HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776881C>A , CM000677.2:g.89776881C>A | GRCh38 |
NC_000015.9:g.90320112C>A , CM000677.1:g.90320112C>A | GRCh37 |
NC_000015.8:g.88121116C>A | NCBI36 |
NG_008608.1:g.5524C>A | |
NG_008608.2:g.21291C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341735.5:c.524C>A MANE Select | ENSP00000342392.3:p.Thr175Lys | |
ENST00000341735.3:c.524C>A | ENSP00000342392.3:p.Thr175Lys | |
ENST00000558723.1:n.39-1184C>A | ||
ENST00000560219.2:c.31-1184C>A | ENSP00000452998.1:n.31-1184C>A | |
NM_001039958.1:c.524C>A | NP_001035047.1:p.Thr175Lys | |
NM_001039958.2:c.524C>A MANE Select | NP_001035047.1:p.Thr175Lys |