HGVS | Genome Assembly |
---|---|
NC_000001.11:g.22120370dup , CM000663.2:g.22120370dup | GRCh38 |
NC_000001.10:g.22446863dup , CM000663.1:g.22446863dup | GRCh37 |
NC_000001.9:g.22319450dup | NCBI36 |
NG_008974.1:g.27658dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290167.11:c.737dup MANE Select | ENSP00000290167.5:p.Arg247ThrfsTer22 | |
ENST00000290167.10:c.737dup | ENSP00000290167.5:p.Arg247ThrfsTer22 | |
NM_030761.4:c.737dup | NP_110388.2:p.Arg247ThrfsTer22 | |
XM_011541597.1:c.803dup | XP_011539899.1:p.Arg269ThrfsTer22 | |
XM_011541598.1:c.572dup | XP_011539900.1:p.Arg192ThrfsTer22 | |
XM_011541597.2:c.803dup | XP_011539899.1:p.Arg269ThrfsTer22 | |
XM_011541598.2:c.572dup | XP_011539900.1:p.Arg192ThrfsTer22 | |
NM_030761.5:c.737dup MANE Select | NP_110388.2:p.Arg247ThrfsTer22 |