Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.17192881G>A , CM000686.2:g.17192881G>A | GRCh38 |
| NC_000024.9:g.19304761G>A , CM000686.1:g.19304761G>A | GRCh37 |
| NC_000024.8:g.17814155G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451854.1:n.56G>A |