Linked Data
dbSNP Id:
rs774642875
ExAC:
6:86216977 G / C
gnomAD v2:
6-86216977-G-C
gnomAD v3:
6-85507259-G-C
gnomAD v4:
6-85507259-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85507259G>C , CM000668.2:g.85507259G>C | GRCh38 |
| NC_000006.11:g.86216977G>C , CM000668.1:g.86216977G>C | GRCh37 |
| NC_000006.10:g.86273696G>C | NCBI36 |
| NG_047171.1:g.91898C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418862.2:c.904C>G | ENSP00000391981.2:p.Gln302Glu | |
| ENST00000508658.6:c.2776C>G | ENSP00000422814.2:p.Gln926Glu | |
| ENST00000509338.6:c.1897C>G | ENSP00000424302.2:p.Gln633Glu | |
| ENST00000514801.2:n.1993C>G | ||
| ENST00000515216.6:c.2746-3C>G | ENSP00000425630.2:n.2746-3C>G | |
| ENST00000681965.1:c.3914C>G | ENSP00000507317.1:n.3914C>G | |
| ENST00000681981.1:c.2692C>G | ENSP00000507672.1:p.Gln898Glu | |
| ENST00000682022.1:c.*2668C>G | ENSP00000508118.1:n.*2668C>G | |
| ENST00000682023.1:c.*2399C>G | ENSP00000507998.1:n.*2399C>G | |
| ENST00000682034.1:c.*1943C>G | ENSP00000506724.1:n.*1943C>G | |
| ENST00000682057.1:c.*2205C>G | ENSP00000507883.1:n.*2205C>G | |
| ENST00000682083.1:c.*2686C>G | ENSP00000506859.1:n.*2686C>G | |
| ENST00000682106.1:n.5290C>G | ||
| ENST00000682133.1:c.*339C>G | ENSP00000507001.1:n.*339C>G | |
| ENST00000682171.1:c.2617C>G | ENSP00000508327.1:p.Gln873Glu | |
| ENST00000682174.1:c.*2399C>G | ENSP00000507248.1:n.*2399C>G | |
| ENST00000682374.1:c.*1322C>G | ENSP00000507425.1:n.*1322C>G | |
| ENST00000682412.1:c.2616C>G | ENSP00000507297.1:n.2616C>G | |
| ENST00000682454.1:c.*2139C>G | ENSP00000507851.1:n.*2139C>G | |
| ENST00000682455.1:c.*3754C>G | ENSP00000507586.1:n.*3754C>G | |
| ENST00000682464.1:c.*339C>G | ENSP00000507625.1:n.*339C>G | |
| ENST00000682491.1:c.2488C>G | ENSP00000506970.1:p.Gln830Glu | |
| ENST00000682497.1:c.2773C>G | ENSP00000507869.1:p.Gln925Glu | |
| ENST00000682504.1:c.*2682C>G | ENSP00000507623.1:n.*2682C>G | |
| ENST00000682514.1:n.8563C>G | ||
| ENST00000682594.1:n.3392C>G | ||
| ENST00000682633.1:c.*339C>G | ENSP00000507843.1:n.*339C>G | |
| ENST00000682660.1:c.2515C>G | ENSP00000507539.1:p.Gln839Glu | |
| ENST00000682682.1:c.2611C>G | ENSP00000507777.1:p.Gln871Glu | |
| ENST00000682688.1:c.*1781C>G | ENSP00000507097.1:n.*1781C>G | |
| ENST00000682694.1:c.*2139C>G | ENSP00000507387.1:n.*2139C>G | |
| ENST00000682709.1:n.8695C>G | ||
| ENST00000682738.1:c.2584C>G | ENSP00000507742.1:p.Gln862Glu | |
| ENST00000682776.1:c.*1527C>G | ENSP00000507490.1:n.*1527C>G | |
| ENST00000682854.1:c.*2764C>G | ENSP00000507257.1:n.*2764C>G | |
