Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7757075C>T , CM000686.2:g.7757075C>T | GRCh38 |
| NC_000024.9:g.7625116C>T , CM000686.1:g.7625116C>T | GRCh37 |
| NC_000024.8:g.7685116C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000442584.2:n.601-14048G>A | |
| ENST00000455527.5:n.188-7604G>A | |
| ENST00000651261.1:n.298+19446G>A | |
| ENST00000652723.1:n.1211-14048G>A |