Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345133C= , CM000663.2:g.218345133C= | GRCh38 |
| NC_000001.10:g.218518475C= , CM000663.1:g.218518475C= | GRCh37 |
| NC_000001.9:g.216585098C= | NCBI36 |
| NG_027721.1:g.4800C= | |
| NG_027721.2:g.4800C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046268.1:n.290+42G= |