Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19482495G>A , CM000686.2:g.19482495G>A | GRCh38 |
| NC_000024.9:g.21644381G>A , CM000686.1:g.21644381G>A | GRCh37 |
| NC_000024.8:g.20103769G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.112-2201C>T | ||
| ENST00000400605.5:n.106-2201C>T | ||
| ENST00000441139.5:n.123-2201C>T | ||
| ENST00000513194.1:n.2390C>T | ||
| NR_002923.2:n.123-2201C>T | ||
| NR_033732.1:n.123-2201C>T |