HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084678G= , CM000685.2:g.108084678G= | GRCh38 |
NC_000023.10:g.107327908G= , CM000685.1:g.107327908G= | GRCh37 |
NC_000023.9:g.107214564G= | NCBI36 |
NG_012521.1:g.11941C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*296C= MANE Select | ENSP00000217958.3:n.*296C= | |
ENST00000217958.7:c.*296C= | ENSP00000217958.3:n.*296C= | |
ENST00000372296.5:c.*442C= | ENSP00000361370.1:n.*442C= | |
NM_002814.3:c.*296C= | NP_002805.1:n.*296C= | |
NM_170750.2:c.*442C= | NP_736606.1:n.*442C= | |
NM_002814.4:c.*296C= MANE Select | NP_002805.1:n.*296C= | |
NM_170750.3:c.*442C= | NP_736606.1:n.*442C= |