Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116840295G>A , CM000673.2:g.116840295G>A | GRCh38 |
| NC_000011.9:g.116711011G>A , CM000673.1:g.116711011G>A | GRCh37 |
| NC_000011.8:g.116216221G>A | NCBI36 |
| NG_012021.1:g.2328C>T , LRG_767:g.2328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126362.1:n.123+4056G>A |