Linked Data
ClinVar Variation Id:
1130930
ClinVar RCV Id:
RCV001464637
dbSNP Id:
rs1251688793
MyVariant Identifiers:
chr11:g.17428327G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406780G>T , CM000673.2:g.17406780G>T | GRCh38 |
| NC_000011.9:g.17428327G>T , CM000673.1:g.17428327G>T | GRCh37 |
| NC_000011.8:g.17384903G>T | NCBI36 |
| NG_008867.1:g.75123C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2740C>A | ||
| ENST00000529967.6:n.1510C>A | ||
| ENST00000532220.2:n.903C>A | ||
| ENST00000642611.2:n.3240C>A | ||
| ENST00000645004.2:n.670C>A | ||
| ENST00000682051.1:n.3187C>A | ||
| ENST00000682110.1:n.3240C>A | ||
| ENST00000682140.1:c.3168C>A | ENSP00000507829.1:p.Thr1056= | |
| ENST00000682185.1:n.4476C>A | ||
| ENST00000682204.1:c.*1309C>A | ENSP00000507094.1:n.*1309C>A | |
| ENST00000682215.1:n.3237C>A | ||
| ENST00000682288.1:c.*1602C>A | ENSP00000507506.1:n.*1602C>A | |
| ENST00000682442.1:n.3460C>A | ||
| ENST00000682528.1:n.3317C>A | ||
| ENST00000682673.1:n.3184C>A | ||
| ENST00000682805.1:n.3237C>A | ||
| ENST00000682965.1:c.3168C>A | ENSP00000508229.1:p.Thr1056= | |
| ENST00000683093.1:n.3339C>A | ||
| ENST00000683136.1:c.3168C>A | ENSP00000507768.1:p.Thr1056= | |
| ENST00000683153.1:n.3396C>A | ||
| ENST00000683365.1:n.3342C>A | ||
| ENST00000683377.1:n.3240C>A | ||
| ENST00000683456.1:c.*308C>A | ENSP00000508318.1:n.*308C>A | |
| ENST00000683522.1:n.3240C>A | ||
| ENST00000683562.1:c.*1340C>A | ENSP00000508265.1:n.*1340C>A | |
| ENST00000683693.1:n.3317C>A | ||
| ENST00000683725.1:c.3171C>A | ENSP00000507496.1:p.Thr1057= | |
| ENST00000684010.1:n.3235C>A | ||
| ENST00000684157.1:n.3240C>A | ||
| ENST00000684253.1:n.3143C>A | ||
| ENST00000684288.1:c.*1343C>A | ENSP00000507143.1:n.*1343C>A | |
| ENST00000684313.1:n.2672C>A | ||
| ENST00000684332.1:n.3313C>A | ||
| ENST00000684371.1:n.3346C>A | ||
| ENST00000684404.1:n.3283C>A | ||
| ENST00000684442.1:n.3240C>A | ||
| ENST00000684555.1:c.*1383C>A | ENSP00000507705.1:n.*1383C>A | |
| ENST00000684571.1:c.3012C>A | ENSP00000506935.1:p.Thr1004= | |
| ENST00000684593.1:c.*2876C>A | ENSP00000507005.1:n.*2876C>A | |
| ENST00000684711.1:c.*1567C>A | ENSP00000506841.1:n.*1567C>A | |
| ENST00000302539.9:c.3174C>A | ENSP00000303960.4:p.Thr1058= | |
| ENST00000389817.8:c.3171C>A MANE Select | ENSP00000374467.4:p.Thr1057= | |
| ENST00000642271.1:c.3168C>A | ENSP00000493749.1:p.Thr1056= | |
| ENST00000642579.1:c.1255C>A | ||
| ENST00000642611.1:n.3125C>A | ||
| ENST00000642902.1:c.2953C>A | ||
| ENST00000643260.1:c.3171C>A | ENSP00000494450.1:p.Thr1057= | |
| ENST00000643562.1:c.*1147C>A | ENSP00000496124.1:n.*1147C>A | |
| ENST00000643925.1:c.1295C>A | ||
| ENST00000644447.1:c.1527C>A | ENSP00000496282.1:p.Thr509= | |
| ENST00000644484.1:c.*1426C>A | ENSP00000493558.1:n.*1426C>A | |
