HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268769T>A , CM000668.2:g.31268769T>A | GRCh38 |
NC_000006.11:g.31236546T>A , CM000668.1:g.31236546T>A | GRCh37 |
NC_000006.10:g.31344525T>A | NCBI36 |
NG_029422.2:g.8363A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*400A>T MANE Select | ENSP00000365402.5:n.*400A>T | |
ENST00000376228.9:c.*400A>T | ENSP00000365402.5:n.*400A>T | |
ENST00000376237.8:c.*1088A>T | ENSP00000365412.4:n.*1088A>T | |
ENST00000383329.7:c.*400A>T | ENSP00000372819.3:n.*400A>T | |
ENST00000466892.5:n.734A>T | ||
ENST00000470363.5:n.1259A>T | ||
ENST00000487245.5:n.1860A>T | ||
NM_002117.5:c.*400A>T | NP_002108.4:n.*400A>T | |
NM_002117.6:c.*400A>T MANE Select | NP_002108.4:n.*400A>T |