Linked Data
ClinVar Variation Id:
362773
ClinVar RCV Id:
RCV000335390
dbSNP Id:
rs886062874
gnomAD v4:
8-31033373-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033373G>T , CM000670.2:g.31033373G>T | GRCh38 |
| NC_000008.10:g.30890889G>T , CM000670.1:g.30890889G>T | GRCh37 |
| NC_000008.9:g.31010431G>T | NCBI36 |
| NG_008870.1:g.5112G>T , LRG_524:g.5112G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475541.2:c.-591C>A (PURG) | ENSP00000418721.1:n.-591C>A | |
| ENST00000339382.3:c.-591C>A (PURG) | ENSP00000345168.2:n.-591C>A | |
| ENST00000475541.1:c.-591C>A (PURG) | ENSP00000418721.1:n.-591C>A | |
| NM_000553.4:c.-677G>T , LRG_524t1:c.-677G>T (WRN) | NP_000544.2:n.-677G>T | |
| NM_001015508.2:c.-591C>A (PURG) | NP_001015508.1:n.-591C>A | |
| NM_000553.5:c.-677G>T (WRN) | NP_000544.2:n.-677G>T |