HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24256073G= , CM000676.2:g.24256073G= | GRCh38 |
NC_000014.8:g.24725279G= , CM000676.1:g.24725279G= | GRCh37 |
NC_000014.7:g.23795119G= | NCBI36 |
NG_007150.1:g.12094C= | |
NG_007150.2:g.12094C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.1407C= MANE Select | ENSP00000206765.6:p.Ile469= | |
ENST00000206765.10:c.1407C= | ENSP00000206765.6:p.Ile469= | |
ENST00000544573.5:c.81C= | ENSP00000439446.1:p.Ile27= | |
ENST00000559136.1:c.480C= | ENSP00000453337.1:p.Ile160= | |
NM_000359.2:c.1407C= | NP_000350.1:p.Ile469= | |
NM_000359.3:c.1407C= MANE Select | NP_000350.1:p.Ile469= |