Linked Data
ClinVar Variation Id:
208465
dbSNP Id:
rs797044992
gnomAD v3:
15-84645651-G-A
gnomAD v4:
15-84645651-G-A
PubMed:
PMID:25873735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84645651G>A , CM000677.2:g.84645651G>A | GRCh38 |
| NC_000015.9:g.85188882G>A , CM000677.1:g.85188882G>A | GRCh37 |
| NC_000015.8:g.82989886G>A | NCBI36 |
| NG_042034.1:g.13693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434634.7:c.703C>T (WDR73) MANE Select | ENSP00000387982.3:p.Gln235Ter | |
| ENST00000348993.9:n.7148G>A (SCAND2P) | ||
| ENST00000398528.7:n.779C>T (WDR73) | ||
| ENST00000434634.6:c.703C>T (WDR73) | ENSP00000387982.2:p.Gln235Ter | |
| ENST00000558521.5:c.815C>T (WDR73) | ||
| ENST00000558608.1:n.1395C>T (WDR73) | ||
| ENST00000559015.5:n.1291C>T (WDR73) | ||
| ENST00000559126.5:n.1209C>T (WDR73) | ||
| ENST00000559224.5:c.606C>T (WDR73) | ||
| ENST00000559452.5:n.1167C>T (WDR73) | ||
| ENST00000559994.5:n.927C>T (WDR73) | ||
| ENST00000560966.5:n.4375C>T (WDR73) | ||
| NM_032856.3:c.703C>T (WDR73) | NP_116245.2:p.Gln235Ter | |
| NR_130944.1:n.1209C>T (WDR73) | ||
| NR_130945.1:n.885C>T (WDR73) | ||
| NR_130946.1:n.779C>T (WDR73) | ||
| NR_130947.1:n.683C>T (WDR73) | ||
| XR_243214.1:n.930C>T (WDR73) | ||
| XR_001751407.2:n.712C>T (WDR73) | ||
| XR_001751408.2:n.968C>T (WDR73) | ||
| XR_243214.3:n.930C>T (WDR73) | ||
| NM_032856.5:c.703C>T (WDR73) MANE Select | NP_116245.2:p.Gln235Ter | |
| NR_130944.2:n.1246C>T (WDR73) | ||
| NR_130945.2:n.825C>T (WDR73) | ||
| NR_130946.2:n.719C>T (WDR73) | ||
| NR_130947.2:n.623C>T (WDR73) |