Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287028A>G , CM000683.2:g.44287028A>G | GRCh38 |
| NC_000021.8:g.45706911A>G , CM000683.1:g.45706911A>G | GRCh37 |
| NC_000021.7:g.44531339A>G | NCBI36 |
| NG_009556.1:g.6149A>G , LRG_18:g.6149A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.358A>G MANE Select | ENSP00000291582.5:p.Lys120Glu | |
| ENST00000291582.5:c.358A>G | ENSP00000291582.5:p.Lys120Glu | |
| ENST00000527919.5:n.519A>G | ||
| ENST00000530812.5:n.527A>G | ||
| NM_000383.3:c.358A>G | NP_000374.1:p.Lys120Glu | |
| XM_011529551.1:c.358A>G | XP_011527853.1:p.Lys120Glu | |
| NM_000383.4:c.358A>G MANE Select | NP_000374.1:p.Lys120Glu |