Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.47630754A>G , CM000680.2:g.47630754A>G | GRCh38 |
| NC_000018.9:g.45157125A>G , CM000680.1:g.45157125A>G | GRCh37 |
| NC_000018.8:g.43411123A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592307.1:n.643A>G |