Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430969C>A , CM000663.2:g.229430969C>A | GRCh38 |
| NC_000001.10:g.229566716C>A , CM000663.1:g.229566716C>A | GRCh37 |
| NC_000001.9:g.227633339C>A | NCBI36 |
| NG_006672.1:g.8128G>T , LRG_429:g.8128G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*530G>T | ENSP00000508084.1:n.*530G>T |