HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122472366_122472368dup , CM000672.2:g.122472366_122472368dup | GRCh38 |
NC_000010.10:g.124231882_124231884dup , CM000672.1:g.124231882_124231884dup | GRCh37 |
NC_000010.9:g.124221872_124221874dup | NCBI36 |
NG_011554.1:g.15842_15844dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.472+10242_472+10244dup MANE Select | ENSP00000357980.3:n.472+10242_472+10244dup | |
ENST00000648167.1:c.154+13657_154+13659dup | ENSP00000498033.1:n.154+13657_154+13659dup | |
ENST00000368984.7:c.472+10242_472+10244dup | ENSP00000357980.3:n.472+10242_472+10244dup | |
NM_002775.4:c.472+10242_472+10244dup | NP_002766.1:n.472+10242_472+10244dup | |
NM_002775.5:c.472+10242_472+10244dup MANE Select | NP_002766.1:n.472+10242_472+10244dup |