| ENST00000682878.1:c.*2464C>G | ENSP00000507360.1:n.*2464C>G | |
| ENST00000682926.1:n.2183C>G | ||
| ENST00000682939.1:c.2488C>G | ENSP00000506902.1:p.Gln830Glu | |
| ENST00000682991.1:c.2557C>G | ENSP00000508193.1:p.Gln853Glu | |
| ENST00000682995.1:c.*1500C>G | ENSP00000506807.1:n.*1500C>G | |
| ENST00000683073.1:c.*894C>G | ENSP00000507270.1:n.*894C>G | |
| ENST00000683074.1:c.*2686C>G | ENSP00000507008.1:n.*2686C>G | |
| ENST00000683085.1:c.*851C>G | ENSP00000507993.1:n.*851C>G | |
| ENST00000683097.1:c.*1146C>G | ENSP00000507556.1:n.*1146C>G | |
| ENST00000683126.1:c.*2296C>G | ENSP00000507507.1:n.*2296C>G | |
| ENST00000683195.1:c.*2139C>G | ENSP00000508190.1:n.*2139C>G | |
| ENST00000683196.1:c.*2139C>G | ENSP00000508297.1:n.*2139C>G | |
| ENST00000683364.1:c.*2646C>G | ENSP00000507791.1:n.*2646C>G | |
| ENST00000683436.1:c.*1807C>G | ENSP00000506874.1:n.*1807C>G | |
| ENST00000683458.1:c.*1527C>G | ENSP00000508204.1:n.*1527C>G | |
| ENST00000683473.1:n.3887C>G | ||
| ENST00000683479.1:c.2776C>G | ENSP00000507368.1:p.Gln926Glu | |
| ENST00000683481.1:c.*1658C>G | ENSP00000507015.1:n.*1658C>G | |
| ENST00000683541.1:c.2773C>G | ENSP00000507116.1:p.Gln925Glu | |
| ENST00000683542.1:c.*2300C>G | ENSP00000506893.1:n.*2300C>G | |
| ENST00000683577.1:c.*339C>G | ENSP00000507516.1:n.*339C>G | |
| ENST00000683583.1:c.*5190C>G | ENSP00000507244.1:n.*5190C>G | |
| ENST00000683643.1:c.2644C>G | ENSP00000507444.1:p.Gln882Glu | |
| ENST00000683698.1:c.*2292C>G | ENSP00000507000.1:n.*2292C>G | |
| ENST00000683726.1:c.*2296C>G | ENSP00000507744.1:n.*2296C>G | |
| ENST00000683754.1:c.2695C>G | ENSP00000507707.1:p.Gln899Glu | |
| ENST00000683763.1:n.1474C>G | ||
| ENST00000683785.1:c.2641C>G | ENSP00000507188.1:p.Gln881Glu | |
| ENST00000683803.1:c.*1527C>G | ENSP00000508216.1:n.*1527C>G | |
| ENST00000683857.1:c.*2205C>G | ENSP00000508015.1:n.*2205C>G | |
| ENST00000683873.1:c.*2351C>G | ENSP00000506829.1:n.*2351C>G | |
| ENST00000683878.1:c.*2057C>G | ENSP00000507449.1:n.*2057C>G | |
| ENST00000683880.1:c.*2300C>G | ENSP00000508357.1:n.*2300C>G | |
| ENST00000683898.1:c.2611C>G | ENSP00000506897.1:p.Gln871Glu | |
| ENST00000683909.1:n.4806C>G | ||
| ENST00000684017.1:n.8288C>G | ||
| ENST00000684108.1:n.8695C>G | ||
| ENST00000684118.1:c.2743-3C>G | ENSP00000507950.1:n.2743-3C>G | |
| ENST00000684150.1:c.2617C>G | ENSP00000507401.1:p.Gln873Glu | |
| ENST00000684220.1:c.*2646C>G | ENSP00000507382.1:n.*2646C>G | |
| ENST00000684239.1:c.*2401C>G | ENSP00000507479.1:n.*2401C>G | |
| ENST00000684273.1:c.*2269C>G | ENSP00000508063.1:n.*2269C>G | |
