Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764849G>A , CM000665.2:g.169764849G>A | GRCh38 |
| NC_000003.11:g.169482637G>A , CM000665.1:g.169482637G>A | GRCh37 |
| NC_000003.10:g.170965331G>A | NCBI36 |
| NG_016363.1:g.5212C>T , LRG_347:g.5212C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001566.1:n.212C>T , LRG_347t1:n.212C>T |