Linked Data
ClinVar Variation Id:
415949
ClinVar RCV Id:
RCV001463482
dbSNP Id:
rs755586346
ExAC:
16:79245606 A / G
gnomAD v2:
16-79245606-A-G
gnomAD v4:
16-79211709-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211709A>G , CM000678.2:g.79211709A>G | GRCh38 |
| NC_000016.9:g.79245606A>G , CM000678.1:g.79245606A>G | GRCh37 |
| NC_000016.8:g.77803107A>G | NCBI36 |
| NG_011698.1:g.1117056A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*272A>G (WWOX) | ENSP00000507689.1:n.*272A>G | |
| ENST00000566780.6:c.1158A>G (WWOX) MANE Select | ENSP00000457230.1:p.Pro386= | |
| ENST00000402655.6:c.511A>G (WWOX) | ENSP00000384238.2:p.Arg171Gly | |
| ENST00000406884.6:c.618A>G (WWOX) | ENSP00000384495.2:p.Pro206= | |
| ENST00000539474.6:c.587A>G (WWOX) | ENSP00000445210.2:p.Gln196Arg | |
| ENST00000566103.1:n.225A>G (WWOX) | ||
| ENST00000566780.5:c.1158A>G (WWOX) | ENSP00000457230.1:p.Pro386= | |
| ENST00000569332.5:c.*955A>G (WWOX) | ENSP00000454788.1:n.*955A>G | |
| NM_001291997.1:c.819A>G (WWOX) | NP_001278926.1:p.Pro273= | |
| NM_016373.3:c.1158A>G (WWOX) | NP_057457.1:p.Pro386= | |
| XM_011523100.1:c.1254A>G (WWOX) | XP_011521402.1:p.Pro418= | |
| XM_011523103.3:c.*130A>G (WWOX) | XP_011521405.1:n.*130A>G | |
| XM_017023279.1:c.244A>G (WWOX) | XP_016878768.1:p.Arg82Gly | |
| XM_024450279.1:c.*1221T>C (MAF) | XP_024306047.1:n.*1221T>C | |
| XR_001751902.2:n.4423T>C (MAF) | ||
| XR_002957802.1:n.4423T>C (MAF) | ||
| XR_002957803.1:n.4423T>C (MAF) | ||
| XR_002957804.1:n.4423T>C (MAF) | ||
| NM_016373.4:c.1158A>G (WWOX) MANE Select | NP_057457.1:p.Pro386= | |
| NM_001291997.2:c.819A>G (WWOX) | NP_001278926.1:p.Pro273= |