Linked Data
ClinVar Variation Id:
383124
ClinVar RCV Id:
RCV000526819
RCV000443836
RCV000602793
RCV002244894
RCV002244895
RCV003333985
RCV002502527
dbSNP Id:
rs201088847
ExAC:
16:79245582 C / T
gnomAD v2:
16-79245582-C-T
gnomAD v3:
16-79211685-C-T
gnomAD v4:
16-79211685-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79211685C>T , CM000678.2:g.79211685C>T | GRCh38 |
| NC_000016.9:g.79245582C>T , CM000678.1:g.79245582C>T | GRCh37 |
| NC_000016.8:g.77803083C>T | NCBI36 |
| NG_011698.1:g.1117032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683929.1:c.*248C>T (WWOX) | ENSP00000507689.1:n.*248C>T | |
| ENST00000566780.6:c.1134C>T (WWOX) MANE Select | ENSP00000457230.1:p.Asn378= | |
| ENST00000402655.6:c.487C>T (WWOX) | ENSP00000384238.2:p.Leu163= | |
| ENST00000406884.6:c.594C>T (WWOX) | ENSP00000384495.2:p.Asn198= | |
| ENST00000539474.6:c.563C>T (WWOX) | ENSP00000445210.2:p.Thr188Ile | |
| ENST00000566103.1:n.201C>T (WWOX) | ||
| ENST00000566780.5:c.1134C>T (WWOX) | ENSP00000457230.1:p.Asn378= | |
| ENST00000569332.5:c.*931C>T (WWOX) | ENSP00000454788.1:n.*931C>T | |
| NM_001291997.1:c.795C>T (WWOX) | NP_001278926.1:p.Asn265= | |
| NM_016373.3:c.1134C>T (WWOX) | NP_057457.1:p.Asn378= | |
| XM_011523100.1:c.1230C>T (WWOX) | XP_011521402.1:p.Asn410= | |
| XM_011523103.3:c.*106C>T (WWOX) | XP_011521405.1:n.*106C>T | |
| XM_017023279.1:c.220C>T (WWOX) | XP_016878768.1:p.Leu74= | |
| XM_024450279.1:c.*1245G>A (MAF) | XP_024306047.1:n.*1245G>A | |
| XR_001751902.2:n.4447G>A (MAF) | ||
| XR_002957802.1:n.4447G>A (MAF) | ||
| XR_002957803.1:n.4447G>A (MAF) | ||
| XR_002957804.1:n.4447G>A (MAF) | ||
| NM_016373.4:c.1134C>T (WWOX) MANE Select | NP_057457.1:p.Asn378= | |
| NM_001291997.2:c.795C>T (WWOX) | NP_001278926.1:p.Asn265= |