Revel Score:
ENST00000329255
0.716
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44267585C>T , CM000673.2:g.44267585C>T | GRCh38 |
| NC_000011.9:g.44289135C>T , CM000673.1:g.44289135C>T | GRCh37 |
| NC_000011.8:g.44245711C>T | NCBI36 |
| NG_015809.1:g.47582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.815G>A MANE Select | ENSP00000498217.1:p.Arg272Gln | |
| ENST00000329255.3:c.815G>A | ENSP00000332744.3:p.Arg272Gln | |
| NM_021926.3:c.815G>A | NP_068745.2:p.Arg272Gln | |
| XM_011520265.1:c.293G>A | XP_011518567.1:p.Arg98Gln | |
| XM_011520266.1:c.293G>A | XP_011518568.1:p.Arg98Gln | |
| NM_021926.4:c.815G>A MANE Select | NP_068745.2:p.Arg272Gln |