HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49457766dup , CM000668.2:g.49457766dup | GRCh38 |
NC_000006.11:g.49425479dup , CM000668.1:g.49425479dup | GRCh37 |
NC_000006.10:g.49533438dup | NCBI36 |
NG_007100.1:g.10375dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.679dup MANE Select | ENSP00000274813.3:p.Val227GlyfsTer18 | |
ENST00000274813.3:c.679dup | ENSP00000274813.3:p.Val227GlyfsTer18 | |
NM_000255.3:c.679dup | NP_000246.2:p.Val227GlyfsTer18 | |
XM_005249143.2:c.679dup | XP_005249200.1:p.Val227GlyfsTer18 | |
XM_005249143.3:c.679dup | XP_005249200.1:p.Val227GlyfsTer18 | |
NM_000255.4:c.679dup MANE Select | NP_000246.2:p.Val227GlyfsTer18 |