HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174221549T>G , CM000667.2:g.174221549T>G | GRCh38 |
NC_000005.9:g.173648552T>G , CM000667.1:g.173648552T>G | GRCh37 |
NC_000005.8:g.173581158T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521585.5:c.*18+16245T>G | ENSP00000429863.1:n.*18+16245T>G |