HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174221347C>G , CM000667.2:g.174221347C>G | GRCh38 |
NC_000005.9:g.173648350C>G , CM000667.1:g.173648350C>G | GRCh37 |
NC_000005.8:g.173580956C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521585.5:c.*18+16043C>G | ENSP00000429863.1:n.*18+16043C>G |