Linked Data
dbSNP Id:
rs1227690027
gnomAD v2:
6-86216975-C-T
gnomAD v3:
6-85507257-C-T
gnomAD v4:
6-85507257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85507257C>T , CM000668.2:g.85507257C>T | GRCh38 |
| NC_000006.11:g.86216975C>T , CM000668.1:g.86216975C>T | GRCh37 |
| NC_000006.10:g.86273694C>T | NCBI36 |
| NG_047171.1:g.91900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418862.2:c.906G>A | ENSP00000391981.2:p.Gln302= | |
| ENST00000508658.6:c.2778G>A | ENSP00000422814.2:p.Gln926= | |
| ENST00000509338.6:c.1899G>A | ENSP00000424302.2:p.Gln633= | |
| ENST00000514801.2:n.1995G>A | ||
| ENST00000515216.6:c.2746-1G>A | ENSP00000425630.2:n.2746-1G>A | |
| ENST00000681965.1:c.3916G>A | ENSP00000507317.1:n.3916G>A | |
| ENST00000681981.1:c.2694G>A | ENSP00000507672.1:p.Gln898= | |
| ENST00000682022.1:c.*2670G>A | ENSP00000508118.1:n.*2670G>A | |
| ENST00000682023.1:c.*2401G>A | ENSP00000507998.1:n.*2401G>A | |
| ENST00000682034.1:c.*1945G>A | ENSP00000506724.1:n.*1945G>A | |
| ENST00000682057.1:c.*2207G>A | ENSP00000507883.1:n.*2207G>A | |
| ENST00000682083.1:c.*2688G>A | ENSP00000506859.1:n.*2688G>A | |
| ENST00000682106.1:n.5292G>A | ||
| ENST00000682133.1:c.*341G>A | ENSP00000507001.1:n.*341G>A | |
| ENST00000682171.1:c.2619G>A | ENSP00000508327.1:p.Gln873= | |
| ENST00000682174.1:c.*2401G>A | ENSP00000507248.1:n.*2401G>A | |
| ENST00000682374.1:c.*1324G>A | ENSP00000507425.1:n.*1324G>A | |
| ENST00000682412.1:c.2618G>A | ENSP00000507297.1:n.2618G>A | |
| ENST00000682454.1:c.*2141G>A | ENSP00000507851.1:n.*2141G>A | |
| ENST00000682455.1:c.*3756G>A | ENSP00000507586.1:n.*3756G>A | |
| ENST00000682464.1:c.*341G>A | ENSP00000507625.1:n.*341G>A | |
| ENST00000682491.1:c.2490G>A | ENSP00000506970.1:p.Gln830= | |
| ENST00000682497.1:c.2775G>A | ENSP00000507869.1:p.Gln925= | |
| ENST00000682504.1:c.*2684G>A | ENSP00000507623.1:n.*2684G>A | |
| ENST00000682514.1:n.8565G>A | ||
| ENST00000682594.1:n.3394G>A | ||
| ENST00000682633.1:c.*341G>A | ENSP00000507843.1:n.*341G>A | |
| ENST00000682660.1:c.2517G>A | ENSP00000507539.1:p.Gln839= | |
| ENST00000682682.1:c.2613G>A | ENSP00000507777.1:p.Gln871= | |
| ENST00000682688.1:c.*1783G>A | ENSP00000507097.1:n.*1783G>A | |
| ENST00000682694.1:c.*2141G>A | ENSP00000507387.1:n.*2141G>A | |
| ENST00000682709.1:n.8697G>A | ||
| ENST00000682738.1:c.2586G>A | ENSP00000507742.1:p.Gln862= | |
| ENST00000682776.1:c.*1529G>A | ENSP00000507490.1:n.*1529G>A | |
| ENST00000682854.1:c.*2766G>A | ENSP00000507257.1:n.*2766G>A | |
