HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92637512A>G , CM000672.2:g.92637512A>G | GRCh38 |
NC_000010.10:g.94397269A>G , CM000672.1:g.94397269A>G | GRCh37 |
NC_000010.9:g.94387249A>G | NCBI36 |
NG_032580.1:g.49445A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2127A>G MANE Select | ENSP00000260731.3:p.Glu709= | |
ENST00000676621.1:c.*645A>G | ENSP00000503639.1:n.*645A>G | |
ENST00000676647.1:c.1920A>G | ENSP00000503394.1:p.Glu640= | |
ENST00000676757.1:c.1920A>G | ENSP00000504289.1:p.Glu640= | |
ENST00000677720.1:c.*101A>G | ENSP00000504840.1:n.*101A>G | |
ENST00000260731.4:c.2127A>G | ENSP00000260731.3:p.Glu709= | |
NM_004523.3:c.2127A>G | NP_004514.2:p.Glu709= | |
NM_004523.4:c.2127A>G MANE Select | NP_004514.2:p.Glu709= |