Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766196A>T , CM000674.2:g.57766196A>T | GRCh38 |
| NC_000012.11:g.58159979A>T , CM000674.1:g.58159979A>T | GRCh37 |
| NC_000012.10:g.56446246A>T | NCBI36 |
| NG_007076.1:g.5998T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.109T>A | ||
| ENST00000713544.1:c.197T>A | ENSP00000518840.1:p.Val66Glu | |
| ENST00000713545.1:c.197T>A | ENSP00000518841.1:p.Val66Glu | |
| ENST00000228606.9:c.197T>A MANE Select | ENSP00000228606.4:p.Val66Glu | |
| ENST00000228606.8:c.197T>A | ENSP00000228606.4:p.Val66Glu | |
| ENST00000546496.1:n.25T>A | ||
| ENST00000546609.1:c.109T>A | ||
| ENST00000547344.5:n.251T>A | ||
| ENST00000552186.1:n.316T>A | ||
| NM_000785.3:c.197T>A | NP_000776.1:p.Val66Glu | |
| NM_000785.4:c.197T>A MANE Select | NP_000776.1:p.Val66Glu |