Linked Data
ClinVar Variation Id:
1276052
ClinVar RCV Id:
RCV001694377
dbSNP Id:
rs1051006
ExAC:
11:47306585 G / A
gnomAD v2:
11-47306585-G-A
gnomAD v3:
11-47285034-G-A
gnomAD v4:
11-47285034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47285034G>A , CM000673.2:g.47285034G>A | GRCh38 |
| NC_000011.9:g.47306585G>A , CM000673.1:g.47306585G>A | GRCh37 |
| NC_000011.8:g.47263161G>A | NCBI36 |
| NG_029462.1:g.20659G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526603.6:c.2047G>A | ENSP00000516603.1:p.Val683Met | |
| ENST00000634938.2:c.2251G>A | ENSP00000489300.2:p.Val751Met | |
| ENST00000706886.1:c.2251G>A | ENSP00000516602.1:p.Val751Met | |
| ENST00000706887.1:c.2251G>A MANE Select | ENSP00000516604.1:p.Val751Met | |
| ENST00000706888.1:c.2251G>A | ENSP00000516605.1:p.Val751Met | |
| ENST00000706889.1:c.2251G>A | ENSP00000516606.1:p.Val751Met | |
| ENST00000706890.1:c.2251G>A | ENSP00000516607.1:p.Val751Met | |
| ENST00000706891.1:c.2047G>A | ENSP00000516608.1:p.Val683Met | |
| ENST00000311027.9:c.2251G>A | ENSP00000310933.4:p.Val751Met | |
| ENST00000342922.8:c.2251G>A | ENSP00000343902.4:p.Val751Met | |
| ENST00000349238.7:c.2251G>A | ENSP00000304505.6:p.Val751Met | |
| ENST00000395336.7:c.2251G>A | ENSP00000378745.3:p.Val751Met | |
| ENST00000395344.7:c.2251G>A | ENSP00000378753.3:p.Val751Met | |
| ENST00000402192.6:c.2251G>A | ENSP00000384287.2:p.Val751Met | |
| ENST00000402799.5:c.2251G>A | ENSP00000385585.1:p.Val751Met | |
| ENST00000406482.5:c.2251G>A | ENSP00000384435.1:p.Val751Met | |
| ENST00000407859.7:c.2251G>A | ENSP00000384204.3:p.Val751Met | |
| ENST00000524530.5:n.89G>A | ||
| NM_001135943.1:c.2251G>A | NP_001129415.1:p.Val751Met | |
| NM_001135944.1:c.2251G>A | NP_001129416.1:p.Val751Met | |
| NM_003682.3:c.2251G>A | NP_003673.3:p.Val751Met | |
| NM_130470.2:c.2251G>A | NP_569826.2:p.Val751Met | |
| NM_130471.2:c.2251G>A | NP_569827.2:p.Val751Met | |
| NM_130472.2:c.2251G>A | NP_569828.2:p.Val751Met | |
| NM_130473.2:c.2251G>A | NP_569829.2:p.Val751Met | |
| NM_130474.2:c.2251G>A | NP_569830.2:p.Val751Met | |
| NM_130475.2:c.2251G>A | NP_569831.1:p.Val751Met | |
| NM_130476.2:c.2251G>A | NP_569832.2:p.Val751Met | |
| XM_005253188.1:c.2251G>A | XP_005253245.1:p.Val751Met | |
| XM_005253189.1:c.2251G>A | XP_005253246.1:p.Val751Met | |
| XM_005253190.1:c.2251G>A | XP_005253247.1:p.Val751Met | |
| XM_005253191.1:c.2251G>A | XP_005253248.1:p.Val751Met | |
| XM_005253192.1:c.2251G>A | XP_005253249.1:p.Val751Met | |
| XM_005253193.1:c.2251G>A | XP_005253250.1:p.Val751Met | |
| XM_005253194.1:c.2251G>A | XP_005253251.1:p.Val751Met | |
