HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184148698C>A , CM000665.2:g.184148698C>A | GRCh38 |
NC_000003.11:g.183866486C>A , CM000665.1:g.183866486C>A | GRCh37 |
NC_000003.10:g.185349180C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000444495.1:c.2106+3991C>A | ENSP00000409142.1:n.2106+3991C>A |