HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186086072C>T , CM000666.2:g.186086072C>T | GRCh38 |
NC_000004.11:g.187007226C>T , CM000666.1:g.187007226C>T | GRCh37 |
NC_000004.10:g.187244220C>T | NCBI36 |
NG_007278.1:g.21918C>T , LRG_117:g.21918C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3466C>T | ENSP00000513675.1:n.*3466C>T | |
ENST00000698353.1:n.3789C>T | ||
ENST00000698354.1:c.*1199C>T | ENSP00000513676.1:n.*1199C>T | |
ENST00000296795.8:c.*1199C>T MANE Select | ENSP00000296795.3:n.*1199C>T | |
ENST00000296795.7:c.*1199C>T | ENSP00000296795.2:n.*1199C>T | |
NM_003265.3:c.*1199C>T MANE Select | NP_003256.1:n.*1199C>T |