HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268932_31268933dup , CM000668.2:g.31268932_31268933dup | GRCh38 |
NC_000006.11:g.31236709_31236710dup , CM000668.1:g.31236709_31236710dup | GRCh37 |
NC_000006.10:g.31344688_31344689dup | NCBI36 |
NG_029422.2:g.8200_8201dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*237_*238dup MANE Select | ENSP00000365402.5:n.*237_*238dup | |
ENST00000376228.9:c.*237_*238dup | ENSP00000365402.5:n.*237_*238dup | |
ENST00000376237.8:c.*925_*926dup | ENSP00000365412.4:n.*925_*926dup | |
ENST00000383329.7:c.*237_*238dup | ENSP00000372819.3:n.*237_*238dup | |
ENST00000466892.5:n.571_572dup | ||
ENST00000470363.5:n.1096_1097dup | ||
ENST00000487245.5:n.1697_1698dup | ||
NM_002117.5:c.*237_*238dup | NP_002108.4:n.*237_*238dup | |
NM_002117.6:c.*237_*238dup MANE Select | NP_002108.4:n.*237_*238dup |