Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100215693G>A , CM000664.2:g.100215693G>A | GRCh38 |
| NC_000002.11:g.100832155G>A , CM000664.1:g.100832155G>A | GRCh37 |
| NC_000002.10:g.100198587G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_103730.1:n.567+6873G>A |