Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.6567183A>C , CM000680.2:g.6567183A>C | GRCh38 |
| NC_000018.9:g.6567182A>C , CM000680.1:g.6567182A>C | GRCh37 |
| NC_000018.8:g.6557182A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_120518.1:n.284-8807A>C | |
| XR_001753341.2:n.1022A>C | |
| XR_935116.1:n.98-1350A>C | |
| XR_935116.3:n.365-1350A>C |