Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204717C>G , CM000676.2:g.96204717C>G | GRCh38 |
| NC_000014.8:g.96671054C>G , CM000676.1:g.96671054C>G | GRCh37 |
| NC_000014.7:g.95740807C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542454.2:c.-3050C>G | ENSP00000439459.2:n.-3050C>G |