HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420610T>G , CM000666.2:g.99420610T>G | GRCh38 |
NC_000004.11:g.100341767T>G , CM000666.1:g.100341767T>G | GRCh37 |
NC_000004.10:g.100560790T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.748A>C MANE Select | ENSP00000414254.2:p.Ile250Leu | |
ENST00000209665.8:c.784A>C | ENSP00000209665.4:p.Ile262Leu | |
ENST00000437033.6:c.748A>C | ENSP00000414254.2:p.Ile250Leu | |
ENST00000476959.5:c.808A>C | ENSP00000420269.1:p.Ile270Leu | |
ENST00000482593.5:c.577A>C | ENSP00000420613.1:p.Ile193Leu | |
NM_000673.4:c.784A>C | NP_000664.2:p.Ile262Leu | |
NM_001166504.1:c.808A>C | NP_001159976.1:p.Ile270Leu | |
NM_000673.7:c.748A>C MANE Select | NP_000664.3:p.Ile250Leu | |
NM_001166504.2:c.808A>C | NP_001159976.1:p.Ile270Leu |