Revel Score:
ENST00000418967
0.690
ENST00000435122
0.690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040190G>T , CM000668.2:g.32040190G>T | GRCh38 |
| NC_000006.11:g.32007967G>T , CM000668.1:g.32007967G>T | GRCh37 |
| NC_000006.10:g.32115946G>T | NCBI36 |
| NG_007941.2:g.6883G>T | |
| NG_008337.2:g.74185C>A | |
| NG_007941.3:g.6886G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.924G>T MANE Select | ENSP00000496625.1:p.Leu308Phe | |
| ENST00000418967.6:c.924G>T | ENSP00000408860.2:p.Leu308Phe | |
| ENST00000435122.3:c.834G>T | ENSP00000415043.2:p.Leu278Phe | |
| ENST00000479074.5:n.982G>T | ||
| ENST00000479730.5:n.1040G>T | ||
| ENST00000483041.5:n.1093G>T | ||
| ENST00000486063.5:n.919-216G>T | ||
| NM_000500.7:c.924G>T | NP_000491.4:p.Leu308Phe | |
| NM_001128590.3:c.834G>T | NP_001122062.3:p.Leu278Phe | |
| XM_011514314.1:c.519G>T | XP_011512616.1:p.Leu173Phe | |
| NM_000500.9:c.924G>T MANE Select | NP_000491.4:p.Leu308Phe | |
| NM_001368143.1:c.519G>T | NP_001355072.1:p.Leu173Phe | |
| NM_001368144.1:c.519G>T | NP_001355073.1:p.Leu173Phe | |
| NM_001128590.4:c.834G>T | NP_001122062.3:p.Leu278Phe | |
| NM_001368143.2:c.519G>T | NP_001355072.1:p.Leu173Phe | |
| NM_001368144.2:c.519G>T | NP_001355073.1:p.Leu173Phe |