Linked Data
ClinVar Variation Id:
139404
dbSNP Id:
rs370160994
ExAC:
18:53017635 T / C
gnomAD v2:
18-53017635-T-C
gnomAD v3:
18-55350404-T-C
gnomAD v4:
18-55350404-T-C
ERepo:
CA293878/MONDO:0012589/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55350404T>C , CM000680.2:g.55350404T>C | GRCh38 |
| NC_000018.9:g.53017635T>C , CM000680.1:g.53017635T>C | GRCh37 |
| NC_000018.8:g.51168633T>C | NCBI36 |
| NG_011716.1:g.243226A>G | |
| NG_011716.2:g.290590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.504A>G MANE Select | ENSP00000346440.3:p.Val168= | |
| ENST00000635822.2:c.504A>G | ENSP00000490451.1:p.Val168= | |
| ENST00000635990.2:n.184A>G | ||
| ENST00000636400.2:c.432A>G | ENSP00000490006.1:p.Val144= | |
| ENST00000636751.2:c.*212A>G | ENSP00000489783.1:n.*212A>G | |
| ENST00000636822.2:c.114A>G | ENSP00000490883.1:p.Val38= | |
| ENST00000637115.2:c.*394A>G | ENSP00000490234.1:n.*394A>G | |
| ENST00000637239.2:n.571A>G | ||
| ENST00000637250.2:n.198A>G | ||
| ENST00000638154.3:c.534A>G | ENSP00000490625.2:p.Val178= | |
| ENST00000643689.1:c.114A>G | ENSP00000494380.1:p.Val38= | |
| ENST00000674764.1:c.*115A>G | ENSP00000502213.1:n.*115A>G | |
| ENST00000675707.1:c.114A>G | ENSP00000501758.1:p.Val38= | |
| ENST00000354452.7:c.504A>G | ENSP00000346440.3:p.Val168= | |
| ENST00000356073.8:c.504A>G | ENSP00000348374.4:p.Val168= | |
| ENST00000398339.5:c.810A>G | ENSP00000381382.1:p.Val270= | |
| ENST00000537578.5:c.432A>G | ENSP00000440731.1:p.Val144= | |
| ENST00000537856.7:c.114A>G | ENSP00000439827.2:p.Val38= | |
| ENST00000540999.5:c.432A>G | ENSP00000445202.1:p.Val144= | |
| ENST00000543082.5:c.378A>G | ENSP00000439656.1:p.Val126= | |
| ENST00000544241.6:c.291A>G | ENSP00000441562.2:p.Val97= | |
| ENST00000561992.5:c.114A>G | ENSP00000455179.1:p.Val38= | |
| ENST00000562030.3:c.114A>G | ENSP00000456220.2:p.Val38= | |
| ENST00000562607.5:c.114A>G | ENSP00000455071.2:p.Val38= | |
| ENST00000562638.5:c.114A>G | ENSP00000456802.1:p.Val38= | |
| ENST00000562680.5:n.595A>G | ||
| ENST00000563686.5:n.359A>G | ||
| ENST00000563824.5:c.432A>G | ENSP00000457113.2:p.Val144= | |
| ENST00000563888.6:c.429A>G | ENSP00000457747.3:p.Val143= | |
| ENST00000564228.5:c.291A>G | ENSP00000455261.1:p.Val97= | |
| ENST00000564403.6:c.504A>G | ENSP00000457263.1:p.Val168= | |
| ENST00000564999.5:c.504A>G | ENSP00000457649.1:p.Val168= | |
| ENST00000565018.6:c.297+53050A>G | ENSP00000455984.2:n.297+53050A>G | |
| ENST00000565580.3:n.298+53050A>G | ||
| ENST00000565908.6:c.432A>G | ENSP00000454584.2:p.Val144= | |
| ENST00000566279.5:c.369+53050A>G | ENSP00000456125.1:n.369+53050A>G | |
| ENST00000566286.5:c.498A>G | ENSP00000455418.2:p.Val166= | |
