Revel Score:
ENST00000418967
0.706
ENST00000435122
0.706
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001326 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040188T>G , CM000668.2:g.32040188T>G | GRCh38 |
| NC_000006.11:g.32007965T>G , CM000668.1:g.32007965T>G | GRCh37 |
| NC_000006.10:g.32115944T>G | NCBI36 |
| NG_007941.2:g.6881T>G | |
| NG_008337.2:g.74187A>C | |
| NG_007941.3:g.6884T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.922T>G MANE Select | ENSP00000496625.1:p.Leu308Val | |
| ENST00000418967.6:c.922T>G | ENSP00000408860.2:p.Leu308Val | |
| ENST00000435122.3:c.832T>G | ENSP00000415043.2:p.Leu278Val | |
| ENST00000479074.5:n.980T>G | ||
| ENST00000479730.5:n.1038T>G | ||
| ENST00000483041.5:n.1091T>G | ||
| ENST00000486063.5:n.919-218T>G | ||
| NM_000500.7:c.922T>G | NP_000491.4:p.Leu308Val | |
| NM_001128590.3:c.832T>G | NP_001122062.3:p.Leu278Val | |
| XM_011514314.1:c.517T>G | XP_011512616.1:p.Leu173Val | |
| NM_000500.9:c.922T>G MANE Select | NP_000491.4:p.Leu308Val | |
| NM_001368143.1:c.517T>G | NP_001355072.1:p.Leu173Val | |
| NM_001368144.1:c.517T>G | NP_001355073.1:p.Leu173Val | |
| NM_001128590.4:c.832T>G | NP_001122062.3:p.Leu278Val | |
| NM_001368143.2:c.517T>G | NP_001355072.1:p.Leu173Val | |
| NM_001368144.2:c.517T>G | NP_001355073.1:p.Leu173Val |