Linked Data
ClinVar Variation Id:
208467
ClinVar RCV Id:
RCV000190490
dbSNP Id:
rs754099015
ExAC:
15:85186799 G / A
gnomAD v2:
15-85186799-G-A
gnomAD v4:
15-84643568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84643568G>A , CM000677.2:g.84643568G>A | GRCh38 |
| NC_000015.9:g.85186799G>A , CM000677.1:g.85186799G>A | GRCh37 |
| NC_000015.8:g.82987803G>A | NCBI36 |
| NG_042034.1:g.15776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434634.7:c.1039C>T (WDR73) MANE Select | ENSP00000387982.3:p.His347Tyr | |
| ENST00000348993.9:n.5065G>A (SCAND2P) | ||
| ENST00000398528.7:n.1115C>T (WDR73) | ||
| ENST00000434634.6:c.1039C>T (WDR73) | ENSP00000387982.2:p.His347Tyr | |
| ENST00000558608.1:n.1731C>T (WDR73) | ||
| ENST00000559015.5:n.1627C>T (WDR73) | ||
| ENST00000559126.5:n.1545C>T (WDR73) | ||
| ENST00000559994.5:n.1263C>T (WDR73) | ||
| NM_032856.3:c.1039C>T (WDR73) | NP_116245.2:p.His347Tyr | |
| NR_130944.1:n.1545C>T (WDR73) | ||
| NR_130945.1:n.1221C>T (WDR73) | ||
| NR_130946.1:n.1115C>T (WDR73) | ||
| NR_130947.1:n.1019C>T (WDR73) | ||
| XR_243214.1:n.1266C>T (WDR73) | ||
| XR_001751407.2:n.1284C>T (WDR73) | ||
| XR_001751408.2:n.1304C>T (WDR73) | ||
| XR_243214.3:n.1266C>T (WDR73) | ||
| NM_032856.5:c.1039C>T (WDR73) MANE Select | NP_116245.2:p.His347Tyr | |
| NR_130944.2:n.1582C>T (WDR73) | ||
| NR_130945.2:n.1161C>T (WDR73) | ||
| NR_130946.2:n.1055C>T (WDR73) | ||
| NR_130947.2:n.959C>T (WDR73) |