Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7320084A>G , CM000686.2:g.7320084A>G | GRCh38 |
| NC_000024.9:g.7188125A>G , CM000686.1:g.7188125A>G | GRCh37 |
| NC_000024.8:g.7248125A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528056.5:n.677-5822A>G | ||
| ENST00000533551.5:n.336-5822A>G | ||
| NR_028062.1:n.677-5822A>G |