Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105715199A>C , CM000674.2:g.105715199A>C | GRCh38 |
| NC_000012.11:g.106108977A>C , CM000674.1:g.106108977A>C | GRCh37 |
| NC_000012.10:g.104633107A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110108.1:n.54+10943A>C | ||
| NR_110109.1:n.92A>C | ||
| NR_110110.1:n.83+8343A>C | ||
| NR_110111.1:n.83+8343A>C | ||
| NR_110111.2:n.83+8343A>C |