HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946078_138946099dup , CM000665.2:g.138946078_138946099dup | GRCh38 |
NC_000003.11:g.138664920_138664941dup , CM000665.1:g.138664920_138664941dup | GRCh37 |
NC_000003.10:g.140147610_140147631dup | NCBI36 |
NG_012454.1:g.6048_6069dup | |
NG_029796.1:g.3845_3866dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648323.1:c.630_651dup MANE Select | ENSP00000497217.1:p.Cys218LeufsTer28 | |
ENST00000330315.3:c.630_651dup | ENSP00000333188.3:p.Cys218LeufsTer28 | |
NM_023067.3:c.630_651dup | NP_075555.1:p.Cys218LeufsTer28 | |
NM_023067.4:c.630_651dup MANE Select | NP_075555.1:p.Cys218LeufsTer28 |