HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269103G= , CM000668.2:g.31269103G= | GRCh38 |
NC_000006.11:g.31236880G= , CM000668.1:g.31236880G= | GRCh37 |
NC_000006.10:g.31344859G= | NCBI36 |
NG_029422.2:g.8029C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*66C= MANE Select | ENSP00000365402.5:n.*66C= | |
ENST00000376228.9:c.*66C= | ENSP00000365402.5:n.*66C= | |
ENST00000376237.8:c.*754C= | ENSP00000365412.4:n.*754C= | |
ENST00000383329.7:c.*66C= | ENSP00000372819.3:n.*66C= | |
ENST00000466892.5:n.400C= | ||
ENST00000470363.5:n.925C= | ||
ENST00000487245.5:n.1526C= | ||
NM_002117.5:c.*66C= | NP_002108.4:n.*66C= | |
NM_002117.6:c.*66C= MANE Select | NP_002108.4:n.*66C= |