Linked Data
ClinVar Variation Id:
2007335
ClinVar RCV Id:
RCV002842241
dbSNP Id:
rs2051761780
gnomAD v3:
16-79211733-C-G
gnomAD v4:
16-79211733-C-G
COSMIC:
COSM704689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211733C>G , CM000678.2:g.79211733C>G | GRCh38 |
| NC_000016.9:g.79245630C>G , CM000678.1:g.79245630C>G | GRCh37 |
| NC_000016.8:g.77803131C>G | NCBI36 |
| NG_011698.1:g.1117080C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*296C>G (WWOX) | ENSP00000507689.1:n.*296C>G | |
| ENST00000566780.6:c.1182C>G (WWOX) MANE Select | ENSP00000457230.1:p.Ala394= | |
| ENST00000402655.6:c.535C>G (WWOX) | ENSP00000384238.2:p.Pro179Ala | |
| ENST00000406884.6:c.642C>G (WWOX) | ENSP00000384495.2:p.Ala214= | |
| ENST00000539474.6:c.611C>G (WWOX) | ENSP00000445210.2:p.Pro204Arg | |
| ENST00000566103.1:n.249C>G (WWOX) | ||
| ENST00000566780.5:c.1182C>G (WWOX) | ENSP00000457230.1:p.Ala394= | |
| ENST00000569332.5:c.*979C>G (WWOX) | ENSP00000454788.1:n.*979C>G | |
| NM_001291997.1:c.843C>G (WWOX) | NP_001278926.1:p.Ala281= | |
| NM_016373.3:c.1182C>G (WWOX) | NP_057457.1:p.Ala394= | |
| XM_011523100.1:c.1278C>G (WWOX) | XP_011521402.1:p.Ala426= | |
| XM_011523103.3:c.*154C>G (WWOX) | XP_011521405.1:n.*154C>G | |
| XM_017023279.1:c.268C>G (WWOX) | XP_016878768.1:p.Pro90Ala | |
| XM_024450279.1:c.*1197G>C (MAF) | XP_024306047.1:n.*1197G>C | |
| XR_001751902.2:n.4399G>C (MAF) | ||
| XR_002957802.1:n.4399G>C (MAF) | ||
| XR_002957803.1:n.4399G>C (MAF) | ||
| XR_002957804.1:n.4399G>C (MAF) | ||
| NM_016373.4:c.1182C>G (WWOX) MANE Select | NP_057457.1:p.Ala394= | |
| NM_001291997.2:c.843C>G (WWOX) | NP_001278926.1:p.Ala281= |