Linked Data
ClinVar Variation Id:
2911059
ClinVar RCV Id:
RCV003737429
MyVariant Identifiers:
chr11:g.17426106C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404559C>T , CM000673.2:g.17404559C>T | GRCh38 |
| NC_000011.9:g.17426106C>T , CM000673.1:g.17426106C>T | GRCh37 |
| NC_000011.8:g.17382682C>T | NCBI36 |
| NG_008867.1:g.77344G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3079G>A | ||
| ENST00000528374.2:c.89G>A | ||
| ENST00000529967.6:n.1849G>A | ||
| ENST00000532220.2:n.1242G>A | ||
| ENST00000642611.2:n.3579G>A | ||
| ENST00000645004.2:n.1009G>A | ||
| ENST00000682051.1:n.3526G>A | ||
| ENST00000682110.1:n.3579G>A | ||
| ENST00000682140.1:c.3507G>A | ENSP00000507829.1:p.Leu1169= | |
| ENST00000682185.1:n.4815G>A | ||
| ENST00000682204.1:c.*1648G>A | ENSP00000507094.1:n.*1648G>A | |
| ENST00000682215.1:n.3576G>A | ||
| ENST00000682288.1:c.*1941G>A | ENSP00000507506.1:n.*1941G>A | |
| ENST00000682442.1:n.3799G>A | ||
| ENST00000682528.1:n.3656G>A | ||
| ENST00000682673.1:n.3523G>A | ||
| ENST00000682805.1:n.3576G>A | ||
| ENST00000682965.1:c.3396+935G>A | ENSP00000508229.1:n.3396+935G>A | |
| ENST00000683093.1:n.3678G>A | ||
| ENST00000683136.1:c.3507G>A | ENSP00000507768.1:p.Leu1169= | |
| ENST00000683153.1:n.3735G>A | ||
| ENST00000683365.1:n.3681G>A | ||
| ENST00000683377.1:n.3579G>A | ||
| ENST00000683456.1:c.*647G>A | ENSP00000508318.1:n.*647G>A | |
| ENST00000683522.1:n.3579G>A | ||
| ENST00000683562.1:c.*1679G>A | ENSP00000508265.1:n.*1679G>A | |
| ENST00000683693.1:n.3656G>A | ||
| ENST00000683725.1:c.3510G>A | ENSP00000507496.1:p.Leu1170= | |
| ENST00000684010.1:n.3574G>A | ||
| ENST00000684157.1:n.3579G>A | ||
| ENST00000684253.1:n.3482G>A | ||
| ENST00000684288.1:c.*1682G>A | ENSP00000507143.1:n.*1682G>A | |
| ENST00000684313.1:n.3011G>A | ||
| ENST00000684332.1:n.3652G>A | ||
| ENST00000684371.1:n.3685G>A | ||
| ENST00000684404.1:n.3622G>A | ||
| ENST00000684442.1:n.3579G>A | ||
| ENST00000684555.1:c.*1722G>A | ENSP00000507705.1:n.*1722G>A | |
| ENST00000684571.1:c.3351G>A | ENSP00000506935.1:p.Leu1117= | |
| ENST00000684593.1:c.*3215G>A | ENSP00000507005.1:n.*3215G>A | |
| ENST00000684711.1:c.*1906G>A | ENSP00000506841.1:n.*1906G>A | |
| ENST00000302539.9:c.3513G>A | ENSP00000303960.4:p.Leu1171= | |
| ENST00000389817.8:c.3510G>A MANE Select | ENSP00000374467.4:p.Leu1170= | |
| ENST00000642271.1:c.3507G>A | ENSP00000493749.1:p.Leu1169= | |
| ENST00000642579.1:c.1594G>A | ||
| ENST00000642611.1:n.3464G>A | ||
| ENST00000642902.1:c.3292G>A | ||
| ENST00000643260.1:c.3510G>A | ENSP00000494450.1:p.Leu1170= | |
| ENST00000643562.1:c.*1486G>A | ENSP00000496124.1:n.*1486G>A | |
| ENST00000643925.1:c.1634G>A | ||
| ENST00000644447.1:c.1866G>A | ENSP00000496282.1:p.Leu622= | |
| ENST00000644484.1:c.*1765G>A | ENSP00000493558.1:n.*1765G>A | |
