Linked Data
ClinVar Variation Id:
161502
ClinVar RCV Id:
RCV000149036
dbSNP Id:
rs193920900
COSMIC:
COSM1180037
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95337020C>G , CM000672.2:g.95337020C>G | GRCh38 |
| NC_000010.10:g.97096777C>G , CM000672.1:g.97096777C>G | GRCh37 |
| NC_000010.9:g.97086767C>G | NCBI36 |
| NG_034041.1:g.229401G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647619.2:c.1924+2113G>C | ||
| ENST00000649575.2:c.3989G>C | ENSP00000497106.2:p.Arg1330Pro | |
| ENST00000649911.2:c.2196+2113G>C | ENSP00000497554.2:n.2196+2113G>C | |
| ENST00000371247.7:c.3140G>C MANE Select | ENSP00000360293.2:p.Arg1047Pro | |
| ENST00000649575.1:c.275G>C | ENSP00000497106.1:p.Arg92Pro | |
| ENST00000649911.1:c.195+2113G>C | ENSP00000497554.1:n.195+2113G>C | |
| ENST00000277982.9:c.2932-215G>C | ENSP00000277982.5:n.2932-215G>C | |
| ENST00000306402.10:c.2106+2113G>C | ENSP00000302556.6:n.2106+2113G>C | |
| ENST00000354106.7:c.2775+2113G>C | ENSP00000277984.4:n.2775+2113G>C | |
| ENST00000361941.7:c.3140G>C | ENSP00000355136.3:p.Arg1047Pro | |
| ENST00000371227.8:c.3002G>C | ENSP00000360271.3:p.Arg1001Pro | |
| ENST00000371239.5:c.2196+2113G>C | ENSP00000360283.1:n.2196+2113G>C | |
| ENST00000371241.5:c.1815+2113G>C | ENSP00000360285.1:n.1815+2113G>C | |
| ENST00000371245.7:c.2418+2113G>C | ENSP00000360291.2:n.2418+2113G>C | |
| ENST00000371246.6:c.2932-215G>C | ENSP00000360292.2:n.2932-215G>C | |
| ENST00000371247.6:c.3140G>C | ENSP00000360293.2:p.Arg1047Pro | |
| ENST00000371249.6:c.2211+2113G>C | ENSP00000360295.2:n.2211+2113G>C | |
| ENST00000607232.5:c.3645+2113G>C | ENSP00000475901.1:n.3645+2113G>C | |
| ENST00000634504.1:c.1283+2113G>C | ||
| NM_001034954.1:c.3140G>C | NP_001030126.1:p.Arg1047Pro | |
| NM_001034955.1:c.2932-215G>C | NP_001030127.1:n.2932-215G>C | |
| NM_001034956.1:c.2418+2113G>C | NP_001030128.1:n.2418+2113G>C | |
| NM_001034957.1:c.1983+2113G>C | NP_001030129.1:n.1983+2113G>C | |
| NM_001290294.1:c.3002G>C | NP_001277223.1:p.Arg1001Pro | |
| NM_001290295.1:c.2010+2113G>C | NP_001277224.1:n.2010+2113G>C | |
| NM_001290296.1:c.2775+2113G>C | NP_001277225.1:n.2775+2113G>C | |
| NM_001290297.1:c.2196+2113G>C | NP_001277226.1:n.2196+2113G>C | |
| NM_001290298.1:c.2301+2113G>C | NP_001277227.1:n.2301+2113G>C | |
| NM_006434.2:c.1815+2113G>C | NP_006425.2:n.1815+2113G>C | |
| NM_015385.3:c.2211+2113G>C | NP_056200.1:n.2211+2113G>C | |
| NM_024991.2:c.2106+2113G>C | NP_079267.1:n.2106+2113G>C | |
| XM_006717570.1:c.3857G>C | XP_006717633.1:p.Arg1286Pro | |
| XM_006717574.1:c.3857G>C | XP_006717637.1:p.Arg1286Pro | |
| XM_006717581.1:c.3140G>C | XP_006717644.1:p.Arg1047Pro | |
| XM_006717582.1:c.3582+2113G>C | XP_006717645.1:n.3582+2113G>C | |
| XM_006717585.1:c.3414+2113G>C | XP_006717648.1:n.3414+2113G>C | |
| XM_006717586.1:c.3342+2113G>C | XP_006717649.1:n.3342+2113G>C | |
