Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14893697C>G , CM000673.2:g.14893697C>G | GRCh38 |
| NC_000011.9:g.14915243C>G , CM000673.1:g.14915243C>G | GRCh37 |
| NC_000011.8:g.14871819C>G | NCBI36 |
| NG_007936.1:g.3509G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519898.1:c.-1453G>C | XP_011518200.1:n.-1453G>C | |
| XM_011519898.3:c.-1453G>C | XP_011518200.1:n.-1453G>C |