| ENST00000644542.1:c.*2975C>A | ENSP00000495532.1:n.*2975C>A | |
| ENST00000644675.1:c.*1343C>A | ENSP00000494567.1:n.*1343C>A | |
| ENST00000644757.1:c.*1456C>A | ENSP00000495085.1:n.*1456C>A | |
| ENST00000644772.1:c.3237C>A | ENSP00000494321.1:p.Thr1079= | |
| ENST00000645004.1:n.310C>A | ||
| ENST00000645076.1:c.2370C>A | ||
| ENST00000645417.1:c.337C>A | ||
| ENST00000645744.1:c.*1435C>A | ENSP00000494564.1:n.*1435C>A | |
| ENST00000645760.1:c.3446C>A | ||
| ENST00000645884.1:c.*308C>A | ENSP00000495516.1:n.*308C>A | |
| ENST00000646003.1:c.*1127C>A | ENSP00000495259.1:n.*1127C>A | |
| ENST00000646207.1:c.*1638C>A | ENSP00000495025.1:n.*1638C>A | |
| ENST00000646276.1:c.*1444C>A | ENSP00000496070.1:n.*1444C>A | |
| ENST00000646592.1:c.2477C>A | ||
| ENST00000646902.1:c.3168C>A | ENSP00000494101.1:p.Thr1056= | |
| ENST00000646993.1:c.*1567C>A | ENSP00000493720.1:n.*1567C>A | |
| ENST00000647013.1:c.3177C>A | ENSP00000496741.1:n.3177C>A | |
| ENST00000647015.1:c.2922C>A | ENSP00000495389.1:p.Thr974= | |
| ENST00000647086.1:c.*2901C>A | ENSP00000493677.1:n.*2901C>A | |
| ENST00000647158.1:c.*1312C>A | ENSP00000495744.1:n.*1312C>A | |
| ENST00000302539.8:c.3174C>A | ENSP00000303960.4:p.Thr1058= | |
| ENST00000389817.7:c.3171C>A | ENSP00000374467.3:p.Thr1057= | |
| ENST00000524561.1:n.303C>A | ||
| ENST00000526921.5:n.855C>A | ||
| ENST00000527905.5:c.*47C>A | ENSP00000431653.1:n.*47C>A | |
| NM_000352.4:c.3171C>A | NP_000343.2:p.Thr1057= | |
| NM_001287174.1:c.3174C>A | NP_001274103.1:p.Thr1058= | |
| XM_011520331.1:c.3171C>A | XP_011518633.1:p.Thr1057= | |
| XM_011520332.1:c.3174C>A | XP_011518634.1:p.Thr1058= | |
| XM_011520333.1:c.1671C>A | XP_011518635.1:p.Thr557= | |
| XR_930890.1:n.3237C>A | ||
| XR_930891.1:n.3237C>A | ||
| XR_930892.1:n.3137C>A | ||
| XR_930893.1:n.3134C>A | ||
| NM_001351295.1:c.3237C>A | NP_001338224.1:p.Thr1079= | |
| NM_001351296.1:c.3171C>A | NP_001338225.1:p.Thr1057= | |
| NM_001351297.1:c.3168C>A | NP_001338226.1:p.Thr1056= | |
| NR_147094.1:n.3320C>A | ||
| XM_017018197.2:c.3240C>A | XP_016873686.1:p.Thr1080= | |
| XM_017018199.1:c.3237C>A | XP_016873688.1:p.Thr1079= | |
| XM_017018201.2:c.3240C>A | XP_016873690.1:p.Thr1080= | |
| XM_017018202.1:c.1737C>A | XP_016873691.1:p.Thr579= | |
| XM_017018204.1:c.1128C>A | XP_016873693.1:p.Thr376= | |
| XM_024448668.1:c.1539C>A | XP_024304436.1:p.Thr513= | |
| XR_001747945.2:n.3312C>A | ||
| XR_001747946.2:n.3243C>A | ||
| XR_002957189.1:n.3392C>A | ||
| NM_000352.6:c.3171C>A MANE Select | NP_000343.2:p.Thr1057= | |
| NM_001287174.2:c.3174C>A | NP_001274103.1:p.Thr1058= | |
| NM_001351295.2:c.3237C>A | NP_001338224.1:p.Thr1079= | |
| NM_001351296.2:c.3171C>A | NP_001338225.1:p.Thr1057= | |
| NM_001351297.2:c.3168C>A | NP_001338226.1:p.Thr1056= | |
| NR_147094.2:n.3320C>A | ||
| NM_001287174.3:c.3174C>A | NP_001274103.1:p.Thr1058= |