Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7702781C>G , CM000686.2:g.7702781C>G | GRCh38 |
| NC_000024.9:g.7570822C>G , CM000686.1:g.7570822C>G | GRCh37 |
| NC_000024.8:g.7630822C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651261.1:n.677-1518G>C |