000228606.4:p.Gly57Val |
| NM_000785.3:c.170G>T | NP_000776.1:p.Gly57Val |
| ENST00000228606.8:c.170G>T | ENSP00000228606.4:p.Gly57Val |
| ENST00000546609.1:c.108-675G>T | |
| ENST00000546609.2:n.108-675G>T | |
| ENST00000547344.5:n.224G>T | |
| ENST00000713544.1:c.170G>T | ENSP00000518840.1:p.Gly57Val |
| ENST00000713545.1:c.170G>T | ENSP00000518841.1:p.Gly57Val |