Revel Score:
ENST00000442948
0.185
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05471055 (NFE)
Genomes Max Group AF
0.05583826 (NFE)
Exomes Max Group AF
0.05457124 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72139084C>T , CM000673.2:g.72139084C>T | GRCh38 |
| NC_000011.9:g.71850130C>T , CM000673.1:g.71850130C>T | GRCh37 |
| NC_000011.8:g.71527778C>T | NCBI36 |
| NG_032935.1:g.8360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611028.3:c.292C>T MANE Select | ENSP00000481114.1:p.Arg98Cys | |
| ENST00000442948.3:c.286C>T | ENSP00000411161.3:p.Arg96Cys | |
| ENST00000611028.2:c.292C>T | ENSP00000481114.1:p.Arg98Cys | |
| ENST00000612844.4:c.420C>T | ENSP00000481027.1:p.Ser140= | |
| ENST00000622388.4:c.292C>T | ENSP00000481833.1:p.Arg98Cys | |
| NM_000804.2:c.292C>T | NP_000795.2:p.Arg98Cys | |
| XM_011544873.1:c.292C>T | XP_011543175.1:p.Arg98Cys | |
| XM_011544874.1:c.292C>T | XP_011543176.1:p.Arg98Cys | |
| XM_011544875.1:c.19C>T | XP_011543177.1:p.Arg7Cys | |
| XM_011544876.1:c.81+24C>T | XP_011543178.1:n.81+24C>T | |
| NM_000804.3:c.292C>T | NP_000795.2:p.Arg98Cys | |
| NM_001318045.1:c.19C>T | NP_001304974.1:p.Arg7Cys | |
| NM_000804.4:c.292C>T MANE Select | NP_000795.2:p.Arg98Cys | |
| NM_001318045.2:c.19C>T | NP_001304974.1:p.Arg7Cys |