HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48633466A= , CM000681.2:g.48633466A= | GRCh38 |
NC_000019.9:g.49136723A= , CM000681.1:g.49136723A= | GRCh37 |
NC_000019.8:g.53828535A= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222122.10:c.740T= MANE Select | ENSP00000222122.4:p.Ile247= | |
ENST00000222122.9:c.740T= | ENSP00000222122.4:p.Ile247= | |
ENST00000593500.1:c.134T= | ENSP00000471220.1:p.Ile45= | |
ENST00000594723.1:n.2983T= | ||
ENST00000599385.5:c.134T= | ENSP00000469426.1:p.Ile45= | |
ENST00000601104.1:c.740T= | ENSP00000469291.1:p.Ile247= | |
NM_001352.4:c.740T= | NP_001343.2:p.Ile247= | |
XM_017026388.2:c.311T= | XP_016881877.1:p.Ile104= | |
XR_243907.4:n.1645T= | ||
NM_001352.5:c.740T= MANE Select | NP_001343.2:p.Ile247= |