Linked Data
ClinVar Variation Id:
286082
dbSNP Id:
rs148902716
ExAC:
17:44847308 C / T
gnomAD v2:
17-44847308-C-T
gnomAD v3:
17-46769942-C-T
gnomAD v4:
17-46769942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46769942C>T , CM000679.2:g.46769942C>T | GRCh38 |
| NC_000017.10:g.44847308C>T , CM000679.1:g.44847308C>T | GRCh37 |
| NC_000017.9:g.42202476C>T | NCBI36 |
| NG_008084.2:g.53775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706483.1:c.-127G>A (WNT3) | ENSP00000516407.1:n.-127G>A | |
| ENST00000706484.1:c.-127G>A (WNT3) | ENSP00000516408.1:n.-127G>A | |
| ENST00000706485.1:c.-127G>A (WNT3) | ENSP00000516409.1:n.-127G>A | |
| ENST00000706495.1:c.234G>A (WNT3) | ENSP00000516418.1:p.Ser78= | |
| ENST00000225512.6:c.429G>A (WNT3) MANE Select | ENSP00000225512.5:p.Ser143= | |
| ENST00000225512.5:c.429G>A (WNT3) | ENSP00000225512.5:p.Ser143= | |
| NM_030753.4:c.429G>A (WNT3) | NP_110380.1:p.Ser143= | |
| XM_024450773.1:c.4809+219423C>T (LRRC37A2) | XP_024306541.1:n.4809+219423C>T | |
| NM_030753.5:c.429G>A (WNT3) MANE Select | NP_110380.1:p.Ser143= |