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