Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13836468C>A , CM000686.2:g.13836468C>A | GRCh38 |
| NC_000024.9:g.15948348C>A , CM000686.1:g.15948348C>A | GRCh37 |
| NC_000024.8:g.14457742C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652544.1:n.685-22049C>A | ||
| ENST00000430079.5:n.478-17976C>A | ||
| ENST00000460561.1:n.261-22049C>A | ||
| ENST00000472227.5:n.399-22034C>A |