| XM_006717589.1:c.2775+2113G>C | XP_006717652.1:n.2775+2113G>C | |
| XM_006717590.1:c.2574+2113G>C | XP_006717653.1:n.2574+2113G>C | |
| XM_006717591.1:c.2301+2113G>C | XP_006717654.1:n.2301+2113G>C | |
| XM_006717593.1:c.1983+2113G>C | XP_006717656.1:n.1983+2113G>C | |
| XM_006717594.1:c.1911+2113G>C | XP_006717657.1:n.1911+2113G>C | |
| XM_006717595.1:c.1815+2113G>C | XP_006717658.1:n.1815+2113G>C | |
| XM_011539136.1:c.3857G>C | XP_011537438.1:p.Arg1286Pro | |
| XM_011539137.1:c.3857G>C | XP_011537439.1:p.Arg1286Pro | |
| XM_011539138.1:c.3830G>C | XP_011537440.1:p.Arg1277Pro | |
| XM_011539139.1:c.3827G>C | XP_011537441.1:p.Arg1276Pro | |
| XM_011539140.1:c.3794G>C | XP_011537442.1:p.Arg1265Pro | |
| XM_011539141.1:c.3791G>C | XP_011537443.1:p.Arg1264Pro | |
| XM_011539142.1:c.3782G>C | XP_011537444.1:p.Arg1261Pro | |
| XM_011539143.1:c.3761G>C | XP_011537445.1:p.Arg1254Pro | |
| XM_011539144.1:c.3761G>C | XP_011537446.1:p.Arg1254Pro | |
| XM_011539145.1:c.3761G>C | XP_011537447.1:p.Arg1254Pro | |
| XM_011539146.1:c.3755G>C | XP_011537448.1:p.Arg1252Pro | |
| XM_011539147.1:c.3734G>C | XP_011537449.1:p.Arg1245Pro | |
| XM_011539148.1:c.3734G>C | XP_011537450.1:p.Arg1245Pro | |
| XM_011539149.1:c.3725G>C | XP_011537451.1:p.Arg1242Pro | |
| XM_011539150.1:c.3719G>C | XP_011537452.1:p.Arg1240Pro | |
| XM_011539151.1:c.3689G>C | XP_011537453.1:p.Arg1230Pro | |
| XM_011539152.1:c.3689G>C | XP_011537454.1:p.Arg1230Pro | |
| XM_011539153.1:c.3605G>C | XP_011537455.1:p.Arg1202Pro | |
| XM_011539154.1:c.3488G>C | XP_011537456.1:p.Arg1163Pro | |
| XM_011539155.1:c.3344G>C | XP_011537457.1:p.Arg1115Pro | |
| XM_011539156.1:c.3857G>C | XP_011537458.1:p.Arg1286Pro | |
| XM_011539157.1:c.3821G>C | XP_011537459.1:p.Arg1274Pro | |
| XM_011539158.1:c.3140G>C | XP_011537460.1:p.Arg1047Pro | |
| XM_011539159.1:c.3582+2113G>C | XP_011537461.1:n.3582+2113G>C | |
| XM_011539160.1:c.3044G>C | XP_011537462.1:p.Arg1015Pro | |
| XM_011539161.1:c.3044G>C | XP_011537463.1:p.Arg1015Pro | |
| XM_011539162.1:c.3017G>C | XP_011537464.1:p.Arg1006Pro | |
| XM_011539163.1:c.3330+2113G>C | XP_011537465.1:n.3330+2113G>C | |
| XM_011539164.1:c.2771G>C | XP_011537466.1:p.Arg924Pro | |
| XM_011539165.1:c.2744G>C | XP_011537467.1:p.Arg915Pro | |
| XM_011539166.1:c.2675G>C | XP_011537468.1:p.Arg892Pro | |
| XM_011539167.1:c.2627G>C | XP_011537469.1:p.Arg876Pro | |
| XM_011539168.1:c.1526G>C | XP_011537470.1:p.Arg509Pro | |
| XM_011539169.1:c.1442G>C | XP_011537471.1:p.Arg481Pro | |
| XM_006717589.2:c.2775+2113G>C | XP_006717652.1:n.2775+2113G>C | |
| XM_011539140.2:c.3794G>C | XP_011537442.1:p.Arg1265Pro | |
| XM_011539150.2:c.3719G>C | XP_011537452.1:p.Arg1240Pro | |
| XM_017015500.2:c.3299G>C | XP_016870989.1:p.Arg1100Pro | |
| XM_017015501.2:c.3444+2113G>C | XP_016870990.1:n.3444+2113G>C | |
| XM_017015502.2:c.3351+2113G>C | XP_016870991.1:n.3351+2113G>C | |
