Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.22413495C>T , CM000674.2:g.22413495C>T | GRCh38 |
| NC_000012.11:g.22566429C>T , CM000674.1:g.22566429C>T | GRCh37 |
| NC_000012.10:g.22457696C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536558.5:n.166+23381G>A |