Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46453332A>G , CM000682.2:g.46453332A>G | GRCh38 |
| NC_000020.10:g.45081971A>G , CM000682.1:g.45081971A>G | GRCh37 |
| NC_000020.9:g.44515378A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400371.2:n.1985+2563T>C |