Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32342613A>G , CM000673.2:g.32342613A>G | GRCh38 |
| NC_000011.9:g.32364159A>G , CM000673.1:g.32364159A>G | GRCh37 |
| NC_000011.8:g.32320735A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525689.2:n.122+675T>C | ||
| ENST00000525689.1:n.122+675T>C |