Revel Score:
ENST00000438926
0.317
ENST00000262502
0.317
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005299 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00005162 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904401C>T , CM000678.2:g.56904401C>T | GRCh38 |
| NC_000016.9:g.56938313C>T , CM000678.1:g.56938313C>T | GRCh37 |
| NC_000016.8:g.55495814C>T | NCBI36 |
| NG_009386.1:g.44195C>T | |
| NG_009386.2:g.44195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2863C>T MANE Select | ENSP00000456149.2:p.Arg955Trp | |
| ENST00000262502.5:c.2860C>T | ENSP00000262502.5:p.Arg954Trp | |
| ENST00000438926.6:c.2890C>T | ENSP00000402152.2:p.Arg964Trp | |
| ENST00000563236.5:c.2863C>T | ENSP00000456149.1:p.Arg955Trp | |
| ENST00000566786.5:c.2887C>T | ENSP00000457552.1:p.Arg963Trp | |
| ENST00000569002.1:n.294C>T | ||
| NM_000339.2:c.2890C>T | NP_000330.2:p.Arg964Trp | |
| NM_001126107.1:c.2887C>T | NP_001119579.1:p.Arg963Trp | |
| NM_001126108.1:c.2863C>T | NP_001119580.1:p.Arg955Trp | |
| XM_005256119.1:c.2860C>T | XP_005256176.1:p.Arg954Trp | |
| XM_005256119.2:c.2860C>T | XP_005256176.1:p.Arg954Trp | |
| NM_000339.3:c.2890C>T | NP_000330.3:p.Arg964Trp | |
| NM_001126107.2:c.2887C>T | NP_001119579.2:p.Arg963Trp | |
| NM_001126108.2:c.2863C>T MANE Select | NP_001119580.2:p.Arg955Trp |