Linked Data
dbSNP Id:
rs781896985
ExAC:
17:79478127 T / C
gnomAD v2:
17-79478127-T-C
gnomAD v3:
17-81511101-T-C
gnomAD v4:
17-81511101-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81511101T>C , CM000679.2:g.81511101T>C | GRCh38 |
| NC_000017.10:g.79478127T>C , CM000679.1:g.79478127T>C | GRCh37 |
| NC_000017.9:g.77092722T>C | NCBI36 |
| NG_011433.1:g.6701A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570382.2:c.810A>G | ENSP00000466346.2:p.Glu270= | |
| ENST00000571691.6:c.738A>G | ENSP00000461407.2:p.Glu246= | |
| ENST00000571721.6:c.810A>G | ENSP00000460660.2:p.Glu270= | |
| ENST00000572105.7:c.*254A>G | ENSP00000462823.1:n.*254A>G | |
| ENST00000573283.7:c.810A>G MANE Select | ENSP00000458435.1:p.Glu270= | |
| ENST00000574671.6:n.1210A>G | ||
| ENST00000575659.6:c.810A>G | ENSP00000459119.2:p.Glu270= | |
| ENST00000575994.6:c.810A>G | ENSP00000460464.2:p.Glu270= | |
| ENST00000576214.3:n.1111A>G | ||
| ENST00000576544.6:c.810A>G | ENSP00000461672.1:p.Glu270= | |
| ENST00000615544.5:c.810A>G | ENSP00000477968.1:p.Glu270= | |
| ENST00000644774.2:c.783A>G | ENSP00000493648.2:p.Glu261= | |
| ENST00000679410.1:n.1013A>G | ||
| ENST00000679480.1:c.810A>G | ENSP00000506201.1:p.Glu270= | |
| ENST00000679535.1:n.1111A>G | ||
| ENST00000679778.1:c.810A>G | ENSP00000505235.1:p.Glu270= | |
| ENST00000680227.1:c.810A>G | ENSP00000506253.1:p.Glu270= | |
| ENST00000680727.1:c.810A>G | ENSP00000505193.1:p.Glu270= | |
| ENST00000681052.1:c.810A>G | ENSP00000505060.1:p.Glu270= | |
| ENST00000681092.1:c.*614A>G | ENSP00000506720.1:n.*614A>G | |
| ENST00000681842.1:c.810A>G | ENSP00000506126.1:p.Glu270= | |
| ENST00000331925.6:c.810A>G | ENSP00000331514.2:p.Glu270= | |
| ENST00000572105.6:c.*254A>G | ENSP00000462823.1:n.*254A>G | |
| ENST00000573283.5:c.810A>G | ENSP00000458435.1:p.Glu270= | |
| ENST00000574671.5:n.669A>G | ||
| ENST00000575087.5:c.810A>G | ENSP00000459124.1:p.Glu270= | |
| ENST00000575842.5:c.810A>G | ENSP00000458162.1:p.Glu270= | |
| ENST00000576209.5:n.695A>G | ||
| ENST00000576214.2:n.1008A>G | ||
| ENST00000576544.5:c.810A>G | ENSP00000461672.1:p.Glu270= | |
| ENST00000576917.5:n.942A>G | ||
| ENST00000615544.4:c.810A>G | ENSP00000477968.1:p.Glu270= | |
| NM_001199954.1:c.810A>G | NP_001186883.1:p.Glu270= | |
| NM_001614.3:c.810A>G | NP_001605.1:p.Glu270= | |
| NR_037688.1:n.949A>G | ||
| NM_001199954.2:c.810A>G | NP_001186883.1:p.Glu270= | |
| NM_001614.4:c.810A>G | NP_001605.1:p.Glu270= | |
| NR_037688.2:n.882A>G | ||
| NM_001614.5:c.810A>G MANE Select | NP_001605.1:p.Glu270= | |
| NR_037688.3:n.882A>G | ||
| NM_001199954.3:c.810A>G | NP_001186883.1:p.Glu270= |