Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288453A>T , CM000683.2:g.44288453A>T | GRCh38 |
| NC_000021.8:g.45708336A>T , CM000683.1:g.45708336A>T | GRCh37 |
| NC_000021.7:g.44532764A>T | NCBI36 |
| NG_009556.1:g.7574A>T , LRG_18:g.7574A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.647A>T MANE Select | ENSP00000291582.5:p.Glu216Val | |
| ENST00000291582.5:c.647A>T | ENSP00000291582.5:p.Glu216Val | |
| ENST00000527919.5:n.1191A>T | ||
| ENST00000530812.5:n.1199A>T | ||
| NM_000383.3:c.647A>T | NP_000374.1:p.Glu216Val | |
| XM_011529551.1:c.647A>T | XP_011527853.1:p.Glu216Val | |
| NM_000383.4:c.647A>T MANE Select | NP_000374.1:p.Glu216Val |