HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174221482C>T , CM000667.2:g.174221482C>T | GRCh38 |
NC_000005.9:g.173648485C>T , CM000667.1:g.173648485C>T | GRCh37 |
NC_000005.8:g.173581091C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521585.5:c.*18+16178C>T | ENSP00000429863.1:n.*18+16178C>T |