Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392353A>G , CM000673.2:g.61392353A>G | GRCh38 |
| NC_000011.9:g.61159825A>G , CM000673.1:g.61159825A>G | GRCh37 |
| NC_000011.8:g.60916401A>G | NCBI36 |
| NG_032976.1:g.4994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515837.6:c.-279A>G | ENSP00000440638.1:n.-279A>G | |
| XM_005274039.3:c.-610A>G | XP_005274096.1:n.-610A>G | |
| XM_005274039.4:c.-610A>G | XP_005274096.1:n.-610A>G |