HGVS | Genome Assembly |
---|---|
NC_000016.10:g.3767778C>T , CM000678.2:g.3767778C>T | GRCh38 |
NC_000016.9:g.3817779C>T , CM000678.1:g.3817779C>T | GRCh37 |
NC_000016.8:g.3757780C>T | NCBI36 |
NG_009873.1:g.117343G>A | |
NG_009873.2:g.117936G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262367.10:c.3192G>A MANE Select | ENSP00000262367.5:p.Glu1064= | |
ENST00000262367.9:c.3192G>A | ENSP00000262367.5:p.Glu1064= | |
ENST00000382070.7:c.3078G>A | ENSP00000371502.3:p.Glu1026= | |
ENST00000570939.2:c.1797G>A | ENSP00000461002.2:p.Glu599= | |
ENST00000573672.1:n.446G>A | ||
NM_001079846.1:c.3078G>A | NP_001073315.1:p.Glu1026= | |
NM_004380.2:c.3192G>A | NP_004371.2:p.Glu1064= | |
XM_005255124.3:c.3147G>A | XP_005255181.1:p.Glu1049= | |
XM_005255125.3:c.2775G>A | XP_005255182.1:p.Glu925= | |
XM_006720848.2:c.3192G>A | XP_006720911.1:p.Glu1064= | |
XM_011522380.1:c.3138G>A | XP_011520682.1:p.Glu1046= | |
XM_011522381.1:c.2439G>A | XP_011520683.1:p.Glu813= | |
XM_011522382.1:c.3192G>A | XP_011520684.1:p.Glu1064= | |
XM_005255124.4:c.3147G>A | XP_005255181.1:p.Glu1049= | |
XM_005255125.4:c.2775G>A | XP_005255182.1:p.Glu925= | |
XM_006720848.3:c.3192G>A | XP_006720911.1:p.Glu1064= | |
XM_011522381.2:c.2439G>A | XP_011520683.1:p.Glu813= | |
XM_011522382.3:c.3192G>A | XP_011520684.1:p.Glu1064= | |
XM_017022944.1:c.3186G>A | XP_016878433.1:p.Glu1062= | |
NM_004380.3:c.3192G>A MANE Select | NP_004371.2:p.Glu1064= |