HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776761T>G , CM000677.2:g.89776761T>G | GRCh38 |
NC_000015.9:g.90319992T>G , CM000677.1:g.90319992T>G | GRCh37 |
NC_000015.8:g.88120996T>G | NCBI36 |
NG_008608.1:g.5404T>G | |
NG_008608.2:g.21171T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341735.5:c.404T>G MANE Select | ENSP00000342392.3:p.Leu135Arg | |
ENST00000341735.3:c.404T>G | ENSP00000342392.3:p.Leu135Arg | |
ENST00000558723.1:n.39-1304T>G | ||
ENST00000560219.2:c.31-1304T>G | ENSP00000452998.1:n.31-1304T>G | |
NM_001039958.1:c.404T>G | NP_001035047.1:p.Leu135Arg | |
NM_001039958.2:c.404T>G MANE Select | NP_001035047.1:p.Leu135Arg |