Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766007G>A , CM000674.2:g.57766007G>A | GRCh38 |
| NC_000012.11:g.58159790G>A , CM000674.1:g.58159790G>A | GRCh37 |
| NC_000012.10:g.56446057G>A | NCBI36 |
| NG_007076.1:g.6187C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.386C>T MANE Select | NP_000776.1:p.Ala129Val |
| ENST00000228606.9:c.386C>T MANE Select | ENSP00000228606.4:p.Ala129Val |
| NM_000785.3:c.386C>T | NP_000776.1:p.Ala129Val |
| ENST00000228606.8:c.386C>T | ENSP00000228606.4:p.Ala129Val |
| ENST00000546496.1:n.214C>T | |
| ENST00000546609.1:c.298C>T | |
| ENST00000546609.2:n.298C>T | |
| ENST00000547344.5:n.440C>T | |
| ENST00000552186.1:n.505C>T | |
| ENST00000713544.1:c.386C>T | ENSP00000518840.1:p.Ala129Val |
| ENST00000713545.1:c.386C>T | ENSP00000518841.1:p.Ala129Val |