Revel Score:
ENST00000366574 (MANE Select)
0.322
ENST00000360064
0.322
ENST00000542537
0.322
ENST00000542288
0.322
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003726 (SAS)
Genomes Max Group AF
0.00001172 (NFE)
Exomes Max Group AF
0.00003921 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237726282C>T , CM000663.2:g.237726282C>T | GRCh38 |
| NC_000001.10:g.237889582C>T , CM000663.1:g.237889582C>T | GRCh37 |
| NC_000001.9:g.235956205C>T | NCBI36 |
| NG_008799.2:g.688881C>T | |
| NG_008799.3:g.689099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*1734C>T | ENSP00000499659.2:n.*1734C>T | |
| ENST00000659194.3:c.10690-805C>T | ENSP00000499653.3:n.10690-805C>T | |
| ENST00000660292.2:c.10690-805C>T | ENSP00000499787.2:n.10690-805C>T | |
| ENST00000659194.2:c.2879-805C>T | ||
| ENST00000366574.7:c.10699C>T MANE Select | ENSP00000355533.2:p.Arg3567Cys | |
| ENST00000659194.1:c.2879-805C>T | ||
| ENST00000660292.1:c.722-805C>T | ||
| ENST00000661330.1:c.506C>T | ||
| ENST00000360064.7:c.10651C>T | ENSP00000353174.7:p.Arg3551Cys | |
| ENST00000366574.6:c.10699C>T | ENSP00000355533.2:p.Arg3567Cys | |
| ENST00000609119.1:n.1837C>T | ||
| ENST00000609253.1:n.53-805C>T | ||
| NM_001035.2:c.10699C>T | NP_001026.2:p.Arg3567Cys | |
| XM_006711802.2:c.10729C>T | XP_006711865.1:p.Arg3577Cys | |
| XM_006711803.2:c.10726C>T | XP_006711866.1:p.Arg3576Cys | |
| XM_006711804.2:c.10729C>T | XP_006711867.1:p.Arg3577Cys | |
| XM_006711805.2:c.10699C>T | XP_006711868.1:p.Arg3567Cys | |
| XM_006711806.2:c.10720-805C>T | XP_006711869.1:n.10720-805C>T | |
| XM_006711807.2:c.10720-805C>T | XP_006711870.1:n.10720-805C>T | |
| XM_006711808.2:c.10492C>T | XP_006711871.1:p.Arg3498Cys | |
| XM_006711810.2:c.10687-805C>T | XP_006711873.1:n.10687-805C>T | |
| XM_006711802.3:c.10729C>T | XP_006711865.1:p.Arg3577Cys | |
| XM_006711803.3:c.10726C>T | XP_006711866.1:p.Arg3576Cys | |
| XM_006711804.3:c.10729C>T | XP_006711867.1:p.Arg3577Cys | |
| XM_006711805.3:c.10699C>T | XP_006711868.1:p.Arg3567Cys | |
| XM_006711806.3:c.10720-805C>T | XP_006711869.1:n.10720-805C>T | |
| XM_006711807.3:c.10720-805C>T | XP_006711870.1:n.10720-805C>T | |
| XM_006711808.3:c.10492C>T | XP_006711871.1:p.Arg3498Cys | |
| XM_006711810.3:c.10687-805C>T | XP_006711873.1:n.10687-805C>T | |
| XM_017002028.1:c.10708C>T | XP_016857517.1:p.Arg3570Cys | |
| NM_001035.3:c.10699C>T MANE Select | NP_001026.2:p.Arg3567Cys |