HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20425741dup , CM000684.2:g.20425741dup | GRCh38 |
NC_000022.10:g.20780029dup , CM000684.1:g.20780029dup | GRCh37 |
NC_000022.9:g.19110029dup | NCBI36 |
NG_031868.2:g.17120dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000622235.5:c.2236dup MANE Select | ENSP00000477564.2:p.Arg746ProfsTer28 | |
ENST00000615031.4:c.2250dup | ENSP00000479389.1:p.Ala751ArgfsTer27 | |
ENST00000622235.4:c.2236dup | ENSP00000477564.1:p.Arg746ProfsTer28 | |
ENST00000623402.1:c.2251dup | ENSP00000485276.1:p.Arg751ProfsTer28 | |
NM_153334.6:c.2251dup | NP_699165.3:p.Arg751ProfsTer28 | |
NM_182895.4:c.2236dup | NP_878315.2:p.Arg746ProfsTer28 | |
NM_153334.7:c.2251dup | NP_699165.3:p.Arg751ProfsTer28 | |
NM_182895.5:c.2236dup MANE Select | NP_878315.2:p.Arg746ProfsTer28 |