| XM_005253195.1:c.2251G>A | XP_005253252.1:p.Val751Met | |
| XM_005253196.1:c.2251G>A | XP_005253253.1:p.Val751Met | |
| XM_005253197.1:c.2251G>A | XP_005253254.1:p.Val751Met | |
| XM_005253198.1:c.2251G>A | XP_005253255.1:p.Val751Met | |
| XM_005253199.1:c.2251G>A | XP_005253256.1:p.Val751Met | |
| XM_005253200.1:c.2251G>A | XP_005253257.1:p.Val751Met | |
| XM_005253201.1:c.2251G>A | XP_005253258.1:p.Val751Met | |
| XM_005253202.1:c.2251G>A | XP_005253259.1:p.Val751Met | |
| XM_005253203.1:c.2251G>A | XP_005253260.1:p.Val751Met | |
| XM_005253204.1:c.2251G>A | XP_005253261.1:p.Val751Met | |
| XM_005253205.1:c.2251G>A | XP_005253262.1:p.Val751Met | |
| XM_005253206.2:c.2251G>A | XP_005253263.1:p.Val751Met | |
| XM_006718360.1:c.2251G>A | XP_006718423.1:p.Val751Met | |
| XM_006718361.1:c.2251G>A | XP_006718424.1:p.Val751Met | |
| XM_006718362.1:c.2251G>A | XP_006718425.1:p.Val751Met | |
| XM_006718363.1:c.2251G>A | XP_006718426.1:p.Val751Met | |
| XM_011520428.1:c.2251G>A | XP_011518730.1:p.Val751Met | |
| XM_011520429.1:c.2251G>A | XP_011518731.1:p.Val751Met | |
| XM_011520430.1:c.2251G>A | XP_011518732.1:p.Val751Met | |
| XM_011520431.1:c.2251G>A | XP_011518733.1:p.Val751Met | |
| XM_011520432.1:c.2251G>A | XP_011518734.1:p.Val751Met | |
| XM_011520433.1:c.2251G>A | XP_011518735.1:p.Val751Met | |
| XM_011520434.1:c.2251G>A | XP_011518736.1:p.Val751Met | |
| XM_011520435.1:c.2251G>A | XP_011518737.1:p.Val751Met | |
| XM_011520436.1:c.2251G>A | XP_011518738.1:p.Val751Met | |
| XM_011520437.1:c.2251G>A | XP_011518739.1:p.Val751Met | |
| XM_011520438.1:c.2251G>A | XP_011518740.1:p.Val751Met | |
| XM_011520439.1:c.2251G>A | XP_011518741.1:p.Val751Met | |
| XM_011520440.1:c.2047G>A | XP_011518742.1:p.Val683Met | |
| XM_011520441.1:c.376G>A | XP_011518743.1:p.Val126Met | |
| XM_011520442.1:c.292G>A | XP_011518744.1:p.Val98Met | |
| XR_242830.1:n.2466G>A | ||
| XR_930922.1:n.2466G>A | ||
| XM_005253189.3:c.2251G>A | XP_005253246.1:p.Val751Met | |
| XM_005253196.3:c.2251G>A | XP_005253253.1:p.Val751Met | |
| XM_005253199.3:c.2251G>A | XP_005253256.1:p.Val751Met | |
| XM_005253200.2:c.2251G>A | XP_005253257.1:p.Val751Met | |
| XM_005253201.3:c.2251G>A | XP_005253258.1:p.Val751Met | |
| XM_005253203.3:c.2251G>A | XP_005253260.1:p.Val751Met | |
| XM_005253204.3:c.2251G>A | XP_005253261.1:p.Val751Met | |
| XM_005253205.2:c.2251G>A | XP_005253262.1:p.Val751Met | |
| XM_017018478.2:c.2251G>A | XP_016873967.1:p.Val751Met | |
| XM_017018479.2:c.2251G>A | XP_016873968.1:p.Val751Met | |
| XM_017018480.2:c.2251G>A | XP_016873969.1:p.Val751Met | |
