Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12586979G>A , CM000686.2:g.12586979G>A | GRCh38 |
| NC_000024.9:g.14698913G>A , CM000686.1:g.14698913G>A | GRCh37 |
| NC_000024.8:g.13208933G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457658.6:n.653+40729G>A |