Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764848A>C , CM000665.2:g.169764848A>C | GRCh38 |
| NC_000003.11:g.169482636A>C , CM000665.1:g.169482636A>C | GRCh37 |
| NC_000003.10:g.170965330A>C | NCBI36 |
| NG_016363.1:g.5213T>G , LRG_347:g.5213T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001566.1:n.213T>G , LRG_347t1:n.213T>G |