HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339859dup , CM000669.2:g.17339859dup | GRCh38 |
NC_000007.13:g.17379483dup , CM000669.1:g.17379483dup | GRCh37 |
NC_000007.12:g.17346008dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.2034dup MANE Select | ENSP00000242057.4:p.His679ThrfsTer12 | |
ENST00000637807.1:c.2004dup | ENSP00000490530.1:p.His669ThrfsTer12 | |
ENST00000642825.1:c.1989dup | ENSP00000495987.1:p.His664ThrfsTer12 | |
ENST00000242057.8:c.2034dup | ENSP00000242057.4:p.His679ThrfsTer12 | |
ENST00000463496.1:c.2034dup | ENSP00000436466.1:p.His679ThrfsTer12 | |
NM_001621.4:c.2034dup | NP_001612.1:p.His679ThrfsTer12 | |
NM_001621.5:c.2034dup MANE Select | NP_001612.1:p.His679ThrfsTer12 |