Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275186A>T , CM000672.2:g.80275186A>T | GRCh38 |
| NC_000010.10:g.82034942A>T , CM000672.1:g.82034942A>T | GRCh37 |
| NC_000010.9:g.82024922A>T | NCBI36 |
| NG_008083.1:g.19493T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.782T>A MANE Select | ENSP00000361287.3:p.Val261Asp | |
| ENST00000372213.7:c.782T>A | ENSP00000361287.3:p.Val261Asp | |
| ENST00000480845.1:n.14T>A | ||
| ENST00000485270.5:n.294T>A | ||
| NM_000429.2:c.782T>A | NP_000420.1:p.Val261Asp | |
| XM_005269842.3:c.782T>A | XP_005269899.1:p.Val261Asp | |
| XM_005269843.3:c.659T>A | XP_005269900.1:p.Val220Asp | |
| NM_000429.3:c.782T>A MANE Select | NP_000420.1:p.Val261Asp |