Linked Data
ClinVar Variation Id:
1619468
ClinVar RCV Id:
RCV002082349
dbSNP Id:
rs2133401318
gnomAD v4:
11-17395693-G-A
MyVariant Identifiers:
chr11:g.17417240G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395693G>A , CM000673.2:g.17395693G>A | GRCh38 |
| NC_000011.9:g.17417240G>A , CM000673.1:g.17417240G>A | GRCh37 |
| NC_000011.8:g.17373816G>A | NCBI36 |
| NG_008867.1:g.86210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3825C>T | ||
| ENST00000528374.2:c.815C>T | ||
| ENST00000529967.6:n.2563C>T | ||
| ENST00000532220.2:n.3457C>T | ||
| ENST00000642611.2:n.5557C>T | ||
| ENST00000644057.2:n.800C>T | ||
| ENST00000645004.2:n.1723C>T | ||
| ENST00000682051.1:n.4386C>T | ||
| ENST00000682110.1:n.4439C>T | ||
| ENST00000682140.1:c.*10C>T | ENSP00000507829.1:n.*10C>T | |
| ENST00000682185.1:n.5529C>T | ||
| ENST00000682204.1:c.*2362C>T | ENSP00000507094.1:n.*2362C>T | |
| ENST00000682215.1:n.4806C>T | ||
| ENST00000682288.1:c.*2655C>T | ENSP00000507506.1:n.*2655C>T | |
| ENST00000682442.1:n.4659C>T | ||
| ENST00000682528.1:n.4516C>T | ||
| ENST00000682673.1:n.4383C>T | ||
| ENST00000682805.1:n.4844C>T | ||
| ENST00000682965.1:c.*646C>T | ENSP00000508229.1:n.*646C>T | |
| ENST00000683093.1:n.5523C>T | ||
| ENST00000683136.1:c.4107C>T | ENSP00000507768.1:p.Asp1369= | |
| ENST00000683153.1:n.4481C>T | ||
| ENST00000683365.1:n.4541C>T | ||
| ENST00000683377.1:n.4439C>T | ||
| ENST00000683456.1:c.*1361C>T | ENSP00000508318.1:n.*1361C>T | |
| ENST00000683522.1:n.4439C>T | ||
| ENST00000683562.1:c.*2393C>T | ENSP00000508265.1:n.*2393C>T | |
| ENST00000683693.1:n.6004C>T | ||
| ENST00000683725.1:c.4224C>T | ENSP00000507496.1:p.Asp1408= | |
| ENST00000684010.1:n.4434C>T | ||
| ENST00000684157.1:n.5424C>T | ||
| ENST00000684253.1:n.4342C>T | ||
| ENST00000684288.1:c.*2396C>T | ENSP00000507143.1:n.*2396C>T | |
| ENST00000684313.1:n.3871C>T | ||
| ENST00000684332.1:n.4512C>T | ||
| ENST00000684371.1:n.4545C>T | ||
| ENST00000684404.1:n.5467C>T | ||
| ENST00000684442.1:n.4663C>T | ||
| ENST00000684555.1:c.*2436C>T | ENSP00000507705.1:n.*2436C>T | |
| ENST00000684571.1:c.4065C>T | ENSP00000506935.1:p.Asp1355= | |
| ENST00000684593.1:c.*3929C>T | ENSP00000507005.1:n.*3929C>T | |
| ENST00000684711.1:c.*2620C>T | ENSP00000506841.1:n.*2620C>T | |
| ENST00000302539.9:c.4227C>T | ENSP00000303960.4:p.Asp1409= | |
| ENST00000389817.8:c.4224C>T MANE Select | ENSP00000374467.4:p.Asp1408= | |
| ENST00000642271.1:c.4221C>T | ENSP00000493749.1:p.Asp1407= | |
| ENST00000642579.1:c.2278C>T | ||
| ENST00000642611.1:n.5442C>T | ||
| ENST00000642902.1:c.4006C>T | ||
| ENST00000643260.1:c.4224C>T | ENSP00000494450.1:p.Asp1408= | |
| ENST00000643562.1:c.*2346C>T | ENSP00000496124.1:n.*2346C>T | |
| ENST00000643925.1:c.2864C>T | ||
| ENST00000644057.1:n.301C>T | ||