| ENST00000682878.1:c.*2466G>A | ENSP00000507360.1:n.*2466G>A | |
| ENST00000682926.1:n.2185G>A | ||
| ENST00000682939.1:c.2490G>A | ENSP00000506902.1:p.Gln830= | |
| ENST00000682991.1:c.2559G>A | ENSP00000508193.1:p.Gln853= | |
| ENST00000682995.1:c.*1502G>A | ENSP00000506807.1:n.*1502G>A | |
| ENST00000683073.1:c.*896G>A | ENSP00000507270.1:n.*896G>A | |
| ENST00000683074.1:c.*2688G>A | ENSP00000507008.1:n.*2688G>A | |
| ENST00000683085.1:c.*853G>A | ENSP00000507993.1:n.*853G>A | |
| ENST00000683097.1:c.*1148G>A | ENSP00000507556.1:n.*1148G>A | |
| ENST00000683126.1:c.*2298G>A | ENSP00000507507.1:n.*2298G>A | |
| ENST00000683195.1:c.*2141G>A | ENSP00000508190.1:n.*2141G>A | |
| ENST00000683196.1:c.*2141G>A | ENSP00000508297.1:n.*2141G>A | |
| ENST00000683364.1:c.*2648G>A | ENSP00000507791.1:n.*2648G>A | |
| ENST00000683436.1:c.*1809G>A | ENSP00000506874.1:n.*1809G>A | |
| ENST00000683458.1:c.*1529G>A | ENSP00000508204.1:n.*1529G>A | |
| ENST00000683473.1:n.3889G>A | ||
| ENST00000683479.1:c.2778G>A | ENSP00000507368.1:p.Gln926= | |
| ENST00000683481.1:c.*1660G>A | ENSP00000507015.1:n.*1660G>A | |
| ENST00000683541.1:c.2775G>A | ENSP00000507116.1:p.Gln925= | |
| ENST00000683542.1:c.*2302G>A | ENSP00000506893.1:n.*2302G>A | |
| ENST00000683577.1:c.*341G>A | ENSP00000507516.1:n.*341G>A | |
| ENST00000683583.1:c.*5192G>A | ENSP00000507244.1:n.*5192G>A | |
| ENST00000683643.1:c.2646G>A | ENSP00000507444.1:p.Gln882= | |
| ENST00000683698.1:c.*2294G>A | ENSP00000507000.1:n.*2294G>A | |
| ENST00000683726.1:c.*2298G>A | ENSP00000507744.1:n.*2298G>A | |
| ENST00000683754.1:c.2697G>A | ENSP00000507707.1:p.Gln899= | |
| ENST00000683763.1:n.1476G>A | ||
| ENST00000683785.1:c.2643G>A | ENSP00000507188.1:p.Gln881= | |
| ENST00000683803.1:c.*1529G>A | ENSP00000508216.1:n.*1529G>A | |
| ENST00000683857.1:c.*2207G>A | ENSP00000508015.1:n.*2207G>A | |
| ENST00000683873.1:c.*2353G>A | ENSP00000506829.1:n.*2353G>A | |
| ENST00000683878.1:c.*2059G>A | ENSP00000507449.1:n.*2059G>A | |
| ENST00000683880.1:c.*2302G>A | ENSP00000508357.1:n.*2302G>A | |
| ENST00000683898.1:c.2613G>A | ENSP00000506897.1:p.Gln871= | |
| ENST00000683909.1:n.4808G>A | ||
| ENST00000684017.1:n.8290G>A | ||
| ENST00000684108.1:n.8697G>A | ||
| ENST00000684118.1:c.2743-1G>A | ENSP00000507950.1:n.2743-1G>A | |
| ENST00000684150.1:c.2619G>A | ENSP00000507401.1:p.Gln873= | |
| ENST00000684220.1:c.*2648G>A | ENSP00000507382.1:n.*2648G>A | |
| ENST00000684239.1:c.*2403G>A | ENSP00000507479.1:n.*2403G>A | |
| ENST00000684273.1:c.*2271G>A | ENSP00000508063.1:n.*2271G>A | |
