Revel Score:
ENST00000526177
0.092
ENST00000533784
0.092
ENST00000529721
0.092
ENST00000336898 (MANE Select)
0.092
ENST00000533805
0.092
ENST00000376282
0.092
ENST00000534322
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00090203 (NFE)
Genomes Max Group AF
0.00066403 (NFE)
Exomes Max Group AF
0.00090691 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75436974C>T , CM000673.2:g.75436974C>T | GRCh38 |
| NC_000011.9:g.75148019C>T , CM000673.1:g.75148019C>T | GRCh37 |
| NC_000011.8:g.74825667C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336898.8:c.1631G>A MANE Select | ENSP00000337972.3:p.Arg544Gln | |
| ENST00000336898.7:c.1631G>A | ENSP00000337972.3:p.Arg544Gln | |
| ENST00000443276.6:c.*1529G>A | ENSP00000396535.2:n.*1529G>A | |
| ENST00000526177.5:c.1217G>A | ENSP00000434050.1:p.Arg406Gln | |
| ENST00000527820.5:c.*1529G>A | ENSP00000437123.1:n.*1529G>A | |
| ENST00000529721.5:c.1631G>A | ENSP00000433214.1:p.Arg544Gln | |
| ENST00000531759.1:n.1875G>A | ||
| ENST00000533784.5:c.1274G>A | ENSP00000437049.1:p.Arg425Gln | |
| ENST00000533805.5:c.896G>A | ENSP00000435196.1:p.Arg299Gln | |
| ENST00000534322.1:c.398G>A | ENSP00000435728.1:p.Arg133Gln | |
| NM_030792.6:c.1631G>A | NP_110419.5:p.Arg544Gln | |
| XM_006718697.2:c.1631G>A | XP_006718760.1:p.Arg544Gln | |
| XM_011545275.1:c.1631G>A | XP_011543577.1:p.Arg544Gln | |
| XM_011545276.1:c.1631G>A | XP_011543578.1:p.Arg544Gln | |
| XM_011545277.1:c.1631G>A | XP_011543579.1:p.Arg544Gln | |
| XM_011545278.1:c.1631G>A | XP_011543580.1:p.Arg544Gln | |
| XM_011545279.1:c.1631G>A | XP_011543581.1:p.Arg544Gln | |
| XM_011545280.1:c.1460G>A | XP_011543582.1:p.Arg487Gln | |
| XM_011545281.1:c.1217G>A | XP_011543583.1:p.Arg406Gln | |
| XM_011545282.1:c.1217G>A | XP_011543584.1:p.Arg406Gln | |
| XM_011545283.1:c.1217G>A | XP_011543585.1:p.Arg406Gln | |
| XM_011545284.1:c.1217G>A | XP_011543586.1:p.Arg406Gln | |
| XM_011545285.1:c.1217G>A | XP_011543587.1:p.Arg406Gln | |
| XM_011545286.1:c.896G>A | XP_011543588.1:p.Arg299Gln | |
| XM_011545287.1:c.896G>A | XP_011543589.1:p.Arg299Gln | |
| NM_001351167.1:c.1217G>A | NP_001338096.1:p.Arg406Gln | |
| NM_001351168.1:c.896G>A | NP_001338097.1:p.Arg299Gln | |
| NM_030792.7:c.1631G>A | NP_110419.5:p.Arg544Gln | |
| XM_006718697.3:c.1631G>A | XP_006718760.1:p.Arg544Gln | |
| XM_011545276.2:c.1631G>A | XP_011543578.1:p.Arg544Gln | |
| XM_011545277.2:c.1631G>A | XP_011543579.1:p.Arg544Gln | |
| XM_011545278.2:c.1631G>A | XP_011543580.1:p.Arg544Gln | |
| XM_011545279.2:c.1631G>A | XP_011543581.1:p.Arg544Gln | |
| XM_011545281.2:c.1217G>A | XP_011543583.1:p.Arg406Gln | |
| NM_030792.8:c.1631G>A MANE Select | NP_110419.5:p.Arg544Gln | |
| NM_001351167.2:c.1217G>A | NP_001338096.1:p.Arg406Gln |