Linked Data
dbSNP Id:
rs1953712957
gnomAD v4:
11-17393120-C-T
MyVariant Identifiers:
chr11:g.17414667C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393120C>T , CM000673.2:g.17393120C>T | GRCh38 |
| NC_000011.9:g.17414667C>T , CM000673.1:g.17414667C>T | GRCh37 |
| NC_000011.8:g.17371243C>T | NCBI36 |
| NG_008867.1:g.88783G>A | |
| NG_012446.1:g.540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4218G>A | ||
| ENST00000526037.6:n.552G>A | ||
| ENST00000528374.2:c.1208G>A | ||
| ENST00000529967.6:n.2956G>A | ||
| ENST00000532220.2:n.3850G>A | ||
| ENST00000642611.2:n.5950G>A | ||
| ENST00000644057.2:n.1193G>A | ||
| ENST00000645004.2:n.2116G>A | ||
| ENST00000682051.1:n.4779G>A | ||
| ENST00000682110.1:n.4832G>A | ||
| ENST00000682140.1:c.*403G>A | ENSP00000507829.1:n.*403G>A | |
| ENST00000682185.1:n.5922G>A | ||
| ENST00000682204.1:c.*2755G>A | ENSP00000507094.1:n.*2755G>A | |
| ENST00000682215.1:n.5199G>A | ||
| ENST00000682288.1:c.*3048G>A | ENSP00000507506.1:n.*3048G>A | |
| ENST00000682442.1:n.5052G>A | ||
| ENST00000682528.1:n.4909G>A | ||
| ENST00000682673.1:n.4776G>A | ||
| ENST00000682805.1:n.5237G>A | ||
| ENST00000682965.1:c.*1039G>A | ENSP00000508229.1:n.*1039G>A | |
| ENST00000683093.1:n.5812G>A | ||
| ENST00000683136.1:c.4500G>A | ENSP00000507768.1:p.Val1500= | |
| ENST00000683153.1:n.4874G>A | ||
| ENST00000683365.1:n.4934G>A | ||
| ENST00000683377.1:n.4728G>A | ||
| ENST00000683456.1:c.*1754G>A | ENSP00000508318.1:n.*1754G>A | |
| ENST00000683522.1:n.4914G>A | ||
| ENST00000683562.1:c.*2682G>A | ENSP00000508265.1:n.*2682G>A | |
| ENST00000683693.1:n.6293G>A | ||
| ENST00000683725.1:c.*82G>A | ENSP00000507496.1:n.*82G>A | |
| ENST00000684010.1:n.4827G>A | ||
| ENST00000684014.1:n.804G>A | ||
| ENST00000684157.1:n.5817G>A | ||
| ENST00000684253.1:n.4735G>A | ||
| ENST00000684288.1:c.*2789G>A | ENSP00000507143.1:n.*2789G>A | |
| ENST00000684313.1:n.4264G>A | ||
| ENST00000684332.1:n.4905G>A | ||
| ENST00000684371.1:n.4938G>A | ||
| ENST00000684404.1:n.5860G>A | ||
| ENST00000684442.1:n.5056G>A | ||
| ENST00000684555.1:c.*2829G>A | ENSP00000507705.1:n.*2829G>A | |
| ENST00000684571.1:c.4458G>A | ENSP00000506935.1:p.Val1486= | |
| ENST00000684593.1:c.*4322G>A | ENSP00000507005.1:n.*4322G>A | |
| ENST00000684711.1:c.*3013G>A | ENSP00000506841.1:n.*3013G>A | |
| ENST00000302539.9:c.4620G>A | ENSP00000303960.4:p.Val1540= | |
| ENST00000389817.8:c.4617G>A MANE Select | ENSP00000374467.4:p.Val1539= | |
| ENST00000642271.1:c.4614G>A | ENSP00000493749.1:p.Val1538= | |
| ENST00000642579.1:c.2671G>A | ||
| ENST00000642611.1:n.5835G>A | ||
| ENST00000642902.1:c.4399G>A | ||
| ENST00000643260.1:c.4617G>A | ENSP00000494450.1:p.Val1539= | |
