Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79935452A>C , CM000672.2:g.79935452A>C | GRCh38 |
| NC_000010.10:g.81695208A>C , CM000672.1:g.81695208A>C | GRCh37 |
| NC_000010.9:g.81685188A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000421889.1:n.109-1079A>C |