HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13728671T>A , CM000673.2:g.13728671T>A | GRCh38 |
NC_000011.9:g.13750218T>A , CM000673.1:g.13750218T>A | GRCh37 |
NC_000011.8:g.13706794T>A | NCBI36 |
NG_041826.1:g.65013T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703358.1:c.*270T>A | ENSP00000515269.1:n.*270T>A | |
ENST00000354817.8:c.1445T>A MANE Select | ENSP00000346874.3:p.Phe482Tyr | |
ENST00000354817.7:c.1445T>A | ENSP00000346874.3:p.Phe482Tyr | |
ENST00000532502.1:c.317T>A | ENSP00000434624.1:p.Phe106Tyr | |
NM_032228.5:c.1445T>A | NP_115604.1:p.Phe482Tyr | |
XM_011520400.1:c.1454T>A | XP_011518702.1:p.Phe485Tyr | |
XM_011520401.1:c.1277T>A | XP_011518703.1:p.Phe426Tyr | |
XM_011520400.2:c.1454T>A | XP_011518702.1:p.Phe485Tyr | |
NM_032228.6:c.1445T>A MANE Select | NP_115604.1:p.Phe482Tyr |