| XM_017018481.1:c.2251G>A | XP_016873970.1:p.Val751Met | |
| XM_017018482.2:c.2251G>A | XP_016873971.1:p.Val751Met | |
| XM_017018483.2:c.2251G>A | XP_016873972.1:p.Val751Met | |
| XM_017018484.2:c.2251G>A | XP_016873973.1:p.Val751Met | |
| XM_017018485.2:c.2251G>A | XP_016873974.1:p.Val751Met | |
| XM_017018486.2:c.2251G>A | XP_016873975.1:p.Val751Met | |
| XM_017018487.2:c.2251G>A | XP_016873976.1:p.Val751Met | |
| XM_017018488.1:c.2251G>A | XP_016873977.1:p.Val751Met | |
| XM_017018489.1:c.2251G>A | XP_016873978.1:p.Val751Met | |
| XM_017018490.1:c.2251G>A | XP_016873979.1:p.Val751Met | |
| XM_017018491.2:c.2251G>A | XP_016873980.1:p.Val751Met | |
| XM_017018492.1:c.2251G>A | XP_016873981.1:p.Val751Met | |
| XM_017018493.1:c.2251G>A | XP_016873982.1:p.Val751Met | |
| XM_017018498.1:c.2251G>A | XP_016873987.1:p.Val751Met | |
| XM_017018499.1:c.2251G>A | XP_016873988.1:p.Val751Met | |
| XM_017018500.1:c.2251G>A | XP_016873989.1:p.Val751Met | |
| XM_017018505.2:c.2251G>A | XP_016873994.1:p.Val751Met | |
| XM_017018506.1:c.2251G>A | XP_016873995.1:p.Val751Met | |
| XM_017018507.1:c.2251G>A | XP_016873996.1:p.Val751Met | |
| XM_024448745.1:c.2251G>A | XP_024304513.1:p.Val751Met | |
| XM_024448746.1:c.2251G>A | XP_024304514.1:p.Val751Met | |
| XM_024448747.1:c.2251G>A | XP_024304515.1:p.Val751Met | |
| XM_024448748.1:c.2251G>A | XP_024304516.1:p.Val751Met | |
| XM_024448749.1:c.2251G>A | XP_024304517.1:p.Val751Met | |
| XM_024448750.1:c.2251G>A | XP_024304518.1:p.Val751Met | |
| XM_024448751.1:c.2251G>A | XP_024304519.1:p.Val751Met | |
| XM_024448752.1:c.2251G>A | XP_024304520.1:p.Val751Met | |
| XM_024448753.1:c.2251G>A | XP_024304521.1:p.Val751Met | |
| XM_024448754.1:c.2251G>A | XP_024304522.1:p.Val751Met | |
| XM_024448755.1:c.2251G>A | XP_024304523.1:p.Val751Met | |
| NM_001135943.2:c.2251G>A | NP_001129415.1:p.Val751Met | |
| NM_001135944.2:c.2251G>A | NP_001129416.1:p.Val751Met | |
| NM_001376571.1:c.2251G>A MANE Select | NP_001363500.1:p.Val751Met | |
| NM_001376572.1:c.2251G>A | NP_001363501.1:p.Val751Met | |
| NM_001376573.1:c.2251G>A | NP_001363502.1:p.Val751Met | |
| NM_001376574.1:c.2251G>A | NP_001363503.1:p.Val751Met | |
| NM_001376575.1:c.2251G>A | NP_001363504.1:p.Val751Met | |
| NM_001376576.1:c.2251G>A | NP_001363505.1:p.Val751Met | |
| NM_001376577.1:c.2251G>A | NP_001363506.1:p.Val751Met | |
| NM_001376578.1:c.2251G>A | NP_001363507.1:p.Val751Met | |
| NM_001376579.1:c.2251G>A | NP_001363508.1:p.Val751Met | |
| NM_001376580.1:c.2251G>A | NP_001363509.1:p.Val751Met | |
| NM_001376581.1:c.2251G>A | NP_001363510.1:p.Val751Met | |
