HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945946dup , CM000665.2:g.138945946dup | GRCh38 |
NC_000003.11:g.138664788dup , CM000665.1:g.138664788dup | GRCh37 |
NC_000003.10:g.140147478dup | NCBI36 |
NG_012454.1:g.6195dup | |
NG_029796.1:g.3713dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648323.1:c.777dup MANE Select | ENSP00000497217.1:p.Arg260ThrfsTer? | |
ENST00000330315.3:c.777dup | ENSP00000333188.3:p.Arg260ThrfsTer? | |
NM_023067.3:c.777dup | NP_075555.1:p.Arg260ThrfsTer? | |
NM_023067.4:c.777dup MANE Select | NP_075555.1:p.Arg260ThrfsTer? |