Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105714941C>A , CM000674.2:g.105714941C>A | GRCh38 |
| NC_000012.11:g.106108719C>A , CM000674.1:g.106108719C>A | GRCh37 |
| NC_000012.10:g.104632849C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110108.1:n.54+10685C>A | |
| NR_110109.1:n.55-221C>A | |
| NR_110110.1:n.83+8085C>A | |
| NR_110111.1:n.83+8085C>A | |
| NR_110111.2:n.83+8085C>A |