Linked Data
ClinVar Variation Id:
1102279
ClinVar RCV Id:
RCV001425501
dbSNP Id:
rs1953753838
MyVariant Identifiers:
chr11:g.17415283C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393736C>T , CM000673.2:g.17393736C>T | GRCh38 |
| NC_000011.9:g.17415283C>T , CM000673.1:g.17415283C>T | GRCh37 |
| NC_000011.8:g.17371859C>T | NCBI36 |
| NG_008867.1:g.88167G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4170G>A | ||
| ENST00000526037.6:n.504G>A | ||
| ENST00000528374.2:c.1160G>A | ||
| ENST00000529967.6:n.2908G>A | ||
| ENST00000532220.2:n.3802G>A | ||
| ENST00000642611.2:n.5902G>A | ||
| ENST00000644057.2:n.1145G>A | ||
| ENST00000645004.2:n.2068G>A | ||
| ENST00000682051.1:n.4731G>A | ||
| ENST00000682110.1:n.4784G>A | ||
| ENST00000682140.1:c.*355G>A | ENSP00000507829.1:n.*355G>A | |
| ENST00000682185.1:n.5874G>A | ||
| ENST00000682204.1:c.*2707G>A | ENSP00000507094.1:n.*2707G>A | |
| ENST00000682215.1:n.5151G>A | ||
| ENST00000682288.1:c.*3000G>A | ENSP00000507506.1:n.*3000G>A | |
| ENST00000682442.1:n.5004G>A | ||
| ENST00000682528.1:n.4861G>A | ||
| ENST00000682673.1:n.4728G>A | ||
| ENST00000682805.1:n.5189G>A | ||
| ENST00000682965.1:c.*991G>A | ENSP00000508229.1:n.*991G>A | |
| ENST00000683093.1:n.5764G>A | ||
| ENST00000683136.1:c.4452G>A | ENSP00000507768.1:p.Val1484= | |
| ENST00000683153.1:n.4826G>A | ||
| ENST00000683365.1:n.4886G>A | ||
| ENST00000683377.1:n.4680G>A | ||
| ENST00000683456.1:c.*1706G>A | ENSP00000508318.1:n.*1706G>A | |
| ENST00000683522.1:n.4866G>A | ||
| ENST00000683562.1:c.*2634G>A | ENSP00000508265.1:n.*2634G>A | |
| ENST00000683693.1:n.6245G>A | ||
| ENST00000683725.1:c.*34G>A | ENSP00000507496.1:n.*34G>A | |
| ENST00000684010.1:n.4779G>A | ||
| ENST00000684014.1:n.756G>A | ||
| ENST00000684157.1:n.5769G>A | ||
| ENST00000684253.1:n.4687G>A | ||
| ENST00000684288.1:c.*2741G>A | ENSP00000507143.1:n.*2741G>A | |
| ENST00000684313.1:n.4216G>A | ||
| ENST00000684332.1:n.4857G>A | ||
| ENST00000684371.1:n.4890G>A | ||
| ENST00000684404.1:n.5812G>A | ||
| ENST00000684442.1:n.5008G>A | ||
| ENST00000684555.1:c.*2781G>A | ENSP00000507705.1:n.*2781G>A | |
| ENST00000684571.1:c.4410G>A | ENSP00000506935.1:p.Val1470= | |
| ENST00000684593.1:c.*4274G>A | ENSP00000507005.1:n.*4274G>A | |
| ENST00000684711.1:c.*2965G>A | ENSP00000506841.1:n.*2965G>A | |
| ENST00000302539.9:c.4572G>A | ENSP00000303960.4:p.Val1524= | |
| ENST00000389817.8:c.4569G>A MANE Select | ENSP00000374467.4:p.Val1523= | |
| ENST00000642271.1:c.4566G>A | ENSP00000493749.1:p.Val1522= | |
| ENST00000642579.1:c.2623G>A | ||
| ENST00000642611.1:n.5787G>A | ||
| ENST00000642902.1:c.4351G>A | ||
| ENST00000643260.1:c.4569G>A | ENSP00000494450.1:p.Val1523= | |
