HGVS | Genome Assembly |
---|---|
NC_000005.10:g.173232861T= , CM000667.2:g.173232861T= | GRCh38 |
NC_000005.9:g.172659864T= , CM000667.1:g.172659864T= | GRCh37 |
NC_000005.8:g.172592470T= | NCBI36 |
NG_013340.1:g.7452A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329198.5:c.683A= MANE Select | ENSP00000327758.4:p.Lys228= | |
ENST00000329198.4:c.683A= | ENSP00000327758.4:p.Lys228= | |
NM_001166175.1:c.*636A= | NP_001159647.1:n.*636A= | |
NM_001166176.1:c.*482A= | NP_001159648.1:n.*482A= | |
NM_004387.3:c.683A= | NP_004378.1:p.Lys228= | |
NM_004387.4:c.683A= MANE Select | NP_004378.1:p.Lys228= | |
NM_001166175.2:c.*636A= | NP_001159647.1:n.*636A= | |
NM_001166176.2:c.*482A= | NP_001159648.1:n.*482A= |