Linked Data
ClinVar Variation Id:
215487
dbSNP Id:
rs35724152
ExAC:
4:114294464 G / A
gnomAD v2:
4-114294464-G-A
gnomAD v3:
4-113373308-G-A
gnomAD v4:
4-113373308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.113373308G>A , CM000666.2:g.113373308G>A | GRCh38 |
| NC_000004.11:g.114294464G>A , CM000666.1:g.114294464G>A | GRCh37 |
| NC_000004.10:g.114513913G>A | NCBI36 |
| NG_009006.2:g.560226G>A , LRG_327:g.560226G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506344.6:c.11952G>A | ENSP00000422888.2:p.Arg3984= | |
| ENST00000705785.1:c.5544G>A | ENSP00000516169.1:p.Arg1848= | |
| ENST00000510275.8:c.2037+3503G>A | ENSP00000421023.4:n.2037+3503G>A | |
| ENST00000612754.2:c.2643G>A | ENSP00000482888.2:p.Arg881= | |
| ENST00000681990.1:n.3100G>A | ||
| ENST00000682049.1:n.2308G>A | ||
| ENST00000682959.1:n.6336G>A | ||
| ENST00000683389.1:n.1881G>A | ||
| ENST00000683777.1:n.2521G>A | ||
| ENST00000683826.1:n.3735+3503G>A | ||
| ENST00000683893.1:n.1824G>A | ||
| ENST00000683908.1:n.2217G>A | ||
| ENST00000683972.1:n.8563G>A | ||
| ENST00000684225.1:n.3189G>A | ||
| ENST00000684230.1:n.3472+135G>A | ||
| ENST00000684378.1:n.4457G>A | ||
| ENST00000684470.1:n.3700G>A | ||
| ENST00000684730.1:n.5106G>A | ||
| ENST00000357077.9:c.11718G>A MANE Select | ENSP00000349588.4:p.Arg3906= | |
| ENST00000503423.6:c.11556G>A | ENSP00000421011.2:p.Arg3852= | |
| ENST00000505342.6:c.2850G>A | ENSP00000422498.2:p.Arg950= | |
| ENST00000510275.7:c.1266G>A | ENSP00000421023.3:p.Arg422= | |
| ENST00000671704.1:c.5277G>A | ENSP00000500926.1:p.Arg1759= | |
| ENST00000671727.1:c.5457G>A | ENSP00000500102.1:p.Arg1819= | |
| ENST00000671756.1:c.5277+135G>A | ENSP00000500712.1:n.5277+135G>A | |
| ENST00000671762.1:c.5592G>A | ENSP00000500954.1:p.Arg1864= | |
| ENST00000671793.1:c.5493G>A | ENSP00000499928.1:p.Arg1831= | |
| ENST00000671809.1:c.11592G>A | ENSP00000500872.1:p.Arg3864= | |
| ENST00000671825.1:c.5400G>A | ENSP00000500459.1:p.Arg1800= | |
| ENST00000671854.1:c.5202G>A | ENSP00000500833.1:p.Arg1734= | |
| ENST00000671863.1:c.*956G>A | ENSP00000500855.1:n.*956G>A | |
| ENST00000671882.1:c.11428-1456G>A | ENSP00000499887.1:n.11428-1456G>A | |
| ENST00000671893.1:c.5055+135G>A | ENSP00000499986.1:n.5055+135G>A | |
| ENST00000671906.1:c.11532G>A | ENSP00000499953.1:p.Arg3844= | |
| ENST00000671951.1:c.5178G>A | ENSP00000500528.1:p.Arg1726= | |
| ENST00000671971.1:c.11763G>A | ENSP00000499832.1:p.Arg3921= | |
| ENST00000672045.1:c.5301G>A | ENSP00000499959.1:p.Arg1767= | |
| ENST00000672068.1:c.11649G>A | ENSP00000499902.1:p.Arg3883= | |
| ENST00000672088.1:c.5277G>A | ENSP00000499837.1:p.Arg1759= | |
