HGVS | Genome Assembly |
---|---|
NC_000016.10:g.68644759G>A , CM000678.2:g.68644759G>A | GRCh38 |
NC_000016.9:g.68678662G>A , CM000678.1:g.68678662G>A | GRCh37 |
NC_000016.8:g.67236163G>A | NCBI36 |
NG_009096.1:g.5512G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000565453.1:n.223-250G>A | ||
NM_001793.4:c.-621G>A | NP_001784.2:n.-621G>A |