Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764944T>G , CM000665.2:g.169764944T>G | GRCh38 |
| NC_000003.11:g.169482732T>G , CM000665.1:g.169482732T>G | GRCh37 |
| NC_000003.10:g.170965426T>G | NCBI36 |
| NG_016363.1:g.5117A>C , LRG_347:g.5117A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001566.1:n.117A>C , LRG_347t1:n.117A>C |