HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133539575A>C , CM000672.2:g.133539575A>C | GRCh38 |
NC_000010.10:g.135353079A>C , CM000672.1:g.135353079A>C | GRCh37 |
NC_000010.9:g.135203069A>C | NCBI36 |
NG_008383.1:g.17213A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368520.1:n.1358+1683A>C |