Linked Data
ClinVar Variation Id:
187314
dbSNP Id:
rs200009601
ExAC:
17:33433431 C / T
gnomAD v2:
17-33433431-C-T
gnomAD v3:
17-35106412-C-T
gnomAD v4:
17-35106412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35106412C>T , CM000679.2:g.35106412C>T | GRCh38 |
| NC_000017.10:g.33433431C>T , CM000679.1:g.33433431C>T | GRCh37 |
| NC_000017.9:g.30457544C>T | NCBI36 |
| NG_031858.1:g.18458G>A , LRG_516:g.18458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.415G>A | ENSP00000468273.3:p.Glu139Lys | |
| ENST00000587405.6:c.193G>A | ENSP00000466478.2:p.Glu65Lys | |
| ENST00000590016.6:c.610G>A | ENSP00000466399.1:p.Glu204Lys | |
| ENST00000590631.2:n.506G>A | ||
| ENST00000592577.6:c.193G>A | ENSP00000466839.2:p.Glu65Lys | |
| ENST00000345365.11:c.550G>A MANE Select | ENSP00000338790.6:p.Glu184Lys | |
| ENST00000335858.11:c.214G>A | ENSP00000338408.6:p.Glu72Lys | |
| ENST00000345365.10:c.550G>A | ENSP00000338790.6:p.Glu184Lys | |
| ENST00000394589.8:c.550G>A | ENSP00000378090.4:p.Glu184Lys | |
| ENST00000415064.6:n.700G>A | ||
| ENST00000460118.6:c.19G>A | ENSP00000464356.2:p.Glu7Lys | |
| ENST00000585947.5:n.446G>A | ||
| ENST00000585982.5:n.570G>A | ||
| ENST00000586044.5:c.*281G>A | ENSP00000465584.1:n.*281G>A | |
| ENST00000586210.5:c.*144G>A | ENSP00000465612.1:n.*144G>A | |
| ENST00000587405.5:c.193G>A | ENSP00000466478.1:p.Glu65Lys | |
| ENST00000587977.5:c.*290G>A | ENSP00000466587.1:n.*290G>A | |
| ENST00000587982.5:n.343G>A | ||
| ENST00000588372.5:c.193G>A | ENSP00000468764.1:p.Glu65Lys | |
| ENST00000588594.5:c.*146G>A | ENSP00000465366.1:n.*146G>A | |
| ENST00000590016.5:c.610G>A | ENSP00000466399.1:p.Glu204Lys | |
| ENST00000590631.1:c.19G>A | ENSP00000465033.1:p.Glu7Lys | |
| ENST00000591723.5:c.19G>A | ENSP00000467986.1:p.Glu7Lys | |
| ENST00000592181.1:c.193G>A | ENSP00000464799.1:p.Glu65Lys | |
| ENST00000592430.5:n.519G>A | ||
| ENST00000592577.5:c.556G>A | ENSP00000466839.1:p.Glu186Lys | |
| ENST00000593039.5:c.73G>A | ENSP00000466834.1:p.Glu25Lys | |
| NM_001142571.1:c.610G>A | NP_001136043.1:p.Glu204Lys | |
| NM_002878.3:c.550G>A , LRG_516t1:c.550G>A | NP_002869.3:p.Glu184Lys | |
| NM_133629.2:c.214G>A | NP_598332.1:p.Glu72Lys | |
| NR_037711.1:n.687G>A | ||
| NR_037712.1:n.552G>A | ||
| NR_037714.1:n.302G>A | ||
| NM_001142571.2:c.610G>A | NP_001136043.1:p.Glu204Lys | |
| NM_133629.3:c.214G>A | NP_598332.1:p.Glu72Lys | |
| NR_037711.2:n.576G>A | ||
| NR_037712.2:n.441G>A | ||
| NM_002878.4:c.550G>A MANE Select | NP_002869.3:p.Glu184Lys |