Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764833C>A , CM000665.2:g.169764833C>A | GRCh38 |
| NC_000003.11:g.169482621C>A , CM000665.1:g.169482621C>A | GRCh37 |
| NC_000003.10:g.170965315C>A | NCBI36 |
| NG_016363.1:g.5228G>T , LRG_347:g.5228G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001566.1:n.228G>T , LRG_347t1:n.228G>T |