Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46448270A>G , CM000682.2:g.46448270A>G | GRCh38 |
| NC_000020.10:g.45076909A>G , CM000682.1:g.45076909A>G | GRCh37 |
| NC_000020.9:g.44510316A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000400371.2:n.1985+7625T>C |