Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15359740G>A , CM000686.2:g.15359740G>A | GRCh38 |
| NC_000024.9:g.17471620G>A , CM000686.1:g.17471620G>A | GRCh37 |
| NC_000024.8:g.15981014G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000421058.1:n.291-10874C>T | |
| XR_001756089.1:n.86+5310C>T |