Linked Data
ClinVar Variation Id:
417683
dbSNP Id:
rs1060505019
gnomAD v3:
1-39847620-T-C
gnomAD v4:
1-39847620-T-C
PubMed:
PMID:28185376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847620T>C , CM000663.2:g.39847620T>C | GRCh38 |
| NC_000001.10:g.40313292T>C , CM000663.1:g.40313292T>C | GRCh37 |
| NC_000001.9:g.40085879T>C | NCBI36 |
| NG_042822.1:g.40892A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316891.10:c.856A>G MANE Select | ENSP00000321810.5:p.Lys286Glu | |
| ENST00000648678.1:c.1748A>G | ENSP00000497805.1:n.1748A>G | |
| ENST00000316891.9:c.856A>G | ENSP00000321810.5:p.Lys286Glu | |
| ENST00000372818.5:c.856A>G | ENSP00000361905.1:p.Lys286Glu | |
| ENST00000441669.6:c.610A>G | ENSP00000388333.2:p.Lys204Glu | |
| ENST00000462797.5:c.856A>G | ENSP00000473773.1:p.Lys286Glu | |
| ENST00000465417.5:n.113-323A>G | ||
| ENST00000467774.1:n.138A>G | ||
| ENST00000469476.2:c.747A>G | ENSP00000474768.1:n.747A>G | |
| ENST00000486825.6:c.761A>G | ||
| ENST00000489945.5:c.*274A>G | ENSP00000473745.1:n.*274A>G | |
| ENST00000491865.5:n.164-323A>G | ||
| ENST00000492612.6:c.700A>G | ||
| ENST00000495175.6:c.*278A>G | ENSP00000474264.1:n.*278A>G | |
| ENST00000537440.5:c.17-323A>G | ENSP00000437700.1:n.17-323A>G | |
| ENST00000541099.5:c.-140-2980A>G | ENSP00000437896.1:n.-140-2980A>G | |
| NM_001312691.1:c.856A>G | NP_001299620.1:p.Lys286Glu | |
| NM_001312692.1:c.610A>G | NP_001299621.1:p.Lys204Glu | |
| NM_017646.4:c.856A>G | NP_060116.2:p.Lys286Glu | |
| NM_017646.5:c.856A>G | NP_060116.2:p.Lys286Glu | |
| NR_132401.1:n.872A>G | ||
| NR_132402.1:n.730A>G | ||
| NR_132403.1:n.726A>G | ||
| NR_132404.1:n.726A>G | ||
| NR_132405.1:n.722A>G | ||
| NR_132406.1:n.686-323A>G | ||
| NR_132407.1:n.490A>G | ||
| NR_132408.1:n.486A>G | ||
| NR_132409.1:n.347A>G | ||
| NR_132410.1:n.446-323A>G | ||
| NR_132412.1:n.307-323A>G | ||
| NR_132413.1:n.195-2980A>G | ||
| NR_132414.1:n.195-5707A>G | ||
| NR_132415.1:n.963A>G | ||
| XM_005270954.1:c.613A>G | XP_005271011.1:p.Lys205Glu | |
| XM_006710706.1:c.433A>G | XP_006710769.1:p.Lys145Glu | |
| XR_946672.1:n.959A>G | ||
| XM_005270954.2:c.613A>G | XP_005271011.1:p.Lys205Glu | |
| XR_946672.2:n.956A>G | ||
| NM_017646.6:c.856A>G MANE Select | NP_060116.2:p.Lys286Glu |