Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692526G>C , CM000679.2:g.58692526G>C | GRCh38 |
| NC_000017.10:g.56769887G>C , CM000679.1:g.56769887G>C | GRCh37 |
| NC_000017.9:g.54124886G>C | NCBI36 |
| NG_023199.1:g.4925G>C , LRG_314:g.4925G>C | |
| NG_047169.1:g.4554C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_006722001.4:c.-118G>C | XP_006722064.1:n.-118G>C |
| XM_006722002.4:c.-118G>C | XP_006722065.1:n.-118G>C |
| XR_934513.3:n.387G>C | |
| XR_934514.3:n.387G>C |