Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18935792C>A , CM000686.2:g.18935792C>A | GRCh38 |
| NC_000024.9:g.21097678C>A , CM000686.1:g.21097678C>A | GRCh37 |
| NC_000024.8:g.19557066C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125733.1:n.579-2317G>T | ||
| NR_125734.1:n.579-58587G>T | ||
| NR_125735.1:n.504-58587G>T | ||
| NR_125736.1:n.139-23310G>T | ||
| NR_125737.1:n.139-2951G>T | ||
| NR_001543.4:n.504-2951G>T | ||
| NR_125737.2:n.139-2951G>T | ||
| NR_158640.1:n.153-58587G>T | ||
| NR_158641.1:n.369-2951G>T |