HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174221376C>A , CM000667.2:g.174221376C>A | GRCh38 |
NC_000005.9:g.173648379C>A , CM000667.1:g.173648379C>A | GRCh37 |
NC_000005.8:g.173580985C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521585.5:c.*18+16072C>A | ENSP00000429863.1:n.*18+16072C>A |