Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2869367C= , CM000686.2:g.2869367C= | GRCh38 |
| NC_000024.9:g.2737408C= , CM000686.1:g.2737408C= | GRCh37 |
| NC_000024.8:g.2797408C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515575.1:n.42+14596C= |