Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.22413336C= , CM000674.2:g.22413336C= | GRCh38 |
| NC_000012.11:g.22566270C= , CM000674.1:g.22566270C= | GRCh37 |
| NC_000012.10:g.22457537C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536558.5:n.166+23540G= |