Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15572695T>A , CM000686.2:g.15572695T>A | GRCh38 |
| NC_000024.9:g.17684575T>A , CM000686.1:g.17684575T>A | GRCh37 |
| NC_000024.8:g.16193969T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412493.1:n.1050+5767T>A |