Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20503376A>G , CM000686.2:g.20503376A>G | GRCh38 |
| NC_000024.9:g.22665262A>G , CM000686.1:g.22665262A>G | GRCh37 |
| NC_000024.8:g.21074650A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001542.1:n.1063+3976T>C |