Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55038390G>A , CM000681.2:g.55038390G>A | GRCh38 |
| NC_000019.8:g.60241570G>A | NCBI36 |
| NG_031963.2:g.4875C>T , LRG_560:g.4875C>T | |
| NG_052825.1:g.37902C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001754012.2:n.313-4410G>A | |
| XR_001754013.2:n.306-4410G>A |