Revel Score:
ENST00000273783
0.964
ENST00000432569
0.964
ENST00000444495
0.964
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000362 (NFE)
Exomes Max Group AF
0.00000384 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184135551T>G , CM000665.2:g.184135551T>G | GRCh38 |
| NC_000003.11:g.183853339T>G , CM000665.1:g.183853339T>G | GRCh37 |
| NC_000003.10:g.185336033T>G | NCBI36 |
| NG_015826.1:g.5530T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432569.2:c.166T>G | ENSP00000414775.1:p.Phe56Val | |
| ENST00000465218.3:n.189T>G | ||
| ENST00000468748.7:n.149T>G | ||
| ENST00000471832.2:c.166T>G | ENSP00000497786.1:p.Phe56Val | |
| ENST00000491008.6:n.31T>G | ||
| ENST00000492226.2:n.163T>G | ||
| ENST00000647636.1:c.166T>G | ENSP00000497505.1:p.Phe56Val | |
| ENST00000647909.1:c.166T>G | ENSP00000498164.1:p.Phe56Val | |
| ENST00000648256.1:c.115T>G | ENSP00000497356.1:p.Phe39Val | |
| ENST00000648314.1:c.166T>G | ENSP00000496920.1:p.Phe56Val | |
| ENST00000648599.1:c.166T>G | ENSP00000497159.1:p.Phe56Val | |
| ENST00000648630.1:c.160T>G | ENSP00000497887.1:p.Phe54Val | |
| ENST00000648682.1:c.166T>G | ENSP00000498185.1:p.Phe56Val | |
| ENST00000648882.1:c.166T>G | ENSP00000497603.1:p.Phe56Val | |
| ENST00000648890.1:c.166T>G | ENSP00000497503.1:p.Phe56Val | |
| ENST00000648915.2:c.166T>G MANE Select | ENSP00000497160.1:p.Phe56Val | |
| ENST00000649688.1:c.166T>G | ENSP00000497097.1:p.Phe56Val | |
| ENST00000649814.1:n.215T>G | ||
| ENST00000650244.1:c.58T>G | ENSP00000497227.1:p.Phe20Val | |
| ENST00000650270.1:c.33T>G | ||
| ENST00000273783.7:c.166T>G | ENSP00000273783.3:p.Phe56Val | |
| ENST00000432569.1:c.166T>G | ENSP00000414775.1:p.Phe56Val | |
| ENST00000432982.5:c.152T>G | ||
| ENST00000444495.1:c.166T>G | ENSP00000409142.1:p.Phe56Val | |
| ENST00000481054.5:n.167T>G | ||
| ENST00000491144.5:n.514T>G | ||
| NM_003907.2:c.166T>G | NP_003898.2:p.Phe56Val | |
| XR_924208.1:n.1117T>G | ||
| NM_003907.3:c.166T>G MANE Select | NP_003898.2:p.Phe56Val | |
| XM_011513266.3:c.-736T>G | XP_011511568.1:n.-736T>G | |
| XR_001740352.2:n.529T>G | ||
| XR_001740353.2:n.529T>G | ||
| XR_924208.2:n.529T>G |