HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122472346_122472347dup , CM000672.2:g.122472346_122472347dup | GRCh38 |
NC_000010.10:g.124231862_124231863dup , CM000672.1:g.124231862_124231863dup | GRCh37 |
NC_000010.9:g.124221852_124221853dup | NCBI36 |
NG_011554.1:g.15822_15823dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.472+10222_472+10223dup MANE Select | ENSP00000357980.3:n.472+10222_472+10223dup | |
ENST00000648167.1:c.154+13637_154+13638dup | ENSP00000498033.1:n.154+13637_154+13638dup | |
ENST00000368984.7:c.472+10222_472+10223dup | ENSP00000357980.3:n.472+10222_472+10223dup | |
NM_002775.4:c.472+10222_472+10223dup | NP_002766.1:n.472+10222_472+10223dup | |
NM_002775.5:c.472+10222_472+10223dup MANE Select | NP_002766.1:n.472+10222_472+10223dup |