Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73811584A= , CM000679.2:g.73811584A= | GRCh38 |
| NC_000017.10:g.71807723A= , CM000679.1:g.71807723A= | GRCh37 |
| NC_000017.9:g.69319318A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_027146.1:n.228+12104T= |