HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663217_36663223dup , CM000676.2:g.36663217_36663223dup | GRCh38 |
NC_000014.8:g.37132422_37132428dup , CM000676.1:g.37132422_37132428dup | GRCh37 |
NC_000014.7:g.36202173_36202179dup | NCBI36 |
NG_013357.1:g.10650_10656dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361487.7:c.325_331dup MANE Select | ENSP00000355245.6:p.Val111GlyfsTer? | |
ENST00000361487.6:c.325_331dup | ENSP00000355245.6:p.Val111GlyfsTer? | |
ENST00000402703.6:c.325_331dup | ENSP00000384817.2:p.Val111GlyfsTer? | |
ENST00000554201.1:c.-237_-231dup | ENSP00000450434.1:n.-237_-231dup | |
NM_006194.3:c.325_331dup | NP_006185.1:p.Val111GlyfsTer? | |
NM_001372076.1:c.325_331dup MANE Select | NP_001359005.1:p.Val111GlyfsTer? | |
NM_006194.4:c.325_331dup | NP_006185.1:p.Val111GlyfsTer? |