| ENST00000672090.1:c.11556G>A | ENSP00000500540.1:p.Arg3852= | |
| ENST00000672177.1:c.5313G>A | ENSP00000500918.1:p.Arg1771= | |
| ENST00000672209.1:c.11649G>A | ENSP00000499982.1:p.Arg3883= | |
| ENST00000672221.1:c.5298G>A | ENSP00000500473.1:p.Arg1766= | |
| ENST00000672240.1:c.11799G>A | ENSP00000500548.1:p.Arg3933= | |
| ENST00000672246.1:c.5262+135G>A | ENSP00000499990.1:n.5262+135G>A | |
| ENST00000672251.1:c.11520G>A | ENSP00000500580.1:p.Arg3840= | |
| ENST00000672312.1:c.5301G>A | ENSP00000500378.1:p.Arg1767= | |
| ENST00000672315.1:c.5292+3503G>A | ENSP00000500780.1:n.5292+3503G>A | |
| ENST00000672350.1:c.5238G>A | ENSP00000500420.1:p.Arg1746= | |
| ENST00000672356.1:c.5178G>A | ENSP00000500544.1:p.Arg1726= | |
| ENST00000672362.1:c.5529G>A | ENSP00000500522.1:p.Arg1843= | |
| ENST00000672366.1:c.5364G>A | ENSP00000500937.1:p.Arg1788= | |
| ENST00000672402.1:c.5493G>A | ENSP00000500881.1:p.Arg1831= | |
| ENST00000672411.1:c.3003+135G>A | ENSP00000499979.1:n.3003+135G>A | |
| ENST00000672502.1:c.11619G>A | ENSP00000499870.1:p.Arg3873= | |
| ENST00000672684.1:c.5202G>A | ENSP00000499943.1:p.Arg1734= | |
| ENST00000672696.1:c.5469+135G>A | ENSP00000499828.1:n.5469+135G>A | |
| ENST00000672731.1:c.5253+135G>A | ENSP00000500908.1:n.5253+135G>A | |
| ENST00000672759.1:c.5178G>A | ENSP00000499881.1:p.Arg1726= | |
| ENST00000672779.1:c.5508G>A | ENSP00000499869.1:p.Arg1836= | |
| ENST00000672793.1:c.5394G>A | ENSP00000500150.1:p.Arg1798= | |
| ENST00000672830.1:c.11655G>A | ENSP00000500222.1:p.Arg3885= | |
| ENST00000672854.1:c.5265G>A | ENSP00000500311.1:p.Arg1755= | |
| ENST00000672880.1:c.5301G>A | ENSP00000500866.1:p.Arg1767= | |
| ENST00000672915.1:c.2850G>A | ENSP00000500622.1:p.Arg950= | |
| ENST00000672930.1:c.11532+135G>A | ENSP00000499913.1:n.11532+135G>A | |
| ENST00000672934.1:c.11457G>A | ENSP00000500645.1:p.Arg3819= | |
| ENST00000672955.1:c.5277G>A | ENSP00000500527.1:p.Arg1759= | |
| ENST00000672965.1:c.5337G>A | ENSP00000499891.1:p.Arg1779= | |
| ENST00000672986.1:c.4881G>A | ENSP00000499967.1:p.Arg1627= | |
| ENST00000672990.1:c.5337G>A | ENSP00000500275.1:p.Arg1779= | |
| ENST00000673044.1:c.5292+3503G>A | ENSP00000500933.1:n.5292+3503G>A | |
| ENST00000673048.1:c.3012G>A | ENSP00000500832.1:p.Arg1004= | |
| ENST00000673109.1:c.11433G>A | ENSP00000500265.1:p.Arg3811= | |
| ENST00000673231.1:c.3027G>A | ENSP00000500111.1:p.Arg1009= | |
| ENST00000673240.1:c.5508G>A | ENSP00000499996.1:p.Arg1836= | |
| ENST00000673255.1:c.5301G>A | ENSP00000500423.1:p.Arg1767= | |
| ENST00000673298.1:c.11556G>A | ENSP00000500245.1:p.Arg3852= | |
| ENST00000673334.1:c.11448+3503G>A | ENSP00000500854.1:n.11448+3503G>A | |
