Linked Data
ClinVar Variation Id:
380348
dbSNP Id:
rs373854674
ExAC:
2:86459860 T / C
gnomAD v2:
2-86459860-T-C
gnomAD v3:
2-86232737-T-C
gnomAD v4:
2-86232737-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86232737T>C , CM000664.2:g.86232737T>C | GRCh38 |
| NC_000002.11:g.86459860T>C , CM000664.1:g.86459860T>C | GRCh37 |
| NC_000002.10:g.86313371T>C | NCBI36 |
| NG_013037.1:g.110347A>G , LRG_713:g.110347A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.483A>G | ENSP00000495610.2:p.Gly161= | |
| ENST00000686220.1:c.402A>G | ENSP00000509904.1:p.Gly134= | |
| ENST00000688400.1:c.171A>G | ENSP00000510490.1:p.Gly57= | |
| ENST00000689156.1:c.418-15627A>G | ENSP00000509143.1:n.418-15627A>G | |
| ENST00000691093.1:c.303A>G | ENSP00000509465.1:p.Gly101= | |
| ENST00000691703.1:c.483A>G | ENSP00000508496.1:p.Gly161= | |
| ENST00000692664.1:c.333A>G | ENSP00000508656.1:p.Gly111= | |
| ENST00000693329.1:c.483A>G | ENSP00000508490.1:p.Gly161= | |
| ENST00000453231.6:c.504A>G | ENSP00000392197.2:p.Gly168= | |
| ENST00000535845.6:c.402A>G | ENSP00000437567.1:p.Gly134= | |
| ENST00000538924.7:c.483A>G MANE Select | ENSP00000438346.3:p.Gly161= | |
| ENST00000541910.6:c.248A>G | ENSP00000442681.1:p.Glu83Gly | |
| ENST00000642243.1:c.591A>G | ENSP00000494960.1:p.Gly197= | |
| ENST00000643817.1:c.441A>G | ENSP00000495610.1:p.Gly147= | |
| ENST00000644644.1:c.492A>G | ENSP00000494305.1:p.Gly164= | |
| ENST00000165698.9:c.483A>G | ENSP00000165698.5:p.Gly161= | |
| ENST00000428491.5:c.402A>G | ENSP00000400607.1:p.Gly134= | |
| ENST00000437769.5:c.248A>G | ENSP00000401140.1:p.Glu83Gly | |
| ENST00000453231.5:c.504A>G | ENSP00000392197.1:p.Gly168= | |
| ENST00000473407.5:n.573A>G | ||
| ENST00000490915.5:n.505A>G | ||
| ENST00000535845.5:c.402A>G | ENSP00000437567.1:p.Gly134= | |
| ENST00000538924.5:c.504A>G | ENSP00000438346.1:p.Gly168= | |
| ENST00000541910.5:c.248A>G | ENSP00000442681.1:p.Glu83Gly | |
| NM_001164730.1:c.504A>G , LRG_713t1:c.504A>G | NP_001158202.1:p.Gly168= | |
| NM_001164731.1:c.402A>G | NP_001158203.1:p.Gly134= | |
| NM_001164732.1:c.248A>G | NP_001158204.1:p.Glu83Gly | |
| NM_022912.2:c.483A>G , LRG_713t2:c.483A>G | NP_075063.1:p.Gly161= | |
| XM_005264502.1:c.483A>G | XP_005264559.1:p.Gly161= | |
| XM_005264504.1:c.369A>G | XP_005264561.1:p.Gly123= | |
| XM_011533043.1:c.504A>G | XP_011531345.1:p.Gly168= | |
| XM_011533044.1:c.465A>G | XP_011531346.1:p.Gly155= | |
| XM_011533045.1:c.459A>G | XP_011531347.1:p.Gly153= | |
| XM_011533046.1:c.504A>G | XP_011531348.1:p.Gly168= | |
| XM_005264502.2:c.483A>G | XP_005264559.1:p.Gly161= | |
| XM_011533045.2:c.459A>G | XP_011531347.1:p.Gly153= | |
| XM_017004725.1:c.504A>G | XP_016860214.1:p.Gly168= | |
| XM_017004726.1:c.504A>G | XP_016860215.1:p.Gly168= | |
| XM_017004727.1:c.504A>G | XP_016860216.1:p.Gly168= | |
| NM_001164730.2:c.504A>G | NP_001158202.1:p.Gly168= | |
| NM_001164731.2:c.402A>G | NP_001158203.1:p.Gly134= | |
| NM_001164732.2:c.248A>G | NP_001158204.1:p.Glu83Gly | |
| NM_001371279.1:c.483A>G MANE Select | NP_001358208.1:p.Gly161= | |
| NM_001371280.1:c.418-15627A>G | NP_001358209.1:n.418-15627A>G | |
| NM_022912.3:c.483A>G | NP_075063.1:p.Gly161= |