HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55811960G>T , CM000673.2:g.55811960G>T | GRCh38 |
NC_000011.9:g.55579436G>T , CM000673.1:g.55579436G>T | GRCh37 |
NC_000011.8:g.55336012G>T | NCBI36 |
NG_052620.1:g.5594G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000625203.2:c.494G>T MANE Select | ENSP00000485319.1:p.Arg165Met | |
ENST00000333973.3:c.494G>T | ENSP00000335529.2:p.Arg165Met | |
ENST00000623450.1:c.494G>T | ENSP00000485509.1:p.Arg165Met | |
ENST00000625203.1:c.494G>T | ENSP00000485319.1:p.Arg165Met | |
NM_001004738.1:c.494G>T | NP_001004738.1:p.Arg165Met | |
NM_001004738.2:c.494G>T MANE Select | NP_001004738.1:p.Arg165Met |