| ENST00000643562.1:c.*2739G>A | ENSP00000496124.1:n.*2739G>A | |
| ENST00000643925.1:c.3194G>A | ||
| ENST00000644057.1:n.776G>A | ||
| ENST00000644484.1:c.*4003G>A | ENSP00000493558.1:n.*4003G>A | |
| ENST00000644675.1:c.*2789G>A | ENSP00000494567.1:n.*2789G>A | |
| ENST00000644757.1:c.*3203-140G>A | ENSP00000495085.1:n.*3203-140G>A | |
| ENST00000644772.1:c.4683G>A | ENSP00000494321.1:p.Val1561= | |
| ENST00000645004.1:n.2310G>A | ||
| ENST00000645076.1:c.3712G>A | ||
| ENST00000645417.1:c.1805G>A | ||
| ENST00000645744.1:c.*4302G>A | ENSP00000494564.1:n.*4302G>A | |
| ENST00000645760.1:c.5038G>A | ||
| ENST00000645884.1:c.*1900G>A | ENSP00000495516.1:n.*1900G>A | |
| ENST00000646003.1:c.*2639G>A | ENSP00000495259.1:n.*2639G>A | |
| ENST00000646207.1:c.*3454G>A | ENSP00000495025.1:n.*3454G>A | |
| ENST00000646276.1:c.*4021G>A | ENSP00000496070.1:n.*4021G>A | |
| ENST00000646592.1:c.3923G>A | ||
| ENST00000646902.1:c.4584G>A | ENSP00000494101.1:p.Val1528= | |
| ENST00000646993.1:c.*3055G>A | ENSP00000493720.1:n.*3055G>A | |
| ENST00000647015.1:c.4368G>A | ENSP00000495389.1:p.Val1456= | |
| ENST00000647086.1:c.*4203G>A | ENSP00000493677.1:n.*4203G>A | |
| ENST00000647158.1:c.*2904G>A | ENSP00000495744.1:n.*2904G>A | |
| ENST00000302539.8:c.4620G>A | ENSP00000303960.4:p.Val1540= | |
| ENST00000389817.7:c.4617G>A | ENSP00000374467.3:p.Val1539= | |
| ENST00000525022.1:n.596G>A | ||
| ENST00000526037.5:n.377G>A | ||
| ENST00000526168.5:c.405G>A | ||
| ENST00000531642.5:c.648G>A | ||
| NM_000352.4:c.4617G>A | NP_000343.2:p.Val1539= | |
| NM_001287174.1:c.4620G>A | NP_001274103.1:p.Val1540= | |
| XM_011520331.1:c.4617G>A | XP_011518633.1:p.Val1539= | |
| XM_011520333.1:c.3117G>A | XP_011518635.1:p.Val1039= | |
| XR_930890.1:n.4579G>A | ||
| NM_001351295.1:c.4683G>A | NP_001338224.1:p.Val1561= | |
| NM_001351296.1:c.4617G>A | NP_001338225.1:p.Val1539= | |
| NM_001351297.1:c.4614G>A | NP_001338226.1:p.Val1538= | |
| NR_147094.1:n.4912G>A | ||
| XM_017018197.2:c.4686G>A | XP_016873686.1:p.Val1562= | |
| XM_017018199.1:c.4683G>A | XP_016873688.1:p.Val1561= | |
| XM_017018202.1:c.3183G>A | XP_016873691.1:p.Val1061= | |
| XM_017018204.1:c.2574G>A | XP_016873693.1:p.Val858= | |
| XM_024448668.1:c.2985G>A | XP_024304436.1:p.Val995= | |
| XR_001747945.2:n.4654G>A | ||
| XR_001747946.2:n.4585G>A | ||
| XR_002957189.1:n.6368G>A | ||
| NM_000352.6:c.4617G>A MANE Select | NP_000343.2:p.Val1539= | |
| NM_001287174.2:c.4620G>A | NP_001274103.1:p.Val1540= | |
| NM_001351295.2:c.4683G>A | NP_001338224.1:p.Val1561= | |
| NM_001351296.2:c.4617G>A | NP_001338225.1:p.Val1539= | |
| NM_001351297.2:c.4614G>A | NP_001338226.1:p.Val1538= | |
| NR_147094.2:n.4912G>A | ||
| NM_001287174.3:c.4620G>A | NP_001274103.1:p.Val1540= |