Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345151C= , CM000663.2:g.218345151C= | GRCh38 |
| NC_000001.10:g.218518493C= , CM000663.1:g.218518493C= | GRCh37 |
| NC_000001.9:g.216585116C= | NCBI36 |
| NG_027721.1:g.4818C= | |
| NG_027721.2:g.4818C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046268.1:n.290+24G= |