| ENST00000566376.3:n.184A>G | ||
| ENST00000566514.5:c.465A>G | ENSP00000456983.2:p.Val155= | |
| ENST00000566777.5:c.114A>G | ENSP00000457245.2:p.Val38= | |
| ENST00000567880.5:c.369+53050A>G | ENSP00000454366.1:n.369+53050A>G | |
| ENST00000568147.5:c.468A>G | ENSP00000455163.2:p.Val156= | |
| ENST00000568169.5:c.516A>G | ENSP00000457392.1:p.Val172= | |
| ENST00000568186.5:c.114A>G | ENSP00000458122.1:p.Val38= | |
| ENST00000568673.5:c.432A>G | ENSP00000455135.1:p.Val144= | |
| ENST00000568740.5:c.429A>G | ENSP00000455346.1:p.Val143= | |
| ENST00000569012.5:c.114A>G | ENSP00000455304.1:p.Val38= | |
| ENST00000570177.6:c.114A>G | ENSP00000454647.1:p.Val38= | |
| ENST00000590810.5:c.150A>G | ENSP00000468277.2:p.Val50= | |
| ENST00000616053.4:c.297+53050A>G | ENSP00000478549.1:n.297+53050A>G | |
| ENST00000625849.2:n.364A>G | ||
| ENST00000625925.2:c.114A>G | ENSP00000487413.1:p.Val38= | |
| ENST00000626425.2:c.429A>G | ENSP00000486111.1:p.Val143= | |
| ENST00000626584.2:c.-100+53050A>G | ENSP00000486072.1:n.-100+53050A>G | |
| ENST00000626595.2:c.504A>G | ENSP00000487415.1:p.Val168= | |
| ENST00000627136.2:n.478A>G | ||
| ENST00000627685.2:c.432A>G | ENSP00000487171.1:p.Val144= | |
| ENST00000628078.2:c.114A>G | ENSP00000486909.1:p.Val38= | |
| ENST00000628636.2:c.114A>G | ENSP00000485755.1:p.Val38= | |
| ENST00000629343.2:c.114A>G | ENSP00000486148.1:p.Val38= | |
| ENST00000629387.2:c.504A>G | ENSP00000486670.1:p.Val168= | |
| ENST00000630268.2:c.114A>G | ENSP00000486405.1:p.Val38= | |
| ENST00000630319.2:c.273A>G | ENSP00000486215.1:p.Val91= | |
| ENST00000630712.2:c.114A>G | ENSP00000487419.1:p.Val38= | |
| ENST00000630828.2:c.294A>G | ENSP00000486974.1:p.Val98= | |
| ENST00000631043.2:n.303A>G | ||
| NM_001083962.1:c.504A>G | NP_001077431.1:p.Val168= | |
| NM_001243226.2:c.810A>G | NP_001230155.2:p.Val270= | |
| NM_001243227.1:c.432A>G | NP_001230156.1:p.Val144= | |
| NM_001243228.1:c.504A>G | NP_001230157.1:p.Val168= | |
| NM_001243230.1:c.498A>G | NP_001230159.1:p.Val166= | |
| NM_001243231.1:c.378A>G | NP_001230160.1:p.Val126= | |
| NM_001243232.1:c.291A>G | NP_001230161.1:p.Val97= | |
| NM_001243233.1:c.114A>G | NP_001230162.1:p.Val38= | |
| NM_001306207.1:c.432A>G | NP_001293136.1:p.Val144= | |
| NM_001306208.1:c.291A>G | NP_001293137.1:p.Val97= | |
| NM_003199.2:c.504A>G | NP_003190.1:p.Val168= | |
| XM_005266739.3:c.432A>G | XP_005266796.2:p.Val144= | |
| XM_005266741.3:c.501A>G | XP_005266798.1:p.Val167= | |
| XM_005266743.3:c.432A>G | XP_005266800.1:p.Val144= | |
| XM_005266744.3:c.432A>G | XP_005266801.1:p.Val144= | |
| XM_005266745.3:c.429A>G | XP_005266802.1:p.Val143= | |
| XM_005266747.3:c.378A>G | XP_005266804.1:p.Val126= | |
