| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94761288C>G , CM000672.2:g.94761288C>G | GRCh38 |
| NC_000010.10:g.96521045C>G , CM000672.1:g.96521045C>G | GRCh37 |
| NC_000010.9:g.96511035C>G | NCBI36 |
| NG_008384.2:g.3583C>G | |
| NG_008384.3:g.3608C>G |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000464755.1:c.932-13770C>G | ENSP00000483243.1:n.932-13770C>G |