Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303678G>A , CM000675.2:g.48303678G>A | GRCh38 |
| NC_000013.10:g.48877814G>A , CM000675.1:g.48877814G>A | GRCh37 |
| NC_000013.9:g.47775815G>A | NCBI36 |
| NG_009009.1:g.4932G>A , LRG_517:g.4932G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046414.2:n.25C>T |