HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582354G>A , CM000673.2:g.47582354G>A | GRCh38 |
NC_000011.9:g.47603906G>A , CM000673.1:g.47603906G>A | GRCh37 |
NC_000011.8:g.47560482G>A | NCBI36 |
NG_011946.1:g.8345G>A | |
NG_011946.2:g.8345G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263774.9:c.513G>A MANE Select | ENSP00000263774.4:p.Trp171Ter | |
ENST00000531351.2:n.1708G>A | ||
ENST00000677462.1:n.2987G>A | ||
ENST00000678975.1:n.2770G>A | ||
ENST00000263774.8:c.513G>A | ENSP00000263774.4:p.Trp171Ter | |
ENST00000524568.1:n.616G>A | ||
ENST00000525212.1:n.168G>A | ||
ENST00000525378.5:n.451G>A | ||
ENST00000527178.1:n.113G>A | ||
ENST00000533507.5:n.1407G>A | ||
NM_004551.2:c.513G>A | NP_004542.1:p.Trp171Ter | |
NM_004551.3:c.513G>A MANE Select | NP_004542.1:p.Trp171Ter |