HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420557T>G , CM000666.2:g.99420557T>G | GRCh38 |
NC_000004.11:g.100341714T>G , CM000666.1:g.100341714T>G | GRCh37 |
NC_000004.10:g.100560737T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.801A>C MANE Select | ENSP00000414254.2:p.Glu267Asp | |
ENST00000209665.8:c.837A>C | ENSP00000209665.4:p.Glu279Asp | |
ENST00000437033.6:c.801A>C | ENSP00000414254.2:p.Glu267Asp | |
ENST00000476959.5:c.861A>C | ENSP00000420269.1:p.Glu287Asp | |
ENST00000482593.5:c.630A>C | ENSP00000420613.1:p.Glu210Asp | |
NM_000673.4:c.837A>C | NP_000664.2:p.Glu279Asp | |
NM_001166504.1:c.861A>C | NP_001159976.1:p.Glu287Asp | |
NM_000673.7:c.801A>C MANE Select | NP_000664.3:p.Glu267Asp | |
NM_001166504.2:c.861A>C | NP_001159976.1:p.Glu287Asp |