HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177608994C>T , CM000667.2:g.177608994C>T | GRCh38 |
NC_000005.9:g.177035995C>T , CM000667.1:g.177035995C>T | GRCh37 |
NC_000005.8:g.176968601C>T | NCBI36 |
NG_015977.1:g.13877C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000029410.10:c.808C>T MANE Select | ENSP00000029410.5:p.Arg270Cys | |
ENST00000029410.9:c.808C>T | ENSP00000029410.5:p.Arg270Cys | |
ENST00000505145.1:n.1906C>T | ||
ENST00000505433.5:c.*314C>T | ENSP00000425591.1:n.*314C>T | |
ENST00000515353.1:n.1630C>T | ||
NM_007255.2:c.808C>T | NP_009186.1:p.Arg270Cys | |
XM_005265805.2:c.466C>T | XP_005265862.1:p.Arg156Cys | |
XM_006714816.2:c.328C>T | XP_006714879.1:p.Arg110Cys | |
XM_011534421.1:c.466C>T | XP_011532723.1:p.Arg156Cys | |
XM_006714816.4:c.328C>T | XP_006714879.1:p.Arg110Cys | |
XM_017008999.2:c.466C>T | XP_016864488.1:p.Arg156Cys | |
NM_007255.3:c.808C>T MANE Select | NP_009186.1:p.Arg270Cys |