| XM_005266749.3:c.294A>G | XP_005266806.1:p.Val98= | |
| XM_005266752.3:c.114A>G | XP_005266809.1:p.Val38= | |
| XM_005266754.3:c.114A>G | XP_005266811.1:p.Val38= | |
| XM_005266755.3:c.114A>G | XP_005266812.1:p.Val38= | |
| XM_006722536.2:c.504A>G | XP_006722599.1:p.Val168= | |
| XM_006722537.2:c.504A>G | XP_006722600.1:p.Val168= | |
| XM_006722538.2:c.429A>G | XP_006722601.1:p.Val143= | |
| XM_006722539.2:c.114A>G | XP_006722602.1:p.Val38= | |
| XM_006722540.2:c.114A>G | XP_006722603.1:p.Val38= | |
| XM_011526154.1:c.807A>G | XP_011524456.1:p.Val269= | |
| XM_011526155.1:c.810A>G | XP_011524457.1:p.Val270= | |
| XM_011526156.1:c.810A>G | XP_011524458.1:p.Val270= | |
| XM_011526157.1:c.807A>G | XP_011524459.1:p.Val269= | |
| XM_011526158.1:c.498A>G | XP_011524460.1:p.Val166= | |
| XM_011526159.1:c.114A>G | XP_011524461.1:p.Val38= | |
| XM_011526160.1:c.114A>G | XP_011524462.1:p.Val38= | |
| XM_011526161.1:c.114A>G | XP_011524463.1:p.Val38= | |
| XM_011526162.1:c.114A>G | XP_011524464.1:p.Val38= | |
| XM_011526163.1:c.114A>G | XP_011524465.1:p.Val38= | |
| XM_011526164.1:c.114A>G | XP_011524466.1:p.Val38= | |
| NM_001330604.2:c.504A>G | NP_001317533.1:p.Val168= | |
| NM_001330605.2:c.114A>G | NP_001317534.1:p.Val38= | |
| NM_001348211.1:c.378A>G | NP_001335140.1:p.Val126= | |
| NM_001348212.1:c.114A>G | NP_001335141.1:p.Val38= | |
| NM_001348213.1:c.114A>G | NP_001335142.1:p.Val38= | |
| NM_001348217.1:c.432A>G | NP_001335146.1:p.Val144= | |
| NM_001348218.1:c.432A>G | NP_001335147.1:p.Val144= | |
| NM_001348219.1:c.432A>G | NP_001335148.1:p.Val144= | |
| NM_001348220.1:c.429A>G | NP_001335149.1:p.Val143= | |
| XM_005266739.4:c.432A>G | XP_005266796.2:p.Val144= | |
| XM_005266741.4:c.501A>G | XP_005266798.1:p.Val167= | |
| XM_005266745.4:c.429A>G | XP_005266802.1:p.Val143= | |
| XM_005266749.4:c.294A>G | XP_005266806.1:p.Val98= | |
| XM_005266752.5:c.114A>G | XP_005266809.1:p.Val38= | |
| XM_005266755.5:c.114A>G | XP_005266812.1:p.Val38= | |
| XM_006722536.3:c.504A>G | XP_006722599.1:p.Val168= | |
| XM_006722537.3:c.504A>G | XP_006722600.1:p.Val168= | |
| XM_006722538.3:c.429A>G | XP_006722601.1:p.Val143= | |
| XM_017025934.2:c.429A>G | XP_016881423.1:p.Val143= | |
| XM_017025935.2:c.432A>G | XP_016881424.1:p.Val144= | |
| XM_017025936.2:c.432A>G | XP_016881425.1:p.Val144= | |
| XM_017025937.2:c.429A>G | XP_016881426.1:p.Val143= | |
| XM_017025938.2:c.501A>G | XP_016881427.1:p.Val167= | |
| XM_017025940.2:c.504A>G | XP_016881429.1:p.Val168= | |
| XM_017025941.2:c.504A>G | XP_016881430.1:p.Val168= | |
| XM_017025942.2:c.501A>G | XP_016881431.1:p.Val167= | |
| XM_017025943.2:c.504A>G | XP_016881432.1:p.Val168= | |
