Linked Data
ClinVar Variation Id:
540232
ClinVar RCV Id:
RCV000650201
dbSNP Id:
rs1555547940
gnomAD v4:
16-79211624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211624C>T , CM000678.2:g.79211624C>T | GRCh38 |
| NC_000016.9:g.79245521C>T , CM000678.1:g.79245521C>T | GRCh37 |
| NC_000016.8:g.77803022C>T | NCBI36 |
| NG_011698.1:g.1116971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*187C>T (WWOX) | ENSP00000507689.1:n.*187C>T | |
| ENST00000566780.6:c.1073C>T (WWOX) MANE Select | ENSP00000457230.1:p.Thr358Ile | |
| ENST00000402655.6:c.426C>T (WWOX) | ENSP00000384238.2:p.His142= | |
| ENST00000406884.6:c.533C>T (WWOX) | ENSP00000384495.2:p.Thr178Ile | |
| ENST00000539474.6:c.502C>T (WWOX) | ENSP00000445210.2:p.Pro168Ser | |
| ENST00000566103.1:n.140C>T (WWOX) | ||
| ENST00000566780.5:c.1073C>T (WWOX) | ENSP00000457230.1:p.Thr358Ile | |
| ENST00000569332.5:c.*870C>T (WWOX) | ENSP00000454788.1:n.*870C>T | |
| NM_001291997.1:c.734C>T (WWOX) | NP_001278926.1:p.Thr245Ile | |
| NM_016373.3:c.1073C>T (WWOX) | NP_057457.1:p.Thr358Ile | |
| XM_011523100.1:c.1169C>T (WWOX) | XP_011521402.1:p.Thr390Ile | |
| XM_011523103.1:c.*45C>T (WWOX) | XP_011521405.1:n.*45C>T | |
| XM_011523103.3:c.*45C>T (WWOX) | XP_011521405.1:n.*45C>T | |
| XM_017023279.1:c.159C>T (WWOX) | XP_016878768.1:p.His53= | |
| XM_024450279.1:c.*1306G>A (MAF) | XP_024306047.1:n.*1306G>A | |
| XR_001751902.2:n.4508G>A (MAF) | ||
| XR_002957802.1:n.4508G>A (MAF) | ||
| XR_002957803.1:n.4508G>A (MAF) | ||
| XR_002957804.1:n.4508G>A (MAF) | ||
| NM_016373.4:c.1073C>T (WWOX) MANE Select | NP_057457.1:p.Thr358Ile | |
| NM_001291997.2:c.734C>T (WWOX) | NP_001278926.1:p.Thr245Ile |