HGVS | Genome Assembly |
---|---|
NC_000014.9:g.88472308A>T , CM000676.2:g.88472308A>T | GRCh38 |
NC_000014.8:g.88938652A>T , CM000676.1:g.88938652A>T | GRCh37 |
NC_000014.7:g.88008405A>T | NCBI36 |
NG_046949.1:g.87472T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000556564.6:c.2807T>A MANE Select | ENSP00000452414.1:p.Val936Glu | |
ENST00000328736.7:c.2807T>A | ENSP00000330276.3:p.Val936Glu | |
ENST00000536337.5:c.*2744T>A | ENSP00000443951.1:n.*2744T>A | |
ENST00000554270.5:n.2920T>A | ||
ENST00000556564.5:c.2807T>A | ENSP00000452414.1:p.Val936Glu | |
ENST00000557249.1:n.426T>A | ||
NM_007039.3:c.2807T>A | NP_008970.2:p.Val936Glu | |
XM_005267287.1:c.2807T>A | XP_005267344.1:p.Val936Glu | |
XM_006720011.2:c.2438T>A | XP_006720074.1:p.Val813Glu | |
XM_011536367.1:c.2807T>A | XP_011534669.1:p.Val936Glu | |
XM_011536368.1:c.2438T>A | XP_011534670.1:p.Val813Glu | |
XM_011536369.1:c.2195T>A | XP_011534671.1:p.Val732Glu | |
XM_005267287.3:c.2807T>A | XP_005267344.1:p.Val936Glu | |
XM_006720011.3:c.2438T>A | XP_006720074.1:p.Val813Glu | |
XM_011536367.3:c.2807T>A | XP_011534669.1:p.Val936Glu | |
XM_011536368.2:c.2438T>A | XP_011534670.1:p.Val813Glu | |
XM_011536369.2:c.2195T>A | XP_011534671.1:p.Val732Glu | |
XM_017020938.2:c.2438T>A | XP_016876427.1:p.Val813Glu | |
XM_017020939.1:c.2195T>A | XP_016876428.1:p.Val732Glu | |
NM_007039.4:c.2807T>A MANE Select | NP_008970.2:p.Val936Glu |