HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35281996A>G , CM000681.2:g.35281996A>G | GRCh38 |
NC_000019.9:g.35772899A>G , CM000681.1:g.35772899A>G | GRCh37 |
NC_000019.8:g.40464739A>G | NCBI36 |
NG_011563.1:g.4490A>G | |
NG_011563.2:g.4490A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000598398.5:c.-84-498A>G | ENSP00000471894.1:n.-84-498A>G |