Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18933736T>C , CM000686.2:g.18933736T>C | GRCh38 |
| NC_000024.9:g.21095622T>C , CM000686.1:g.21095622T>C | GRCh37 |
| NC_000024.8:g.19555010T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125733.1:n.579-261A>G | ||
| NR_125734.1:n.579-56531A>G | ||
| NR_125735.1:n.504-56531A>G | ||
| NR_125736.1:n.139-21254A>G | ||
| NR_125737.1:n.139-895A>G | ||
| NR_001543.4:n.504-895A>G | ||
| NR_125737.2:n.139-895A>G | ||
| NR_158640.1:n.153-56531A>G | ||
| NR_158641.1:n.369-895A>G |