Linked Data
ClinVar Variation Id:
474608
dbSNP Id:
rs201921014
ExAC:
4:154255999 A / G
gnomAD v2:
4-154255999-A-G
gnomAD v3:
4-153334847-A-G
gnomAD v4:
4-153334847-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153334847A>G , CM000666.2:g.153334847A>G | GRCh38 |
| NC_000004.11:g.154255999A>G , CM000666.1:g.154255999A>G | GRCh37 |
| NC_000004.10:g.154475449A>G | NCBI36 |
| NG_041788.1:g.186730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338700.10:c.2197A>G MANE Select | ENSP00000339659.5:p.Ile733Val | |
| ENST00000437508.7:c.2116A>G | ENSP00000415812.2:p.Ile706Val | |
| ENST00000674680.1:c.2082+6177A>G | ENSP00000502469.1:n.2082+6177A>G | |
| ENST00000674718.1:n.3546A>G | ||
| ENST00000674726.1:c.2179A>G | ENSP00000502266.1:p.Ile727Val | |
| ENST00000674730.1:c.1834A>G | ENSP00000502130.1:p.Ile612Val | |
| ENST00000674769.1:c.2113A>G | ENSP00000502203.1:p.Ile705Val | |
| ENST00000674786.1:c.*1749A>G | ENSP00000502289.1:n.*1749A>G | |
| ENST00000674832.1:c.*1487A>G | ENSP00000502788.1:n.*1487A>G | |
| ENST00000674847.1:c.2275A>G | ENSP00000501983.1:p.Ile759Val | |
| ENST00000674872.1:c.2059A>G | ENSP00000501979.1:p.Ile687Val | |
| ENST00000674874.1:c.2116A>G | ENSP00000502519.1:p.Ile706Val | |
| ENST00000674876.1:c.2116A>G | ENSP00000501652.1:p.Ile706Val | |
| ENST00000674896.1:c.2167A>G | ENSP00000501725.1:p.Ile723Val | |
| ENST00000674935.1:c.2182A>G | ENSP00000501672.1:p.Ile728Val | |
| ENST00000674967.1:c.2082+6177A>G | ENSP00000501627.1:n.2082+6177A>G | |
| ENST00000674976.1:c.2116A>G | ENSP00000502356.1:p.Ile706Val | |
| ENST00000675019.1:n.3634A>G | ||
| ENST00000675054.1:c.2116A>G | ENSP00000502543.1:p.Ile706Val | |
| ENST00000675063.1:c.2209A>G | ENSP00000501562.1:p.Ile737Val | |
| ENST00000675079.1:c.2094+6177A>G | ENSP00000502677.1:n.2094+6177A>G | |
| ENST00000675136.1:c.*1749A>G | ENSP00000502292.1:n.*1749A>G | |
| ENST00000675146.1:c.1525A>G | ENSP00000501760.1:p.Ile509Val | |
| ENST00000675159.1:c.2116A>G | ENSP00000501792.1:p.Ile706Val | |
| ENST00000675210.1:c.*167A>G | ENSP00000501886.1:n.*167A>G | |
| ENST00000675239.1:c.*221A>G | ENSP00000501915.1:n.*221A>G | |
| ENST00000675293.1:c.2116A>G | ENSP00000502348.1:p.Ile706Val | |
| ENST00000675312.1:c.1837A>G | ENSP00000501684.1:p.Ile613Val | |
| ENST00000675315.1:c.2116A>G | ENSP00000502676.1:p.Ile706Val | |
| ENST00000675340.1:c.2059A>G | ENSP00000502290.1:p.Ile687Val | |
| ENST00000675343.1:c.*639A>G | ENSP00000502344.1:n.*639A>G | |
| ENST00000675348.1:c.*1820A>G | ENSP00000502568.1:n.*1820A>G | |
| ENST00000675363.1:n.3335A>G | ||
| ENST00000675384.1:c.2116A>G | ENSP00000502114.1:p.Ile706Val | |
| ENST00000675411.1:c.*1817A>G | ENSP00000502140.1:n.*1817A>G | |
| ENST00000675412.1:c.*1820A>G | ENSP00000502332.1:n.*1820A>G | |
| ENST00000675425.1:c.1783A>G | ENSP00000502492.1:p.Ile595Val | |
| ENST00000675456.1:c.1006A>G | ENSP00000502472.1:p.Ile336Val | |
| ENST00000675462.1:c.*1832A>G | ENSP00000502236.1:n.*1832A>G | |
