HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24256001G= , CM000676.2:g.24256001G= | GRCh38 |
NC_000014.8:g.24725207G= , CM000676.1:g.24725207G= | GRCh37 |
NC_000014.7:g.23795047G= | NCBI36 |
NG_007150.1:g.12166C= | |
NG_007150.2:g.12166C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1479C= MANE Select | ENSP00000206765.6:p.Phe493= | |
ENST00000206765.10:c.1479C= | ENSP00000206765.6:p.Phe493= | |
ENST00000544573.5:c.153C= | ENSP00000439446.1:p.Phe51= | |
ENST00000559136.1:c.552C= | ENSP00000453337.1:p.Phe184= | |
NM_000359.2:c.1479C= | NP_000350.1:p.Phe493= | |
NM_000359.3:c.1479C= MANE Select | NP_000350.1:p.Phe493= |