HGVS | Genome Assembly |
---|---|
NC_000007.14:g.92504779T>A , CM000669.2:g.92504779T>A | GRCh38 |
NC_000007.13:g.92134093T>A , CM000669.1:g.92134093T>A | GRCh37 |
NC_000007.12:g.91972029T>A | NCBI36 |
NG_008341.1:g.28753A>T | |
NG_008341.2:g.28753A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248633.9:c.2024A>T MANE Select | ENSP00000248633.4:p.Glu675Val | |
ENST00000248633.8:c.2024A>T | ENSP00000248633.4:p.Glu675Val | |
ENST00000428214.5:c.1900+1469A>T | ENSP00000394413.1:n.1900+1469A>T | |
ENST00000438045.5:c.1058A>T | ENSP00000410438.1:p.Glu353Val | |
ENST00000484913.5:n.2063A>T | ||
ENST00000496420.5:n.1700A>T | ||
NM_000466.2:c.2024A>T | NP_000457.1:p.Glu675Val | |
NM_001282677.1:c.1900+1469A>T | NP_001269606.1:n.1900+1469A>T | |
NM_001282678.1:c.1400A>T | NP_001269607.1:p.Glu467Val | |
XM_005250433.3:c.275A>T | XP_005250490.1:p.Glu92Val | |
XR_242246.3:n.2120A>T | ||
XM_017012319.2:c.275A>T | XP_016867808.1:p.Glu92Val | |
XR_001744808.2:n.1051A>T | ||
XR_242246.5:n.2071A>T | ||
NM_000466.3:c.2024A>T MANE Select | NP_000457.1:p.Glu675Val | |
NM_001282677.2:c.1900+1469A>T | NP_001269606.1:n.1900+1469A>T | |
NM_001282678.2:c.1400A>T | NP_001269607.1:p.Glu467Val |