HGVS | Genome Assembly |
---|---|
NC_000006.12:g.7881086C>A , CM000668.2:g.7881086C>A | GRCh38 |
NC_000006.11:g.7881319C>A , CM000668.1:g.7881319C>A | GRCh37 |
NC_000006.10:g.7826318C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000283147.7:c.*743C>A MANE Select | ENSP00000283147.6:n.*743C>A | |
ENST00000283147.6:c.*743C>A | ENSP00000283147.6:n.*743C>A | |
NM_001718.4:c.*743C>A | NP_001709.1:n.*743C>A | |
NM_001718.5:c.*743C>A | NP_001709.1:n.*743C>A | |
NM_001718.6:c.*743C>A MANE Select | NP_001709.1:n.*743C>A |