Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.202922G>C , CM000673.2:g.202922G>C | GRCh38 |
| NC_000011.9:g.202922G>C , CM000673.1:g.202922G>C | GRCh37 |
| NC_000011.8:g.192922G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410108.5:c.168+2689C>G | ENSP00000386558.1:n.168+2689C>G |