Linked Data
ClinVar Variation Id:
391672
ClinVar RCV Id:
RCV000435912
dbSNP Id:
rs760434437
ExAC:
2:86491072 C / A
gnomAD v2:
2-86491072-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86263949C>A , CM000664.2:g.86263949C>A | GRCh38 |
| NC_000002.11:g.86491072C>A , CM000664.1:g.86491072C>A | GRCh37 |
| NC_000002.10:g.86344583C>A | NCBI36 |
| NG_013037.1:g.79135G>T , LRG_713:g.79135G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.182+16G>T | ENSP00000495610.2:n.182+16G>T | |
| ENST00000686220.1:c.101+16G>T | ENSP00000509904.1:n.101+16G>T | |
| ENST00000688400.1:c.105+18221G>T | ENSP00000510490.1:n.105+18221G>T | |
| ENST00000689156.1:c.182+16G>T | ENSP00000509143.1:n.182+16G>T | |
| ENST00000691093.1:c.3-9135G>T | ENSP00000509465.1:n.3-9135G>T | |
| ENST00000691703.1:c.182+16G>T | ENSP00000508496.1:n.182+16G>T | |
| ENST00000692664.1:c.33-9135G>T | ENSP00000508656.1:n.33-9135G>T | |
| ENST00000693329.1:c.182+16G>T | ENSP00000508490.1:n.182+16G>T | |
| ENST00000453231.6:c.203+16G>T | ENSP00000392197.2:n.203+16G>T | |
| ENST00000535845.6:c.101+16G>T | ENSP00000437567.1:n.101+16G>T | |
| ENST00000538924.7:c.182+16G>T MANE Select | ENSP00000438346.3:n.182+16G>T | |
| ENST00000541910.6:c.182+16G>T | ENSP00000442681.1:n.182+16G>T | |
| ENST00000642243.1:c.140+16G>T | ENSP00000494960.1:n.140+16G>T | |
| ENST00000643817.1:c.140+16G>T | ENSP00000495610.1:n.140+16G>T | |
| ENST00000644644.1:c.140+16G>T | ENSP00000494305.1:n.140+16G>T | |
| ENST00000165698.9:c.182+16G>T | ENSP00000165698.5:n.182+16G>T | |
| ENST00000428491.5:c.101+16G>T | ENSP00000400607.1:n.101+16G>T | |
| ENST00000437769.5:c.182+16G>T | ENSP00000401140.1:n.182+16G>T | |
| ENST00000453231.5:c.203+16G>T | ENSP00000392197.1:n.203+16G>T | |
| ENST00000473407.5:n.272+16G>T | ||
| ENST00000489855.2:c.118+16G>T | ||
| ENST00000535845.5:c.101+16G>T | ENSP00000437567.1:n.101+16G>T | |
| ENST00000538924.5:c.203+16G>T | ENSP00000438346.1:n.203+16G>T | |
| ENST00000541910.5:c.182+16G>T | ENSP00000442681.1:n.182+16G>T | |
| NM_001164730.1:c.203+16G>T , LRG_713t1:c.203+16G>T | NP_001158202.1:n.203+16G>T | |
| NM_001164731.1:c.101+16G>T | NP_001158203.1:n.101+16G>T | |
| NM_001164732.1:c.182+16G>T | NP_001158204.1:n.182+16G>T | |
| NM_022912.2:c.182+16G>T , LRG_713t2:c.182+16G>T | NP_075063.1:n.182+16G>T | |
| XM_005264502.1:c.182+16G>T | XP_005264559.1:n.182+16G>T | |
| XM_005264504.1:c.68+16G>T | XP_005264561.1:n.68+16G>T | |
| XM_011533043.1:c.203+16G>T | XP_011531345.1:n.203+16G>T | |
| XM_011533044.1:c.164+16G>T | XP_011531346.1:n.164+16G>T | |
| XM_011533045.1:c.158+16G>T | XP_011531347.1:n.158+16G>T | |
| XM_011533046.1:c.203+16G>T | XP_011531348.1:n.203+16G>T | |
| XM_005264502.2:c.182+16G>T | XP_005264559.1:n.182+16G>T | |
| XM_011533045.2:c.158+16G>T | XP_011531347.1:n.158+16G>T | |
| XM_017004725.1:c.203+16G>T | XP_016860214.1:n.203+16G>T | |
| XM_017004726.1:c.203+16G>T | XP_016860215.1:n.203+16G>T | |
| XM_017004727.1:c.203+16G>T | XP_016860216.1:n.203+16G>T | |
| NM_001164730.2:c.203+16G>T | NP_001158202.1:n.203+16G>T | |
| NM_001164731.2:c.101+16G>T | NP_001158203.1:n.101+16G>T | |
| NM_001164732.2:c.182+16G>T | NP_001158204.1:n.182+16G>T | |
| NM_001371279.1:c.182+16G>T MANE Select | NP_001358208.1:n.182+16G>T | |
| NM_001371280.1:c.182+16G>T | NP_001358209.1:n.182+16G>T | |
| NM_022912.3:c.182+16G>T | NP_075063.1:n.182+16G>T |