HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134475265dup , CM000685.2:g.134475265dup | GRCh38 |
NC_000023.10:g.133609295dup , CM000685.1:g.133609295dup | GRCh37 |
NC_000023.9:g.133436961dup | NCBI36 |
NG_012329.1:g.20121dup | |
NG_012329.2:g.20121dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298556.8:c.219dup MANE Select | ENSP00000298556.7:p.Phe74IlefsTer4 | |
ENST00000298556.7:c.219dup | ENSP00000298556.7:p.Phe74IlefsTer4 | |
ENST00000462974.5:n.377dup | ||
ENST00000475720.1:n.177dup | ||
NM_000194.2:c.219dup | NP_000185.1:p.Phe74IlefsTer4 | |
XM_011531328.1:c.237dup | XP_011529630.1:p.Phe80IlefsTer4 | |
NM_000194.3:c.219dup MANE Select | NP_000185.1:p.Phe74IlefsTer4 |