HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17395863_17395865dup , CM000663.2:g.17395863_17395865dup | GRCh38 |
NC_000001.10:g.17722359_17722361dup , CM000663.1:g.17722359_17722361dup | GRCh37 |
NC_000001.9:g.17594946_17594948dup | NCBI36 |
NG_032943.1:g.28618_28620dup | |
NG_032943.2:g.28618_28620dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.1618+200_1618+202dup MANE Select | ENSP00000483125.1:n.1618+200_1618+202dup | |
NM_207421.4:c.1618+200_1618+202dup MANE Select | NP_997304.3:n.1618+200_1618+202dup |