| ENST00000684281.1:c.2427G>A | ENSP00000507932.1:p.Gln809= | |
| ENST00000684299.1:c.*341G>A | ENSP00000507637.1:n.*341G>A | |
| ENST00000684319.1:c.*341G>A | ENSP00000508346.1:n.*341G>A | |
| ENST00000684422.1:c.*2451G>A | ENSP00000507146.1:n.*2451G>A | |
| ENST00000684451.1:c.*2083G>A | ENSP00000507384.1:n.*2083G>A | |
| ENST00000684570.1:c.2841G>A | ENSP00000508127.1:p.Gln947= | |
| ENST00000684581.1:c.*599G>A | ENSP00000507294.1:n.*599G>A | |
| ENST00000684647.1:c.2487G>A | ENSP00000506873.1:p.Gln829= | |
| ENST00000684680.1:c.2403G>A | ENSP00000507491.1:p.Gln801= | |
| ENST00000684717.1:c.2895G>A | ENSP00000507024.1:p.Gln965= | |
| ENST00000314673.8:c.2778G>A MANE Select | ENSP00000313121.3:p.Gln926= | |
| ENST00000314673.7:c.2778G>A | ENSP00000313121.3:p.Gln926= | |
| ENST00000346348.7:c.2619G>A | ENSP00000257769.3:p.Gln873= | |
| ENST00000369627.6:c.2751G>A | ENSP00000358641.2:p.Gln917= | |
| ENST00000474645.6:n.523G>A | ||
| ENST00000503491.5:n.3267G>A | ||
| ENST00000505648.5:c.2622G>A | ENSP00000427380.1:p.Gln874= | |
| ENST00000508658.5:c.494G>A | ||
| ENST00000508980.5:n.3384G>A | ||
| ENST00000513865.5:c.1935G>A | ENSP00000420938.1:p.Gln645= | |
| NM_001297614.2:c.2751G>A | NP_001284543.1:p.Gln917= | |
| NM_001304479.1:c.2622G>A | NP_001291408.1:p.Gln874= | |
| NM_020468.5:c.2619G>A | NP_065201.1:p.Gln873= | |
| NM_153816.5:c.2778G>A | NP_722523.1:p.Gln926= | |
| XM_005248738.3:c.2775G>A | XP_005248795.1:p.Gln925= | |
| XM_005248740.3:c.2646G>A | XP_005248797.1:p.Gln882= | |
| XM_011535978.1:c.2559G>A | XP_011534280.1:p.Gln853= | |
| XM_011535979.1:c.2490G>A | XP_011534281.1:p.Gln830= | |
| XM_011535980.1:c.1623G>A | XP_011534282.1:p.Gln541= | |
| XR_942523.1:n.2886G>A | ||
| NM_001350532.1:c.2841G>A | NP_001337461.1:p.Gln947= | |
| NM_001350533.1:c.2775G>A | NP_001337462.1:p.Gln925= | |
| NM_001350534.1:c.2748G>A | NP_001337463.1:p.Gln916= | |
| NM_001350535.1:c.2743-1G>A | NP_001337464.1:n.2743-1G>A | |
| NM_001350536.1:c.2646G>A | NP_001337465.1:p.Gln882= | |
| NM_001350537.1:c.2643G>A | NP_001337466.1:p.Gln881= | |
| NM_001350538.1:c.2634G>A | NP_001337467.1:p.Gln878= | |
| NM_001350539.1:c.2619G>A | NP_001337468.1:p.Gln873= | |
| NM_001350540.1:c.2613G>A | NP_001337469.1:p.Gln871= | |
| NM_001350541.1:c.2586G>A | NP_001337470.1:p.Gln862= | |
| NM_001350542.1:c.2490G>A | NP_001337471.1:p.Gln830= | |
| NM_001350543.1:c.2487G>A | NP_001337472.1:p.Gln829= | |
| NM_001350544.1:c.2478G>A | NP_001337473.1:p.Gln826= | |
