HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022685dup , CM000663.2:g.17022685dup | GRCh38 |
NC_000001.10:g.17349180dup , CM000663.1:g.17349180dup | GRCh37 |
NC_000001.9:g.17221767dup | NCBI36 |
NG_012340.1:g.36486dup , LRG_316:g.36486dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.517dup | ENSP00000481376.2:p.Arg173ProfsTer26 | |
ENST00000491274.6:c.646dup | ENSP00000480482.2:p.Arg216ProfsTer26 | |
ENST00000375499.8:c.688dup MANE Select | ENSP00000364649.3:p.Arg230ProfsTer26 | |
ENST00000375499.7:c.688dup | ENSP00000364649.3:p.Arg230ProfsTer26 | |
ENST00000475049.5:n.113dup | ||
ENST00000485092.5:n.352dup | ||
ENST00000485515.5:n.622dup | ||
NM_003000.2:c.688dup , LRG_316t1:c.688dup | NP_002991.2:p.Arg230ProfsTer26 | |
NM_003000.3:c.688dup MANE Select | NP_002991.2:p.Arg230ProfsTer26 |