Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430940G>C , CM000663.2:g.229430940G>C | GRCh38 |
| NC_000001.10:g.229566687G>C , CM000663.1:g.229566687G>C | GRCh37 |
| NC_000001.9:g.227633310G>C | NCBI36 |
| NG_006672.1:g.8157C>G , LRG_429:g.8157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*559C>G | ENSP00000508084.1:n.*559C>G |