| ENST00000684281.1:c.2425C>G | ENSP00000507932.1:p.Gln809Glu | |
| ENST00000684299.1:c.*339C>G | ENSP00000507637.1:n.*339C>G | |
| ENST00000684319.1:c.*339C>G | ENSP00000508346.1:n.*339C>G | |
| ENST00000684422.1:c.*2449C>G | ENSP00000507146.1:n.*2449C>G | |
| ENST00000684451.1:c.*2081C>G | ENSP00000507384.1:n.*2081C>G | |
| ENST00000684570.1:c.2839C>G | ENSP00000508127.1:p.Gln947Glu | |
| ENST00000684581.1:c.*597C>G | ENSP00000507294.1:n.*597C>G | |
| ENST00000684647.1:c.2485C>G | ENSP00000506873.1:p.Gln829Glu | |
| ENST00000684680.1:c.2401C>G | ENSP00000507491.1:p.Gln801Glu | |
| ENST00000684717.1:c.2893C>G | ENSP00000507024.1:p.Gln965Glu | |
| ENST00000314673.8:c.2776C>G MANE Select | ENSP00000313121.3:p.Gln926Glu | |
| ENST00000314673.7:c.2776C>G | ENSP00000313121.3:p.Gln926Glu | |
| ENST00000346348.7:c.2617C>G | ENSP00000257769.3:p.Gln873Glu | |
| ENST00000369627.6:c.2749C>G | ENSP00000358641.2:p.Gln917Glu | |
| ENST00000474645.6:n.521C>G | ||
| ENST00000503491.5:n.3265C>G | ||
| ENST00000505648.5:c.2620C>G | ENSP00000427380.1:p.Gln874Glu | |
| ENST00000508658.5:c.492C>G | ||
| ENST00000508980.5:n.3382C>G | ||
| ENST00000513865.5:c.1933C>G | ENSP00000420938.1:p.Gln645Glu | |
| NM_001297614.2:c.2749C>G | NP_001284543.1:p.Gln917Glu | |
| NM_001304479.1:c.2620C>G | NP_001291408.1:p.Gln874Glu | |
| NM_020468.5:c.2617C>G | NP_065201.1:p.Gln873Glu | |
| NM_153816.5:c.2776C>G | NP_722523.1:p.Gln926Glu | |
| XM_005248738.3:c.2773C>G | XP_005248795.1:p.Gln925Glu | |
| XM_005248740.3:c.2644C>G | XP_005248797.1:p.Gln882Glu | |
| XM_011535978.1:c.2557C>G | XP_011534280.1:p.Gln853Glu | |
| XM_011535979.1:c.2488C>G | XP_011534281.1:p.Gln830Glu | |
| XM_011535980.1:c.1621C>G | XP_011534282.1:p.Gln541Glu | |
| XR_942523.1:n.2884C>G | ||
| NM_001350532.1:c.2839C>G | NP_001337461.1:p.Gln947Glu | |
| NM_001350533.1:c.2773C>G | NP_001337462.1:p.Gln925Glu | |
| NM_001350534.1:c.2746C>G | NP_001337463.1:p.Gln916Glu | |
| NM_001350535.1:c.2743-3C>G | NP_001337464.1:n.2743-3C>G | |
| NM_001350536.1:c.2644C>G | NP_001337465.1:p.Gln882Glu | |
| NM_001350537.1:c.2641C>G | NP_001337466.1:p.Gln881Glu | |
| NM_001350538.1:c.2632C>G | NP_001337467.1:p.Gln878Glu | |
| NM_001350539.1:c.2617C>G | NP_001337468.1:p.Gln873Glu | |
| NM_001350540.1:c.2611C>G | NP_001337469.1:p.Gln871Glu | |
| NM_001350541.1:c.2584C>G | NP_001337470.1:p.Gln862Glu | |
| NM_001350542.1:c.2488C>G | NP_001337471.1:p.Gln830Glu | |
| NM_001350543.1:c.2485C>G | NP_001337472.1:p.Gln829Glu | |
| NM_001350544.1:c.2476C>G | NP_001337473.1:p.Gln826Glu | |
| NM_001350545.1:c.2332C>G | NP_001337474.1:p.Gln778Glu | |
