Linked Data
ClinVar Variation Id:
100648
dbSNP Id:
rs587777127
gnomAD v2:
16-79245562-G-C
gnomAD v4:
16-79211665-G-C
PubMed:
PMID:24369382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211665G>C , CM000678.2:g.79211665G>C | GRCh38 |
| NC_000016.9:g.79245562G>C , CM000678.1:g.79245562G>C | GRCh37 |
| NC_000016.8:g.77803063G>C | NCBI36 |
| NG_011698.1:g.1117012G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*228G>C (WWOX) | ENSP00000507689.1:n.*228G>C | |
| ENST00000566780.6:c.1114G>C (WWOX) MANE Select | ENSP00000457230.1:p.Gly372Arg | |
| ENST00000402655.6:c.467G>C (WWOX) | ENSP00000384238.2:p.Gly156Ala | |
| ENST00000406884.6:c.574G>C (WWOX) | ENSP00000384495.2:p.Gly192Arg | |
| ENST00000539474.6:c.543G>C (WWOX) | ENSP00000445210.2:p.Trp181Cys | |
| ENST00000566103.1:n.181G>C (WWOX) | ||
| ENST00000566780.5:c.1114G>C (WWOX) | ENSP00000457230.1:p.Gly372Arg | |
| ENST00000569332.5:c.*911G>C (WWOX) | ENSP00000454788.1:n.*911G>C | |
| NM_001291997.1:c.775G>C (WWOX) | NP_001278926.1:p.Gly259Arg | |
| NM_016373.3:c.1114G>C (WWOX) | NP_057457.1:p.Gly372Arg | |
| XM_011523100.1:c.1210G>C (WWOX) | XP_011521402.1:p.Gly404Arg | |
| XM_011523103.3:c.*86G>C (WWOX) | XP_011521405.1:n.*86G>C | |
| XM_017023279.1:c.200G>C (WWOX) | XP_016878768.1:p.Gly67Ala | |
| XM_024450279.1:c.*1265C>G (MAF) | XP_024306047.1:n.*1265C>G | |
| XR_001751902.2:n.4467C>G (MAF) | ||
| XR_002957802.1:n.4467C>G (MAF) | ||
| XR_002957803.1:n.4467C>G (MAF) | ||
| XR_002957804.1:n.4467C>G (MAF) | ||
| NM_016373.4:c.1114G>C (WWOX) MANE Select | NP_057457.1:p.Gly372Arg | |
| NM_001291997.2:c.775G>C (WWOX) | NP_001278926.1:p.Gly259Arg |