Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303594A>C , CM000675.2:g.48303594A>C | GRCh38 |
| NC_000013.10:g.48877730A>C , CM000675.1:g.48877730A>C | GRCh37 |
| NC_000013.9:g.47775731A>C | NCBI36 |
| NG_009009.1:g.4848A>C , LRG_517:g.4848A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.68T>G | ||
| NR_046414.2:n.109T>G |