Revel Score:
ENST00000418967
0.516
ENST00000478281
0.516
ENST00000471671
0.516
ENST00000435122
0.516
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000744 (EAS)
Exomes Max Group AF
0.00000841 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039178C>T , CM000668.2:g.32039178C>T | GRCh38 |
| NC_000006.11:g.32006955C>T , CM000668.1:g.32006955C>T | GRCh37 |
| NC_000006.10:g.32114934C>T | NCBI36 |
| NG_007941.2:g.5871C>T | |
| NG_008337.2:g.75197G>A | |
| NG_007941.3:g.5874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.377C>T MANE Select | ENSP00000496625.1:p.Ser126Leu | |
| ENST00000418967.6:c.377C>T | ENSP00000408860.2:p.Ser126Leu | |
| ENST00000435122.3:c.287C>T | ENSP00000415043.2:p.Ser96Leu | |
| ENST00000464325.5:n.298C>T | ||
| ENST00000466779.5:c.*69C>T | ENSP00000417321.1:n.*69C>T | |
| ENST00000466879.5:n.428C>T | ||
| ENST00000469053.5:c.*69C>T | ENSP00000418104.1:n.*69C>T | |
| ENST00000471671.4:c.377C>T | ENSP00000418561.1:p.Ser126Leu | |
| ENST00000478281.5:c.410C>T | ENSP00000419572.1:p.Ser137Leu | |
| ENST00000479074.5:n.435C>T | ||
| ENST00000479730.5:n.532C>T | ||
| ENST00000483041.5:n.546C>T | ||
| ENST00000486063.5:n.557C>T | ||
| ENST00000488465.1:n.385C>T | ||
| NM_000500.7:c.377C>T | NP_000491.4:p.Ser126Leu | |
| NM_001128590.3:c.287C>T | NP_001122062.3:p.Ser96Leu | |
| XM_011514314.1:c.-29C>T | XP_011512616.1:n.-29C>T | |
| NM_000500.9:c.377C>T MANE Select | NP_000491.4:p.Ser126Leu | |
| NM_001368143.1:c.-29C>T | NP_001355072.1:n.-29C>T | |
| NM_001368144.1:c.-29C>T | NP_001355073.1:n.-29C>T | |
| NM_001128590.4:c.287C>T | NP_001122062.3:p.Ser96Leu | |
| NM_001368143.2:c.-29C>T | NP_001355072.1:n.-29C>T | |
| NM_001368144.2:c.-29C>T | NP_001355073.1:n.-29C>T |