gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0005077 (AFR)
Genomes Max Group AF
0.00033888 (AFR)
Exomes Max Group AF
0.00059435 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55403493T>G , CM000680.2:g.55403493T>G | GRCh38 |
| NC_000018.9:g.53070724T>G , CM000680.1:g.53070724T>G | GRCh37 |
| NC_000018.8:g.51221722T>G | NCBI36 |
| NG_011716.1:g.190137A>C | |
| NG_011716.2:g.237501A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.330A>C MANE Select | ENSP00000346440.3:p.Ser110= | |
| ENST00000635822.2:c.330A>C | ENSP00000490451.1:p.Ser110= | |
| ENST00000636400.2:c.258A>C | ENSP00000490006.1:p.Ser86= | |
| ENST00000636751.2:c.258A>C | ENSP00000489783.1:p.Ser86= | |
| ENST00000637115.2:c.*220A>C | ENSP00000490234.1:n.*220A>C | |
| ENST00000637239.2:n.397A>C | ||
| ENST00000638154.3:c.360A>C | ENSP00000490625.2:p.Ser120= | |
| ENST00000674598.1:n.800A>C | ||
| ENST00000674764.1:c.179-52493A>C | ENSP00000502213.1:n.179-52493A>C | |
| ENST00000675707.1:c.-61A>C | ENSP00000501758.1:n.-61A>C | |
| ENST00000354452.7:c.330A>C | ENSP00000346440.3:p.Ser110= | |
| ENST00000356073.8:c.330A>C | ENSP00000348374.4:p.Ser110= | |
| ENST00000398339.5:c.636A>C | ENSP00000381382.1:p.Ser212= | |
| ENST00000537578.5:c.258A>C | ENSP00000440731.1:p.Ser86= | |
| ENST00000540999.5:c.258A>C | ENSP00000445202.1:p.Ser86= | |
| ENST00000543082.5:c.204A>C | ENSP00000439656.1:p.Ser68= | |
| ENST00000544241.6:c.120A>C | ENSP00000441562.2:p.Ser40= | |
| ENST00000561992.5:c.-61A>C | ENSP00000455179.1:n.-61A>C | |
| ENST00000562543.5:c.330A>C | ENSP00000455450.1:p.Ser110= | |
| ENST00000562847.5:c.93A>C | ENSP00000454866.1:p.Ser31= | |
| ENST00000563686.5:n.185A>C | ||
| ENST00000563824.5:c.258A>C | ENSP00000457113.2:p.Ser86= | |
| ENST00000563888.6:c.258A>C | ENSP00000457747.3:p.Ser86= | |
| ENST00000564228.5:c.120A>C | ENSP00000455261.1:p.Ser40= | |
| ENST00000564343.5:c.258A>C | ENSP00000454328.1:p.Ser86= | |
| ENST00000564403.6:c.330A>C | ENSP00000457263.1:p.Ser110= | |
| ENST00000564999.5:c.330A>C | ENSP00000457649.1:p.Ser110= | |
| ENST00000565018.6:c.258A>C | ENSP00000455984.2:p.Ser86= | |
| ENST00000565580.3:n.259A>C | ||
| ENST00000565908.6:c.258A>C | ENSP00000454584.2:p.Ser86= | |
| ENST00000566279.5:c.330A>C | ENSP00000456125.1:p.Ser110= | |
| ENST00000566286.5:c.324A>C | ENSP00000455418.2:p.Ser108= | |
| ENST00000566376.3:n.13A>C | ||
| ENST00000566514.5:c.291A>C | ENSP00000456983.2:p.Ser97= | |
| ENST00000566777.5:c.-61A>C | ENSP00000457245.2:n.-61A>C | |
| ENST00000567880.5:c.330A>C | ENSP00000454366.1:p.Ser110= | |
| ENST00000568147.5:c.294A>C | ENSP00000455163.2:p.Ser98= | |
| ENST00000568169.5:c.342A>C | ENSP00000457392.1:p.Ser114= | |
| ENST00000568186.5:c.-58A>C | ENSP00000458122.1:n.-58A>C | |
| ENST00000568673.5:c.258A>C | ENSP00000455135.1:p.Ser86= | |
| ENST00000568740.5:c.258A>C | ENSP00000455346.1:p.Ser86= | |
| ENST00000569357.4:c.539A>C | ||
| ENST00000616053.4:c.258A>C | ENSP00000478549.1:p.Ser86= | |
| ENST00000625716.2:n.260A>C | ||
| ENST00000625925.2:c.-58A>C | ENSP00000487413.1:n.-58A>C | |
| ENST00000626425.2:c.258A>C | ENSP00000486111.1:p.Ser86= | |
| ENST00000626584.2:c.-139A>C | ENSP00000486072.1:n.-139A>C | |
