Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.71195175G>A , CM000679.2:g.71195175G>A | GRCh38 |
| NC_000017.10:g.69191316G>A , CM000679.1:g.69191316G>A | GRCh37 |
| NC_000017.9:g.66702911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_104152.1:n.76+6929C>T |