Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033414G>C , CM000670.2:g.31033414G>C | GRCh38 |
| NC_000008.10:g.30890930G>C , CM000670.1:g.30890930G>C | GRCh37 |
| NC_000008.9:g.31010472G>C | NCBI36 |
| NG_008870.1:g.5153G>C , LRG_524:g.5153G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475541.2:c.-632C>G (PURG) | ENSP00000418721.1:n.-632C>G | |
| ENST00000339382.3:c.-632C>G (PURG) | ENSP00000345168.2:n.-632C>G | |
| ENST00000475541.1:c.-632C>G (PURG) | ENSP00000418721.1:n.-632C>G | |
| NM_000553.4:c.-636G>C , LRG_524t1:c.-636G>C (WRN) | NP_000544.2:n.-636G>C | |
| NM_001015508.2:c.-632C>G (PURG) | NP_001015508.1:n.-632C>G | |
| NM_000553.5:c.-636G>C (WRN) | NP_000544.2:n.-636G>C |