Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764738G>C , CM000665.2:g.169764738G>C | GRCh38 |
| NC_000003.11:g.169482526G>C , CM000665.1:g.169482526G>C | GRCh37 |
| NC_000003.10:g.170965220G>C | NCBI36 |
| NG_016363.1:g.5323C>G , LRG_347:g.5323C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001566.1:n.323C>G , LRG_347t1:n.323C>G |