Revel Score:
ENST00000205557 (MANE Select)
0.333
ENST00000456970
0.333
ENST00000546056
0.333
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00160752 (SAS)
Genomes Max Group AF
0.00041024 (SAS)
Exomes Max Group AF
0.00164546 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16214428G>A , CM000678.2:g.16214428G>A | GRCh38 |
| NC_000016.9:g.16308285G>A , CM000678.1:g.16308285G>A | GRCh37 |
| NC_000016.8:g.16215786G>A | NCBI36 |
| NG_007558.2:g.14044C>T | |
| NG_007558.3:g.14190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.496C>T | ENSP00000507301.1:p.Arg166Cys | |
| ENST00000622290.5:c.496C>T | ENSP00000483331.2:p.Arg166Cys | |
| ENST00000205557.12:c.496C>T MANE Select | ENSP00000205557.7:p.Arg166Cys | |
| ENST00000205557.11:c.496C>T | ENSP00000205557.7:p.Arg166Cys | |
| ENST00000456970.6:c.496C>T | ENSP00000405002.2:p.Arg166Cys | |
| ENST00000574094.5:n.592C>T | ||
| ENST00000577103.1:c.*363C>T | ENSP00000459243.1:n.*363C>T | |
| ENST00000622290.4:c.496C>T | ENSP00000483331.1:p.Arg166Cys | |
| NM_001171.5:c.496C>T | NP_001162.4:p.Arg166Cys | |
| XM_011522479.1:c.496C>T | XP_011520781.1:p.Arg166Cys | |
| XM_011522480.1:c.154C>T | XP_011520782.1:p.Arg52Cys | |
| XM_011522481.1:c.154C>T | XP_011520783.1:p.Arg52Cys | |
| XM_011522482.1:c.496C>T | XP_011520784.1:p.Arg166Cys | |
| XR_932836.1:n.731C>T | ||
| XR_932837.1:n.732C>T | ||
| XR_932838.1:n.732C>T | ||
| XR_933132.1:n.381+2337G>A | ||
| NM_001351800.1:c.154C>T | NP_001338729.1:p.Arg52Cys | |
| NR_147784.1:n.533C>T | ||
| XM_011522479.2:c.496C>T | XP_011520781.1:p.Arg166Cys | |
| XM_011522481.3:c.154C>T | XP_011520783.1:p.Arg52Cys | |
| XM_011522482.3:c.496C>T | XP_011520784.1:p.Arg166Cys | |
| XM_017023212.1:c.496C>T | XP_016878701.1:p.Arg166Cys | |
| XM_017023214.1:c.496C>T | XP_016878703.1:p.Arg166Cys | |
| XM_024450261.1:c.532C>T | XP_024306029.1:p.Arg178Cys | |
| XR_001752340.1:n.596-823G>A | ||
| XR_001752341.1:n.595+1402G>A | ||
| XR_001752342.1:n.390-823G>A | ||
| XR_932836.2:n.677C>T | ||
| XR_932837.3:n.677C>T | ||
| XR_932838.3:n.677C>T | ||
| XR_933132.2:n.389+2337G>A | ||
| NM_001171.6:c.496C>T MANE Select | NP_001162.5:p.Arg166Cys |