HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420710T>C , CM000666.2:g.99420710T>C | GRCh38 |
NC_000004.11:g.100341867T>C , CM000666.1:g.100341867T>C | GRCh37 |
NC_000004.10:g.100560890T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000437033.7:c.648A>G MANE Select | ENSP00000414254.2:p.Ala216= | |
ENST00000209665.8:c.684A>G | ENSP00000209665.4:p.Ala228= | |
ENST00000437033.6:c.648A>G | ENSP00000414254.2:p.Ala216= | |
ENST00000476959.5:c.708A>G | ENSP00000420269.1:p.Ala236= | |
ENST00000482593.5:c.477A>G | ENSP00000420613.1:p.Ala159= | |
NM_000673.4:c.684A>G | NP_000664.2:p.Ala228= | |
NM_001166504.1:c.708A>G | NP_001159976.1:p.Ala236= | |
NM_000673.7:c.648A>G MANE Select | NP_000664.3:p.Ala216= | |
NM_001166504.2:c.708A>G | NP_001159976.1:p.Ala236= |