HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658582dup , CM000682.2:g.10658582dup | GRCh38 |
NC_000020.10:g.10639230dup , CM000682.1:g.10639230dup | GRCh37 |
NC_000020.9:g.10587230dup | NCBI36 |
NG_007496.1:g.20467dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.582dup MANE Select | ENSP00000254958.4:p.Gly195TrpfsTer4 | |
ENST00000254958.9:c.582dup | ENSP00000254958.4:p.Gly195TrpfsTer4 | |
ENST00000423891.6:n.448dup | ||
NM_000214.2:c.582dup | NP_000205.1:p.Gly195TrpfsTer4 | |
NM_000214.3:c.582dup MANE Select | NP_000205.1:p.Gly195TrpfsTer4 |