HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268874A>T , CM000668.2:g.31268874A>T | GRCh38 |
NC_000006.11:g.31236651A>T , CM000668.1:g.31236651A>T | GRCh37 |
NC_000006.10:g.31344630A>T | NCBI36 |
NG_029422.2:g.8258T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*295T>A MANE Select | ENSP00000365402.5:n.*295T>A | |
ENST00000376228.9:c.*295T>A | ENSP00000365402.5:n.*295T>A | |
ENST00000376237.8:c.*983T>A | ENSP00000365412.4:n.*983T>A | |
ENST00000383329.7:c.*295T>A | ENSP00000372819.3:n.*295T>A | |
ENST00000466892.5:n.629T>A | ||
ENST00000470363.5:n.1154T>A | ||
ENST00000487245.5:n.1755T>A | ||
NM_002117.5:c.*295T>A | NP_002108.4:n.*295T>A | |
NM_002117.6:c.*295T>A MANE Select | NP_002108.4:n.*295T>A |