HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107701925dup , CM000669.2:g.107701925dup | GRCh38 |
NC_000007.13:g.107342370dup , CM000669.1:g.107342370dup | GRCh37 |
NC_000007.12:g.107129606dup | NCBI36 |
NG_008489.1:g.46291dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.1902dup MANE Select | ENSP00000494017.1:p.Glu635ArgfsTer9 | |
ENST00000644846.1:c.613dup | ||
ENST00000265715.7:c.1902dup | ENSP00000265715.3:p.Glu635ArgfsTer9 | |
ENST00000492030.2:n.189dup | ||
NM_000441.1:c.1902dup | NP_000432.1:p.Glu635ArgfsTer9 | |
XM_005250425.1:c.1902dup | XP_005250482.1:p.Glu635ArgfsTer9 | |
XM_005250425.2:c.1902dup | XP_005250482.1:p.Glu635ArgfsTer9 | |
XM_017012318.1:c.1824dup | XP_016867807.1:p.Glu609ArgfsTer9 | |
NM_000441.2:c.1902dup MANE Select | NP_000432.1:p.Glu635ArgfsTer9 |