| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144383974A= , CM000664.2:g.144383974A= | GRCh38 |
| NC_000002.11:g.145141541A= , CM000664.1:g.145141541A= | GRCh37 |
| NC_000002.10:g.144858011A= | NCBI36 |
| NG_016431.1:g.141418T= |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000639389.1:c.151+12438T= | ENSP00000492572.1:n.151+12438T= |