Revel Score:
ENST00000540753
0.326
ENST00000362012 (MANE Select)
0.326
ENST00000223423
0.326
ENST00000426608
0.326
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011838 (SAS)
Genomes Max Group AF
0.00007299 (SAS)
Exomes Max Group AF
0.00010711 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122378544G>A , CM000671.2:g.122378544G>A | GRCh38 |
| NC_000009.11:g.125140823G>A , CM000671.1:g.125140823G>A | GRCh37 |
| NC_000009.10:g.124180644G>A | NCBI36 |
| NG_032900.1:g.12595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.323G>A MANE Select | ENSP00000354612.2:p.Arg108Gln | |
| ENST00000373698.7:c.-5G>A | ENSP00000362802.5:n.-5G>A | |
| ENST00000426608.6:c.206G>A | ENSP00000411606.2:p.Arg69Gln | |
| ENST00000540753.6:c.248G>A | ENSP00000437709.1:p.Arg83Gln | |
| ENST00000619306.5:c.323G>A | ENSP00000483540.2:p.Arg108Gln | |
| ENST00000643576.1:n.417G>A | ||
| ENST00000643810.1:c.-5G>A | ENSP00000494717.1:n.-5G>A | |
| ENST00000645132.1:n.490G>A | ||
| ENST00000647067.1:c.*168G>A | ENSP00000495728.1:n.*168G>A | |
| ENST00000223423.8:c.323G>A | ENSP00000223423.4:p.Arg108Gln | |
| ENST00000362012.6:c.323G>A | ENSP00000354612.2:p.Arg108Gln | |
| ENST00000373698.6:c.-5G>A | ENSP00000362802.5:n.-5G>A | |
| ENST00000426608.5:c.197G>A | ENSP00000411606.1:p.Arg66Gln | |
| ENST00000540753.5:c.248G>A | ENSP00000437709.1:p.Arg83Gln | |
| ENST00000614910.4:c.323G>A | ENSP00000484800.1:p.Arg108Gln | |
| ENST00000619306.4:c.416G>A | ENSP00000483540.1:p.Arg139Gln | |
| NM_000962.3:c.323G>A | NP_000953.2:p.Arg108Gln | |
| NM_001271164.1:c.323G>A | NP_001258093.1:p.Arg108Gln | |
| NM_001271165.1:c.-5G>A | NP_001258094.1:n.-5G>A | |
| NM_001271166.1:c.-5G>A | NP_001258095.1:n.-5G>A | |
| NM_001271367.1:c.-5G>A | NP_001258296.1:n.-5G>A | |
| NM_001271368.1:c.248G>A | NP_001258297.1:p.Arg83Gln | |
| NM_080591.2:c.323G>A | NP_542158.1:p.Arg108Gln | |
| XM_005252105.2:c.248G>A | XP_005252162.1:p.Arg83Gln | |
| XM_011518875.1:c.248G>A | XP_011517177.1:p.Arg83Gln | |
| XM_011518876.1:c.-5G>A | XP_011517178.1:n.-5G>A | |
| XM_005252105.3:c.248G>A | XP_005252162.1:p.Arg83Gln | |
| XM_011518875.2:c.248G>A | XP_011517177.1:p.Arg83Gln | |
| XM_011518876.2:c.-5G>A | XP_011517178.1:n.-5G>A | |
| XM_024447614.1:c.-5G>A | XP_024303382.1:n.-5G>A | |
| XM_024447615.1:c.-5G>A | XP_024303383.1:n.-5G>A | |
| NM_000962.4:c.323G>A MANE Select | NP_000953.2:p.Arg108Gln | |
| NM_001271164.2:c.323G>A | NP_001258093.1:p.Arg108Gln | |
| NM_001271165.2:c.-5G>A | NP_001258094.1:n.-5G>A | |
| NM_001271166.2:c.-5G>A | NP_001258095.1:n.-5G>A | |
| NM_001271367.2:c.-5G>A | NP_001258296.1:n.-5G>A | |
| NM_001271368.2:c.248G>A | NP_001258297.1:p.Arg83Gln | |
| NM_080591.3:c.323G>A | NP_542158.1:p.Arg108Gln |