HGVS | Genome Assembly |
---|---|
NC_000003.12:g.172506519dup , CM000665.2:g.172506519dup | GRCh38 |
NC_000003.11:g.172224309dup , CM000665.1:g.172224309dup | GRCh37 |
NC_000003.10:g.173707003dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000241261.7:c.825dup MANE Select | ENSP00000241261.2:p.Gly276TrpfsTer26 | |
ENST00000241261.6:c.825dup | ENSP00000241261.2:p.Gly276TrpfsTer26 | |
ENST00000420541.6:c.*371dup | ENSP00000389931.2:n.*371dup | |
NM_001190942.1:c.*371dup | NP_001177871.1:n.*371dup | |
NM_003810.3:c.825dup | NP_003801.1:p.Gly276TrpfsTer26 | |
NR_033994.1:n.905dup | ||
NM_003810.4:c.825dup MANE Select | NP_003801.1:p.Gly276TrpfsTer26 | |
NM_001190942.2:c.*371dup | NP_001177871.1:n.*371dup | |
NR_033994.2:n.828dup |