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