| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102354740T>G , CM000664.2:g.102354740T>G | GRCh38 |
| NC_000002.11:g.102971200T>G , CM000664.1:g.102971200T>G | GRCh37 |
| NC_000002.10:g.102337632T>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000410040.5:c.-28-7893T>G | ENSP00000386663.1:n.-28-7893T>G |