HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3083173dup , CM000682.2:g.3083173dup | GRCh38 |
NC_000020.10:g.3063819dup , CM000682.1:g.3063819dup | GRCh37 |
NC_000020.9:g.3011819dup | NCBI36 |
NG_008663.1:g.6555dup , LRG_715:g.6555dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.129dup MANE Select | ENSP00000369647.3:p.Cys44LeufsTer28 | |
NM_000490.4:c.129dup , LRG_715t1:c.129dup | NP_000481.2:p.Cys44LeufsTer28 | |
XM_011529267.1:c.129dup | XP_011527569.1:p.Cys44LeufsTer28 | |
XM_011529267.2:c.129dup | XP_011527569.1:p.Cys44LeufsTer28 | |
NM_000490.5:c.129dup MANE Select | NP_000481.2:p.Cys44LeufsTer28 |