HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271179dup , CM000668.2:g.31271179dup | GRCh38 |
NC_000006.11:g.31238956dup , CM000668.1:g.31238956dup | GRCh37 |
NC_000006.10:g.31346935dup | NCBI36 |
NG_029422.2:g.5954dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.514dup MANE Select | ENSP00000365402.5:p.Glu172GlyfsTer? | |
ENST00000376228.9:c.514dup | ENSP00000365402.5:p.Glu172GlyfsTer? | |
ENST00000376237.8:c.*101dup | ENSP00000365412.4:n.*101dup | |
ENST00000383329.7:c.514dup | ENSP00000372819.3:p.Glu172GlyfsTer? | |
ENST00000415537.1:c.512dup | ||
ENST00000484378.1:n.783dup | ||
ENST00000487245.5:n.873dup | ||
ENST00000495835.1:n.703dup | ||
NM_002117.5:c.514dup | NP_002108.4:p.Glu172GlyfsTer? | |
NM_002117.6:c.514dup MANE Select | NP_002108.4:p.Glu172GlyfsTer? |