Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77589003C>T , CM000673.2:g.77589003C>T | GRCh38 |
| NC_000011.9:g.77300048C>T , CM000673.1:g.77300048C>T | GRCh37 |
| NC_000011.8:g.76977696C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526761.5:c.224-3544G>A |