Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133539189T>G , CM000672.2:g.133539189T>G | GRCh38 |
| NC_000010.10:g.135352693T>G , CM000672.1:g.135352693T>G | GRCh37 |
| NC_000010.9:g.135202683T>G | NCBI36 |
| NG_008383.1:g.16827T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368520.1:n.1358+1297T>G |