Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291150A>T , CM000683.2:g.44291150A>T | GRCh38 |
| NC_000021.8:g.45711033A>T , CM000683.1:g.45711033A>T | GRCh37 |
| NC_000021.7:g.44535461A>T | NCBI36 |
| NG_009556.1:g.10271A>T , LRG_18:g.10271A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.935A>T MANE Select | ENSP00000291582.5:p.Asp312Val | |
| ENST00000291582.5:c.935A>T | ENSP00000291582.5:p.Asp312Val | |
| ENST00000337909.5:n.396A>T | ||
| ENST00000397994.8:n.396A>T | ||
| ENST00000527919.5:n.1665A>T | ||
| ENST00000530812.5:n.2682A>T | ||
| NM_000383.3:c.935A>T | NP_000374.1:p.Asp312Val | |
| XM_011529551.1:c.932A>T | XP_011527853.1:p.Asp311Val | |
| NM_000383.4:c.935A>T MANE Select | NP_000374.1:p.Asp312Val |