| ENST00000673353.1:c.2991G>A | ENSP00000500007.1:p.Arg997= | |
| ENST00000673363.1:c.11664G>A | ENSP00000500539.1:p.Arg3888= | |
| ENST00000673430.1:c.5394G>A | ENSP00000500269.1:p.Arg1798= | |
| ENST00000673453.1:c.5298+135G>A | ENSP00000500112.1:n.5298+135G>A | |
| ENST00000673536.1:c.4971G>A | ENSP00000500524.1:p.Arg1657= | |
| ENST00000673538.1:c.*956G>A | ENSP00000500842.1:n.*956G>A | |
| ENST00000673546.1:c.5238G>A | ENSP00000500843.1:p.Arg1746= | |
| ENST00000673555.1:c.11625+135G>A | ENSP00000500947.1:n.11625+135G>A | |
| ENST00000673573.1:c.11493G>A | ENSP00000500883.1:p.Arg3831= | |
| ENST00000264366.10:c.11619G>A | ENSP00000264366.6:p.Arg3873= | |
| ENST00000357077.8:c.11718G>A | ENSP00000349588.4:p.Arg3906= | |
| ENST00000394537.7:c.5463G>A | ENSP00000378044.3:p.Arg1821= | |
| ENST00000505342.5:c.2748G>A | ENSP00000422498.1:p.Arg916= | |
| ENST00000506722.5:c.5436G>A | ENSP00000421067.1:p.Arg1812= | |
| ENST00000509550.5:c.2991G>A | ENSP00000426944.1:p.Arg997= | |
| ENST00000510275.6:c.1512G>A | ENSP00000421023.2:p.Arg504= | |
| ENST00000514960.5:c.2560G>A | ||
| ENST00000612754.1:c.*3079G>A | ENSP00000482888.1:n.*3079G>A | |
| NM_001127493.1:c.5436G>A , LRG_327t2:c.5436G>A | NP_001120965.1:p.Arg1812= | |
| NM_001148.4:c.11718G>A , LRG_327t1:c.11718G>A | NP_001139.3:p.Arg3906= | |
| NM_020977.3:c.5463G>A | NP_066187.2:p.Arg1821= | |
| XM_005262942.3:c.11844G>A | XP_005262999.1:p.Arg3948= | |
| XM_005262945.1:c.11619G>A | XP_005263002.1:p.Arg3873= | |
| XM_005262948.3:c.5460G>A | XP_005263005.1:p.Arg1820= | |
| XM_006714188.2:c.11898G>A | XP_006714251.1:p.Arg3966= | |
| XM_006714189.2:c.11862G>A | XP_006714252.1:p.Arg3954= | |
| XM_006714190.2:c.5610G>A | XP_006714253.1:p.Arg1870= | |
| XM_006714191.2:c.5550G>A | XP_006714254.1:p.Arg1850= | |
| XM_006714192.2:c.5574G>A | XP_006714255.1:p.Arg1858= | |
| XM_006714193.2:c.5550G>A | XP_006714256.1:p.Arg1850= | |
| XM_006714194.2:c.11838G>A | XP_006714257.1:p.Arg3946= | |
| XM_011531891.1:c.11883G>A | XP_011530193.1:p.Arg3961= | |
| NM_001127493.2:c.5436G>A | NP_001120965.1:p.Arg1812= | |
| NM_001148.5:c.11718G>A | NP_001139.3:p.Arg3906= | |
| NM_001354225.1:c.5475G>A | NP_001341154.1:p.Arg1825= | |
| NM_001354228.1:c.5457G>A | NP_001341157.1:p.Arg1819= | |
| NM_001354230.1:c.5442G>A | NP_001341159.1:p.Arg1814= | |
| NM_001354231.1:c.5598G>A | NP_001341160.1:p.Arg1866= | |
| NM_001354232.1:c.5592G>A | NP_001341161.1:p.Arg1864= | |
| NM_001354235.1:c.5553G>A | NP_001341164.1:p.Arg1851= | |
| NM_001354236.1:c.5361G>A | NP_001341165.1:p.Arg1787= | |
| NM_001354237.1:c.5541G>A | NP_001341166.1:p.Arg1847= | |
