Revel Score:
ENST00000380299
0.843
ENST00000417377
0.445
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232980G>T , CM000673.2:g.5232980G>T | GRCh38 |
| NC_000011.9:g.5254210G>T , CM000673.1:g.5254210G>T | GRCh37 |
| NC_000011.8:g.5210786G>T | NCBI36 |
| NG_000007.3:g.64636C>A | |
| NG_063112.2:g.15678C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.428C>A | ENSP00000494708.1:p.Ala143Asp | |
| ENST00000650601.1:c.428C>A MANE Select | ENSP00000497529.1:p.Ala143Asp | |
| ENST00000292901.7:c.316-182C>A | ENSP00000292901.3:n.316-182C>A | |
| ENST00000380299.3:c.428C>A | ENSP00000369654.3:p.Ala143Asp | |
| ENST00000417377.1:c.205C>A | ENSP00000414741.1:p.Leu69Ile | |
| NM_000519.3:c.428C>A | NP_000510.1:p.Ala143Asp | |
| NM_000519.4:c.428C>A MANE Select | NP_000510.1:p.Ala143Asp |