Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7333174T>G , CM000686.2:g.7333174T>G | GRCh38 |
| NC_000024.9:g.7201215T>G , CM000686.1:g.7201215T>G | GRCh37 |
| NC_000024.8:g.7261215T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000472666.1:n.79+66T>G | ||
| ENST00000528056.5:n.940+7005T>G | ||
| ENST00000533551.5:n.599+7005T>G | ||
| NR_028062.1:n.940+7005T>G |