Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586414G>C , CM000674.2:g.93586414G>C | GRCh38 |
| NC_000012.11:g.93980190G>C , CM000674.1:g.93980190G>C | GRCh37 |
| NC_000012.10:g.92504321G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538935.1:c.591+11241G>C | XP_011537237.1:n.591+11241G>C |