HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66214465dup , CM000679.2:g.66214465dup | GRCh38 |
NC_000017.10:g.64210583dup , CM000679.1:g.64210583dup | GRCh37 |
NC_000017.9:g.61641045dup | NCBI36 |
NG_012045.1:g.19976dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000205948.11:c.972dup MANE Select | ENSP00000205948.6:p.Cys325MetfsTer14 | |
ENST00000205948.10:c.972dup | ENSP00000205948.6:p.Cys325MetfsTer14 | |
ENST00000585162.1:c.258-2275dup | ||
NM_000042.2:c.972dup | NP_000033.2:p.Cys325MetfsTer14 | |
NM_000042.3:c.972dup MANE Select | NP_000033.2:p.Cys325MetfsTer14 |