Linked Data
ClinVar Variation Id:
362776
ClinVar RCV Id:
RCV000343512
dbSNP Id:
rs11574155
gnomAD v2:
8-30890961-C-A
gnomAD v3:
8-31033445-C-A
gnomAD v4:
8-31033445-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033445C>A , CM000670.2:g.31033445C>A | GRCh38 |
| NC_000008.10:g.30890961C>A , CM000670.1:g.30890961C>A | GRCh37 |
| NC_000008.9:g.31010503C>A | NCBI36 |
| NG_008870.1:g.5184C>A , LRG_524:g.5184C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475541.2:c.-663G>T (PURG) | ENSP00000418721.1:n.-663G>T | |
| ENST00000339382.3:c.-663G>T (PURG) | ENSP00000345168.2:n.-663G>T | |
| ENST00000475541.1:c.-663G>T (PURG) | ENSP00000418721.1:n.-663G>T | |
| NM_000553.4:c.-605C>A , LRG_524t1:c.-605C>A (WRN) | NP_000544.2:n.-605C>A | |
| NM_001015508.2:c.-663G>T (PURG) | NP_001015508.1:n.-663G>T | |
| NM_000553.5:c.-605C>A (WRN) | NP_000544.2:n.-605C>A |