Linked Data
ClinVar Variation Id:
1093818
ClinVar RCV Id:
RCV001414125
dbSNP Id:
rs755448649
ExAC:
16:79245534 T / C
gnomAD v2:
16-79245534-T-C
gnomAD v4:
16-79211637-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211637T>C , CM000678.2:g.79211637T>C | GRCh38 |
| NC_000016.9:g.79245534T>C , CM000678.1:g.79245534T>C | GRCh37 |
| NC_000016.8:g.77803035T>C | NCBI36 |
| NG_011698.1:g.1116984T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*200T>C (WWOX) | ENSP00000507689.1:n.*200T>C | |
| ENST00000566780.6:c.1086T>C (WWOX) MANE Select | ENSP00000457230.1:p.Cys362= | |
| ENST00000402655.6:c.439T>C (WWOX) | ENSP00000384238.2:p.Cys147Arg | |
| ENST00000406884.6:c.546T>C (WWOX) | ENSP00000384495.2:p.Cys182= | |
| ENST00000539474.6:c.515T>C (WWOX) | ENSP00000445210.2:p.Val172Ala | |
| ENST00000566103.1:n.153T>C (WWOX) | ||
| ENST00000566780.5:c.1086T>C (WWOX) | ENSP00000457230.1:p.Cys362= | |
| ENST00000569332.5:c.*883T>C (WWOX) | ENSP00000454788.1:n.*883T>C | |
| NM_001291997.1:c.747T>C (WWOX) | NP_001278926.1:p.Cys249= | |
| NM_016373.3:c.1086T>C (WWOX) | NP_057457.1:p.Cys362= | |
| XM_011523100.1:c.1182T>C (WWOX) | XP_011521402.1:p.Cys394= | |
| XM_011523103.1:c.*58T>C (WWOX) | XP_011521405.1:n.*58T>C | |
| XM_011523103.3:c.*58T>C (WWOX) | XP_011521405.1:n.*58T>C | |
| XM_017023279.1:c.172T>C (WWOX) | XP_016878768.1:p.Cys58Arg | |
| XM_024450279.1:c.*1293A>G (MAF) | XP_024306047.1:n.*1293A>G | |
| XR_001751902.2:n.4495A>G (MAF) | ||
| XR_002957802.1:n.4495A>G (MAF) | ||
| XR_002957803.1:n.4495A>G (MAF) | ||
| XR_002957804.1:n.4495A>G (MAF) | ||
| NM_016373.4:c.1086T>C (WWOX) MANE Select | NP_057457.1:p.Cys362= | |
| NM_001291997.2:c.747T>C (WWOX) | NP_001278926.1:p.Cys249= |