| NM_001376582.1:c.2251G>A | NP_001363511.1:p.Val751Met | |
| NM_001376583.1:c.2251G>A | NP_001363512.1:p.Val751Met | |
| NM_001376584.1:c.2251G>A | NP_001363513.1:p.Val751Met | |
| NM_001376585.1:c.2251G>A | NP_001363514.1:p.Val751Met | |
| NM_001376586.1:c.2251G>A | NP_001363515.1:p.Val751Met | |
| NM_001376593.1:c.2251G>A | NP_001363522.1:p.Val751Met | |
| NM_001376594.1:c.2251G>A | NP_001363523.1:p.Val751Met | |
| NM_001376595.1:c.2251G>A | NP_001363524.1:p.Val751Met | |
| NM_001376596.1:c.2251G>A | NP_001363525.1:p.Val751Met | |
| NM_001376597.1:c.2251G>A | NP_001363526.1:p.Val751Met | |
| NM_001376598.1:c.2251G>A | NP_001363527.1:p.Val751Met | |
| NM_001376599.1:c.2251G>A | NP_001363528.1:p.Val751Met | |
| NM_001376600.1:c.2251G>A | NP_001363529.1:p.Val751Met | |
| NM_001376601.1:c.2251G>A | NP_001363530.1:p.Val751Met | |
| NM_001376602.1:c.2227G>A | NP_001363531.1:p.Val743Met | |
| NM_001376603.1:c.2251G>A | NP_001363532.1:p.Val751Met | |
| NM_001376604.1:c.2251G>A | NP_001363533.1:p.Val751Met | |
| NM_001376605.1:c.2251G>A | NP_001363534.1:p.Val751Met | |
| NM_001376606.1:c.2251G>A | NP_001363535.1:p.Val751Met | |
| NM_001376607.1:c.2251G>A | NP_001363536.1:p.Val751Met | |
| NM_001376608.1:c.2251G>A | NP_001363537.1:p.Val751Met | |
| NM_001376609.1:c.2251G>A | NP_001363538.1:p.Val751Met | |
| NM_001376610.1:c.2251G>A | NP_001363539.1:p.Val751Met | |
| NM_001376611.1:c.2251G>A | NP_001363540.1:p.Val751Met | |
| NM_001376612.1:c.2251G>A | NP_001363541.1:p.Val751Met | |
| NM_001376613.1:c.2251G>A | NP_001363542.1:p.Val751Met | |
| NM_001376614.1:c.2251G>A | NP_001363543.1:p.Val751Met | |
| NM_001376615.1:c.2251G>A | NP_001363544.1:p.Val751Met | |
| NM_001376616.1:c.2251G>A | NP_001363545.1:p.Val751Met | |
| NM_001376617.1:c.2251G>A | NP_001363546.1:p.Val751Met | |
| NM_001376618.1:c.2251G>A | NP_001363547.1:p.Val751Met | |
| NM_001376619.1:c.2251G>A | NP_001363548.1:p.Val751Met | |
| NM_001376620.1:c.2047G>A | NP_001363549.1:p.Val683Met | |
| NM_001376621.1:c.2251G>A | NP_001363550.1:p.Val751Met | |
| NM_001376622.1:c.2251G>A | NP_001363551.1:p.Val751Met | |
| NM_001376623.1:c.2251G>A | NP_001363552.1:p.Val751Met | |
| NM_001376624.1:c.2251G>A | NP_001363553.1:p.Val751Met | |
| NM_001376625.1:c.2251G>A | NP_001363554.1:p.Val751Met | |
| NM_001376626.1:c.2047G>A | NP_001363555.1:p.Val683Met | |
| NM_001376627.1:c.2047G>A | NP_001363556.1:p.Val683Met | |
| NM_001376628.1:c.2251G>A | NP_001363557.1:p.Val751Met | |
| NM_001376629.1:c.2251G>A | NP_001363558.1:p.Val751Met | |
| NM_001376630.1:c.2251G>A | NP_001363559.1:p.Val751Met | |
| NM_001376631.1:c.2251G>A | NP_001363560.1:p.Val751Met | |
