Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27638100A>G , CM000673.2:g.27638100A>G | GRCh38 |
| NC_000011.9:g.27659647A>G , CM000673.1:g.27659647A>G | GRCh37 |
| NC_000011.8:g.27616223A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002832.2:n.214-1745A>G | ||
| NR_033312.1:n.145-1745A>G | ||
| NR_033313.1:n.145-1745A>G | ||
| NR_033314.1:n.214-1745A>G | ||
| NR_033315.1:n.145-1745A>G |