Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.51440601C>A , CM000664.2:g.51440601C>A | GRCh38 |
| NC_000002.11:g.51667739C>A , CM000664.1:g.51667739C>A | GRCh37 |
| NC_000002.10:g.51521243C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_135237.1:n.694+62428C>A | |
| XR_245003.1:n.694+62428C>A |