Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216109091C>G , CM000664.2:g.216109091C>G | GRCh38 |
| NC_000002.11:g.216973814C>G , CM000664.1:g.216973814C>G | GRCh37 |
| NC_000002.10:g.216682059C>G | NCBI36 |
| NG_029780.1:g.4795C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392133.7:c.-346C>G | ENSP00000375978.3:n.-346C>G |