Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016646G= , CM000682.2:g.46016646G= | GRCh38 |
| NC_000020.10:g.44645285G= , CM000682.1:g.44645285G= | GRCh37 |
| NC_000020.9:g.44078692G= | NCBI36 |
| NG_011468.1:g.12739G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147699.1:n.669-1858C= |