Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22325559C= , CM000686.2:g.22325559C= | GRCh38 |
| NC_000024.9:g.24471706C= , CM000686.1:g.24471706C= | GRCh37 |
| NC_000024.8:g.22881094C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000414629.6:c.-5+16589C= | ENSP00000405745.2:n.-5+16589C= |
| ENST00000445779.6:c.-5+16589C= | ENSP00000389621.2:n.-5+16589C= |