HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893269T>A , CM000664.2:g.218893269T>A | GRCh38 |
NC_000002.11:g.219757991T>A , CM000664.1:g.219757991T>A | GRCh37 |
NC_000002.10:g.219466235T>A | NCBI36 |
NG_012179.1:g.17737T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.1252T>A MANE Select | ENSP00000258411.3:p.Ter418Arg | |
ENST00000258411.7:c.1252T>A | ENSP00000258411.3:p.Ter418Arg | |
ENST00000489887.1:n.47+2T>A | ||
NM_025216.2:c.1252T>A | NP_079492.2:p.Ter418Arg | |
XM_011511928.1:c.1201T>A | XP_011510230.1:p.Ter401Arg | |
XM_011511929.1:c.1156T>A | XP_011510231.1:p.Ter386Arg | |
XM_011511930.1:c.872T>A | XP_011510232.1:p.Val291Glu | |
XM_011511929.2:c.1156T>A | XP_011510231.1:p.Ter386Arg | |
NM_025216.3:c.1252T>A MANE Select | NP_079492.2:p.Ter418Arg |