Revel Score:
ENST00000539474
0.197
ENST00000408984
0.643
ENST00000406884
0.643
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211666G>C , CM000678.2:g.79211666G>C | GRCh38 |
| NC_000016.9:g.79245563G>C , CM000678.1:g.79245563G>C | GRCh37 |
| NC_000016.8:g.77803064G>C | NCBI36 |
| NG_011698.1:g.1117013G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*229G>C (WWOX) | ENSP00000507689.1:n.*229G>C | |
| ENST00000566780.6:c.1115G>C (WWOX) MANE Select | ENSP00000457230.1:p.Gly372Ala | |
| ENST00000402655.6:c.468G>C (WWOX) | ENSP00000384238.2:p.Gly156= | |
| ENST00000406884.6:c.575G>C (WWOX) | ENSP00000384495.2:p.Gly192Ala | |
| ENST00000539474.6:c.544G>C (WWOX) | ENSP00000445210.2:p.Glu182Gln | |
| ENST00000566103.1:n.182G>C (WWOX) | ||
| ENST00000566780.5:c.1115G>C (WWOX) | ENSP00000457230.1:p.Gly372Ala | |
| ENST00000569332.5:c.*912G>C (WWOX) | ENSP00000454788.1:n.*912G>C | |
| NM_001291997.1:c.776G>C (WWOX) | NP_001278926.1:p.Gly259Ala | |
| NM_016373.3:c.1115G>C (WWOX) | NP_057457.1:p.Gly372Ala | |
| XM_011523100.1:c.1211G>C (WWOX) | XP_011521402.1:p.Gly404Ala | |
| XM_011523103.3:c.*87G>C (WWOX) | XP_011521405.1:n.*87G>C | |
| XM_017023279.1:c.201G>C (WWOX) | XP_016878768.1:p.Gly67= | |
| XM_024450279.1:c.*1264C>G (MAF) | XP_024306047.1:n.*1264C>G | |
| XR_001751902.2:n.4466C>G (MAF) | ||
| XR_002957802.1:n.4466C>G (MAF) | ||
| XR_002957803.1:n.4466C>G (MAF) | ||
| XR_002957804.1:n.4466C>G (MAF) | ||
| NM_016373.4:c.1115G>C (WWOX) MANE Select | NP_057457.1:p.Gly372Ala | |
| NM_001291997.2:c.776G>C (WWOX) | NP_001278926.1:p.Gly259Ala |