| ENST00000644675.1:c.*1682G>A | ENSP00000494567.1:n.*1682G>A | |
| ENST00000644757.1:c.*1795G>A | ENSP00000495085.1:n.*1795G>A | |
| ENST00000644772.1:c.3576G>A | ENSP00000494321.1:p.Leu1192= | |
| ENST00000645004.1:n.649G>A | ||
| ENST00000645076.1:c.2709G>A | ||
| ENST00000645417.1:c.676G>A | ||
| ENST00000645744.1:c.*1774G>A | ENSP00000494564.1:n.*1774G>A | |
| ENST00000645760.1:c.3785G>A | ||
| ENST00000645884.1:c.*647G>A | ENSP00000495516.1:n.*647G>A | |
| ENST00000646003.1:c.*1466G>A | ENSP00000495259.1:n.*1466G>A | |
| ENST00000646207.1:c.*1977G>A | ENSP00000495025.1:n.*1977G>A | |
| ENST00000646276.1:c.*1783G>A | ENSP00000496070.1:n.*1783G>A | |
| ENST00000646592.1:c.2816G>A | ||
| ENST00000646902.1:c.3507G>A | ENSP00000494101.1:p.Leu1169= | |
| ENST00000646993.1:c.*1906G>A | ENSP00000493720.1:n.*1906G>A | |
| ENST00000647013.1:c.3516G>A | ENSP00000496741.1:n.3516G>A | |
| ENST00000647015.1:c.3261G>A | ENSP00000495389.1:p.Leu1087= | |
| ENST00000647086.1:c.*3240G>A | ENSP00000493677.1:n.*3240G>A | |
| ENST00000647158.1:c.*1651G>A | ENSP00000495744.1:n.*1651G>A | |
| ENST00000302539.8:c.3513G>A | ENSP00000303960.4:p.Leu1171= | |
| ENST00000389817.7:c.3510G>A | ENSP00000374467.3:p.Leu1170= | |
| ENST00000524561.1:n.642G>A | ||
| ENST00000527905.5:c.*386G>A | ENSP00000431653.1:n.*386G>A | |
| ENST00000531137.1:n.3G>A | ||
| NM_000352.4:c.3510G>A | NP_000343.2:p.Leu1170= | |
| NM_001287174.1:c.3513G>A | NP_001274103.1:p.Leu1171= | |
| XM_011520331.1:c.3510G>A | XP_011518633.1:p.Leu1170= | |
| XM_011520332.1:c.3513G>A | XP_011518634.1:p.Leu1171= | |
| XM_011520333.1:c.2010G>A | XP_011518635.1:p.Leu670= | |
| XR_930890.1:n.3576G>A | ||
| XR_930892.1:n.3476G>A | ||
| XR_930893.1:n.3473G>A | ||
| NM_001351295.1:c.3576G>A | NP_001338224.1:p.Leu1192= | |
| NM_001351296.1:c.3510G>A | NP_001338225.1:p.Leu1170= | |
| NM_001351297.1:c.3507G>A | NP_001338226.1:p.Leu1169= | |
| NR_147094.1:n.3659G>A | ||
| XM_017018197.2:c.3579G>A | XP_016873686.1:p.Leu1193= | |
| XM_017018199.1:c.3576G>A | XP_016873688.1:p.Leu1192= | |
| XM_017018201.2:c.3579G>A | XP_016873690.1:p.Leu1193= | |
| XM_017018202.1:c.2076G>A | XP_016873691.1:p.Leu692= | |
| XM_017018204.1:c.1467G>A | XP_016873693.1:p.Leu489= | |
| XM_024448668.1:c.1878G>A | XP_024304436.1:p.Leu626= | |
| XR_001747945.2:n.3651G>A | ||
| XR_001747946.2:n.3582G>A | ||
| XR_002957189.1:n.3731G>A | ||
| NM_000352.6:c.3510G>A MANE Select | NP_000343.2:p.Leu1170= | |
| NM_001287174.2:c.3513G>A | NP_001274103.1:p.Leu1171= | |
| NM_001351295.2:c.3576G>A | NP_001338224.1:p.Leu1192= | |
| NM_001351296.2:c.3510G>A | NP_001338225.1:p.Leu1170= | |
| NM_001351297.2:c.3507G>A | NP_001338226.1:p.Leu1169= | |
| NR_147094.2:n.3659G>A | ||
| NM_001287174.3:c.3513G>A | NP_001274103.1:p.Leu1171= |