Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345173A= , CM000663.2:g.218345173A= | GRCh38 |
| NC_000001.10:g.218518515A= , CM000663.1:g.218518515A= | GRCh37 |
| NC_000001.9:g.216585138A= | NCBI36 |
| NG_027721.1:g.4840A= | |
| NG_027721.2:g.4840A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046268.1:n.290+2T= |