Revel Score:
ENST00000280362 (MANE Select)
0.817
ENST00000524931
0.817
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008834 (EAS)
Genomes Max Group AF
0.00006818 (EAS)
Exomes Max Group AF
0.00006512 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233205G>A , CM000673.2:g.112233205G>A | GRCh38 |
| NC_000011.9:g.112103928G>A , CM000673.1:g.112103928G>A | GRCh37 |
| NC_000011.8:g.111609138G>A | NCBI36 |
| NG_008743.1:g.11841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.286G>A MANE Select | ENSP00000280362.3:p.Asp96Asn | |
| ENST00000280362.7:c.286G>A | ENSP00000280362.3:p.Asp96Asn | |
| ENST00000524931.1:c.82G>A | ENSP00000434688.1:p.Asp28Asn | |
| ENST00000525803.1:c.*20G>A | ENSP00000431750.1:n.*20G>A | |
| ENST00000527428.5:n.460G>A | ||
| ENST00000527635.1:n.327G>A | ||
| ENST00000528679.5:c.*95G>A | ENSP00000435895.1:n.*95G>A | |
| ENST00000531175.1:n.237G>A | ||
| ENST00000531673.5:c.*95G>A | ENSP00000433469.1:n.*95G>A | |
| NM_000317.2:c.286G>A | NP_000308.1:p.Asp96Asn | |
| XM_011542943.1:c.247G>A | XP_011541245.1:p.Asp83Asn | |
| NM_000317.3:c.286G>A MANE Select | NP_000308.1:p.Asp96Asn |