Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.78063343G>C , CM000676.2:g.78063343G>C | GRCh38 |
| NC_000014.8:g.78529686G>C , CM000676.1:g.78529686G>C | GRCh37 |
| NC_000014.7:g.77599439G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537364.1:c.-704+1022G>C | XP_011535666.1:n.-704+1022G>C | |
| XM_011537364.2:c.-704+1022G>C | XP_011535666.1:n.-704+1022G>C | |
| XM_017021790.1:c.-704+1022G>C | XP_016877279.1:n.-704+1022G>C | |
| XM_017021791.1:c.-704+1022G>C | XP_016877280.1:n.-704+1022G>C |