| NM_001376632.1:c.2251G>A | NP_001363561.1:p.Val751Met | |
| NM_001376633.1:c.2251G>A | NP_001363562.1:p.Val751Met | |
| NM_001376634.1:c.2251G>A | NP_001363563.1:p.Val751Met | |
| NM_001376635.1:c.2047G>A | NP_001363564.1:p.Val683Met | |
| NM_001376636.1:c.2251G>A | NP_001363565.1:p.Val751Met | |
| NM_001376637.1:c.2251G>A | NP_001363566.1:p.Val751Met | |
| NM_001376638.1:c.2251G>A | NP_001363567.1:p.Val751Met | |
| NM_001376639.1:c.2251G>A | NP_001363568.1:p.Val751Met | |
| NM_001376640.1:c.2251G>A | NP_001363569.1:p.Val751Met | |
| NM_001376641.1:c.2251G>A | NP_001363570.1:p.Val751Met | |
| NM_001376642.1:c.2251G>A | NP_001363571.1:p.Val751Met | |
| NM_001376643.1:c.2251G>A | NP_001363572.1:p.Val751Met | |
| NM_001376644.1:c.2047G>A | NP_001363573.1:p.Val683Met | |
| NM_001376645.1:c.2251G>A | NP_001363574.1:p.Val751Met | |
| NM_001376646.1:c.2047G>A | NP_001363575.1:p.Val683Met | |
| NM_001376647.1:c.2047G>A | NP_001363576.1:p.Val683Met | |
| NM_001376648.1:c.2047G>A | NP_001363577.1:p.Val683Met | |
| NM_001376649.1:c.2251G>A | NP_001363578.1:p.Val751Met | |
| NM_001376650.1:c.2251G>A | NP_001363579.1:p.Val751Met | |
| NM_001376651.1:c.2251G>A | NP_001363580.1:p.Val751Met | |
| NM_001376652.1:c.2251G>A | NP_001363581.1:p.Val751Met | |
| NM_001376653.1:c.2251G>A | NP_001363582.1:p.Val751Met | |
| NM_001376654.1:c.2047G>A | NP_001363583.1:p.Val683Met | |
| NM_001376655.1:c.2251G>A | NP_001363584.1:p.Val751Met | |
| NM_001376656.1:c.2251G>A | NP_001363585.1:p.Val751Met | |
| NM_001376657.1:c.2047G>A | NP_001363586.1:p.Val683Met | |
| NM_001376658.1:c.2251G>A | NP_001363587.1:p.Val751Met | |
| NM_001376659.1:c.2047G>A | NP_001363588.1:p.Val683Met | |
| NM_001376660.1:c.2047G>A | NP_001363589.1:p.Val683Met | |
| NM_001376661.1:c.2251G>A | NP_001363590.1:p.Val751Met | |
| NM_001376662.1:c.2251G>A | NP_001363591.1:p.Val751Met | |
| NM_001376663.1:c.1585G>A | NP_001363592.1:p.Val529Met | |
| NM_003682.4:c.2251G>A | NP_003673.3:p.Val751Met | |
| NM_130470.3:c.2251G>A | NP_569826.2:p.Val751Met | |
| NM_130471.3:c.2251G>A | NP_569827.2:p.Val751Met | |
| NM_130472.3:c.2251G>A | NP_569828.2:p.Val751Met | |
| NM_130473.3:c.2251G>A | NP_569829.2:p.Val751Met | |
| NM_130474.3:c.2251G>A | NP_569830.2:p.Val751Met | |
| NM_130475.3:c.2251G>A | NP_569831.1:p.Val751Met | |
| NM_130476.3:c.2251G>A | NP_569832.2:p.Val751Met | |
| NR_164835.1:n.2453G>A | ||
| NR_164836.1:n.2453G>A | ||
| NR_164837.1:n.2453G>A | ||
| NR_164838.1:n.2303G>A | ||
| NR_164839.1:n.2453G>A | ||
| NR_164840.1:n.2453G>A | ||
| NR_164841.1:n.2453G>A | ||
| NR_164842.1:n.2429G>A |