Revel Score:
ENST00000418967
0.507
ENST00000435122
0.507
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040194C>T , CM000668.2:g.32040194C>T | GRCh38 |
| NC_000006.11:g.32007971C>T , CM000668.1:g.32007971C>T | GRCh37 |
| NC_000006.10:g.32115950C>T | NCBI36 |
| NG_007941.2:g.6887C>T | |
| NG_008337.2:g.74181G>A | |
| NG_007941.3:g.6890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.928C>T MANE Select | ENSP00000496625.1:p.His310Tyr | |
| ENST00000418967.6:c.928C>T | ENSP00000408860.2:p.His310Tyr | |
| ENST00000435122.3:c.838C>T | ENSP00000415043.2:p.His280Tyr | |
| ENST00000479074.5:n.986C>T | ||
| ENST00000479730.5:n.1044C>T | ||
| ENST00000483041.5:n.1097C>T | ||
| ENST00000486063.5:n.919-212C>T | ||
| NM_000500.7:c.928C>T | NP_000491.4:p.His310Tyr | |
| NM_001128590.3:c.838C>T | NP_001122062.3:p.His280Tyr | |
| XM_011514314.1:c.523C>T | XP_011512616.1:p.His175Tyr | |
| NM_000500.9:c.928C>T MANE Select | NP_000491.4:p.His310Tyr | |
| NM_001368143.1:c.523C>T | NP_001355072.1:p.His175Tyr | |
| NM_001368144.1:c.523C>T | NP_001355073.1:p.His175Tyr | |
| NM_001128590.4:c.838C>T | NP_001122062.3:p.His280Tyr | |
| NM_001368143.2:c.523C>T | NP_001355072.1:p.His175Tyr | |
| NM_001368144.2:c.523C>T | NP_001355073.1:p.His175Tyr |