HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12919504G>A , CM000686.2:g.12919504G>A | GRCh38 |
NC_000024.9:g.15031416G>A , CM000686.1:g.15031416G>A | GRCh37 |
NC_000024.8:g.13540810G>A | NCBI36 |
NG_012831.1:g.20398G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336079.8:c.*1382G>A MANE Select | ENSP00000336725.3:n.*1382G>A | |
ENST00000336079.7:c.*1382G>A | ENSP00000336725.3:n.*1382G>A | |
NM_004660.4:c.*1382G>A | NP_004651.2:n.*1382G>A | |
XM_006724878.1:c.*1382G>A | XP_006724941.1:n.*1382G>A | |
NM_001122665.3:c.*1382G>A | NP_001116137.1:n.*1382G>A | |
NM_001302552.2:c.*1382G>A | NP_001289481.1:n.*1382G>A | |
NM_001324195.1:c.*1382G>A | NP_001311124.1:n.*1382G>A | |
NR_136716.1:n.3834G>A | ||
NR_136717.1:n.3596G>A | ||
NR_136718.1:n.3914G>A | ||
NR_136719.1:n.3704G>A | ||
NR_136720.1:n.3765G>A | ||
NR_136721.1:n.3427G>A | ||
NR_136722.1:n.3511G>A | ||
NR_136723.1:n.3829G>A | ||
NR_136724.1:n.3749G>A | ||
XR_001756014.2:n.3529G>A | ||
NM_004660.5:c.*1382G>A MANE Select | NP_004651.2:n.*1382G>A | |
NM_001302552.3:c.*1382G>A | NP_001289481.1:n.*1382G>A | |
NM_001324195.2:c.*1382G>A | NP_001311124.1:n.*1382G>A | |
NR_136716.2:n.3752G>A | ||
NR_136717.2:n.3514G>A | ||
NR_136718.2:n.3832G>A | ||
NR_136719.2:n.3622G>A | ||
NR_136720.2:n.3683G>A | ||
NR_136721.2:n.3417G>A |