Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766019C>A , CM000674.2:g.57766019C>A | GRCh38 |
| NC_000012.11:g.58159802C>A , CM000674.1:g.58159802C>A | GRCh37 |
| NC_000012.10:g.56446069C>A | NCBI36 |
| NG_007076.1:g.6175G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.374G>T MANE Select | NP_000776.1:p.Gly125Val |
| ENST00000228606.9:c.374G>T MANE Select | ENSP00000228606.4:p.Gly125Val |
| NM_000785.3:c.374G>T | NP_000776.1:p.Gly125Val |
| ENST00000228606.8:c.374G>T | ENSP00000228606.4:p.Gly125Val |
| ENST00000546496.1:n.202G>T | |
| ENST00000546609.1:c.286G>T | |
| ENST00000546609.2:n.286G>T | |
| ENST00000547344.5:n.428G>T | |
| ENST00000552186.1:n.493G>T | |
| ENST00000713544.1:c.374G>T | ENSP00000518840.1:p.Gly125Val |
| ENST00000713545.1:c.374G>T | ENSP00000518841.1:p.Gly125Val |