Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56672647C>A , CM000673.2:g.56672647C>A | GRCh38 |
| NC_000011.9:g.56440123C>A , CM000673.1:g.56440123C>A | GRCh37 |
| NC_000011.8:g.56196699C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641232.1:n.180-1227G>T |