Revel Score:
ENST00000408984
0.314
ENST00000406884
0.314
ENST00000402655
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00068517 (AFR)
Genomes Max Group AF
0.00074667 (AFR)
Exomes Max Group AF
0.00046904 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211791G>A , CM000678.2:g.79211791G>A | GRCh38 |
| NC_000016.9:g.79245688G>A , CM000678.1:g.79245688G>A | GRCh37 |
| NC_000016.8:g.77803189G>A | NCBI36 |
| NG_011698.1:g.1117138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*354G>A (WWOX) | ENSP00000507689.1:n.*354G>A | |
| ENST00000566780.6:c.1240G>A (WWOX) MANE Select | ENSP00000457230.1:p.Gly414Ser | |
| ENST00000402655.6:c.593G>A (WWOX) | ENSP00000384238.2:p.Arg198Gln | |
| ENST00000406884.6:c.700G>A (WWOX) | ENSP00000384495.2:p.Gly234Ser | |
| ENST00000539474.6:c.*27G>A (WWOX) | ENSP00000445210.2:n.*27G>A | |
| ENST00000566103.1:n.307G>A (WWOX) | ||
| ENST00000566780.5:c.1240G>A (WWOX) | ENSP00000457230.1:p.Gly414Ser | |
| ENST00000569332.5:c.*1037G>A (WWOX) | ENSP00000454788.1:n.*1037G>A | |
| NM_001291997.1:c.901G>A (WWOX) | NP_001278926.1:p.Gly301Ser | |
| NM_016373.3:c.1240G>A (WWOX) | NP_057457.1:p.Gly414Ser | |
| XM_011523100.1:c.1336G>A (WWOX) | XP_011521402.1:p.Gly446Ser | |
| XM_011523103.3:c.*212G>A (WWOX) | XP_011521405.1:n.*212G>A | |
| XM_017023279.1:c.326G>A (WWOX) | XP_016878768.1:p.Arg109Gln | |
| XM_024450279.1:c.*1139C>T (MAF) | XP_024306047.1:n.*1139C>T | |
| XR_001751902.2:n.4341C>T (MAF) | ||
| XR_002957802.1:n.4341C>T (MAF) | ||
| XR_002957803.1:n.4341C>T (MAF) | ||
| XR_002957804.1:n.4341C>T (MAF) | ||
| NM_016373.4:c.1240G>A (WWOX) MANE Select | NP_057457.1:p.Gly414Ser | |
| NM_001291997.2:c.901G>A (WWOX) | NP_001278926.1:p.Gly301Ser |