Linked Data
ClinVar Variation Id:
215087
dbSNP Id:
rs189652973
ExAC:
2:86444173 C / T
gnomAD v2:
2-86444173-C-T
gnomAD v3:
2-86217050-C-T
gnomAD v4:
2-86217050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86217050C>T , CM000664.2:g.86217050C>T | GRCh38 |
| NC_000002.11:g.86444173C>T , CM000664.1:g.86444173C>T | GRCh37 |
| NC_000002.10:g.86297684C>T | NCBI36 |
| NG_013037.1:g.126034G>A , LRG_713:g.126034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.808G>A | ENSP00000495610.2:p.Glu270Lys | |
| ENST00000686220.1:c.*104G>A | ENSP00000509904.1:n.*104G>A | |
| ENST00000687696.1:n.186G>A | ||
| ENST00000687927.1:n.1122G>A | ||
| ENST00000688400.1:c.344G>A | ENSP00000510490.1:n.344G>A | |
| ENST00000689156.1:c.478G>A | ENSP00000509143.1:p.Glu160Lys | |
| ENST00000691093.1:c.*50G>A | ENSP00000509465.1:n.*50G>A | |
| ENST00000691703.1:c.*50G>A | ENSP00000508496.1:n.*50G>A | |
| ENST00000692664.1:c.*50G>A | ENSP00000508656.1:n.*50G>A | |
| ENST00000693329.1:c.*130G>A | ENSP00000508490.1:n.*130G>A | |
| ENST00000453231.6:c.*50G>A | ENSP00000392197.2:n.*50G>A | |
| ENST00000535845.6:c.*50G>A | ENSP00000437567.1:n.*50G>A | |
| ENST00000538924.7:c.844G>A MANE Select | ENSP00000438346.3:p.Glu282Lys | |
| ENST00000541910.6:c.421G>A | ENSP00000442681.1:p.Glu141Lys | |
| ENST00000642243.1:c.952G>A | ENSP00000494960.1:p.Glu318Lys | |
| ENST00000643817.1:c.766G>A | ENSP00000495610.1:p.Glu256Lys | |
| ENST00000644644.1:c.853G>A | ENSP00000494305.1:p.Glu285Lys | |
| ENST00000646181.1:n.529G>A | ||
| ENST00000165698.9:c.*50G>A | ENSP00000165698.5:n.*50G>A | |
| ENST00000535845.5:c.*50G>A | ENSP00000437567.1:n.*50G>A | |
| ENST00000538924.5:c.*50G>A | ENSP00000438346.1:n.*50G>A | |
| ENST00000541910.5:c.421G>A | ENSP00000442681.1:p.Glu141Lys | |
| NM_001164730.1:c.*50G>A , LRG_713t1:c.*50G>A | NP_001158202.1:n.*50G>A | |
| NM_001164731.1:c.*50G>A | NP_001158203.1:n.*50G>A | |
| NM_001164732.1:c.421G>A | NP_001158204.1:p.Glu141Lys | |
| NM_022912.2:c.*50G>A , LRG_713t2:c.*50G>A | NP_075063.1:n.*50G>A | |
| XM_005264502.1:c.844G>A | XP_005264559.1:p.Glu282Lys | |
| XM_005264504.1:c.730G>A | XP_005264561.1:p.Glu244Lys | |
| XM_011533043.1:c.829G>A | XP_011531345.1:p.Glu277Lys | |
| XM_011533044.1:c.826G>A | XP_011531346.1:p.Glu276Lys | |
| XM_011533045.1:c.820G>A | XP_011531347.1:p.Glu274Lys | |
| XM_011533046.1:c.*50G>A | XP_011531348.1:n.*50G>A | |
| XM_005264502.2:c.844G>A | XP_005264559.1:p.Glu282Lys | |
| XM_011533045.2:c.820G>A | XP_011531347.1:p.Glu274Lys | |
| XM_017004725.1:c.829G>A | XP_016860214.1:p.Glu277Lys | |
| XM_017004726.1:c.*50G>A | XP_016860215.1:n.*50G>A | |
| XM_017004727.1:c.*50G>A | XP_016860216.1:n.*50G>A | |
| NM_001164730.2:c.*50G>A | NP_001158202.1:n.*50G>A | |
| NM_001164731.2:c.*50G>A | NP_001158203.1:n.*50G>A | |
| NM_001164732.2:c.421G>A | NP_001158204.1:p.Glu141Lys | |
| NM_001371279.1:c.844G>A MANE Select | NP_001358208.1:p.Glu282Lys | |
| NM_001371280.1:c.478G>A | NP_001358209.1:p.Glu160Lys | |
| NM_022912.3:c.*50G>A | NP_075063.1:n.*50G>A |