Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7309148A>G , CM000686.2:g.7309148A>G | GRCh38 |
| NC_000024.9:g.7177189A>G , CM000686.1:g.7177189A>G | GRCh37 |
| NC_000024.8:g.7237189A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_028062.1:n.676+5043A>G | |
| ENST00000528056.5:n.676+5043A>G | |
| ENST00000533551.5:n.335+5043A>G |