HGVS | Genome Assembly |
---|---|
NC_000016.10:g.55478141G>C , CM000678.2:g.55478141G>C | GRCh38 |
NC_000016.9:g.55512053G>C , CM000678.1:g.55512053G>C | GRCh37 |
NC_000016.8:g.54069554G>C | NCBI36 |
NG_008989.1:g.3973G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000570308.5:c.-75-4768G>C | ENSP00000461421.1:n.-75-4768G>C |