Revel Score:
ENST00000539474
0.047
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00073608 (NFE)
Genomes Max Group AF
0.0004687 (NFE)
Exomes Max Group AF
0.00074427 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211754C>T , CM000678.2:g.79211754C>T | GRCh38 |
| NC_000016.9:g.79245651C>T , CM000678.1:g.79245651C>T | GRCh37 |
| NC_000016.8:g.77803152C>T | NCBI36 |
| NG_011698.1:g.1117101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*317C>T (WWOX) | ENSP00000507689.1:n.*317C>T | |
| ENST00000566780.6:c.1203C>T (WWOX) MANE Select | ENSP00000457230.1:p.Ser401= | |
| ENST00000402655.6:c.556C>T (WWOX) | ENSP00000384238.2:p.Arg186Ter | |
| ENST00000406884.6:c.663C>T (WWOX) | ENSP00000384495.2:p.Ser221= | |
| ENST00000539474.6:c.632C>T (WWOX) | ENSP00000445210.2:p.Ala211Val | |
| ENST00000566103.1:n.270C>T (WWOX) | ||
| ENST00000566780.5:c.1203C>T (WWOX) | ENSP00000457230.1:p.Ser401= | |
| ENST00000569332.5:c.*1000C>T (WWOX) | ENSP00000454788.1:n.*1000C>T | |
| NM_001291997.1:c.864C>T (WWOX) | NP_001278926.1:p.Ser288= | |
| NM_016373.3:c.1203C>T (WWOX) | NP_057457.1:p.Ser401= | |
| XM_011523100.1:c.1299C>T (WWOX) | XP_011521402.1:p.Ser433= | |
| XM_011523103.3:c.*175C>T (WWOX) | XP_011521405.1:n.*175C>T | |
| XM_017023279.1:c.289C>T (WWOX) | XP_016878768.1:p.Arg97Ter | |
| XM_024450279.1:c.*1176G>A (MAF) | XP_024306047.1:n.*1176G>A | |
| XR_001751902.2:n.4378G>A (MAF) | ||
| XR_002957802.1:n.4378G>A (MAF) | ||
| XR_002957803.1:n.4378G>A (MAF) | ||
| XR_002957804.1:n.4378G>A (MAF) | ||
| NM_016373.4:c.1203C>T (WWOX) MANE Select | NP_057457.1:p.Ser401= | |
| NM_001291997.2:c.864C>T (WWOX) | NP_001278926.1:p.Ser288= |