Linked Data
dbSNP Id:
rs554062876
ExAC:
11:1774750 C / G
gnomAD v2:
11-1774750-C-G
gnomAD v3:
11-1753520-C-G
gnomAD v4:
11-1753520-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753520C>G , CM000673.2:g.1753520C>G | GRCh38 |
| NC_000011.9:g.1774750C>G , CM000673.1:g.1774750C>G | GRCh37 |
| NC_000011.8:g.1731326C>G | NCBI36 |
| NG_008655.1:g.15473G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1222G>C MANE Select | ENSP00000236671.2:p.Glu408Gln | |
| ENST00000367196.4:c.1117G>C | ENSP00000356164.4:p.Glu373Gln | |
| ENST00000427721.3:c.634+13G>C | ||
| ENST00000429746.2:c.1117G>C | ENSP00000402586.2:p.Glu373Gln | |
| ENST00000433655.6:c.*388G>C | ENSP00000404902.1:n.*388G>C | |
| ENST00000438213.6:c.1339G>C | ENSP00000415036.2:p.Glu447Gln | |
| ENST00000636397.1:c.1071+283G>C | ENSP00000489910.1:n.1071+283G>C | |
| ENST00000636571.1:c.1201G>C | ENSP00000490770.1:p.Glu401Gln | |
| ENST00000636579.1:c.72+283G>C | ENSP00000490489.1:n.72+283G>C | |
| ENST00000636615.1:c.1071+283G>C | ENSP00000490014.1:n.1071+283G>C | |
| ENST00000636843.1:c.1216G>C | ENSP00000490897.1:p.Glu406Gln | |
| ENST00000637158.1:n.820G>C | ||
| ENST00000637381.2:n.3650G>C | ||
| ENST00000637387.1:c.1201G>C | ENSP00000490598.1:p.Glu401Gln | |
| ENST00000637815.2:c.1204G>C | ENSP00000490344.1:p.Glu402Gln | |
| ENST00000637915.1:c.1213G>C | ENSP00000490471.1:p.Glu405Gln | |
| ENST00000637937.1:n.530G>C | ||
| ENST00000678991.1:c.*1083G>C | ENSP00000503019.1:n.*1083G>C | |
| ENST00000236671.6:c.1222G>C | ENSP00000236671.2:p.Glu408Gln | |
| ENST00000427721.2:c.471+283G>C | ENSP00000415840.2:n.471+283G>C | |
| ENST00000429746.1:c.553G>C | ENSP00000402586.1:p.Glu185Gln | |
| ENST00000433655.5:c.*388G>C | ENSP00000404902.1:n.*388G>C | |
| NM_001909.4:c.1222G>C | NP_001900.1:p.Glu408Gln | |
| NM_001909.5:c.1222G>C MANE Select | NP_001900.1:p.Glu408Gln |