HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16028861T= , CM000679.2:g.16028861T= | GRCh38 |
NC_000017.10:g.15932175T= , CM000679.1:g.15932175T= | GRCh37 |
NC_000017.9:g.15872900T= | NCBI36 |
NG_029806.1:g.34482T= | |
NG_047111.1:g.192886A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261647.10:c.*1339T= MANE Select | ENSP00000261647.5:n.*1339T= | |
ENST00000261647.9:c.*1339T= | ENSP00000261647.5:n.*1339T= | |
ENST00000470649.1:c.247+2159T= | ENSP00000465627.1:n.247+2159T= | |
NM_001271420.1:c.*1339T= | NP_001258349.1:n.*1339T= | |
NM_017775.3:c.*1339T= | NP_060245.3:n.*1339T= | |
XM_017024801.2:c.994+2159T= | XP_016880290.2:n.994+2159T= | |
XM_017024802.2:c.994+2159T= | XP_016880291.2:n.994+2159T= | |
NM_017775.4:c.*1339T= MANE Select | NP_060245.3:n.*1339T= | |
NM_001271420.2:c.*1339T= | NP_001258349.1:n.*1339T= |