HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420597A>C , CM000666.2:g.99420597A>C | GRCh38 |
NC_000004.11:g.100341754A>C , CM000666.1:g.100341754A>C | GRCh37 |
NC_000004.10:g.100560777A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.761T>G MANE Select | ENSP00000414254.2:p.Leu254Arg | |
ENST00000209665.8:c.797T>G | ENSP00000209665.4:p.Leu266Arg | |
ENST00000437033.6:c.761T>G | ENSP00000414254.2:p.Leu254Arg | |
ENST00000476959.5:c.821T>G | ENSP00000420269.1:p.Leu274Arg | |
ENST00000482593.5:c.590T>G | ENSP00000420613.1:p.Leu197Arg | |
NM_000673.4:c.797T>G | NP_000664.2:p.Leu266Arg | |
NM_001166504.1:c.821T>G | NP_001159976.1:p.Leu274Arg | |
NM_000673.7:c.761T>G MANE Select | NP_000664.3:p.Leu254Arg | |
NM_001166504.2:c.821T>G | NP_001159976.1:p.Leu274Arg |