HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189004118dup , CM000664.2:g.189004118dup | GRCh38 |
NC_000002.11:g.189868844dup , CM000664.1:g.189868844dup | GRCh37 |
NC_000002.10:g.189577089dup | NCBI36 |
NG_007404.1:g.34746dup , LRG_3:g.34746dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2699dup | ENSP00000415346.2:p.Ser901IlefsTer? | |
ENST00000304636.9:c.2798dup MANE Select | ENSP00000304408.4:p.Ser934IlefsTer? | |
ENST00000304636.7:c.2798dup | ENSP00000304408.3:p.Ser934IlefsTer? | |
ENST00000317840.9:c.2527+1082dup | ENSP00000315243.6:n.2527+1082dup | |
NM_000090.3:c.2798dup , LRG_3t1:c.2798dup | NP_000081.1:p.Ser934IlefsTer? | |
NM_000090.4:c.2798dup MANE Select | NP_000081.2:p.Ser934IlefsTer? |