Revel Score:
ENST00000438926
0.817
ENST00000262502
0.817
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018123 (NFE)
Genomes Max Group AF
0.00011228 (NFE)
Exomes Max Group AF
0.00018108 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894563C>T , CM000678.2:g.56894563C>T | GRCh38 |
| NC_000016.9:g.56928475C>T , CM000678.1:g.56928475C>T | GRCh37 |
| NC_000016.8:g.55485976C>T | NCBI36 |
| NG_009386.1:g.34357C>T | |
| NG_009386.2:g.34357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2554C>T MANE Select | ENSP00000456149.2:p.Arg852Cys | |
| ENST00000262502.5:c.2551C>T | ENSP00000262502.5:p.Arg851Cys | |
| ENST00000438926.6:c.2581C>T | ENSP00000402152.2:p.Arg861Cys | |
| ENST00000563236.5:c.2554C>T | ENSP00000456149.1:p.Arg852Cys | |
| ENST00000566786.5:c.2578C>T | ENSP00000457552.1:p.Arg860Cys | |
| NM_000339.2:c.2581C>T | NP_000330.2:p.Arg861Cys | |
| NM_001126107.1:c.2578C>T | NP_001119579.1:p.Arg860Cys | |
| NM_001126108.1:c.2554C>T | NP_001119580.1:p.Arg852Cys | |
| XM_005256119.1:c.2551C>T | XP_005256176.1:p.Arg851Cys | |
| XM_005256119.2:c.2551C>T | XP_005256176.1:p.Arg851Cys | |
| NM_000339.3:c.2581C>T | NP_000330.3:p.Arg861Cys | |
| NM_001126107.2:c.2578C>T | NP_001119579.2:p.Arg860Cys | |
| NM_001126108.2:c.2554C>T MANE Select | NP_001119580.2:p.Arg852Cys |