HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652055_171652056dup , CM000663.2:g.171652055_171652056dup | GRCh38 |
NC_000001.10:g.171621195_171621196dup , CM000663.1:g.171621195_171621196dup | GRCh37 |
NC_000001.9:g.169887818_169887819dup | NCBI36 |
NG_008859.1:g.5580_5581dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.558_559dup MANE Select | ENSP00000037502.5:p.Gln187ProfsTer30 | |
ENST00000638471.1:c.130+428_130+429dup | ENSP00000491206.1:n.130+428_130+429dup | |
ENST00000037502.10:c.558_559dup | ENSP00000037502.5:p.Gln187ProfsTer30 | |
ENST00000614688.1:c.558_559dup | ENSP00000478680.1:p.Gln187ProfsTer30 | |
NM_000261.1:c.558_559dup | NP_000252.1:p.Gln187ProfsTer30 | |
NM_000261.2:c.558_559dup MANE Select | NP_000252.1:p.Gln187ProfsTer30 |