Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19024377C>T , CM000686.2:g.19024377C>T | GRCh38 |
| NC_000024.9:g.21186263C>T , CM000686.1:g.21186263C>T | GRCh37 |
| NC_000024.8:g.19645651C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001543.4:n.503+52668G>A | |
| NR_125733.1:n.578+44347G>A | |
| NR_125734.1:n.578+44347G>A | |
| NR_125735.1:n.503+52668G>A | |
| NR_125736.1:n.138+44347G>A | |
| NR_125737.1:n.138+44347G>A | |
| NR_125737.2:n.138+44347G>A | |
| NR_158640.1:n.152+49122G>A | |
| NR_158641.1:n.368+20165G>A |