| XM_017015503.2:c.3276+2113G>C | XP_016870992.1:n.3276+2113G>C | |
| XM_017015504.2:c.2708G>C | XP_016870993.1:p.Arg903Pro | |
| XM_017015505.2:c.3192+2113G>C | XP_016870994.1:n.3192+2113G>C | |
| XM_017015506.2:c.2633G>C | XP_016870995.1:p.Arg878Pro | |
| XM_017015507.2:c.3183+2113G>C | XP_016870996.1:n.3183+2113G>C | |
| XM_017015508.2:c.2540G>C | XP_016870997.1:p.Arg847Pro | |
| XM_017015509.1:c.2537G>C | XP_016870998.1:p.Arg846Pro | |
| XM_017015510.2:c.3024+2113G>C | XP_016870999.1:n.3024+2113G>C | |
| XM_017015511.2:c.2456G>C | XP_016871000.1:p.Arg819Pro | |
| XM_017015512.1:c.2342G>C | XP_016871001.1:p.Arg781Pro | |
| XM_017015513.1:c.2333G>C | XP_016871002.1:p.Arg778Pro | |
| XM_017015514.1:c.2249G>C | XP_016871003.1:p.Arg750Pro | |
| XM_017015515.2:c.2634+2113G>C | XP_016871004.1:n.2634+2113G>C | |
| XM_017015516.2:c.2607+2113G>C | XP_016871005.1:n.2607+2113G>C | |
| XM_017015517.2:c.2550+2113G>C | XP_016871006.1:n.2550+2113G>C | |
| XM_017015518.1:c.2538+2113G>C | XP_016871007.1:n.2538+2113G>C | |
| XM_017015520.2:c.2475+2113G>C | XP_016871009.1:n.2475+2113G>C | |
| XM_017015521.1:c.2463+2113G>C | XP_016871010.1:n.2463+2113G>C | |
| XM_017015522.2:c.2448+2113G>C | XP_016871011.1:n.2448+2113G>C | |
| XM_017015523.1:c.2379+2113G>C | XP_016871012.1:n.2379+2113G>C | |
| XM_017015524.1:c.2352+2113G>C | XP_016871013.1:n.2352+2113G>C | |
| XM_017015525.1:c.2337+2113G>C | XP_016871014.1:n.2337+2113G>C | |
| XM_017015526.2:c.2265+2113G>C | XP_016871015.1:n.2265+2113G>C | |
| XM_017015527.1:c.2262+2113G>C | XP_016871016.1:n.2262+2113G>C | |
| XM_017015528.2:c.2238+2113G>C | XP_016871017.1:n.2238+2113G>C | |
| XM_017015529.2:c.2190+2113G>C | XP_016871018.1:n.2190+2113G>C | |
| XM_017015530.2:c.2181+2113G>C | XP_016871019.1:n.2181+2113G>C | |
| XM_017015531.1:c.2169+2113G>C | XP_016871020.1:n.2169+2113G>C | |
| XM_017015532.2:c.2163+2113G>C | XP_016871021.1:n.2163+2113G>C | |
| XM_017015533.1:c.2142+2113G>C | XP_016871022.1:n.2142+2113G>C | |
| XM_017015534.2:c.2097+2113G>C | XP_016871023.1:n.2097+2113G>C | |
| XM_017015535.1:c.2094+2113G>C | XP_016871024.1:n.2094+2113G>C | |
| XM_017015536.1:c.2085+2113G>C | XP_016871025.1:n.2085+2113G>C | |
| XM_017015537.2:c.2079+2113G>C | XP_016871026.1:n.2079+2113G>C | |
| XM_017015539.1:c.2067+2113G>C | XP_016871028.1:n.2067+2113G>C | |
| XM_017015540.1:c.2058+2113G>C | XP_016871029.1:n.2058+2113G>C | |
| XM_024447769.1:c.3077G>C | XP_024303537.1:p.Arg1026Pro | |
| XM_024447770.1:c.2750G>C | XP_024303538.1:p.Arg917Pro | |
| NM_001034954.2:c.3140G>C | NP_001030126.2:p.Arg1047Pro | |
| NM_001034955.2:c.2932-215G>C | NP_001030127.2:n.2932-215G>C | |
| NM_001034956.2:c.2418+2113G>C | NP_001030128.2:n.2418+2113G>C | |
| NM_001034957.2:c.1983+2113G>C | NP_001030129.2:n.1983+2113G>C | |
| NM_001290294.2:c.3002G>C | NP_001277223.2:p.Arg1001Pro | |
| NM_001290295.2:c.2010+2113G>C | NP_001277224.2:n.2010+2113G>C | |
