Linked Data
ClinVar Variation Id:
1481339
ClinVar RCV Id:
RCV001994157
dbSNP Id:
rs780778750
ExAC:
17:44851046 C / T
gnomAD v2:
17-44851046-C-T
gnomAD v3:
17-46773680-C-T
gnomAD v4:
17-46773680-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46773680C>T , CM000679.2:g.46773680C>T | GRCh38 |
| NC_000017.10:g.44851046C>T , CM000679.1:g.44851046C>T | GRCh37 |
| NC_000017.9:g.42206209C>T | NCBI36 |
| NG_008084.2:g.50037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706495.1:c.115G>A (WNT3) | ENSP00000516418.1:p.Val39Ile | |
| ENST00000225512.6:c.310G>A (WNT3) MANE Select | ENSP00000225512.5:p.Val104Ile | |
| ENST00000225512.5:c.310G>A (WNT3) | ENSP00000225512.5:p.Val104Ile | |
| NM_030753.4:c.310G>A (WNT3) | NP_110380.1:p.Val104Ile | |
| XM_024450773.1:c.4809+223161C>T (LRRC37A2) | XP_024306541.1:n.4809+223161C>T | |
| NM_030753.5:c.310G>A (WNT3) MANE Select | NP_110380.1:p.Val104Ile |