Linked Data
ClinVar Variation Id:
362775
ClinVar RCV Id:
RCV000286259
dbSNP Id:
rs7017069
gnomAD v2:
8-30890948-C-G
gnomAD v3:
8-31033432-C-G
gnomAD v4:
8-31033432-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033432C>G , CM000670.2:g.31033432C>G | GRCh38 |
| NC_000008.10:g.30890948C>G , CM000670.1:g.30890948C>G | GRCh37 |
| NC_000008.9:g.31010490C>G | NCBI36 |
| NG_008870.1:g.5171C>G , LRG_524:g.5171C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475541.2:c.-650G>C (PURG) | ENSP00000418721.1:n.-650G>C | |
| ENST00000339382.3:c.-650G>C (PURG) | ENSP00000345168.2:n.-650G>C | |
| ENST00000475541.1:c.-650G>C (PURG) | ENSP00000418721.1:n.-650G>C | |
| NM_000553.4:c.-618C>G , LRG_524t1:c.-618C>G (WRN) | NP_000544.2:n.-618C>G | |
| NM_001015508.2:c.-650G>C (PURG) | NP_001015508.1:n.-650G>C | |
| NM_000553.5:c.-618C>G (WRN) | NP_000544.2:n.-618C>G |