HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174221463A>C , CM000667.2:g.174221463A>C | GRCh38 |
NC_000005.9:g.173648466A>C , CM000667.1:g.173648466A>C | GRCh37 |
NC_000005.8:g.173581072A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000521585.5:c.*18+16159A>C | ENSP00000429863.1:n.*18+16159A>C |