Linked Data
ClinVar Variation Id:
452273
dbSNP Id:
rs573939509
ExAC:
11:1782632 G / C
gnomAD v2:
11-1782632-G-C
gnomAD v3:
11-1761402-G-C
gnomAD v4:
11-1761402-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1761402G>C , CM000673.2:g.1761402G>C | GRCh38 |
| NC_000011.9:g.1782632G>C , CM000673.1:g.1782632G>C | GRCh37 |
| NC_000011.8:g.1739208G>C | NCBI36 |
| NG_008655.1:g.7591C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.135C>G MANE Select | ENSP00000236671.2:p.Asp45Glu | |
| ENST00000367196.4:c.30C>G | ENSP00000356164.4:p.Asp10Glu | |
| ENST00000429746.2:c.30C>G | ENSP00000402586.2:p.Asp10Glu | |
| ENST00000433655.6:c.135C>G | ENSP00000404902.1:p.Asp45Glu | |
| ENST00000438213.6:c.135C>G | ENSP00000415036.2:p.Asp45Glu | |
| ENST00000636397.1:c.135C>G | ENSP00000489910.1:p.Asp45Glu | |
| ENST00000636571.1:c.135C>G | ENSP00000490770.1:p.Asp45Glu | |
| ENST00000636615.1:c.135C>G | ENSP00000490014.1:p.Asp45Glu | |
| ENST00000636843.1:c.135C>G | ENSP00000490897.1:p.Asp45Glu | |
| ENST00000637381.2:n.2563C>G | ||
| ENST00000637387.1:c.135C>G | ENSP00000490598.1:p.Asp45Glu | |
| ENST00000637815.2:c.135C>G | ENSP00000490344.1:p.Asp45Glu | |
| ENST00000637915.1:c.135C>G | ENSP00000490471.1:p.Asp45Glu | |
| ENST00000678991.1:c.278C>G | ENSP00000503019.1:p.Thr93Ser | |
| ENST00000236671.6:c.135C>G | ENSP00000236671.2:p.Asp45Glu | |
| ENST00000367196.3:c.30C>G | ENSP00000356164.3:p.Asp10Glu | |
| ENST00000433655.5:c.135C>G | ENSP00000404902.1:p.Asp45Glu | |
| ENST00000438213.5:c.90C>G | ENSP00000415036.1:p.Asp30Glu | |
| NM_001909.4:c.135C>G | NP_001900.1:p.Asp45Glu | |
| NM_001909.5:c.135C>G MANE Select | NP_001900.1:p.Asp45Glu |