Linked Data
ClinVar Variation Id:
571723
ClinVar RCV Id:
RCV000692946
dbSNP Id:
rs143302415
ExAC:
16:79245502 C / T
gnomAD v2:
16-79245502-C-T
gnomAD v3:
16-79211605-C-T
gnomAD v4:
16-79211605-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211605C>T , CM000678.2:g.79211605C>T | GRCh38 |
| NC_000016.9:g.79245502C>T , CM000678.1:g.79245502C>T | GRCh37 |
| NC_000016.8:g.77803003C>T | NCBI36 |
| NG_011698.1:g.1116952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*171-3C>T (WWOX) | ENSP00000507689.1:n.*171-3C>T | |
| ENST00000566780.6:c.1057-3C>T (WWOX) MANE Select | ENSP00000457230.1:n.1057-3C>T | |
| ENST00000402655.6:c.410-3C>T (WWOX) | ENSP00000384238.2:n.410-3C>T | |
| ENST00000406884.6:c.517-3C>T (WWOX) | ENSP00000384495.2:n.517-3C>T | |
| ENST00000539474.6:c.486-3C>T (WWOX) | ENSP00000445210.2:n.486-3C>T | |
| ENST00000566103.1:n.124-3C>T (WWOX) | ||
| ENST00000566780.5:c.1057-3C>T (WWOX) | ENSP00000457230.1:n.1057-3C>T | |
| ENST00000569332.5:c.*854-3C>T (WWOX) | ENSP00000454788.1:n.*854-3C>T | |
| NM_001291997.1:c.718-3C>T (WWOX) | NP_001278926.1:n.718-3C>T | |
| NM_016373.3:c.1057-3C>T (WWOX) | NP_057457.1:n.1057-3C>T | |
| XM_011523100.1:c.1153-3C>T (WWOX) | XP_011521402.1:n.1153-3C>T | |
| XM_011523103.1:c.*29-3C>T (WWOX) | XP_011521405.1:n.*29-3C>T | |
| XM_011523103.3:c.*29-3C>T (WWOX) | XP_011521405.1:n.*29-3C>T | |
| XM_017023279.1:c.143-3C>T (WWOX) | XP_016878768.1:n.143-3C>T | |
| XM_024450279.1:c.*1325G>A (MAF) | XP_024306047.1:n.*1325G>A | |
| XR_001751902.2:n.4527G>A (MAF) | ||
| XR_002957802.1:n.4527G>A (MAF) | ||
| XR_002957803.1:n.4527G>A (MAF) | ||
| XR_002957804.1:n.4527G>A (MAF) | ||
| NM_016373.4:c.1057-3C>T (WWOX) MANE Select | NP_057457.1:n.1057-3C>T | |
| NM_001291997.2:c.718-3C>T (WWOX) | NP_001278926.1:n.718-3C>T |