HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24256065C>A , CM000676.2:g.24256065C>A | GRCh38 |
NC_000014.8:g.24725271C>A , CM000676.1:g.24725271C>A | GRCh37 |
NC_000014.7:g.23795111C>A | NCBI36 |
NG_007150.1:g.12102G>T | |
NG_007150.2:g.12102G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.1415G>T MANE Select | ENSP00000206765.6:p.Cys472Phe | |
ENST00000206765.10:c.1415G>T | ENSP00000206765.6:p.Cys472Phe | |
ENST00000544573.5:c.89G>T | ENSP00000439446.1:p.Cys30Phe | |
ENST00000559136.1:c.488G>T | ENSP00000453337.1:p.Cys163Phe | |
NM_000359.2:c.1415G>T | NP_000350.1:p.Cys472Phe | |
NM_000359.3:c.1415G>T MANE Select | NP_000350.1:p.Cys472Phe |