Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105715030T>C , CM000674.2:g.105715030T>C | GRCh38 |
| NC_000012.11:g.106108808T>C , CM000674.1:g.106108808T>C | GRCh37 |
| NC_000012.10:g.104632938T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110108.1:n.54+10774T>C | ||
| NR_110109.1:n.55-132T>C | ||
| NR_110110.1:n.83+8174T>C | ||
| NR_110111.1:n.83+8174T>C | ||
| NR_110111.2:n.83+8174T>C |