HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631358_4631383dup , CM000679.2:g.4631358_4631383dup | GRCh38 |
NC_000017.10:g.4534653_4534678dup , CM000679.1:g.4534653_4534678dup | GRCh37 |
NC_000017.9:g.4481402_4481427dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.*222_*247dup MANE Select | ENSP00000293761.3:n.*222_*247dup | |
ENST00000293761.7:c.*222_*247dup | ENSP00000293761.3:n.*222_*247dup | |
ENST00000570836.5:c.*222_*247dup | ENSP00000458832.1:n.*222_*247dup | |
ENST00000574640.1:c.*222_*247dup | ENSP00000460483.1:n.*222_*247dup | |
NM_001140.3:c.*222_*247dup | NP_001131.3:n.*222_*247dup | |
NM_001140.4:c.*222_*247dup | NP_001131.3:n.*222_*247dup | |
NM_001140.5:c.*222_*247dup MANE Select | NP_001131.3:n.*222_*247dup |