| ENST00000626595.2:c.330A>C | ENSP00000487415.1:p.Ser110= | |
| ENST00000627136.2:n.304A>C | ||
| ENST00000627685.2:c.258A>C | ENSP00000487171.1:p.Ser86= | |
| ENST00000627784.2:c.330A>C | ENSP00000487150.1:p.Ser110= | |
| ENST00000628078.2:c.-61A>C | ENSP00000486909.1:n.-61A>C | |
| ENST00000628636.2:c.-61A>C | ENSP00000485755.1:n.-61A>C | |
| ENST00000629343.2:c.-22+18699A>C | ENSP00000486148.1:n.-22+18699A>C | |
| ENST00000629387.2:c.330A>C | ENSP00000486670.1:p.Ser110= | |
| ENST00000630319.2:c.99A>C | ENSP00000486215.1:p.Ser33= | |
| ENST00000630712.2:c.-61A>C | ENSP00000487419.1:n.-61A>C | |
| ENST00000630828.2:c.120A>C | ENSP00000486974.1:p.Ser40= | |
| ENST00000631043.2:n.129A>C | ||
| NM_001083962.1:c.330A>C | NP_001077431.1:p.Ser110= | |
| NM_001243226.2:c.636A>C | NP_001230155.2:p.Ser212= | |
| NM_001243227.1:c.258A>C | NP_001230156.1:p.Ser86= | |
| NM_001243228.1:c.330A>C | NP_001230157.1:p.Ser110= | |
| NM_001243230.1:c.324A>C | NP_001230159.1:p.Ser108= | |
| NM_001243231.1:c.204A>C | NP_001230160.1:p.Ser68= | |
| NM_001243232.1:c.120A>C | NP_001230161.1:p.Ser40= | |
| NM_001243233.1:c.-61A>C | NP_001230162.1:n.-61A>C | |
| NM_001306207.1:c.258A>C | NP_001293136.1:p.Ser86= | |
| NM_001306208.1:c.120A>C | NP_001293137.1:p.Ser40= | |
| NM_003199.2:c.330A>C | NP_003190.1:p.Ser110= | |
| XM_005266739.3:c.258A>C | XP_005266796.2:p.Ser86= | |
| XM_005266741.3:c.330A>C | XP_005266798.1:p.Ser110= | |
| XM_005266743.3:c.258A>C | XP_005266800.1:p.Ser86= | |
| XM_005266744.3:c.258A>C | XP_005266801.1:p.Ser86= | |
| XM_005266745.3:c.258A>C | XP_005266802.1:p.Ser86= | |
| XM_005266747.3:c.204A>C | XP_005266804.1:p.Ser68= | |
| XM_005266749.3:c.120A>C | XP_005266806.1:p.Ser40= | |
| XM_005266752.3:c.-61A>C | XP_005266809.1:n.-61A>C | |
| XM_005266755.3:c.-58A>C | XP_005266812.1:n.-58A>C | |
| XM_006722536.2:c.330A>C | XP_006722599.1:p.Ser110= | |
| XM_006722537.2:c.330A>C | XP_006722600.1:p.Ser110= | |
| XM_006722538.2:c.258A>C | XP_006722601.1:p.Ser86= | |
| XM_011526154.1:c.636A>C | XP_011524456.1:p.Ser212= | |
| XM_011526155.1:c.636A>C | XP_011524457.1:p.Ser212= | |
| XM_011526156.1:c.636A>C | XP_011524458.1:p.Ser212= | |
| XM_011526157.1:c.636A>C | XP_011524459.1:p.Ser212= | |
| XM_011526158.1:c.324A>C | XP_011524460.1:p.Ser108= | |
| XM_011526159.1:c.-61A>C | XP_011524461.1:n.-61A>C | |
| NM_001330604.2:c.330A>C | NP_001317533.1:p.Ser110= | |
| NM_001348211.1:c.204A>C | NP_001335140.1:p.Ser68= | |
| NM_001348212.1:c.-58A>C | NP_001335141.1:n.-58A>C | |
| NM_001348213.1:c.-61A>C | NP_001335142.1:n.-61A>C | |
| NM_001348217.1:c.258A>C | NP_001335146.1:p.Ser86= | |
| NM_001348218.1:c.258A>C | NP_001335147.1:p.Ser86= | |
| NM_001348219.1:c.258A>C | NP_001335148.1:p.Ser86= | |
| NM_001348220.1:c.258A>C | NP_001335149.1:p.Ser86= | |
| XM_005266739.4:c.258A>C | XP_005266796.2:p.Ser86= | |
| XM_005266741.4:c.330A>C | XP_005266798.1:p.Ser110= | |
| XM_005266745.4:c.258A>C | XP_005266802.1:p.Ser86= | |
| XM_005266749.4:c.120A>C | XP_005266806.1:p.Ser40= | |
| XM_005266752.5:c.-61A>C | XP_005266809.1:n.-61A>C | |
| XM_005266755.5:c.-58A>C | XP_005266812.1:n.-58A>C | |
| XM_006722536.3:c.330A>C | XP_006722599.1:p.Ser110= | |
