HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320498dup , CM000667.2:g.159320498dup | GRCh38 |
NC_000005.9:g.158747506dup , CM000667.1:g.158747506dup | GRCh37 |
NC_000005.8:g.158680084dup | NCBI36 |
NG_009618.1:g.14976dup , LRG_71:g.14976dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-126dup | ENSP00000512849.1:n.-126dup | |
ENST00000696751.1:c.387dup | ENSP00000512850.1:n.387dup | |
ENST00000231228.3:c.505dup MANE Select | ENSP00000231228.2:p.Thr169AsnfsTer20 | |
ENST00000231228.2:c.505dup | ENSP00000231228.2:p.Thr169AsnfsTer20 | |
NM_002187.2:c.505dup , LRG_71t1:c.505dup | NP_002178.2:p.Thr169AsnfsTer20 | |
XR_001742945.1:n.49dup | ||
NM_002187.3:c.505dup MANE Select | NP_002178.2:p.Thr169AsnfsTer20 |