Revel Score:
ENST00000371568 (MANE Select)
0.723
ENST00000371566
0.723
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00034412 (NFE)
Genomes Max Group AF
0.00023032 (NFE)
Exomes Max Group AF
0.00034448 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52397773C>T , CM000663.2:g.52397773C>T | GRCh38 |
| NC_000001.10:g.52863445C>T , CM000663.1:g.52863445C>T | GRCh37 |
| NC_000001.9:g.52636033C>T | NCBI36 |
| NG_028251.1:g.11699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.314G>A MANE Select | ENSP00000360623.3:p.Arg105Gln | |
| ENST00000371566.1:c.314G>A | ENSP00000360621.1:p.Arg105Gln | |
| ENST00000371568.7:c.314G>A | ENSP00000360623.3:p.Arg105Gln | |
| NM_001190818.1:c.314G>A | NP_001177747.1:p.Arg105Gln | |
| NM_001190819.1:c.314G>A | NP_001177748.1:p.Arg105Gln | |
| NM_004153.3:c.314G>A | NP_004144.2:p.Arg105Gln | |
| XM_011541527.3:c.-824G>A | XP_011539829.1:n.-824G>A | |
| XM_017001388.2:c.314G>A | XP_016856877.1:p.Arg105Gln | |
| XM_017001389.2:c.-487G>A | XP_016856878.1:n.-487G>A | |
| NM_004153.4:c.314G>A MANE Select | NP_004144.2:p.Arg105Gln | |
| NM_001190818.2:c.314G>A | NP_001177747.1:p.Arg105Gln | |
| NM_001190819.2:c.314G>A | NP_001177748.1:p.Arg105Gln |