Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430968C>T , CM000663.2:g.229430968C>T | GRCh38 |
| NC_000001.10:g.229566715C>T , CM000663.1:g.229566715C>T | GRCh37 |
| NC_000001.9:g.227633338C>T | NCBI36 |
| NG_006672.1:g.8129G>A , LRG_429:g.8129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*531G>A | ENSP00000508084.1:n.*531G>A |