Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56672593C>T , CM000673.2:g.56672593C>T | GRCh38 |
| NC_000011.9:g.56440069C>T , CM000673.1:g.56440069C>T | GRCh37 |
| NC_000011.8:g.56196645C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641232.1:n.180-1173G>A |