| ENST00000644484.1:c.*3610C>T | ENSP00000493558.1:n.*3610C>T | |
| ENST00000644675.1:c.*2396C>T | ENSP00000494567.1:n.*2396C>T | |
| ENST00000644757.1:c.*3202+571C>T | ENSP00000495085.1:n.*3202+571C>T | |
| ENST00000644772.1:c.4290C>T | ENSP00000494321.1:p.Asp1430= | |
| ENST00000645004.1:n.1917C>T | ||
| ENST00000645076.1:c.3423C>T | ||
| ENST00000645417.1:c.1412C>T | ||
| ENST00000645744.1:c.*3964-55C>T | ENSP00000494564.1:n.*3964-55C>T | |
| ENST00000645760.1:c.4645C>T | ||
| ENST00000645884.1:c.*1507C>T | ENSP00000495516.1:n.*1507C>T | |
| ENST00000646003.1:c.*2301-55C>T | ENSP00000495259.1:n.*2301-55C>T | |
| ENST00000646207.1:c.*3061C>T | ENSP00000495025.1:n.*3061C>T | |
| ENST00000646276.1:c.*3628C>T | ENSP00000496070.1:n.*3628C>T | |
| ENST00000646592.1:c.3530C>T | ||
| ENST00000646902.1:c.4191C>T | ENSP00000494101.1:p.Asp1397= | |
| ENST00000646993.1:c.*2766C>T | ENSP00000493720.1:n.*2766C>T | |
| ENST00000647013.1:c.4230C>T | ENSP00000496741.1:n.4230C>T | |
| ENST00000647015.1:c.3975C>T | ENSP00000495389.1:p.Asp1325= | |
| ENST00000647086.1:c.*3810C>T | ENSP00000493677.1:n.*3810C>T | |
| ENST00000647158.1:c.*2511C>T | ENSP00000495744.1:n.*2511C>T | |
| ENST00000302539.8:c.4227C>T | ENSP00000303960.4:p.Asp1409= | |
| ENST00000389817.7:c.4224C>T | ENSP00000374467.3:p.Asp1408= | |
| ENST00000525022.1:n.223C>T | ||
| ENST00000526037.5:n.88C>T | ||
| ENST00000526168.5:c.67-55C>T | ||
| ENST00000531642.5:c.60C>T | ||
| NM_000352.4:c.4224C>T | NP_000343.2:p.Asp1408= | |
| NM_001287174.1:c.4227C>T | NP_001274103.1:p.Asp1409= | |
| XM_011520331.1:c.4224C>T | XP_011518633.1:p.Asp1408= | |
| XM_011520332.1:c.4227C>T | XP_011518634.1:p.Asp1409= | |
| XM_011520333.1:c.2724C>T | XP_011518635.1:p.Asp908= | |
| XR_930890.1:n.4290C>T | ||
| NM_001351295.1:c.4290C>T | NP_001338224.1:p.Asp1430= | |
| NM_001351296.1:c.4224C>T | NP_001338225.1:p.Asp1408= | |
| NM_001351297.1:c.4221C>T | NP_001338226.1:p.Asp1407= | |
| NR_147094.1:n.4519C>T | ||
| XM_017018197.2:c.4293C>T | XP_016873686.1:p.Asp1431= | |
| XM_017018199.1:c.4290C>T | XP_016873688.1:p.Asp1430= | |
| XM_017018201.2:c.4293C>T | XP_016873690.1:p.Asp1431= | |
| XM_017018202.1:c.2790C>T | XP_016873691.1:p.Asp930= | |
| XM_017018204.1:c.2181C>T | XP_016873693.1:p.Asp727= | |
| XM_024448668.1:c.2592C>T | XP_024304436.1:p.Asp864= | |
| XR_001747945.2:n.4365C>T | ||
| XR_001747946.2:n.4296C>T | ||
| XR_002957189.1:n.6079C>T | ||
| NM_000352.6:c.4224C>T MANE Select | NP_000343.2:p.Asp1408= | |
| NM_001287174.2:c.4227C>T | NP_001274103.1:p.Asp1409= | |
| NM_001351295.2:c.4290C>T | NP_001338224.1:p.Asp1430= | |
| NM_001351296.2:c.4224C>T | NP_001338225.1:p.Asp1408= | |
| NM_001351297.2:c.4221C>T | NP_001338226.1:p.Asp1407= | |
| NR_147094.2:n.4519C>T | ||
| NM_001287174.3:c.4227C>T | NP_001274103.1:p.Asp1409= |