| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94761900C= , CM000672.2:g.94761900C= | GRCh38 |
| NC_000010.10:g.96521657C= , CM000672.1:g.96521657C= | GRCh37 |
| NC_000010.9:g.96511647C= | NCBI36 |
| NG_008384.2:g.4195C= | |
| NG_008384.3:g.4220C= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000464755.1:c.932-13158C= | ENSP00000483243.1:n.932-13158C= |