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