Linked Data
ClinVar Variation Id:
1432253
ClinVar RCV Id:
RCV001941169
dbSNP Id:
rs1287638259
gnomAD v4:
16-79211726-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211726A>T , CM000678.2:g.79211726A>T | GRCh38 |
| NC_000016.9:g.79245623A>T , CM000678.1:g.79245623A>T | GRCh37 |
| NC_000016.8:g.77803124A>T | NCBI36 |
| NG_011698.1:g.1117073A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*289A>T (WWOX) | ENSP00000507689.1:n.*289A>T | |
| ENST00000566780.6:c.1175A>T (WWOX) MANE Select | ENSP00000457230.1:p.Glu392Val | |
| ENST00000402655.6:c.528A>T (WWOX) | ENSP00000384238.2:p.Arg176Ser | |
| ENST00000406884.6:c.635A>T (WWOX) | ENSP00000384495.2:p.Glu212Val | |
| ENST00000539474.6:c.604A>T (WWOX) | ENSP00000445210.2:p.Arg202Ter | |
| ENST00000566103.1:n.242A>T (WWOX) | ||
| ENST00000566780.5:c.1175A>T (WWOX) | ENSP00000457230.1:p.Glu392Val | |
| ENST00000569332.5:c.*972A>T (WWOX) | ENSP00000454788.1:n.*972A>T | |
| NM_001291997.1:c.836A>T (WWOX) | NP_001278926.1:p.Glu279Val | |
| NM_016373.3:c.1175A>T (WWOX) | NP_057457.1:p.Glu392Val | |
| XM_011523100.1:c.1271A>T (WWOX) | XP_011521402.1:p.Glu424Val | |
| XM_011523103.3:c.*147A>T (WWOX) | XP_011521405.1:n.*147A>T | |
| XM_017023279.1:c.261A>T (WWOX) | XP_016878768.1:p.Arg87Ser | |
| XM_024450279.1:c.*1204T>A (MAF) | XP_024306047.1:n.*1204T>A | |
| XR_001751902.2:n.4406T>A (MAF) | ||
| XR_002957802.1:n.4406T>A (MAF) | ||
| XR_002957803.1:n.4406T>A (MAF) | ||
| XR_002957804.1:n.4406T>A (MAF) | ||
| NM_016373.4:c.1175A>T (WWOX) MANE Select | NP_057457.1:p.Glu392Val | |
| NM_001291997.2:c.836A>T (WWOX) | NP_001278926.1:p.Glu279Val |