Linked Data
ClinVar Variation Id:
216736
dbSNP Id:
rs377712421
ExAC:
2:86479101 C / T
gnomAD v2:
2-86479101-C-T
gnomAD v3:
2-86251978-C-T
gnomAD v4:
2-86251978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86251978C>T , CM000664.2:g.86251978C>T | GRCh38 |
| NC_000002.11:g.86479101C>T , CM000664.1:g.86479101C>T | GRCh37 |
| NC_000002.10:g.86332612C>T | NCBI36 |
| NG_013037.1:g.91106G>A , LRG_713:g.91106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.396G>A | ENSP00000495610.2:p.Ala132= | |
| ENST00000686220.1:c.315G>A | ENSP00000509904.1:p.Ala105= | |
| ENST00000688400.1:c.106-19176G>A | ENSP00000510490.1:n.106-19176G>A | |
| ENST00000689156.1:c.396G>A | ENSP00000509143.1:p.Ala132= | |
| ENST00000691093.1:c.216G>A | ENSP00000509465.1:p.Ala72= | |
| ENST00000691703.1:c.396G>A | ENSP00000508496.1:p.Ala132= | |
| ENST00000692664.1:c.246G>A | ENSP00000508656.1:p.Ala82= | |
| ENST00000693329.1:c.396G>A | ENSP00000508490.1:p.Ala132= | |
| ENST00000453231.6:c.417G>A | ENSP00000392197.2:p.Ala139= | |
| ENST00000535845.6:c.315G>A | ENSP00000437567.1:p.Ala105= | |
| ENST00000538924.7:c.396G>A MANE Select | ENSP00000438346.3:p.Ala132= | |
| ENST00000541910.6:c.182+11987G>A | ENSP00000442681.1:n.182+11987G>A | |
| ENST00000642243.1:c.354G>A | ENSP00000494960.1:p.Ala118= | |
| ENST00000643817.1:c.354G>A | ENSP00000495610.1:p.Ala118= | |
| ENST00000644644.1:c.354G>A | ENSP00000494305.1:p.Ala118= | |
| ENST00000165698.9:c.396G>A | ENSP00000165698.5:p.Ala132= | |
| ENST00000428491.5:c.315G>A | ENSP00000400607.1:p.Ala105= | |
| ENST00000437769.5:c.182+11987G>A | ENSP00000401140.1:n.182+11987G>A | |
| ENST00000453231.5:c.417G>A | ENSP00000392197.1:p.Ala139= | |
| ENST00000473407.5:n.486G>A | ||
| ENST00000489855.2:c.332G>A | ||
| ENST00000490915.5:n.418G>A | ||
| ENST00000535845.5:c.315G>A | ENSP00000437567.1:p.Ala105= | |
| ENST00000538924.5:c.417G>A | ENSP00000438346.1:p.Ala139= | |
| ENST00000541910.5:c.182+11987G>A | ENSP00000442681.1:n.182+11987G>A | |
| NM_001164730.1:c.417G>A , LRG_713t1:c.417G>A | NP_001158202.1:p.Ala139= | |
| NM_001164731.1:c.315G>A | NP_001158203.1:p.Ala105= | |
| NM_001164732.1:c.182+11987G>A | NP_001158204.1:n.182+11987G>A | |
| NM_022912.2:c.396G>A , LRG_713t2:c.396G>A | NP_075063.1:p.Ala132= | |
| XM_005264502.1:c.396G>A | XP_005264559.1:p.Ala132= | |
| XM_005264504.1:c.282G>A | XP_005264561.1:p.Ala94= | |
| XM_011533043.1:c.417G>A | XP_011531345.1:p.Ala139= | |
| XM_011533044.1:c.378G>A | XP_011531346.1:p.Ala126= | |
| XM_011533045.1:c.372G>A | XP_011531347.1:p.Ala124= | |
| XM_011533046.1:c.417G>A | XP_011531348.1:p.Ala139= | |
| XM_005264502.2:c.396G>A | XP_005264559.1:p.Ala132= | |
| XM_011533045.2:c.372G>A | XP_011531347.1:p.Ala124= | |
| XM_017004725.1:c.417G>A | XP_016860214.1:p.Ala139= | |
| XM_017004726.1:c.417G>A | XP_016860215.1:p.Ala139= | |
| XM_017004727.1:c.417G>A | XP_016860216.1:p.Ala139= | |
| NM_001164730.2:c.417G>A | NP_001158202.1:p.Ala139= | |
| NM_001164731.2:c.315G>A | NP_001158203.1:p.Ala105= | |
| NM_001164732.2:c.182+11987G>A | NP_001158204.1:n.182+11987G>A | |
| NM_001371279.1:c.396G>A MANE Select | NP_001358208.1:p.Ala132= | |
| NM_001371280.1:c.396G>A | NP_001358209.1:p.Ala132= | |
| NM_022912.3:c.396G>A | NP_075063.1:p.Ala132= |