HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658602C>A , CM000682.2:g.10658602C>A | GRCh38 |
NC_000020.10:g.10639250C>A , CM000682.1:g.10639250C>A | GRCh37 |
NC_000020.9:g.10587250C>A | NCBI36 |
NG_007496.1:g.20445G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.560G>T MANE Select | ENSP00000254958.4:p.Cys187Phe | |
ENST00000254958.9:c.560G>T | ENSP00000254958.4:p.Cys187Phe | |
ENST00000423891.6:n.426G>T | ||
NM_000214.2:c.560G>T | NP_000205.1:p.Cys187Phe | |
NM_000214.3:c.560G>T MANE Select | NP_000205.1:p.Cys187Phe |