| NM_001354239.1:c.5526G>A | NP_001341168.1:p.Arg1842= | |
| NM_001354240.1:c.5508G>A | NP_001341169.1:p.Arg1836= | |
| NM_001354241.1:c.5508G>A | NP_001341170.1:p.Arg1836= | |
| NM_001354242.1:c.5505G>A | NP_001341171.1:p.Arg1835= | |
| NM_001354243.1:c.5493G>A | NP_001341172.1:p.Arg1831= | |
| NM_001354244.1:c.5490G>A | NP_001341173.1:p.Arg1830= | |
| NM_001354245.1:c.5301G>A | NP_001341174.1:p.Arg1767= | |
| NM_001354246.1:c.5460G>A | NP_001341175.1:p.Arg1820= | |
| NM_001354249.1:c.5277G>A | NP_001341178.1:p.Arg1759= | |
| NM_001354252.1:c.5433G>A | NP_001341181.1:p.Arg1811= | |
| NM_001354253.1:c.5238G>A | NP_001341182.1:p.Arg1746= | |
| NM_001354254.1:c.5412G>A | NP_001341183.1:p.Arg1804= | |
| NM_001354255.1:c.5400G>A | NP_001341184.1:p.Arg1800= | |
| NM_001354256.1:c.5397G>A | NP_001341185.1:p.Arg1799= | |
| NM_001354257.1:c.5202G>A | NP_001341186.1:p.Arg1734= | |
| NM_001354258.1:c.5364G>A | NP_001341187.1:p.Arg1788= | |
| NM_001354260.1:c.5178G>A | NP_001341189.1:p.Arg1726= | |
| NM_001354261.1:c.5322G>A | NP_001341190.1:p.Arg1774= | |
| NM_001354262.1:c.5301G>A | NP_001341191.1:p.Arg1767= | |
| NM_001354264.1:c.5298G>A | NP_001341193.1:p.Arg1766= | |
| NM_001354265.1:c.5436+135G>A | NP_001341194.1:n.5436+135G>A | |
| NM_001354266.1:c.5277G>A | NP_001341195.1:p.Arg1759= | |
| NM_001354267.1:c.5277G>A | NP_001341196.1:p.Arg1759= | |
| NM_001354268.1:c.5265G>A | NP_001341197.1:p.Arg1755= | |
| NM_001354269.1:c.5250G>A | NP_001341198.1:p.Arg1750= | |
| NM_001354270.1:c.5238G>A | NP_001341199.1:p.Arg1746= | |
| NM_001354271.1:c.5178G>A | NP_001341200.1:p.Arg1726= | |
| NM_001354272.1:c.5310+135G>A | NP_001341201.1:n.5310+135G>A | |
| NM_001354273.1:c.5163G>A | NP_001341202.1:p.Arg1721= | |
| NM_001354274.1:c.5298+135G>A | NP_001341203.1:n.5298+135G>A | |
| NM_001354275.1:c.5277+135G>A | NP_001341204.1:n.5277+135G>A | |
| NM_001354276.1:c.5253+135G>A | NP_001341205.1:n.5253+135G>A | |
| NM_001354277.1:c.5055+135G>A | NP_001341206.1:n.5055+135G>A | |
| NM_001354278.1:c.2991G>A | NP_001341207.1:p.Arg997= | |
| NM_001354279.1:c.3027G>A | NP_001341208.1:p.Arg1009= | |
| NM_001354280.1:c.3012G>A | NP_001341209.1:p.Arg1004= | |
| NM_001354281.1:c.2991G>A | NP_001341210.1:p.Arg997= | |
| NM_001354282.1:c.3003+135G>A | NP_001341211.1:n.3003+135G>A | |
| NM_020977.4:c.5463G>A | NP_066187.2:p.Arg1821= | |
| XM_005262945.3:c.11619G>A | XP_005263002.1:p.Arg3873= | |
| XM_017008067.1:c.11952G>A | XP_016863556.1:p.Arg3984= | |
| XM_017008069.1:c.11928G>A | XP_016863558.1:p.Arg3976= | |
| XM_017008071.2:c.11838G>A | XP_016863560.1:p.Arg3946= | |
| XM_017008072.2:c.11814G>A | XP_016863561.1:p.Arg3938= | |