| NM_001350545.1:c.2334G>A | NP_001337474.1:p.Gln778= | |
| NM_001350546.1:c.2334G>A | NP_001337475.1:p.Gln778= | |
| NM_001350547.1:c.1728G>A | NP_001337476.1:p.Gln576= | |
| NM_001350548.1:c.1623G>A | NP_001337477.1:p.Gln541= | |
| NM_001350549.1:c.1623G>A | NP_001337478.1:p.Gln541= | |
| NM_001350550.1:c.1623G>A | NP_001337479.1:p.Gln541= | |
| NM_001350551.1:c.1623G>A | NP_001337480.1:p.Gln541= | |
| NM_001350552.1:c.1623G>A | NP_001337481.1:p.Gln541= | |
| NM_001350553.1:c.1596G>A | NP_001337482.1:p.Gln532= | |
| NR_146774.1:n.3212G>A | ||
| NR_146775.1:n.3215G>A | ||
| NR_146776.1:n.3338G>A | ||
| NR_146777.1:n.3466G>A | ||
| NR_146778.1:n.3470G>A | ||
| NR_146779.1:n.3467G>A | ||
| XM_017011090.1:c.2619G>A | XP_016866579.1:p.Gln873= | |
| XM_024446498.1:c.2487G>A | XP_024302266.1:p.Gln829= | |
| XM_024446499.1:c.1623G>A | XP_024302267.1:p.Gln541= | |
| NM_153816.6:c.2778G>A MANE Select | NP_722523.1:p.Gln926= | |
| NM_001297614.3:c.2751G>A | NP_001284543.1:p.Gln917= | |
| NM_001304479.2:c.2622G>A | NP_001291408.1:p.Gln874= | |
| NM_001350532.2:c.2841G>A | NP_001337461.1:p.Gln947= | |
| NM_001350533.2:c.2775G>A | NP_001337462.1:p.Gln925= | |
| NM_001350534.2:c.2748G>A | NP_001337463.1:p.Gln916= | |
| NM_001350535.2:c.2743-1G>A | NP_001337464.1:n.2743-1G>A | |
| NM_001350536.2:c.2646G>A | NP_001337465.1:p.Gln882= | |
| NM_001350537.2:c.2643G>A | NP_001337466.1:p.Gln881= | |
| NM_001350538.2:c.2634G>A | NP_001337467.1:p.Gln878= | |
| NM_001350539.2:c.2619G>A | NP_001337468.1:p.Gln873= | |
| NM_001350540.2:c.2613G>A | NP_001337469.1:p.Gln871= | |
| NM_001350541.2:c.2586G>A | NP_001337470.1:p.Gln862= | |
| NM_001350542.2:c.2490G>A | NP_001337471.1:p.Gln830= | |
| NM_001350543.2:c.2487G>A | NP_001337472.1:p.Gln829= | |
| NM_001350544.2:c.2478G>A | NP_001337473.1:p.Gln826= | |
| NM_001350545.2:c.2334G>A | NP_001337474.1:p.Gln778= | |
| NM_001350546.2:c.2334G>A | NP_001337475.1:p.Gln778= | |
| NM_001350547.2:c.1728G>A | NP_001337476.1:p.Gln576= | |
| NM_001350548.2:c.1623G>A | NP_001337477.1:p.Gln541= | |
| NM_001350549.2:c.1623G>A | NP_001337478.1:p.Gln541= | |
| NM_001350550.2:c.1623G>A | NP_001337479.1:p.Gln541= | |
| NM_001350551.2:c.1623G>A | NP_001337480.1:p.Gln541= | |
| NM_001350552.2:c.1623G>A | NP_001337481.1:p.Gln541= | |
| NM_001350553.2:c.1596G>A | NP_001337482.1:p.Gln532= | |
| NM_020468.6:c.2619G>A | NP_065201.1:p.Gln873= | |
| NR_146774.2:n.2914G>A | ||
| NR_146775.2:n.2917G>A | ||
| NR_146776.2:n.3040G>A | ||
| NR_146777.2:n.3168G>A | ||
| NR_146778.2:n.3172G>A | ||
| NR_146779.2:n.3169G>A |