Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15551598G>A , CM000686.2:g.15551598G>A | GRCh38 |
| NC_000024.9:g.17663478G>A , CM000686.1:g.17663478G>A | GRCh37 |
| NC_000024.8:g.16172872G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412493.1:n.476G>A |