Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19482484T= , CM000686.2:g.19482484T= | GRCh38 |
| NC_000024.9:g.21644370T= , CM000686.1:g.21644370T= | GRCh37 |
| NC_000024.8:g.20103758T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.112-2190A= | ||
| ENST00000400605.5:n.106-2190A= | ||
| ENST00000441139.5:n.123-2190A= | ||
| ENST00000513194.1:n.2401A= | ||
| NR_002923.2:n.123-2190A= | ||
| NR_033732.1:n.123-2190A= |