| NM_001290296.2:c.2775+2113G>C | NP_001277225.2:n.2775+2113G>C | |
| NM_001290297.2:c.2196+2113G>C | NP_001277226.2:n.2196+2113G>C | |
| NM_001290298.2:c.2301+2113G>C | NP_001277227.2:n.2301+2113G>C | |
| NM_001377197.1:c.2607+2113G>C | NP_001364126.1:n.2607+2113G>C | |
| NM_001377198.1:c.2538+2113G>C | NP_001364127.1:n.2538+2113G>C | |
| NM_001377199.1:c.2475+2113G>C | NP_001364128.1:n.2475+2113G>C | |
| NM_001377200.1:c.2463+2113G>C | NP_001364129.1:n.2463+2113G>C | |
| NM_001377201.1:c.2448+2113G>C | NP_001364130.1:n.2448+2113G>C | |
| NM_001377202.1:c.2352+2113G>C | NP_001364131.1:n.2352+2113G>C | |
| NM_001377203.1:c.2265+2113G>C | NP_001364132.1:n.2265+2113G>C | |
| NM_001377204.1:c.2262+2113G>C | NP_001364133.1:n.2262+2113G>C | |
| NM_001377205.1:c.2238+2113G>C | NP_001364134.1:n.2238+2113G>C | |
| NM_001377206.1:c.2190+2113G>C | NP_001364135.1:n.2190+2113G>C | |
| NM_001377207.1:c.2169+2113G>C | NP_001364136.1:n.2169+2113G>C | |
| NM_001377208.1:c.2097+2113G>C | NP_001364137.1:n.2097+2113G>C | |
| NM_001377209.1:c.2094+2113G>C | NP_001364138.1:n.2094+2113G>C | |
| NM_006434.3:c.1815+2113G>C | NP_006425.3:n.1815+2113G>C | |
| NM_015385.4:c.2211+2113G>C | NP_056200.2:n.2211+2113G>C | |
| NM_024991.3:c.2106+2113G>C | NP_079267.2:n.2106+2113G>C | |
| NM_001034954.3:c.3140G>C MANE Select | NP_001030126.2:p.Arg1047Pro | |
| NM_001034957.3:c.1983+2113G>C | NP_001030129.2:n.1983+2113G>C | |
| NM_001290297.3:c.2196+2113G>C | NP_001277226.2:n.2196+2113G>C | |
| NM_001290298.3:c.2301+2113G>C | NP_001277227.2:n.2301+2113G>C | |
| NM_001384447.1:c.3950G>C | NP_001371376.1:p.Arg1317Pro | |
| NM_001384448.1:c.3989G>C | NP_001371377.1:p.Arg1330Pro | |
| NM_001384449.1:c.4016G>C | NP_001371378.1:p.Arg1339Pro | |
| NM_001384450.1:c.3950G>C | NP_001371379.1:p.Arg1317Pro | |
| NM_001384451.1:c.3675+2113G>C | NP_001371380.1:n.3675+2113G>C | |
| NM_001384452.1:c.4016G>C | NP_001371381.1:p.Arg1339Pro | |
| NM_001384453.1:c.3741+2113G>C | NP_001371382.1:n.3741+2113G>C | |
| NM_001384454.1:c.3741+2113G>C | NP_001371383.1:n.3741+2113G>C | |
| NM_001384455.1:c.2196+2113G>C | NP_001371384.1:n.2196+2113G>C | |
| NM_001384456.1:c.2196+2113G>C | NP_001371385.1:n.2196+2113G>C | |
| NM_001384457.1:c.2196+2113G>C | NP_001371386.1:n.2196+2113G>C | |
| NM_001384458.1:c.2466+2113G>C | NP_001371387.1:n.2466+2113G>C | |
| NM_001384459.1:c.2457+2113G>C | NP_001371388.1:n.2457+2113G>C | |
| NM_001384460.1:c.2394+2113G>C | NP_001371389.1:n.2394+2113G>C | |
| NM_001384461.1:c.2298+2113G>C | NP_001371390.1:n.2298+2113G>C | |
| NM_001384462.1:c.2271+2113G>C | NP_001371391.1:n.2271+2113G>C | |
| NM_001384463.1:c.2067+2113G>C | NP_001371392.1:n.2067+2113G>C | |
| NM_001384464.1:c.2055+2113G>C | NP_001371393.1:n.2055+2113G>C | |
| NM_001384465.1:c.2262+2113G>C | NP_001371394.1:n.2262+2113G>C | |
| NM_006434.4:c.1815+2113G>C | NP_006425.3:n.1815+2113G>C |