Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6728826C>G , CM000673.2:g.6728826C>G | GRCh38 |
| NC_000011.9:g.6750057C>G , CM000673.1:g.6750057C>G | GRCh37 |
| NC_000011.8:g.6706633C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000526769.3:n.92-6944G>C |