| XM_017008073.2:c.11811G>A | XP_016863562.1:p.Arg3937= | |
| XM_017008074.2:c.11784G>A | XP_016863563.1:p.Arg3928= | |
| XM_017008075.2:c.11748G>A | XP_016863564.1:p.Arg3916= | |
| XM_017008076.2:c.11718G>A | XP_016863565.1:p.Arg3906= | |
| XM_017008077.2:c.11625G>A | XP_016863566.1:p.Arg3875= | |
| XM_017008078.2:c.5463G>A | XP_016863567.1:p.Arg1821= | |
| XM_017008080.2:c.5313G>A | XP_016863569.1:p.Arg1771= | |
| XM_024454016.1:c.11847G>A | XP_024309784.1:p.Arg3949= | |
| XM_024454017.1:c.5592G>A | XP_024309785.1:p.Arg1864= | |
| XM_024454018.1:c.5457G>A | XP_024309786.1:p.Arg1819= | |
| XM_024454019.1:c.5442G>A | XP_024309787.1:p.Arg1814= | |
| XM_024454020.1:c.5364G>A | XP_024309788.1:p.Arg1788= | |
| XM_024454021.1:c.5361G>A | XP_024309789.1:p.Arg1787= | |
| XM_024454022.1:c.5301G>A | XP_024309790.1:p.Arg1767= | |
| XM_024454023.1:c.5163G>A | XP_024309791.1:p.Arg1721= | |
| NM_001148.6:c.11718G>A MANE Select | NP_001139.3:p.Arg3906= | |
| NM_001127493.3:c.5436G>A | NP_001120965.1:p.Arg1812= | |
| NM_001354225.2:c.5475G>A | NP_001341154.1:p.Arg1825= | |
| NM_001354228.2:c.5457G>A | NP_001341157.1:p.Arg1819= | |
| NM_001354230.2:c.5442G>A | NP_001341159.1:p.Arg1814= | |
| NM_001354231.2:c.5598G>A | NP_001341160.1:p.Arg1866= | |
| NM_001354232.2:c.5592G>A | NP_001341161.1:p.Arg1864= | |
| NM_001354235.2:c.5553G>A | NP_001341164.1:p.Arg1851= | |
| NM_001354236.2:c.5361G>A | NP_001341165.1:p.Arg1787= | |
| NM_001354237.2:c.5541G>A | NP_001341166.1:p.Arg1847= | |
| NM_001354239.2:c.5526G>A | NP_001341168.1:p.Arg1842= | |
| NM_001354240.2:c.5508G>A | NP_001341169.1:p.Arg1836= | |
| NM_001354241.2:c.5508G>A | NP_001341170.1:p.Arg1836= | |
| NM_001354242.2:c.5505G>A | NP_001341171.1:p.Arg1835= | |
| NM_001354243.2:c.5493G>A | NP_001341172.1:p.Arg1831= | |
| NM_001354244.2:c.5490G>A | NP_001341173.1:p.Arg1830= | |
| NM_001354245.2:c.5301G>A | NP_001341174.1:p.Arg1767= | |
| NM_001354246.2:c.5460G>A | NP_001341175.1:p.Arg1820= | |
| NM_001354249.2:c.5277G>A | NP_001341178.1:p.Arg1759= | |
| NM_001354252.2:c.5433G>A | NP_001341181.1:p.Arg1811= | |
| NM_001354253.2:c.5238G>A | NP_001341182.1:p.Arg1746= | |
| NM_001354254.2:c.5412G>A | NP_001341183.1:p.Arg1804= | |
| NM_001354255.2:c.5400G>A | NP_001341184.1:p.Arg1800= | |
| NM_001354256.2:c.5397G>A | NP_001341185.1:p.Arg1799= | |
| NM_001354257.2:c.5202G>A | NP_001341186.1:p.Arg1734= | |
| NM_001354258.2:c.5364G>A | NP_001341187.1:p.Arg1788= | |
| NM_001354260.2:c.5178G>A | NP_001341189.1:p.Arg1726= | |
| NM_001354261.2:c.5322G>A | NP_001341190.1:p.Arg1774= | |
| NM_001354262.2:c.5301G>A | NP_001341191.1:p.Arg1767= | |
