Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105714972T>A , CM000674.2:g.105714972T>A | GRCh38 |
| NC_000012.11:g.106108750T>A , CM000674.1:g.106108750T>A | GRCh37 |
| NC_000012.10:g.104632880T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110108.1:n.54+10716T>A | ||
| NR_110109.1:n.55-190T>A | ||
| NR_110110.1:n.83+8116T>A | ||
| NR_110111.1:n.83+8116T>A | ||
| NR_110111.2:n.83+8116T>A |