| XM_017025944.2:c.429A>G | XP_016881433.1:p.Val143= | |
| XM_017025945.2:c.432A>G | XP_016881434.1:p.Val144= | |
| XM_017025946.2:c.432A>G | XP_016881435.1:p.Val144= | |
| XM_017025948.2:c.429A>G | XP_016881437.1:p.Val143= | |
| XM_017025950.2:c.429A>G | XP_016881439.1:p.Val143= | |
| XM_017025951.2:c.378A>G | XP_016881440.1:p.Val126= | |
| XM_017025952.2:c.291A>G | XP_016881441.1:p.Val97= | |
| XM_017025953.2:c.294A>G | XP_016881442.1:p.Val98= | |
| XM_017025954.2:c.114A>G | XP_016881443.1:p.Val38= | |
| XM_017025956.2:c.114A>G | XP_016881445.1:p.Val38= | |
| XM_024451240.1:c.432A>G | XP_024307008.1:p.Val144= | |
| XM_024451241.1:c.267A>G | XP_024307009.1:p.Val89= | |
| NM_001083962.2:c.504A>G MANE Select | NP_001077431.1:p.Val168= | |
| NM_001243226.3:c.810A>G | NP_001230155.2:p.Val270= | |
| NM_001243227.2:c.432A>G | NP_001230156.1:p.Val144= | |
| NM_001243228.2:c.504A>G | NP_001230157.1:p.Val168= | |
| NM_001243231.2:c.378A>G | NP_001230160.1:p.Val126= | |
| NM_001243233.2:c.114A>G | NP_001230162.1:p.Val38= | |
| NM_001330604.3:c.504A>G | NP_001317533.1:p.Val168= | |
| NM_001330605.3:c.114A>G | NP_001317534.1:p.Val38= | |
| NM_001348211.2:c.378A>G | NP_001335140.1:p.Val126= | |
| NM_001348212.2:c.114A>G | NP_001335141.1:p.Val38= | |
| NM_001348213.2:c.114A>G | NP_001335142.1:p.Val38= | |
| NM_001348218.2:c.432A>G | NP_001335147.1:p.Val144= | |
| NM_001348219.2:c.432A>G | NP_001335148.1:p.Val144= | |
| NM_001369567.1:c.504A>G | NP_001356496.1:p.Val168= | |
| NM_001369568.1:c.504A>G | NP_001356497.1:p.Val168= | |
| NM_001369569.1:c.501A>G | NP_001356498.1:p.Val167= | |
| NM_001369570.1:c.501A>G | NP_001356499.1:p.Val167= | |
| NM_001369571.1:c.504A>G | NP_001356500.1:p.Val168= | |
| NM_001369572.1:c.504A>G | NP_001356501.1:p.Val168= | |
| NM_001369573.1:c.501A>G | NP_001356502.1:p.Val167= | |
| NM_001369574.1:c.504A>G | NP_001356503.1:p.Val168= | |
| NM_001369575.1:c.432A>G | NP_001356504.1:p.Val144= | |
| NM_001369576.1:c.429A>G | NP_001356505.1:p.Val143= | |
| NM_001369577.1:c.432A>G | NP_001356506.1:p.Val144= | |
| NM_001369578.1:c.429A>G | NP_001356507.1:p.Val143= | |
| NM_001369579.1:c.432A>G | NP_001356508.1:p.Val144= | |
| NM_001369580.1:c.432A>G | NP_001356509.1:p.Val144= | |
| NM_001369581.1:c.429A>G | NP_001356510.1:p.Val143= | |
| NM_001369582.1:c.432A>G | NP_001356511.1:p.Val144= | |
| NM_001369583.1:c.432A>G | NP_001356512.1:p.Val144= | |
| NM_001369584.1:c.429A>G | NP_001356513.1:p.Val143= | |
| NM_001369585.1:c.429A>G | NP_001356514.1:p.Val143= | |
| NM_001369586.1:c.432A>G | NP_001356515.1:p.Val144= | |
| NM_003199.3:c.504A>G | NP_003190.1:p.Val168= | |
| NM_001243230.2:c.498A>G | NP_001230159.1:p.Val166= |