HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154097864G>A , CM000685.2:g.154097864G>A | GRCh38 |
NC_000023.10:g.153363321G>A , CM000685.1:g.153363321G>A | GRCh37 |
NC_000023.9:g.153016515G>A | NCBI36 |
NG_007107.2:g.44258C>T | |
NG_007107.3:g.44240C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000631210.1:n.305+6917C>T |