Linked Data
ClinVar Variation Id:
507906
dbSNP Id:
rs548141046
ExAC:
2:86459938 C / T
gnomAD v2:
2-86459938-C-T
gnomAD v3:
2-86232815-C-T
gnomAD v4:
2-86232815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86232815C>T , CM000664.2:g.86232815C>T | GRCh38 |
| NC_000002.11:g.86459938C>T , CM000664.1:g.86459938C>T | GRCh37 |
| NC_000002.10:g.86313449C>T | NCBI36 |
| NG_013037.1:g.110269G>A , LRG_713:g.110269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.418-13G>A | ENSP00000495610.2:n.418-13G>A | |
| ENST00000686220.1:c.337-13G>A | ENSP00000509904.1:n.337-13G>A | |
| ENST00000688400.1:c.106-13G>A | ENSP00000510490.1:n.106-13G>A | |
| ENST00000689156.1:c.418-15705G>A | ENSP00000509143.1:n.418-15705G>A | |
| ENST00000691093.1:c.238-13G>A | ENSP00000509465.1:n.238-13G>A | |
| ENST00000691703.1:c.418-13G>A | ENSP00000508496.1:n.418-13G>A | |
| ENST00000692664.1:c.268-13G>A | ENSP00000508656.1:n.268-13G>A | |
| ENST00000693329.1:c.418-13G>A | ENSP00000508490.1:n.418-13G>A | |
| ENST00000453231.6:c.439-13G>A | ENSP00000392197.2:n.439-13G>A | |
| ENST00000535845.6:c.337-13G>A | ENSP00000437567.1:n.337-13G>A | |
| ENST00000538924.7:c.418-13G>A MANE Select | ENSP00000438346.3:n.418-13G>A | |
| ENST00000541910.6:c.183-13G>A | ENSP00000442681.1:n.183-13G>A | |
| ENST00000642243.1:c.526-13G>A | ENSP00000494960.1:n.526-13G>A | |
| ENST00000643817.1:c.376-13G>A | ENSP00000495610.1:n.376-13G>A | |
| ENST00000644644.1:c.427-13G>A | ENSP00000494305.1:n.427-13G>A | |
| ENST00000165698.9:c.418-13G>A | ENSP00000165698.5:n.418-13G>A | |
| ENST00000428491.5:c.337-13G>A | ENSP00000400607.1:n.337-13G>A | |
| ENST00000437769.5:c.183-13G>A | ENSP00000401140.1:n.183-13G>A | |
| ENST00000453231.5:c.439-13G>A | ENSP00000392197.1:n.439-13G>A | |
| ENST00000473407.5:n.508-13G>A | ||
| ENST00000490915.5:n.440-13G>A | ||
| ENST00000535845.5:c.337-13G>A | ENSP00000437567.1:n.337-13G>A | |
| ENST00000538924.5:c.439-13G>A | ENSP00000438346.1:n.439-13G>A | |
| ENST00000541910.5:c.183-13G>A | ENSP00000442681.1:n.183-13G>A | |
| NM_001164730.1:c.439-13G>A , LRG_713t1:c.439-13G>A | NP_001158202.1:n.439-13G>A | |
| NM_001164731.1:c.337-13G>A | NP_001158203.1:n.337-13G>A | |
| NM_001164732.1:c.183-13G>A | NP_001158204.1:n.183-13G>A | |
| NM_022912.2:c.418-13G>A , LRG_713t2:c.418-13G>A | NP_075063.1:n.418-13G>A | |
| XM_005264502.1:c.418-13G>A | XP_005264559.1:n.418-13G>A | |
| XM_005264504.1:c.304-13G>A | XP_005264561.1:n.304-13G>A | |
| XM_011533043.1:c.439-13G>A | XP_011531345.1:n.439-13G>A | |
| XM_011533044.1:c.400-13G>A | XP_011531346.1:n.400-13G>A | |
| XM_011533045.1:c.394-13G>A | XP_011531347.1:n.394-13G>A | |
| XM_011533046.1:c.439-13G>A | XP_011531348.1:n.439-13G>A | |
| XM_005264502.2:c.418-13G>A | XP_005264559.1:n.418-13G>A | |
| XM_011533045.2:c.394-13G>A | XP_011531347.1:n.394-13G>A | |
| XM_017004725.1:c.439-13G>A | XP_016860214.1:n.439-13G>A | |
| XM_017004726.1:c.439-13G>A | XP_016860215.1:n.439-13G>A | |
| XM_017004727.1:c.439-13G>A | XP_016860216.1:n.439-13G>A | |
| NM_001164730.2:c.439-13G>A | NP_001158202.1:n.439-13G>A | |
| NM_001164731.2:c.337-13G>A | NP_001158203.1:n.337-13G>A | |
| NM_001164732.2:c.183-13G>A | NP_001158204.1:n.183-13G>A | |
| NM_001371279.1:c.418-13G>A MANE Select | NP_001358208.1:n.418-13G>A | |
| NM_001371280.1:c.418-15705G>A | NP_001358209.1:n.418-15705G>A | |
| NM_022912.3:c.418-13G>A | NP_075063.1:n.418-13G>A |