Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.67618042A>G , CM000680.2:g.67618042A>G | GRCh38 |
| NC_000018.9:g.65285279A>G , CM000680.1:g.65285279A>G | GRCh37 |
| NC_000018.8:g.63436259A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033921.1:n.204+101293A>G | |
| XR_935590.1:n.76+5746T>C | |
| XR_935590.2:n.2632+5746T>C |