Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.28102877C>A , CM000683.2:g.28102877C>A | GRCh38 |
| NC_000021.8:g.29475196C>A , CM000683.1:g.29475196C>A | GRCh37 |
| NC_000021.7:g.28397067C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_126010.1:n.344+108C>A | |
| NR_126011.1:n.501C>A |