HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085896G>A , CM000666.2:g.186085896G>A | GRCh38 |
NC_000004.11:g.187007050G>A , CM000666.1:g.187007050G>A | GRCh37 |
NC_000004.10:g.187244044G>A | NCBI36 |
NG_007278.1:g.21742G>A , LRG_117:g.21742G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3290G>A | ENSP00000513675.1:n.*3290G>A | |
ENST00000698353.1:n.3613G>A | ||
ENST00000698354.1:c.*1023G>A | ENSP00000513676.1:n.*1023G>A | |
ENST00000296795.8:c.*1023G>A MANE Select | ENSP00000296795.3:n.*1023G>A | |
ENST00000296795.7:c.*1023G>A | ENSP00000296795.2:n.*1023G>A | |
NM_003265.3:c.*1023G>A MANE Select | NP_003256.1:n.*1023G>A |