Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86703240A>T , CM000673.2:g.86703240A>T | GRCh38 |
| NC_000011.9:g.86414282A>T , CM000673.1:g.86414282A>T | GRCh37 |
| NC_000011.8:g.86091930A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001748525.1:n.367+113A>T | |
| XR_001748526.1:n.231+113A>T | |
| XR_001748527.1:n.231+113A>T | |
| XR_001748528.1:n.231+113A>T | |
| XR_002957276.1:n.9581+113A>T |