HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571386dup , CM000663.2:g.154571386dup | GRCh38 |
NC_000001.10:g.154543862dup , CM000663.1:g.154543862dup | GRCh37 |
NC_000001.9:g.152810486dup | NCBI36 |
NG_008027.1:g.8606dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.563dup MANE Select | ENSP00000357461.3:p.Ser189GlufsTer2 | |
ENST00000636034.1:c.563dup | ENSP00000489703.1:p.Ser189GlufsTer2 | |
ENST00000637900.1:c.569dup | ENSP00000490474.1:p.Ser191GlufsTer2 | |
ENST00000368476.3:c.563dup | ENSP00000357461.3:p.Ser189GlufsTer2 | |
NM_000748.2:c.563dup | NP_000739.1:p.Ser189GlufsTer2 | |
XM_017000180.2:c.53dup | XP_016855669.1:p.Ser19GlufsTer2 | |
XR_001736952.2:n.815dup | ||
NM_000748.3:c.563dup MANE Select | NP_000739.1:p.Ser189GlufsTer2 |