Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430967G= , CM000663.2:g.229430967G= | GRCh38 |
| NC_000001.10:g.229566714G= , CM000663.1:g.229566714G= | GRCh37 |
| NC_000001.9:g.227633337G= | NCBI36 |
| NG_006672.1:g.8130C= , LRG_429:g.8130C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*532C= | ENSP00000508084.1:n.*532C= |