| ENST00000675492.1:c.1783A>G | ENSP00000502720.1:p.Ile595Val | |
| ENST00000675518.1:c.1749+6177A>G | ENSP00000501852.1:n.1749+6177A>G | |
| ENST00000675567.1:c.*221A>G | ENSP00000502659.1:n.*221A>G | |
| ENST00000675611.1:c.955A>G | ENSP00000501564.1:p.Ile319Val | |
| ENST00000675627.1:c.*1820A>G | ENSP00000502501.1:n.*1820A>G | |
| ENST00000675673.1:c.2209A>G | ENSP00000502083.1:p.Ile737Val | |
| ENST00000675710.1:c.1858A>G | ENSP00000501997.1:p.Ile620Val | |
| ENST00000675738.1:c.2110A>G | ENSP00000502320.1:p.Ile704Val | |
| ENST00000675745.1:c.2116A>G | ENSP00000501662.1:p.Ile706Val | |
| ENST00000675780.1:c.2059A>G | ENSP00000502541.1:p.Ile687Val | |
| ENST00000675782.1:c.1858A>G | ENSP00000502776.1:p.Ile620Val | |
| ENST00000675783.1:c.*639A>G | ENSP00000501883.1:n.*639A>G | |
| ENST00000675804.1:c.*200A>G | ENSP00000501826.1:n.*200A>G | |
| ENST00000675835.1:c.2116A>G | ENSP00000501951.1:p.Ile706Val | |
| ENST00000675838.1:c.2082+6177A>G | ENSP00000501593.1:n.2082+6177A>G | |
| ENST00000675899.1:c.2128A>G | ENSP00000502775.1:p.Ile710Val | |
| ENST00000675977.1:c.2170A>G | ENSP00000501671.1:p.Ile724Val | |
| ENST00000676015.1:c.*1820A>G | ENSP00000501762.1:n.*1820A>G | |
| ENST00000676029.1:c.*1820A>G | ENSP00000501704.1:n.*1820A>G | |
| ENST00000676033.1:c.*1820A>G | ENSP00000501844.1:n.*1820A>G | |
| ENST00000676158.1:c.*1715A>G | ENSP00000502658.1:n.*1715A>G | |
| ENST00000676167.1:c.2128A>G | ENSP00000502331.1:p.Ile710Val | |
| ENST00000676172.1:c.2116A>G | ENSP00000501822.1:p.Ile706Val | |
| ENST00000676191.1:c.1009A>G | ENSP00000502381.1:p.Ile337Val | |
| ENST00000676196.1:c.1849A>G | ENSP00000502366.1:p.Ile617Val | |
| ENST00000676202.1:c.*167A>G | ENSP00000502782.1:n.*167A>G | |
| ENST00000676220.1:c.*1817A>G | ENSP00000501629.1:n.*1817A>G | |
| ENST00000676224.1:c.*639A>G | ENSP00000502745.1:n.*639A>G | |
| ENST00000676252.1:c.2116A>G | ENSP00000501586.1:p.Ile706Val | |
| ENST00000676264.1:c.2116A>G | ENSP00000502089.1:p.Ile706Val | |
| ENST00000676291.1:c.*639A>G | ENSP00000502141.1:n.*639A>G | |
| ENST00000676305.1:n.3112A>G | ||
| ENST00000676335.1:c.1858A>G | ENSP00000502243.1:p.Ile620Val | |
| ENST00000676348.1:c.2116A>G | ENSP00000502159.1:p.Ile706Val | |
| ENST00000676374.1:c.2116A>G | ENSP00000502273.1:p.Ile706Val | |
| ENST00000676408.1:c.2128A>G | ENSP00000502077.1:p.Ile710Val | |
| ENST00000676423.1:c.2116A>G | ENSP00000501612.1:p.Ile706Val | |
| ENST00000676458.1:c.2116A>G | ENSP00000501994.1:p.Ile706Val | |
| ENST00000338700.9:c.2197A>G | ENSP00000339659.5:p.Ile733Val | |
| ENST00000437508.6:c.2116A>G | ENSP00000415812.2:p.Ile706Val | |
| NM_001130067.1:c.2116A>G | NP_001123539.1:p.Ile706Val | |
| NM_015271.4:c.2197A>G | NP_056086.2:p.Ile733Val | |
| XM_006714157.1:c.2209A>G | XP_006714220.1:p.Ile737Val | |
| XM_006714158.1:c.2206A>G | XP_006714221.1:p.Ile736Val | |
| XM_006714159.2:c.2182A>G | XP_006714222.1:p.Ile728Val | |
