Linked Data
ClinVar Variation Id:
2197039
ClinVar RCV Id:
RCV002624639
dbSNP Id:
rs750042007
gnomAD v3:
16-79211734-C-A
gnomAD v4:
16-79211734-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211734C>A , CM000678.2:g.79211734C>A | GRCh38 |
| NC_000016.9:g.79245631C>A , CM000678.1:g.79245631C>A | GRCh37 |
| NC_000016.8:g.77803132C>A | NCBI36 |
| NG_011698.1:g.1117081C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*297C>A (WWOX) | ENSP00000507689.1:n.*297C>A | |
| ENST00000566780.6:c.1183C>A (WWOX) MANE Select | ENSP00000457230.1:p.Arg395= | |
| ENST00000402655.6:c.536C>A (WWOX) | ENSP00000384238.2:p.Pro179Gln | |
| ENST00000406884.6:c.643C>A (WWOX) | ENSP00000384495.2:p.Arg215= | |
| ENST00000539474.6:c.612C>A (WWOX) | ENSP00000445210.2:p.Pro204= | |
| ENST00000566103.1:n.250C>A (WWOX) | ||
| ENST00000566780.5:c.1183C>A (WWOX) | ENSP00000457230.1:p.Arg395= | |
| ENST00000569332.5:c.*980C>A (WWOX) | ENSP00000454788.1:n.*980C>A | |
| NM_001291997.1:c.844C>A (WWOX) | NP_001278926.1:p.Arg282= | |
| NM_016373.3:c.1183C>A (WWOX) | NP_057457.1:p.Arg395= | |
| XM_011523100.1:c.1279C>A (WWOX) | XP_011521402.1:p.Arg427= | |
| XM_011523103.3:c.*155C>A (WWOX) | XP_011521405.1:n.*155C>A | |
| XM_017023279.1:c.269C>A (WWOX) | XP_016878768.1:p.Pro90Gln | |
| XM_024450279.1:c.*1196G>T (MAF) | XP_024306047.1:n.*1196G>T | |
| XR_001751902.2:n.4398G>T (MAF) | ||
| XR_002957802.1:n.4398G>T (MAF) | ||
| XR_002957803.1:n.4398G>T (MAF) | ||
| XR_002957804.1:n.4398G>T (MAF) | ||
| NM_016373.4:c.1183C>A (WWOX) MANE Select | NP_057457.1:p.Arg395= | |
| NM_001291997.2:c.844C>A (WWOX) | NP_001278926.1:p.Arg282= |