Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7760859A>G , CM000686.2:g.7760859A>G | GRCh38 |
| NC_000024.9:g.7628900A>G , CM000686.1:g.7628900A>G | GRCh37 |
| NC_000024.8:g.7688900A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000442584.2:n.600+15662T>C | |
| ENST00000455527.5:n.188-11388T>C | |
| ENST00000651261.1:n.298+15662T>C | |
| ENST00000652723.1:n.1210+15662T>C |