Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4684616A>G , CM000682.2:g.4684616A>G | GRCh38 |
| NC_000020.10:g.4665262A>G , CM000682.1:g.4665262A>G | GRCh37 |
| NC_000020.9:g.4613262A>G | NCBI36 |
| NG_009087.1:g.3466A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000652447.1:n.87+446T>C |