Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303535G>A , CM000675.2:g.48303535G>A | GRCh38 |
| NC_000013.10:g.48877671G>A , CM000675.1:g.48877671G>A | GRCh37 |
| NC_000013.9:g.47775672G>A | NCBI36 |
| NG_009009.1:g.4789G>A , LRG_517:g.4789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.127C>T | ||
| NR_046414.2:n.168C>T |