Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564750C>A , CM000684.2:g.36564750C>A | GRCh38 |
| NC_000022.10:g.36960797C>A , CM000684.1:g.36960797C>A | GRCh37 |
| NC_000022.9:g.35290743C>A | NCBI36 |
| NG_031861.1:g.142894G>T | |
| NG_031861.2:g.143109G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.573G>T MANE Select | ENSP00000300105.6:p.Glu191Asp | |
| ENST00000300105.6:c.573G>T | ENSP00000300105.6:p.Glu191Asp | |
| NM_006078.3:c.573G>T | NP_006069.1:p.Glu191Asp | |
| NM_006078.4:c.573G>T | NP_006069.1:p.Glu191Asp | |
| XM_017028531.2:c.315G>T | XP_016884020.1:p.Glu105Asp | |
| NM_001379051.1:c.504G>T | NP_001365980.1:p.Glu168Asp | |
| NM_006078.5:c.573G>T MANE Select | NP_006069.1:p.Glu191Asp | |
| NR_166440.1:n.1939G>T |