Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564819G>T , CM000684.2:g.36564819G>T | GRCh38 |
| NC_000022.10:g.36960866G>T , CM000684.1:g.36960866G>T | GRCh37 |
| NC_000022.9:g.35290812G>T | NCBI36 |
| NG_031861.1:g.142825C>A | |
| NG_031861.2:g.143040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.504C>A MANE Select | ENSP00000300105.6:p.Asp168Glu | |
| ENST00000300105.6:c.504C>A | ENSP00000300105.6:p.Asp168Glu | |
| NM_006078.3:c.504C>A | NP_006069.1:p.Asp168Glu | |
| NM_006078.4:c.504C>A | NP_006069.1:p.Asp168Glu | |
| XM_017028531.2:c.246C>A | XP_016884020.1:p.Asp82Glu | |
| NM_001379051.1:c.435C>A | NP_001365980.1:p.Asp145Glu | |
| NM_006078.5:c.504C>A MANE Select | NP_006069.1:p.Asp168Glu | |
| NR_166440.1:n.1870C>A |