HGVS | Genome Assembly |
---|---|
NC_000003.12:g.170776620G>A , CM000665.2:g.170776620G>A | GRCh38 |
NC_000003.11:g.170494409G>A , CM000665.1:g.170494409G>A | GRCh37 |
NC_000003.10:g.171977103G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000486975.1:c.*44+68426G>A | ENSP00000417434.1:n.*44+68426G>A | |
XR_924701.1:n.310+4553G>A | ||
XR_924701.2:n.1210+4553G>A |