COSMIC:
COSM3765933 (not active)
Revel Score:
ENST00000402655
0.092
ENST00000299644
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57194093 (NFE)
Genomes Max Group AF
0.55834034 (NFE)
Exomes Max Group AF
0.57253607 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211923G>T , CM000678.2:g.79211923G>T | GRCh38 |
| NC_000016.9:g.79245820G>T , CM000678.1:g.79245820G>T | GRCh37 |
| NC_000016.8:g.77803321G>T | NCBI36 |
| NG_011698.1:g.1117270G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*486G>T (WWOX) | ENSP00000507689.1:n.*486G>T | |
| ENST00000566780.6:c.*127G>T (WWOX) MANE Select | ENSP00000457230.1:n.*127G>T | |
| ENST00000402655.6:c.725G>T (WWOX) | ENSP00000384238.2:p.Ser242Ile | |
| ENST00000406884.6:c.*127G>T (WWOX) | ENSP00000384495.2:n.*127G>T | |
| ENST00000539474.6:c.*159G>T (WWOX) | ENSP00000445210.2:n.*159G>T | |
| ENST00000566103.1:n.439G>T (WWOX) | ||
| ENST00000566780.5:c.*127G>T (WWOX) | ENSP00000457230.1:n.*127G>T | |
| ENST00000569332.5:c.*1169G>T (WWOX) | ENSP00000454788.1:n.*1169G>T | |
| NM_001291997.1:c.*127G>T (WWOX) | NP_001278926.1:n.*127G>T | |
| NM_016373.3:c.*127G>T (WWOX) | NP_057457.1:n.*127G>T | |
| XM_011523100.1:c.*127G>T (WWOX) | XP_011521402.1:n.*127G>T | |
| XM_011523103.3:c.*344G>T (WWOX) | XP_011521405.1:n.*344G>T | |
| XM_017023279.1:c.458G>T (WWOX) | XP_016878768.1:p.Ser153Ile | |
| XM_024450279.1:c.*1007C>A (MAF) | XP_024306047.1:n.*1007C>A | |
| XR_001751902.2:n.4209C>A (MAF) | ||
| XR_002957802.1:n.4209C>A (MAF) | ||
| XR_002957803.1:n.4209C>A (MAF) | ||
| XR_002957804.1:n.4209C>A (MAF) | ||
| NM_016373.4:c.*127G>T (WWOX) MANE Select | NP_057457.1:n.*127G>T | |
| NM_001291997.2:c.*127G>T (WWOX) | NP_001278926.1:n.*127G>T |