| XM_006714160.1:c.2128A>G | XP_006714223.1:p.Ile710Val | |
| XM_006714161.1:c.2128A>G | XP_006714224.1:p.Ile710Val | |
| XM_006714162.1:c.2128A>G | XP_006714225.1:p.Ile710Val | |
| XM_006714164.1:c.1753A>G | XP_006714227.1:p.Ile585Val | |
| XM_006714165.2:c.1753A>G | XP_006714228.1:p.Ile585Val | |
| XM_011531794.1:c.2179A>G | XP_011530096.1:p.Ile727Val | |
| XM_011531795.1:c.2128A>G | XP_011530097.1:p.Ile710Val | |
| XM_011531796.1:c.2128A>G | XP_011530098.1:p.Ile710Val | |
| XM_011531797.1:c.2128A>G | XP_011530099.1:p.Ile710Val | |
| XM_011531798.1:c.2128A>G | XP_011530100.1:p.Ile710Val | |
| NM_001351054.1:c.2182A>G | NP_001337983.1:p.Ile728Val | |
| NM_001351055.1:c.2179A>G | NP_001337984.1:p.Ile727Val | |
| NM_001351056.1:c.2128A>G | NP_001337985.1:p.Ile710Val | |
| NM_001351057.1:c.1741A>G | NP_001337986.1:p.Ile581Val | |
| XM_006714165.3:c.1753A>G | XP_006714228.1:p.Ile585Val | |
| XM_011531796.3:c.2128A>G | XP_011530098.1:p.Ile710Val | |
| XM_017007943.1:c.2194A>G | XP_016863432.1:p.Ile732Val | |
| XM_017007944.1:c.2116A>G | XP_016863433.1:p.Ile706Val | |
| XM_017007945.1:c.2116A>G | XP_016863434.1:p.Ile706Val | |
| XM_017007946.2:c.2170A>G | XP_016863435.1:p.Ile724Val | |
| XM_017007947.1:c.2167A>G | XP_016863436.1:p.Ile723Val | |
| XM_017007948.2:c.2116A>G | XP_016863437.1:p.Ile706Val | |
| XM_017007949.1:c.2116A>G | XP_016863438.1:p.Ile706Val | |
| XM_017007950.1:c.2116A>G | XP_016863439.1:p.Ile706Val | |
| XM_017007951.1:c.2116A>G | XP_016863440.1:p.Ile706Val | |
| XM_017007952.1:c.2116A>G | XP_016863441.1:p.Ile706Val | |
| XM_017007953.2:c.1753A>G | XP_016863442.1:p.Ile585Val | |
| XM_017007955.1:c.1741A>G | XP_016863444.1:p.Ile581Val | |
| NM_015271.5:c.2197A>G MANE Select | NP_056086.2:p.Ile733Val | |
| NM_001130067.2:c.2116A>G | NP_001123539.1:p.Ile706Val | |
| NM_001351054.2:c.2182A>G | NP_001337983.1:p.Ile728Val | |
| NM_001351055.2:c.2179A>G | NP_001337984.1:p.Ile727Val | |
| NM_001351056.2:c.2128A>G | NP_001337985.1:p.Ile710Val | |
| NM_001351057.2:c.1741A>G | NP_001337986.1:p.Ile581Val | |
| NM_001375488.1:c.2290A>G | NP_001362417.1:p.Ile764Val | |
| NM_001375489.1:c.2287A>G | NP_001362418.1:p.Ile763Val | |
| NM_001375490.1:c.2140A>G | NP_001362419.1:p.Ile714Val | |
| NM_001375491.1:c.2137A>G | NP_001362420.1:p.Ile713Val | |
| NM_001375512.1:c.2116A>G | NP_001362441.1:p.Ile706Val | |
| NM_001375513.1:c.2116A>G | NP_001362442.1:p.Ile706Val | |
| NM_001375514.1:c.2116A>G | NP_001362443.1:p.Ile706Val | |
| NM_001375515.1:c.2116A>G | NP_001362444.1:p.Ile706Val | |
| NM_001375516.1:c.2116A>G | NP_001362445.1:p.Ile706Val | |
| NM_001375517.1:c.2116A>G | NP_001362446.1:p.Ile706Val | |
| NM_001375519.1:c.1864A>G | NP_001362448.1:p.Ile622Val | |
| NM_001375520.1:c.1861A>G | NP_001362449.1:p.Ile621Val | |
| NM_001375522.1:c.1858A>G | NP_001362451.1:p.Ile620Val | |
| NM_001375523.1:c.1858A>G | NP_001362452.1:p.Ile620Val | |
| NM_001375525.1:c.1858A>G | NP_001362454.1:p.Ile620Val |