Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7728274C>T , CM000686.2:g.7728274C>T | GRCh38 |
| NC_000024.9:g.7596315C>T , CM000686.1:g.7596315C>T | GRCh37 |
| NC_000024.8:g.7656315C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000455527.5:n.680+1183G>A | |
| ENST00000651261.1:n.299-15177G>A |