| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233251286G= , CM000664.2:g.233251286G= | GRCh38 |
| NC_000002.11:g.234159932G= , CM000664.1:g.234159932G= | GRCh37 |
| NC_000002.10:g.233824671G= | NCBI36 |
| NG_023038.1:g.4716G= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000431917.5:c.-137-4816G= | ENSP00000397512.1:n.-137-4816G= |