| NM_001354264.2:c.5298G>A | NP_001341193.1:p.Arg1766= | |
| NM_001354265.2:c.5436+135G>A | NP_001341194.1:n.5436+135G>A | |
| NM_001354266.2:c.5277G>A | NP_001341195.1:p.Arg1759= | |
| NM_001354267.2:c.5277G>A | NP_001341196.1:p.Arg1759= | |
| NM_001354268.2:c.5265G>A | NP_001341197.1:p.Arg1755= | |
| NM_001354269.3:c.5250G>A | NP_001341198.1:p.Arg1750= | |
| NM_001354270.2:c.5238G>A | NP_001341199.1:p.Arg1746= | |
| NM_001354271.2:c.5178G>A | NP_001341200.1:p.Arg1726= | |
| NM_001354272.2:c.5310+135G>A | NP_001341201.1:n.5310+135G>A | |
| NM_001354273.2:c.5163G>A | NP_001341202.1:p.Arg1721= | |
| NM_001354274.2:c.5298+135G>A | NP_001341203.1:n.5298+135G>A | |
| NM_001354275.2:c.5277+135G>A | NP_001341204.1:n.5277+135G>A | |
| NM_001354276.2:c.5253+135G>A | NP_001341205.1:n.5253+135G>A | |
| NM_001354277.2:c.5055+135G>A | NP_001341206.1:n.5055+135G>A | |
| NM_001354278.2:c.2991G>A | NP_001341207.1:p.Arg997= | |
| NM_001354279.2:c.3027G>A | NP_001341208.1:p.Arg1009= | |
| NM_001354280.2:c.3012G>A | NP_001341209.1:p.Arg1004= | |
| NM_001354281.2:c.2991G>A | NP_001341210.1:p.Arg997= | |
| NM_001354282.2:c.3003+135G>A | NP_001341211.1:n.3003+135G>A | |
| NM_001386142.1:c.11484G>A | NP_001373071.1:p.Arg3828= | |
| NM_001386143.1:c.5493G>A | NP_001373072.1:p.Arg1831= | |
| NM_001386144.1:c.5601G>A | NP_001373073.1:p.Arg1867= | |
| NM_001386146.1:c.5337G>A | NP_001373075.1:p.Arg1779= | |
| NM_001386147.1:c.5289G>A | NP_001373076.1:p.Arg1763= | |
| NM_001386148.2:c.5448G>A | NP_001373077.1:p.Arg1816= | |
| NM_001386149.1:c.5244G>A | NP_001373078.1:p.Arg1748= | |
| NM_001386150.1:c.5337G>A | NP_001373079.1:p.Arg1779= | |
| NM_001386151.1:c.5271G>A | NP_001373080.1:p.Arg1757= | |
| NM_001386152.1:c.5412+3503G>A | NP_001373081.1:n.5412+3503G>A | |
| NM_001386153.1:c.5244G>A | NP_001373082.1:p.Arg1748= | |
| NM_001386154.1:c.5229G>A | NP_001373083.1:p.Arg1743= | |
| NM_001386156.1:c.5202G>A | NP_001373085.1:p.Arg1734= | |
| NM_001386157.1:c.5079G>A | NP_001373086.1:p.Arg1693= | |
| NM_001386158.1:c.4980G>A | NP_001373087.1:p.Arg1660= | |
| NM_001386160.1:c.5307G>A | NP_001373089.1:p.Arg1769= | |
| NM_001386161.1:c.5397G>A | NP_001373090.1:p.Arg1799= | |
| NM_001386162.1:c.5253+135G>A | NP_001373091.1:n.5253+135G>A | |
| NM_001386166.1:c.8118G>A | NP_001373095.1:p.Arg2706= | |
| NM_001386167.1:c.1956G>A | NP_001373096.1:p.Arg652= | |
| NM_001386174.1:c.11952G>A | NP_001373103.1:p.Arg3984= | |
| NM_001386175.1:c.11928G>A | NP_001373104.1:p.Arg3976= | |
| NM_001386186.2:c.5448G>A | NP_001373115.1:p.Arg1816= | |
| NM_001386187.2:c.5328G>A | NP_001373116.1:p.Arg1776= | |
| NM_020977.5:c.5463G>A | NP_066187.2:p.Arg1821= |