Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4675114C>T , CM000682.2:g.4675114C>T | GRCh38 |
| NC_000020.10:g.4655760C>T , CM000682.1:g.4655760C>T | GRCh37 |
| NC_000020.9:g.4603760C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652447.1:n.87+9948G>A |