HGVS | Genome Assembly |
---|---|
NC_000016.10:g.68640885G>C , CM000678.2:g.68640885G>C | GRCh38 |
NC_000016.9:g.68674788G>C , CM000678.1:g.68674788G>C | GRCh37 |
NC_000016.8:g.67232289G>C | NCBI36 |
NG_009096.1:g.1638G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000565453.1:n.223-4124G>C |