HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80275187dup , CM000672.2:g.80275187dup | GRCh38 |
NC_000010.10:g.82034943dup , CM000672.1:g.82034943dup | GRCh37 |
NC_000010.9:g.82024923dup | NCBI36 |
NG_008083.1:g.19492dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372213.8:c.781dup MANE Select | ENSP00000361287.3:p.Val261GlyfsTer5 | |
ENST00000372213.7:c.781dup | ENSP00000361287.3:p.Val261GlyfsTer5 | |
ENST00000480845.1:n.13dup | ||
ENST00000485270.5:n.293dup | ||
NM_000429.2:c.781dup | NP_000420.1:p.Val261GlyfsTer5 | |
XM_005269842.3:c.781dup | XP_005269899.1:p.Val261GlyfsTer5 | |
XM_005269843.3:c.658dup | XP_005269900.1:p.Val220GlyfsTer5 | |
NM_000429.3:c.781dup MANE Select | NP_000420.1:p.Val261GlyfsTer5 |