Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868689C>G , CM000664.2:g.240868689C>G | GRCh38 |
| NC_000002.11:g.241808106C>G , CM000664.1:g.241808106C>G | GRCh37 |
| NC_000002.10:g.241456779C>G | NCBI36 |
| NG_008005.1:g.4945C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-177C>G | ENSP00000302620.3:n.-177C>G | |
| XR_924060.1:n.405+1544G>C |