Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124749450C>A , CM000672.2:g.124749450C>A | GRCh38 |
| NC_000010.10:g.126438019C>A , CM000672.1:g.126438019C>A | GRCh37 |
| NC_000010.9:g.126428009C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000494792.1:c.628+10936G>T | |
| ENST00000495711.2:c.187-964G>T |