Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27852622A>G , CM000675.2:g.27852622A>G | GRCh38 |
| NC_000013.10:g.28426759A>G , CM000675.1:g.28426759A>G | GRCh37 |
| NC_000013.9:g.27324759A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_047484.1:n.242-4086T>C | |
| NR_047484.2:n.143-4086T>C |