Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13090633C>A , CM000686.2:g.13090633C>A | GRCh38 |
| NC_000024.9:g.15202547C>A , CM000686.1:g.15202547C>A | GRCh37 |
| NC_000024.8:g.13711941C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446621.1:n.556-3942C>A |