Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766088C>T , CM000674.2:g.57766088C>T | GRCh38 |
| NC_000012.11:g.58159871C>T , CM000674.1:g.58159871C>T | GRCh37 |
| NC_000012.10:g.56446138C>T | NCBI36 |
| NG_007076.1:g.6106G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.217G>A | ||
| ENST00000713544.1:c.305G>A | ENSP00000518840.1:p.Gly102Glu | |
| ENST00000713545.1:c.305G>A | ENSP00000518841.1:p.Gly102Glu | |
| ENST00000228606.9:c.305G>A MANE Select | ENSP00000228606.4:p.Gly102Glu | |
| ENST00000228606.8:c.305G>A | ENSP00000228606.4:p.Gly102Glu | |
| ENST00000546496.1:n.133G>A | ||
| ENST00000546609.1:c.217G>A | ||
| ENST00000547344.5:n.359G>A | ||
| ENST00000552186.1:n.424G>A | ||
| NM_000785.3:c.305G>A | NP_000776.1:p.Gly102Glu | |
| NM_000785.4:c.305G>A MANE Select | NP_000776.1:p.Gly102Glu |