Revel Score:
ENST00000418967
0.845
ENST00000435122
0.845
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040871C>A , CM000668.2:g.32040871C>A | GRCh38 |
| NC_000006.11:g.32008648C>A , CM000668.1:g.32008648C>A | GRCh37 |
| NC_000006.10:g.32116627C>A | NCBI36 |
| NG_007941.2:g.7564C>A | |
| NG_008337.2:g.73504G>T | |
| NG_007941.3:g.7567C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1225C>A MANE Select | ENSP00000496625.1:p.Arg409Ser | |
| ENST00000418967.6:c.1225C>A | ENSP00000408860.2:p.Arg409Ser | |
| ENST00000435122.3:c.1135C>A | ENSP00000415043.2:p.Arg379Ser | |
| ENST00000479074.5:n.1366C>A | ||
| ENST00000479730.5:n.1341C>A | ||
| ENST00000483041.5:n.1394C>A | ||
| ENST00000486063.5:n.1204C>A | ||
| NM_000500.7:c.1225C>A | NP_000491.4:p.Arg409Ser | |
| NM_001128590.3:c.1135C>A | NP_001122062.3:p.Arg379Ser | |
| XM_011514314.1:c.820C>A | XP_011512616.1:p.Arg274Ser | |
| NM_000500.9:c.1225C>A MANE Select | NP_000491.4:p.Arg409Ser | |
| NM_001368143.1:c.820C>A | NP_001355072.1:p.Arg274Ser | |
| NM_001368144.1:c.820C>A | NP_001355073.1:p.Arg274Ser | |
| NM_001128590.4:c.1135C>A | NP_001122062.3:p.Arg379Ser | |
| NM_001368143.2:c.820C>A | NP_001355072.1:p.Arg274Ser | |
| NM_001368144.2:c.820C>A | NP_001355073.1:p.Arg274Ser |