HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420769C>A , CM000666.2:g.99420769C>A | GRCh38 |
NC_000004.11:g.100341926C>A , CM000666.1:g.100341926C>A | GRCh37 |
NC_000004.10:g.100560949C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.589G>T MANE Select | ENSP00000414254.2:p.Val197Phe | |
ENST00000209665.8:c.625G>T | ENSP00000209665.4:p.Val209Phe | |
ENST00000437033.6:c.589G>T | ENSP00000414254.2:p.Val197Phe | |
ENST00000476959.5:c.649G>T | ENSP00000420269.1:p.Val217Phe | |
ENST00000482593.5:c.418G>T | ENSP00000420613.1:p.Val140Phe | |
NM_000673.4:c.625G>T | NP_000664.2:p.Val209Phe | |
NM_001166504.1:c.649G>T | NP_001159976.1:p.Val217Phe | |
NM_000673.7:c.589G>T MANE Select | NP_000664.3:p.Val197Phe | |
NM_001166504.2:c.649G>T | NP_001159976.1:p.Val217Phe |