Revel Score:
ENST00000280362 (MANE Select)
0.812
ENST00000524931
0.812
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233464A>G , CM000673.2:g.112233464A>G | GRCh38 |
| NC_000011.9:g.112104187A>G , CM000673.1:g.112104187A>G | GRCh37 |
| NC_000011.8:g.111609397A>G | NCBI36 |
| NG_008743.1:g.12100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.347A>G MANE Select | ENSP00000280362.3:p.Asp116Gly | |
| ENST00000280362.7:c.347A>G | ENSP00000280362.3:p.Asp116Gly | |
| ENST00000524931.1:c.143A>G | ENSP00000434688.1:p.Asp48Gly | |
| ENST00000525803.1:c.*81A>G | ENSP00000431750.1:n.*81A>G | |
| ENST00000527428.5:n.488+231A>G | ||
| ENST00000527635.1:n.388A>G | ||
| ENST00000528679.5:c.*156A>G | ENSP00000435895.1:n.*156A>G | |
| ENST00000531673.5:c.*123+231A>G | ENSP00000433469.1:n.*123+231A>G | |
| NM_000317.2:c.347A>G | NP_000308.1:p.Asp116Gly | |
| XM_011542943.1:c.308A>G | XP_011541245.1:p.Asp103Gly | |
| NM_000317.3:c.347A>G MANE Select | NP_000308.1:p.Asp116Gly |