HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572865C= , CM000685.2:g.47572865C= | GRCh38 |
NC_000023.10:g.47432264C= , CM000685.1:g.47432264C= | GRCh37 |
NC_000023.9:g.47317208C= | NCBI36 |
NG_008437.1:g.51993G= | |
NG_016339.1:g.16749C= | |
NG_016339.2:g.16749C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2117G= MANE Select | ENSP00000295987.7:p.Ter706= | |
ENST00000340666.5:c.*69G= | ENSP00000343206.4:n.*69G= | |
ENST00000640721.1:c.167G= | ENSP00000492857.1:p.Ter56= | |
ENST00000295987.11:c.2117G= | ENSP00000295987.7:p.Ter706= | |
ENST00000340666.4:c.*69G= | ENSP00000343206.4:n.*69G= | |
NM_006950.3:c.2117G= MANE Select | NP_008881.2:p.Ter706= | |
NM_133499.2:c.*69G= | NP_598006.1:n.*69G= |