HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455284A= , CM000679.2:g.7455284A= | GRCh38 |
NC_000017.10:g.7358603A= , CM000679.1:g.7358603A= | GRCh37 |
NC_000017.9:g.7299327A= | NCBI36 |
NG_008026.1:g.15198A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1045A= MANE Select | ENSP00000304290.2:p.Ile349= | |
ENST00000306071.6:c.1045A= | ENSP00000304290.2:p.Ile349= | |
ENST00000536404.6:c.829A= | ENSP00000439209.2:p.Ile277= | |
ENST00000570557.5:c.708A= | ||
ENST00000573209.1:n.1989A= | ||
ENST00000576360.1:c.682A= | ENSP00000459092.1:p.Ile228= | |
NM_000747.2:c.1045A= | NP_000738.2:p.Ile349= | |
NM_000747.3:c.1045A= MANE Select | NP_000738.2:p.Ile349= |