HGVS | Genome Assembly |
---|---|
NC_000003.12:g.37562569G>A , CM000665.2:g.37562569G>A | GRCh38 |
NC_000003.11:g.37604060G>A , CM000665.1:g.37604060G>A | GRCh37 |
NC_000003.10:g.37579064G>A | NCBI36 |
NG_016166.1:g.115248G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264741.10:c.1689+19984G>A MANE Select | ENSP00000264741.5:n.1689+19984G>A | |
ENST00000264741.9:c.1689+19984G>A | ENSP00000264741.5:n.1689+19984G>A | |
ENST00000422441.5:c.1689+19984G>A | ENSP00000397258.1:n.1689+19984G>A | |
NM_002207.2:c.1689+19984G>A | NP_002198.2:n.1689+19984G>A | |
NM_002207.3:c.1689+19984G>A MANE Select | NP_002198.2:n.1689+19984G>A |