Revel Score:
ENST00000418967
0.680
ENST00000435122
0.680
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019086 (EAS)
Genomes Max Group AF
0.00079423 (EAS)
Exomes Max Group AF
0.00006576 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040535C>T , CM000668.2:g.32040535C>T | GRCh38 |
| NC_000006.11:g.32008312C>T , CM000668.1:g.32008312C>T | GRCh37 |
| NC_000006.10:g.32116291C>T | NCBI36 |
| NG_007941.2:g.7228C>T | |
| NG_008337.2:g.73840G>A | |
| NG_007941.3:g.7231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1069C>T MANE Select | ENSP00000496625.1:p.Arg357Trp | |
| ENST00000418967.6:c.1069C>T | ENSP00000408860.2:p.Arg357Trp | |
| ENST00000435122.3:c.979C>T | ENSP00000415043.2:p.Arg327Trp | |
| ENST00000479074.5:n.1127C>T | ||
| ENST00000479730.5:n.1185C>T | ||
| ENST00000483041.5:n.1238C>T | ||
| ENST00000486063.5:n.1048C>T | ||
| NM_000500.7:c.1069C>T | NP_000491.4:p.Arg357Trp | |
| NM_001128590.3:c.979C>T | NP_001122062.3:p.Arg327Trp | |
| XM_011514314.1:c.664C>T | XP_011512616.1:p.Arg222Trp | |
| NM_000500.9:c.1069C>T MANE Select | NP_000491.4:p.Arg357Trp | |
| NM_001368143.1:c.664C>T | NP_001355072.1:p.Arg222Trp | |
| NM_001368144.1:c.664C>T | NP_001355073.1:p.Arg222Trp | |
| NM_001128590.4:c.979C>T | NP_001122062.3:p.Arg327Trp | |
| NM_001368143.2:c.664C>T | NP_001355072.1:p.Arg222Trp | |
| NM_001368144.2:c.664C>T | NP_001355073.1:p.Arg222Trp |