Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7702697G>A , CM000686.2:g.7702697G>A | GRCh38 |
| NC_000024.9:g.7570738G>A , CM000686.1:g.7570738G>A | GRCh37 |
| NC_000024.8:g.7630738G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.677-1434C>T |