HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64747305T>A , CM000673.2:g.64747305T>A | GRCh38 |
NC_000011.9:g.64514777T>A , CM000673.1:g.64514777T>A | GRCh37 |
NC_000011.8:g.64271353T>A | NCBI36 |
NG_007574.1:g.3152A>T , LRG_100:g.3152A>T | |
NG_013018.1:g.18411A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000164139.4:c.2231A>T MANE Select | ENSP00000164139.3:p.Glu744Val | |
ENST00000164139.3:c.2231A>T | ENSP00000164139.3:p.Glu744Val | |
ENST00000377432.7:c.1967A>T | ENSP00000366650.3:p.Glu656Val | |
ENST00000483742.1:n.1584A>T | ||
NM_001164716.1:c.1967A>T | NP_001158188.1:p.Glu656Val | |
NM_005609.2:c.2231A>T | NP_005600.1:p.Glu744Val | |
NM_005609.3:c.2231A>T | NP_005600.1:p.Glu744Val | |
NM_005609.4:c.2231A>T MANE Select | NP_005600.1:p.Glu744Val |