Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345115A= , CM000663.2:g.218345115A= | GRCh38 |
| NC_000001.10:g.218518457A= , CM000663.1:g.218518457A= | GRCh37 |
| NC_000001.9:g.216585080A= | NCBI36 |
| NG_027721.1:g.4782A= | |
| NG_027721.2:g.4782A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046268.1:n.290+60T= |