HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893271A>T , CM000664.2:g.218893271A>T | GRCh38 |
NC_000002.11:g.219757993A>T , CM000664.1:g.219757993A>T | GRCh37 |
NC_000002.10:g.219466237A>T | NCBI36 |
NG_012179.1:g.17739A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.1254A>T MANE Select | ENSP00000258411.3:p.Ter418Cys | |
ENST00000258411.7:c.1254A>T | ENSP00000258411.3:p.Ter418Cys | |
ENST00000489887.1:n.47+4A>T | ||
NM_025216.2:c.1254A>T | NP_079492.2:p.Ter418Cys | |
XM_011511928.1:c.1203A>T | XP_011510230.1:p.Ter401Cys | |
XM_011511929.1:c.1158A>T | XP_011510231.1:p.Ter386Cys | |
XM_011511930.1:c.874A>T | XP_011510232.1:p.Ser292Cys | |
XM_011511929.2:c.1158A>T | XP_011510231.1:p.Ter386Cys | |
NM_025216.3:c.1254A>T MANE Select | NP_079492.2:p.Ter418Cys |