| XM_006722537.3:c.330A>C | XP_006722600.1:p.Ser110= | |
| XM_006722538.3:c.258A>C | XP_006722601.1:p.Ser86= | |
| XM_017025934.2:c.258A>C | XP_016881423.1:p.Ser86= | |
| XM_017025935.2:c.258A>C | XP_016881424.1:p.Ser86= | |
| XM_017025936.2:c.258A>C | XP_016881425.1:p.Ser86= | |
| XM_017025937.2:c.258A>C | XP_016881426.1:p.Ser86= | |
| XM_017025938.2:c.330A>C | XP_016881427.1:p.Ser110= | |
| XM_017025940.2:c.330A>C | XP_016881429.1:p.Ser110= | |
| XM_017025941.2:c.330A>C | XP_016881430.1:p.Ser110= | |
| XM_017025942.2:c.330A>C | XP_016881431.1:p.Ser110= | |
| XM_017025943.2:c.330A>C | XP_016881432.1:p.Ser110= | |
| XM_017025944.2:c.258A>C | XP_016881433.1:p.Ser86= | |
| XM_017025945.2:c.258A>C | XP_016881434.1:p.Ser86= | |
| XM_017025946.2:c.258A>C | XP_016881435.1:p.Ser86= | |
| XM_017025948.2:c.258A>C | XP_016881437.1:p.Ser86= | |
| XM_017025950.2:c.258A>C | XP_016881439.1:p.Ser86= | |
| XM_017025951.2:c.204A>C | XP_016881440.1:p.Ser68= | |
| XM_017025952.2:c.120A>C | XP_016881441.1:p.Ser40= | |
| XM_017025953.2:c.120A>C | XP_016881442.1:p.Ser40= | |
| XM_017025954.2:c.-61A>C | XP_016881443.1:n.-61A>C | |
| XM_024451240.1:c.258A>C | XP_024307008.1:p.Ser86= | |
| XM_024451241.1:c.93A>C | XP_024307009.1:p.Ser31= | |
| NM_001083962.2:c.330A>C MANE Select | NP_001077431.1:p.Ser110= | |
| NM_001243226.3:c.636A>C | NP_001230155.2:p.Ser212= | |
| NM_001243227.2:c.258A>C | NP_001230156.1:p.Ser86= | |
| NM_001243228.2:c.330A>C | NP_001230157.1:p.Ser110= | |
| NM_001243231.2:c.204A>C | NP_001230160.1:p.Ser68= | |
| NM_001243233.2:c.-61A>C | NP_001230162.1:n.-61A>C | |
| NM_001330604.3:c.330A>C | NP_001317533.1:p.Ser110= | |
| NM_001348211.2:c.204A>C | NP_001335140.1:p.Ser68= | |
| NM_001348212.2:c.-58A>C | NP_001335141.1:n.-58A>C | |
| NM_001348213.2:c.-61A>C | NP_001335142.1:n.-61A>C | |
| NM_001348218.2:c.258A>C | NP_001335147.1:p.Ser86= | |
| NM_001348219.2:c.258A>C | NP_001335148.1:p.Ser86= | |
| NM_001369567.1:c.330A>C | NP_001356496.1:p.Ser110= | |
| NM_001369568.1:c.330A>C | NP_001356497.1:p.Ser110= | |
| NM_001369569.1:c.330A>C | NP_001356498.1:p.Ser110= | |
| NM_001369570.1:c.330A>C | NP_001356499.1:p.Ser110= | |
| NM_001369571.1:c.330A>C | NP_001356500.1:p.Ser110= | |
| NM_001369572.1:c.330A>C | NP_001356501.1:p.Ser110= | |
| NM_001369573.1:c.330A>C | NP_001356502.1:p.Ser110= | |
| NM_001369574.1:c.330A>C | NP_001356503.1:p.Ser110= | |
| NM_001369575.1:c.258A>C | NP_001356504.1:p.Ser86= | |
| NM_001369576.1:c.258A>C | NP_001356505.1:p.Ser86= | |
| NM_001369577.1:c.258A>C | NP_001356506.1:p.Ser86= | |
| NM_001369578.1:c.258A>C | NP_001356507.1:p.Ser86= | |
| NM_001369579.1:c.258A>C | NP_001356508.1:p.Ser86= | |
| NM_001369580.1:c.258A>C | NP_001356509.1:p.Ser86= | |
| NM_001369581.1:c.258A>C | NP_001356510.1:p.Ser86= | |
| NM_001369582.1:c.258A>C | NP_001356511.1:p.Ser86= | |
| NM_001369583.1:c.258A>C | NP_001356512.1:p.Ser86= | |
| NM_001369584.1:c.258A>C | NP_001356513.1:p.Ser86= | |
| NM_001369585.1:c.258A>C | NP_001356514.1:p.Ser86= | |
| NM_001369586.1:c.258A>C | NP_001356515.1:p.Ser86= | |
| NM_003199.3:c.330A>C | NP_003190.1:p.Ser110= | |
| NM_001243230.2:c.324A>C | NP_001230159.1:p.Ser108= |