HGVS | Genome Assembly |
---|---|
NC_000024.10:g.8707779C= , CM000686.2:g.8707779C= | GRCh38 |
NC_000024.9:g.8575820C= , CM000686.1:g.8575820C= | GRCh37 |
NC_000024.8:g.8635820C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000623558.1:c.139+8747C= | ENSP00000485446.1:n.139+8747C= | |
ENST00000624593.1:c.-57+40937G= | ENSP00000485106.1:n.-57+40937G= |