Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44110055C>A , CM000681.2:g.44110055C>A | GRCh38 |
| NC_000019.9:g.44614208C>A , CM000681.1:g.44614208C>A | GRCh37 |
| NC_000019.8:g.49306048C>A | NCBI36 |
| NG_051221.1:g.20727C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033341.1:n.363-1718G>T |