HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16028832A= , CM000679.2:g.16028832A= | GRCh38 |
NC_000017.10:g.15932146A= , CM000679.1:g.15932146A= | GRCh37 |
NC_000017.9:g.15872871A= | NCBI36 |
NG_029806.1:g.34453A= | |
NG_047111.1:g.192915T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261647.10:c.*1310A= MANE Select | ENSP00000261647.5:n.*1310A= | |
ENST00000261647.9:c.*1310A= | ENSP00000261647.5:n.*1310A= | |
ENST00000470649.1:c.247+2130A= | ENSP00000465627.1:n.247+2130A= | |
NM_001271420.1:c.*1310A= | NP_001258349.1:n.*1310A= | |
NM_017775.3:c.*1310A= | NP_060245.3:n.*1310A= | |
XM_017024801.2:c.994+2130A= | XP_016880290.2:n.994+2130A= | |
XM_017024802.2:c.994+2130A= | XP_016880291.2:n.994+2130A= | |
NM_017775.4:c.*1310A= MANE Select | NP_060245.3:n.*1310A= | |
NM_001271420.2:c.*1310A= | NP_001258349.1:n.*1310A= |