| ENST00000643562.1:c.*2691G>A | ENSP00000496124.1:n.*2691G>A | |
| ENST00000643925.1:c.3185+530G>A | ||
| ENST00000644057.1:n.728G>A | ||
| ENST00000644484.1:c.*3955G>A | ENSP00000493558.1:n.*3955G>A | |
| ENST00000644675.1:c.*2741G>A | ENSP00000494567.1:n.*2741G>A | |
| ENST00000644757.1:c.*3203-756G>A | ENSP00000495085.1:n.*3203-756G>A | |
| ENST00000644772.1:c.4635G>A | ENSP00000494321.1:p.Val1545= | |
| ENST00000645004.1:n.2262G>A | ||
| ENST00000645076.1:c.3664G>A | ||
| ENST00000645417.1:c.1757G>A | ||
| ENST00000645744.1:c.*4254G>A | ENSP00000494564.1:n.*4254G>A | |
| ENST00000645760.1:c.4990G>A | ||
| ENST00000645884.1:c.*1852G>A | ENSP00000495516.1:n.*1852G>A | |
| ENST00000646003.1:c.*2591G>A | ENSP00000495259.1:n.*2591G>A | |
| ENST00000646207.1:c.*3406G>A | ENSP00000495025.1:n.*3406G>A | |
| ENST00000646276.1:c.*3973G>A | ENSP00000496070.1:n.*3973G>A | |
| ENST00000646592.1:c.3875G>A | ||
| ENST00000646902.1:c.4536G>A | ENSP00000494101.1:p.Val1512= | |
| ENST00000646993.1:c.*3007G>A | ENSP00000493720.1:n.*3007G>A | |
| ENST00000647015.1:c.4320G>A | ENSP00000495389.1:p.Val1440= | |
| ENST00000647086.1:c.*4155G>A | ENSP00000493677.1:n.*4155G>A | |
| ENST00000647158.1:c.*2856G>A | ENSP00000495744.1:n.*2856G>A | |
| ENST00000302539.8:c.4572G>A | ENSP00000303960.4:p.Val1524= | |
| ENST00000389817.7:c.4569G>A | ENSP00000374467.3:p.Val1523= | |
| ENST00000525022.1:n.464G>A | ||
| ENST00000526037.5:n.329G>A | ||
| ENST00000526168.5:c.357G>A | ||
| ENST00000531642.5:c.600G>A | ||
| NM_000352.4:c.4569G>A | NP_000343.2:p.Val1523= | |
| NM_001287174.1:c.4572G>A | NP_001274103.1:p.Val1524= | |
| XM_011520331.1:c.4569G>A | XP_011518633.1:p.Val1523= | |
| XM_011520333.1:c.3069G>A | XP_011518635.1:p.Val1023= | |
| XR_930890.1:n.4531G>A | ||
| NM_001351295.1:c.4635G>A | NP_001338224.1:p.Val1545= | |
| NM_001351296.1:c.4569G>A | NP_001338225.1:p.Val1523= | |
| NM_001351297.1:c.4566G>A | NP_001338226.1:p.Val1522= | |
| NR_147094.1:n.4864G>A | ||
| XM_017018197.2:c.4638G>A | XP_016873686.1:p.Val1546= | |
| XM_017018199.1:c.4635G>A | XP_016873688.1:p.Val1545= | |
| XM_017018202.1:c.3135G>A | XP_016873691.1:p.Val1045= | |
| XM_017018204.1:c.2526G>A | XP_016873693.1:p.Val842= | |
| XM_024448668.1:c.2937G>A | XP_024304436.1:p.Val979= | |
| XR_001747945.2:n.4606G>A | ||
| XR_001747946.2:n.4537G>A | ||
| XR_002957189.1:n.6320G>A | ||
| NM_000352.6:c.4569G>A MANE Select | NP_000343.2:p.Val1523= | |
| NM_001287174.2:c.4572G>A | NP_001274103.1:p.Val1524= | |
| NM_001351295.2:c.4635G>A | NP_001338224.1:p.Val1545= | |
| NM_001351296.2:c.4569G>A | NP_001338225.1:p.Val1523= | |
| NM_001351297.2:c.4566G>A | NP_001338226.1:p.Val1522= | |
| NR_147094.2:n.4864G>A | ||
| NM_001287174.3:c.4572G>A | NP_001274103.1:p.Val1524= |