Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764844C>A , CM000665.2:g.169764844C>A | GRCh38 |
| NC_000003.11:g.169482632C>A , CM000665.1:g.169482632C>A | GRCh37 |
| NC_000003.10:g.170965326C>A | NCBI36 |
| NG_016363.1:g.5217G>T , LRG_347:g.5217G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001566.1:n.217G>T , LRG_347t1:n.217G>T |