HGVS | Genome Assembly |
---|---|
NC_000003.12:g.111333800G>A , CM000665.2:g.111333800G>A | GRCh38 |
NC_000003.11:g.111052647G>A , CM000665.1:g.111052647G>A | GRCh37 |
NC_000003.10:g.112535337G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000460744.1:c.-325-30713G>A | ENSP00000475194.1:n.-325-30713G>A | |
XR_924332.1:n.163+27282G>A |