Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764418G>A , CM000674.2:g.57764418G>A | GRCh38 |
| NC_000012.11:g.58158201G>A , CM000674.1:g.58158201G>A | GRCh37 |
| NC_000012.10:g.56444468G>A | NCBI36 |
| NG_007076.1:g.7776C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1177C>T | ENSP00000518840.1:p.Gln393Ter | |
| ENST00000713545.1:c.*101C>T | ENSP00000518841.1:n.*101C>T | |
| ENST00000228606.9:c.1096C>T MANE Select | ENSP00000228606.4:p.Gln366Ter | |
| ENST00000228606.8:c.1096C>T | ENSP00000228606.4:p.Gln366Ter | |
| ENST00000546567.5:c.391C>T | ENSP00000449472.1:p.Gln131Ter | |
| ENST00000547344.5:n.1235C>T | ||
| NM_000785.3:c.1096C>T | NP_000776.1:p.Gln366Ter | |
| NM_000785.4:c.1096C>T MANE Select | NP_000776.1:p.Gln366Ter |