Revel Score:
ENST00000417137
0.647
ENST00000344921
0.647
ENST00000263121
0.647
ENST00000407422
0.647
ENST00000407082
0.647
ENST00000541530
0.647
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23791820G>A , CM000684.2:g.23791820G>A | GRCh38 |
| NC_000022.10:g.24134007G>A , CM000684.1:g.24134007G>A | GRCh37 |
| NC_000022.9:g.22464007G>A | NCBI36 |
| NG_009303.1:g.9858G>A , LRG_520:g.9858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.158G>A | ENSP00000263121.8:p.Arg53Gln | |
| ENST00000344921.11:c.158G>A | ENSP00000340883.6:p.Arg53Gln | |
| ENST00000407082.4:c.158G>A | ENSP00000385226.4:p.Arg53Gln | |
| ENST00000407422.8:c.158G>A | ENSP00000383984.3:p.Arg53Gln | |
| ENST00000417137.6:c.158G>A | ENSP00000388489.2:p.Arg53Gln | |
| ENST00000491967.2:n.348G>A | ||
| ENST00000643421.1:n.126G>A | ||
| ENST00000644036.2:c.158G>A MANE Select | ENSP00000494049.2:p.Arg53Gln | |
| ENST00000644462.1:c.20G>A | ENSP00000494283.1:p.Arg7Gln | |
| ENST00000644619.1:c.158G>A | ENSP00000494695.1:p.Arg53Gln | |
| ENST00000646421.1:n.350G>A | ||
| ENST00000646723.1:n.146G>A | ||
| ENST00000646911.1:n.70G>A | ||
| ENST00000647057.1:c.93+4558G>A | ENSP00000494757.1:n.93+4558G>A | |
| ENST00000263121.11:c.158G>A | ENSP00000263121.7:p.Arg53Gln | |
| ENST00000344921.10:c.158G>A | ENSP00000340883.6:p.Arg53Gln | |
| ENST00000407082.3:c.158G>A | ENSP00000385226.3:p.Arg53Gln | |
| ENST00000407422.7:c.158G>A | ENSP00000383984.3:p.Arg53Gln | |
| ENST00000417137.5:c.158G>A | ENSP00000388489.1:p.Arg53Gln | |
| ENST00000634926.1:c.10G>A | ||
| ENST00000635578.1:c.10G>A | ||
| NM_001007468.1:c.158G>A | NP_001007469.1:p.Arg53Gln | |
| NM_003073.3:c.158G>A , LRG_520t1:c.158G>A | NP_003064.2:p.Arg53Gln | |
| XM_011530345.1:c.158G>A | XP_011528647.1:p.Arg53Gln | |
| XM_011530346.1:c.158G>A | XP_011528648.1:p.Arg53Gln | |
| NM_001007468.2:c.158G>A | NP_001007469.1:p.Arg53Gln | |
| NM_001317946.1:c.158G>A | NP_001304875.1:p.Arg53Gln | |
| NM_001362877.1:c.158G>A | NP_001349806.1:p.Arg53Gln | |
| NM_003073.4:c.158G>A | NP_003064.2:p.Arg53Gln | |
| NM_001007468.3:c.158G>A | NP_001007469.1:p.Arg53Gln | |
| NM_001317946.2:c.158G>A | NP_001304875.1:p.Arg53Gln | |
| NM_001362877.2:c.158G>A | NP_001349806.1:p.Arg53Gln | |
| NM_003073.5:c.158G>A MANE Select | NP_003064.2:p.Arg53Gln |