HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151778A>G , CM000681.2:g.55151778A>G | GRCh38 |
NC_000019.9:g.55663146A>G , CM000681.1:g.55663146A>G | GRCh37 |
NC_000019.8:g.60354958A>G | NCBI36 |
NG_007866.2:g.10955T>C , LRG_432:g.10955T>C | |
NG_011829.2:g.2461T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.*56T>C MANE Select | ENSP00000341838.5:n.*56T>C | |
ENST00000665070.1:c.*56T>C | ENSP00000499482.1:n.*56T>C | |
ENST00000344887.9:c.*56T>C | ENSP00000341838.5:n.*56T>C | |
ENST00000585806.5:n.688T>C | ||
ENST00000588882.1:c.*56T>C | ENSP00000466729.1:n.*56T>C | |
ENST00000589864.1:n.517T>C | ||
NM_000363.4:c.*56T>C , LRG_432t1:c.*56T>C | NP_000354.4:n.*56T>C | |
NM_000363.5:c.*56T>C MANE Select | NP_000354.4:n.*56T>C |