HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084648C>A , CM000685.2:g.108084648C>A | GRCh38 |
NC_000023.10:g.107327878C>A , CM000685.1:g.107327878C>A | GRCh37 |
NC_000023.9:g.107214534C>A | NCBI36 |
NG_012521.1:g.11971G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*326G>T MANE Select | ENSP00000217958.3:n.*326G>T | |
ENST00000217958.7:c.*326G>T | ENSP00000217958.3:n.*326G>T | |
ENST00000372296.5:c.*472G>T | ENSP00000361370.1:n.*472G>T | |
NM_002814.3:c.*326G>T | NP_002805.1:n.*326G>T | |
NM_170750.2:c.*472G>T | NP_736606.1:n.*472G>T | |
NM_002814.4:c.*326G>T MANE Select | NP_002805.1:n.*326G>T | |
NM_170750.3:c.*472G>T | NP_736606.1:n.*472G>T |