Linked Data
ClinVar Variation Id:
222025
ClinVar RCV Id:
RCV000207473
dbSNP Id:
rs869025323
gnomAD v4:
4-88523797-C-T
PubMed:
PMID:26293662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88523797C>T , CM000666.2:g.88523797C>T | GRCh38 |
| NC_000004.11:g.89444948C>T , CM000666.1:g.89444948C>T | GRCh37 |
| NC_000004.10:g.89663971C>T | NCBI36 |
| NG_046719.1:g.5005G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273968.4:c.-97G>A (PYURF) | ENSP00000273968.4:n.-97G>A | |
| ENST00000601319.1:n.1282C>T (HERC3) | ||
| NM_001042616.2:c.-540G>A (PIGY) | NP_001036081.1:n.-540G>A | |
| NM_032906.4:c.-97G>A (PYURF) | NP_116295.1:n.-97G>A |