Linked Data
ClinVar Variation Id:
415951
dbSNP Id:
rs372635911
ExAC:
16:79245618 C / T
gnomAD v2:
16-79245618-C-T
gnomAD v3:
16-79211721-C-T
gnomAD v4:
16-79211721-C-T
COSMIC:
COSM121086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211721C>T , CM000678.2:g.79211721C>T | GRCh38 |
| NC_000016.9:g.79245618C>T , CM000678.1:g.79245618C>T | GRCh37 |
| NC_000016.8:g.77803119C>T | NCBI36 |
| NG_011698.1:g.1117068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*284C>T (WWOX) | ENSP00000507689.1:n.*284C>T | |
| ENST00000566780.6:c.1170C>T (WWOX) MANE Select | ENSP00000457230.1:p.Ser390= | |
| ENST00000402655.6:c.523C>T (WWOX) | ENSP00000384238.2:p.Arg175Ter | |
| ENST00000406884.6:c.630C>T (WWOX) | ENSP00000384495.2:p.Ser210= | |
| ENST00000539474.6:c.599C>T (WWOX) | ENSP00000445210.2:p.Ala200Val | |
| ENST00000566103.1:n.237C>T (WWOX) | ||
| ENST00000566780.5:c.1170C>T (WWOX) | ENSP00000457230.1:p.Ser390= | |
| ENST00000569332.5:c.*967C>T (WWOX) | ENSP00000454788.1:n.*967C>T | |
| NM_001291997.1:c.831C>T (WWOX) | NP_001278926.1:p.Ser277= | |
| NM_016373.3:c.1170C>T (WWOX) | NP_057457.1:p.Ser390= | |
| XM_011523100.1:c.1266C>T (WWOX) | XP_011521402.1:p.Ser422= | |
| XM_011523103.3:c.*142C>T (WWOX) | XP_011521405.1:n.*142C>T | |
| XM_017023279.1:c.256C>T (WWOX) | XP_016878768.1:p.Arg86Ter | |
| XM_024450279.1:c.*1209G>A (MAF) | XP_024306047.1:n.*1209G>A | |
| XR_001751902.2:n.4411G>A (MAF) | ||
| XR_002957802.1:n.4411G>A (MAF) | ||
| XR_002957803.1:n.4411G>A (MAF) | ||
| XR_002957804.1:n.4411G>A (MAF) | ||
| NM_016373.4:c.1170C>T (WWOX) MANE Select | NP_057457.1:p.Ser390= | |
| NM_001291997.2:c.831C>T (WWOX) | NP_001278926.1:p.Ser277= |