HGVS | Genome Assembly |
---|---|
NC_000003.12:g.37562428C>G , CM000665.2:g.37562428C>G | GRCh38 |
NC_000003.11:g.37603919C>G , CM000665.1:g.37603919C>G | GRCh37 |
NC_000003.10:g.37578923C>G | NCBI36 |
NG_016166.1:g.115107C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264741.10:c.1689+19843C>G MANE Select | ENSP00000264741.5:n.1689+19843C>G | |
ENST00000264741.9:c.1689+19843C>G | ENSP00000264741.5:n.1689+19843C>G | |
ENST00000422441.5:c.1689+19843C>G | ENSP00000397258.1:n.1689+19843C>G | |
NM_002207.2:c.1689+19843C>G | NP_002198.2:n.1689+19843C>G | |
NM_002207.3:c.1689+19843C>G MANE Select | NP_002198.2:n.1689+19843C>G |