Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303574C>T , CM000675.2:g.48303574C>T | GRCh38 |
| NC_000013.10:g.48877710C>T , CM000675.1:g.48877710C>T | GRCh37 |
| NC_000013.9:g.47775711C>T | NCBI36 |
| NG_009009.1:g.4828C>T , LRG_517:g.4828C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.88G>A | ||
| NR_046414.2:n.129G>A |