HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454318T= , CM000679.2:g.7454318T= | GRCh38 |
NC_000017.10:g.7357637T= , CM000679.1:g.7357637T= | GRCh37 |
NC_000017.9:g.7298361T= | NCBI36 |
NG_008026.1:g.14232T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.842T= MANE Select | ENSP00000304290.2:p.Ile281= | |
ENST00000306071.6:c.842T= | ENSP00000304290.2:p.Ile281= | |
ENST00000536404.6:c.626T= | ENSP00000439209.2:p.Ile209= | |
ENST00000570557.5:c.505T= | ||
ENST00000573209.1:n.1786T= | ||
ENST00000576360.1:c.605-126T= | ENSP00000459092.1:n.605-126T= | |
NM_000747.2:c.842T= | NP_000738.2:p.Ile281= | |
NM_000747.3:c.842T= MANE Select | NP_000738.2:p.Ile281= |