| NM_001350546.1:c.2332C>G | NP_001337475.1:p.Gln778Glu | |
| NM_001350547.1:c.1726C>G | NP_001337476.1:p.Gln576Glu | |
| NM_001350548.1:c.1621C>G | NP_001337477.1:p.Gln541Glu | |
| NM_001350549.1:c.1621C>G | NP_001337478.1:p.Gln541Glu | |
| NM_001350550.1:c.1621C>G | NP_001337479.1:p.Gln541Glu | |
| NM_001350551.1:c.1621C>G | NP_001337480.1:p.Gln541Glu | |
| NM_001350552.1:c.1621C>G | NP_001337481.1:p.Gln541Glu | |
| NM_001350553.1:c.1594C>G | NP_001337482.1:p.Gln532Glu | |
| NR_146774.1:n.3210C>G | ||
| NR_146775.1:n.3213C>G | ||
| NR_146776.1:n.3336C>G | ||
| NR_146777.1:n.3464C>G | ||
| NR_146778.1:n.3468C>G | ||
| NR_146779.1:n.3465C>G | ||
| XM_017011090.1:c.2617C>G | XP_016866579.1:p.Gln873Glu | |
| XM_024446498.1:c.2485C>G | XP_024302266.1:p.Gln829Glu | |
| XM_024446499.1:c.1621C>G | XP_024302267.1:p.Gln541Glu | |
| NM_153816.6:c.2776C>G MANE Select | NP_722523.1:p.Gln926Glu | |
| NM_001297614.3:c.2749C>G | NP_001284543.1:p.Gln917Glu | |
| NM_001304479.2:c.2620C>G | NP_001291408.1:p.Gln874Glu | |
| NM_001350532.2:c.2839C>G | NP_001337461.1:p.Gln947Glu | |
| NM_001350533.2:c.2773C>G | NP_001337462.1:p.Gln925Glu | |
| NM_001350534.2:c.2746C>G | NP_001337463.1:p.Gln916Glu | |
| NM_001350535.2:c.2743-3C>G | NP_001337464.1:n.2743-3C>G | |
| NM_001350536.2:c.2644C>G | NP_001337465.1:p.Gln882Glu | |
| NM_001350537.2:c.2641C>G | NP_001337466.1:p.Gln881Glu | |
| NM_001350538.2:c.2632C>G | NP_001337467.1:p.Gln878Glu | |
| NM_001350539.2:c.2617C>G | NP_001337468.1:p.Gln873Glu | |
| NM_001350540.2:c.2611C>G | NP_001337469.1:p.Gln871Glu | |
| NM_001350541.2:c.2584C>G | NP_001337470.1:p.Gln862Glu | |
| NM_001350542.2:c.2488C>G | NP_001337471.1:p.Gln830Glu | |
| NM_001350543.2:c.2485C>G | NP_001337472.1:p.Gln829Glu | |
| NM_001350544.2:c.2476C>G | NP_001337473.1:p.Gln826Glu | |
| NM_001350545.2:c.2332C>G | NP_001337474.1:p.Gln778Glu | |
| NM_001350546.2:c.2332C>G | NP_001337475.1:p.Gln778Glu | |
| NM_001350547.2:c.1726C>G | NP_001337476.1:p.Gln576Glu | |
| NM_001350548.2:c.1621C>G | NP_001337477.1:p.Gln541Glu | |
| NM_001350549.2:c.1621C>G | NP_001337478.1:p.Gln541Glu | |
| NM_001350550.2:c.1621C>G | NP_001337479.1:p.Gln541Glu | |
| NM_001350551.2:c.1621C>G | NP_001337480.1:p.Gln541Glu | |
| NM_001350552.2:c.1621C>G | NP_001337481.1:p.Gln541Glu | |
| NM_001350553.2:c.1594C>G | NP_001337482.1:p.Gln532Glu | |
| NM_020468.6:c.2617C>G | NP_065201.1:p.Gln873Glu | |
| NR_146774.2:n.2912C>G | ||
| NR_146775.2:n.2915C>G | ||
| NR_146776.2:n.3038C>G | ||
| NR_146777.2:n.3166C>G | ||
| NR_146778.2:n.3170C>G | ||
| NR_146779.2:n.3167C>G |