Linked Data
ClinVar Variation Id:
362771
ClinVar RCV Id:
RCV000374756
dbSNP Id:
rs578121063
gnomAD v2:
8-30890867-G-C
gnomAD v3:
8-31033351-G-C
gnomAD v4:
8-31033351-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033351G>C , CM000670.2:g.31033351G>C | GRCh38 |
| NC_000008.10:g.30890867G>C , CM000670.1:g.30890867G>C | GRCh37 |
| NC_000008.9:g.31010409G>C | NCBI36 |
| NG_008870.1:g.5090G>C , LRG_524:g.5090G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475541.2:c.-569C>G (PURG) | ENSP00000418721.1:n.-569C>G | |
| ENST00000523392.2:c.-280C>G (PURG) MANE Select | ENSP00000466881.2:n.-280C>G | |
| ENST00000339382.3:c.-569C>G (PURG) | ENSP00000345168.2:n.-569C>G | |
| ENST00000475541.1:c.-569C>G (PURG) | ENSP00000418721.1:n.-569C>G | |
| NM_000553.4:c.-699G>C , LRG_524t1:c.-699G>C (WRN) | NP_000544.2:n.-699G>C | |
| NM_001015508.2:c.-569C>G (PURG) | NP_001015508.1:n.-569C>G | |
| NM_000553.5:c.-699G>C (WRN) | NP_000544.2:n.-699G>C | |
| NM_001015508.3:c.-569C>G (PURG) | NP_001015508.1:n.-569C>G | |
| NM_001323312.2:c.-280C>G (PURG) | NP_001310241.1:n.-280C>G | |
| NM_001323311.2:c.-280C>G (PURG) MANE Select | NP_001310240.1:n.-280C>G |