HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420676T= , CM000666.2:g.99420676T= | GRCh38 |
NC_000004.11:g.100341833T= , CM000666.1:g.100341833T= | GRCh37 |
NC_000004.10:g.100560856T= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.682A= MANE Select | ENSP00000414254.2:p.Lys228= | |
ENST00000209665.8:c.718A= | ENSP00000209665.4:p.Lys240= | |
ENST00000437033.6:c.682A= | ENSP00000414254.2:p.Lys228= | |
ENST00000476959.5:c.742A= | ENSP00000420269.1:p.Lys248= | |
ENST00000482593.5:c.511A= | ENSP00000420613.1:p.Lys171= | |
NM_000673.4:c.718A= | NP_000664.2:p.Lys240= | |
NM_001166504.1:c.742A= | NP_001159976.1:p.Lys248= | |
NM_000673.7:c.682A= MANE Select | NP_000664.3:p.Lys228= | |
NM_001166504.2:c.742A= | NP_001159976.1:p.Lys248= |