HGVS | Genome Assembly |
---|---|
NC_000003.12:g.37562579T>A , CM000665.2:g.37562579T>A | GRCh38 |
NC_000003.11:g.37604070T>A , CM000665.1:g.37604070T>A | GRCh37 |
NC_000003.10:g.37579074T>A | NCBI36 |
NG_016166.1:g.115258T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264741.10:c.1689+19994T>A MANE Select | ENSP00000264741.5:n.1689+19994T>A | |
ENST00000264741.9:c.1689+19994T>A | ENSP00000264741.5:n.1689+19994T>A | |
ENST00000422441.5:c.1689+19994T>A | ENSP00000397258.1:n.1689+19994T>A | |
NM_002207.2:c.1689+19994T>A | NP_002198.2:n.1689+19994T>A | |
NM_002207.3:c.1689+19994T>A MANE Select | NP_002198.2:n.1689+19994T>A |