HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133353896dup , CM000671.2:g.133353896dup | GRCh38 |
NC_000009.10:g.135210572dup | NCBI36 |
NG_008477.1:g.7615dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.372dup MANE Select | ENSP00000361042.3:p.Cys125ValfsTer3 | |
ENST00000371974.7:c.372dup | ENSP00000361042.3:p.Cys125ValfsTer3 | |
ENST00000437995.1:n.318dup | ||
ENST00000495952.5:n.362dup | ||
ENST00000615505.4:c.45dup | ENSP00000482067.1:p.Cys16ValfsTer3 | |
NM_001280787.1:c.45dup | NP_001267716.1:p.Cys16ValfsTer3 | |
NM_003172.3:c.372dup | NP_003163.1:p.Cys125ValfsTer3 | |
XM_011518942.1:c.45dup | XP_011517244.1:p.Cys16ValfsTer3 | |
NM_003172.4:c.372dup MANE Select | NP_003163.1:p.Cys125ValfsTer3 |