Linked Data
ClinVar Variation Id:
13812
ClinVar RCV Id:
RCV000014823
dbSNP Id:
rs104894653
PubMed:
PMID:14872406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46773743G>A , CM000679.2:g.46773743G>A | GRCh38 |
| NC_000017.10:g.44851109G>A , CM000679.1:g.44851109G>A | GRCh37 |
| NC_000017.9:g.42206272G>A | NCBI36 |
| NG_008084.2:g.49974C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706495.1:c.52C>T (WNT3) | ENSP00000516418.1:p.Gln18Ter | |
| ENST00000225512.6:c.247C>T (WNT3) MANE Select | ENSP00000225512.5:p.Gln83Ter | |
| ENST00000225512.5:c.247C>T (WNT3) | ENSP00000225512.5:p.Gln83Ter | |
| NM_030753.4:c.247C>T (WNT3) | NP_110380.1:p.Gln83Ter | |
| XM_024450773.1:c.4809+223224G>A (LRRC37A2) | XP_024306541.1:n.4809+223224G>A | |
| NM_030753.5:c.247C>T (WNT3) MANE Select | NP_110380.1:p.Gln83Ter |