Linked Data
ClinVar Variation Id:
946158
dbSNP Id:
rs199585408
ExAC:
16:79245593 G / A
gnomAD v2:
16-79245593-G-A
gnomAD v3:
16-79211696-G-A
gnomAD v4:
16-79211696-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211696G>A , CM000678.2:g.79211696G>A | GRCh38 |
| NC_000016.9:g.79245593G>A , CM000678.1:g.79245593G>A | GRCh37 |
| NC_000016.8:g.77803094G>A | NCBI36 |
| NG_011698.1:g.1117043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*259G>A (WWOX) | ENSP00000507689.1:n.*259G>A | |
| ENST00000566780.6:c.1145G>A (WWOX) MANE Select | ENSP00000457230.1:p.Cys382Tyr | |
| ENST00000402655.6:c.498G>A (WWOX) | ENSP00000384238.2:p.Leu166= | |
| ENST00000406884.6:c.605G>A (WWOX) | ENSP00000384495.2:p.Cys202Tyr | |
| ENST00000539474.6:c.574G>A (WWOX) | ENSP00000445210.2:p.Ala192Thr | |
| ENST00000566103.1:n.212G>A (WWOX) | ||
| ENST00000566780.5:c.1145G>A (WWOX) | ENSP00000457230.1:p.Cys382Tyr | |
| ENST00000569332.5:c.*942G>A (WWOX) | ENSP00000454788.1:n.*942G>A | |
| NM_001291997.1:c.806G>A (WWOX) | NP_001278926.1:p.Cys269Tyr | |
| NM_016373.3:c.1145G>A (WWOX) | NP_057457.1:p.Cys382Tyr | |
| XM_011523100.1:c.1241G>A (WWOX) | XP_011521402.1:p.Cys414Tyr | |
| XM_011523103.3:c.*117G>A (WWOX) | XP_011521405.1:n.*117G>A | |
| XM_017023279.1:c.231G>A (WWOX) | XP_016878768.1:p.Leu77= | |
| XM_024450279.1:c.*1234C>T (MAF) | XP_024306047.1:n.*1234C>T | |
| XR_001751902.2:n.4436C>T (MAF) | ||
| XR_002957802.1:n.4436C>T (MAF) | ||
| XR_002957803.1:n.4436C>T (MAF) | ||
| XR_002957804.1:n.4436C>T (MAF) | ||
| NM_016373.4:c.1145G>A (WWOX) MANE Select | NP_057457.1:p.Cys382Tyr | |
| NM_001291997.2:c.806G>A (WWOX) | NP_001278926.1:p.Cys269Tyr |