HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270363G= , CM000668.2:g.31270363G= | GRCh38 |
NC_000006.11:g.31238140G= , CM000668.1:g.31238140G= | GRCh37 |
NC_000006.10:g.31346119G= | NCBI36 |
NG_029422.2:g.6769C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.742C= MANE Select | ENSP00000365402.5:p.Gln248= | |
ENST00000376228.9:c.742C= | ENSP00000365402.5:p.Gln248= | |
ENST00000376237.8:c.*329C= | ENSP00000365412.4:n.*329C= | |
ENST00000383329.7:c.742C= | ENSP00000372819.3:p.Gln248= | |
ENST00000415537.1:c.665-32C= | ||
ENST00000470363.5:n.60C= | ||
ENST00000487245.5:n.1101C= | ||
ENST00000495835.1:n.931C= | ||
NM_002117.5:c.742C= | NP_002108.4:p.Gln248= | |
NM_002117.6:c.742C= MANE Select | NP_002108.4:p.Gln248= |