HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459717dup , CM000675.2:g.48459717dup | GRCh38 |
NC_000013.10:g.49033853dup , CM000675.1:g.49033853dup | GRCh37 |
NC_000013.9:g.47931854dup | NCBI36 |
NG_009009.1:g.160971dup , LRG_517:g.160971dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1990dup MANE Select | ENSP00000267163.4:p.Thr664AsnfsTer4 | |
ENST00000643064.1:c.194+78274dup | ||
ENST00000650461.1:c.1990dup | ENSP00000497193.1:p.Thr664AsnfsTer4 | |
ENST00000267163.4:c.1990dup | ENSP00000267163.4:p.Thr664AsnfsTer4 | |
NM_000321.2:c.1990dup , LRG_517t1:c.1990dup | NP_000312.2:p.Thr664AsnfsTer4 | |
XM_011535171.1:c.1729dup | XP_011533473.1:p.Thr577AsnfsTer4 | |
XM_011535171.2:c.1729dup | XP_011533473.1:p.Thr577AsnfsTer4 | |
NM_000321.3:c.1990dup MANE Select | NP_000312.2:p.Thr664AsnfsTer4 |