Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.12050956G>T , CM000673.2:g.12050956G>T | GRCh38 |
| NC_000011.9:g.12072503G>T , CM000673.1:g.12072503G>T | GRCh37 |
| NC_000011.8:g.12029079G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_135109.1:n.57-7578G>T | |
| XR_931035.1:n.57-7578G>T |