HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21816646dup , CM000669.2:g.21816646dup | GRCh38 |
NC_000007.13:g.21856264dup , CM000669.1:g.21856264dup | GRCh37 |
NC_000007.12:g.21822789dup | NCBI36 |
NG_012886.2:g.278432dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.10512dup MANE Select | ENSP00000475939.1:p.Trp3505ValfsTer5 | |
ENST00000328843.10:c.10533dup | ENSP00000330671.7:p.Trp3512ValfsTer5 | |
ENST00000409508.7:c.10512dup | ENSP00000475939.1:p.Trp3505ValfsTer5 | |
ENST00000620169.4:c.10533dup | ENSP00000481693.1:p.Trp3512ValfsTer5 | |
NM_001277115.1:c.10512dup | NP_001264044.1:p.Trp3505ValfsTer5 | |
NM_001277115.2:c.10512dup MANE Select | NP_001264044.1:p.Trp3505ValfsTer5 |