HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128769526T>A , CM000669.2:g.128769526T>A | GRCh38 |
NC_000007.13:g.128409580T>A , CM000669.1:g.128409580T>A | GRCh37 |
NC_000007.12:g.128196816T>A | NCBI36 |
NG_033110.1:g.35235T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000449187.7:c.*359T>A | ENSP00000408838.2:n.*359T>A | |
ENST00000542996.7:c.*359T>A | ENSP00000438248.1:n.*359T>A | |
ENST00000249364.9:c.*359T>A MANE Select | ENSP00000249364.4:n.*359T>A | |
ENST00000249364.8:c.*359T>A | ENSP00000249364.4:n.*359T>A | |
ENST00000449187.6:c.*359T>A | ENSP00000408838.2:n.*359T>A | |
ENST00000479257.5:c.*359T>A | ENSP00000420381.1:n.*359T>A | |
ENST00000493278.1:c.471+330T>A | ||
ENST00000535011.6:c.*432T>A | ENSP00000442110.1:n.*432T>A | |
ENST00000542996.6:c.*359T>A | ENSP00000438248.1:n.*359T>A | |
NM_001130674.2:c.*359T>A | NP_001124146.1:n.*359T>A | |
NM_001199671.1:c.*359T>A | NP_001186600.1:n.*359T>A | |
NM_001199672.1:c.*359T>A | NP_001186601.1:n.*359T>A | |
NM_001199673.1:c.*432T>A | NP_001186602.1:n.*432T>A | |
NM_001219.4:c.*359T>A | NP_001210.1:n.*359T>A | |
NR_074086.1:n.1033T>A | ||
XM_011516588.1:c.*359T>A | XP_011514890.1:n.*359T>A | |
XM_017012659.1:c.*359T>A | XP_016868148.1:n.*359T>A | |
NM_001219.5:c.*359T>A MANE Select | NP_001210.1:n.*359T>A | |
NM_001130674.3:c.*359T>A | NP_001124146.1:n.*359T>A | |
NM_001199671.2:c.*359T>A | NP_001186600.1:n.*359T>A | |
NM_001199672.2:c.*359T>A | NP_001186601.1:n.*359T>A | |
NM_001199673.2:c.*432T>A | NP_001186602.1:n.*432T>A | |
NR_074086.2:n.966T>A |