| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8734374T= , CM000686.2:g.8734374T= | GRCh38 |
| NC_000024.9:g.8602415T= , CM000686.1:g.8602415T= | GRCh37 |
| NC_000024.8:g.8662415T= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000623558.1:c.197-5456T= | ENSP00000485446.1:n.197-5456T= |
| ENST00000624237.1:c.64-7681T= | ENSP00000485137.1:n.64-7681T= |
| ENST00000624593.1:c.-57+14342A= | ENSP00000485106.1:n.-57+14342A= |