Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7760443C>T , CM000686.2:g.7760443C>T | GRCh38 |
| NC_000024.9:g.7628484C>T , CM000686.1:g.7628484C>T | GRCh37 |
| NC_000024.8:g.7688484C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000442584.2:n.600+16078G>A | |
| ENST00000455527.5:n.188-10972G>A | |
| ENST00000651261.1:n.298+16078G>A | |
| ENST00000652723.1:n.1210+16078G>A |