Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7779316A= , CM000686.2:g.7779316A= | GRCh38 |
| NC_000024.9:g.7647357A= , CM000686.1:g.7647357A= | GRCh37 |
| NC_000024.8:g.7707357A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000442584.2:n.219-2288T= | |
| ENST00000651261.1:n.115-2612T= | |
| ENST00000652723.1:n.1027-2612T= |