| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4381178C= , CM000674.2:g.4381178C= | GRCh38 |
| NC_000012.11:g.4490344C= , CM000674.1:g.4490344C= | GRCh37 |
| NC_000012.10:g.4360605C= | NCBI36 |
| NG_007087.1:g.3551G= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648100.1:c.*1967+14896C= | ENSP00000497536.1:n.*1967+14896C= |
| ENST00000674624.1:c.*1204+14896C= | ENSP00000501898.1:n.*1204+14896C= |