Linked Data
ClinVar Variation Id:
188915
ClinVar RCV Id:
RCV000169276
RCV000201895
RCV000763234
RCV001277195
RCV002243836
RCV002243837
RCV003462267
dbSNP Id:
rs72559722
ExAC:
11:17434263 G / A
gnomAD v2:
11-17434263-G-A
gnomAD v3:
11-17412716-G-A
gnomAD v4:
11-17412716-G-A
COSMIC:
COSM1352946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17412716G>A , CM000673.2:g.17412716G>A | GRCh38 |
| NC_000011.9:g.17434263G>A , CM000673.1:g.17434263G>A | GRCh37 |
| NC_000011.8:g.17390839G>A | NCBI36 |
| NG_008867.1:g.69187C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2175C>T | ||
| ENST00000529967.6:n.765C>T | ||
| ENST00000642611.2:n.2575C>T | ||
| ENST00000682051.1:n.2522C>T | ||
| ENST00000682110.1:n.2575C>T | ||
| ENST00000682140.1:c.2503C>T | ENSP00000507829.1:p.Arg835Ter | |
| ENST00000682185.1:n.3811C>T | ||
| ENST00000682204.1:c.*644C>T | ENSP00000507094.1:n.*644C>T | |
| ENST00000682215.1:n.2572C>T | ||
| ENST00000682288.1:c.*937C>T | ENSP00000507506.1:n.*937C>T | |
| ENST00000682442.1:n.2696C>T | ||
| ENST00000682528.1:n.2572C>T | ||
| ENST00000682673.1:n.2519C>T | ||
| ENST00000682805.1:n.2572C>T | ||
| ENST00000682965.1:c.2503C>T | ENSP00000508229.1:p.Arg835Ter | |
| ENST00000683093.1:n.2674C>T | ||
| ENST00000683136.1:c.2503C>T | ENSP00000507768.1:p.Arg835Ter | |
| ENST00000683153.1:n.2731C>T | ||
| ENST00000683365.1:n.2677C>T | ||
| ENST00000683377.1:n.2575C>T | ||
| ENST00000683456.1:c.2506C>T | ENSP00000508318.1:p.Arg836Ter | |
| ENST00000683522.1:n.2575C>T | ||
| ENST00000683562.1:c.*675C>T | ENSP00000508265.1:n.*675C>T | |
| ENST00000683693.1:n.2572C>T | ||
| ENST00000683725.1:c.2506C>T | ENSP00000507496.1:p.Arg836Ter | |
| ENST00000684010.1:n.2490C>T | ||
| ENST00000684157.1:n.2575C>T | ||
| ENST00000684253.1:n.2478C>T | ||
| ENST00000684288.1:c.*678C>T | ENSP00000507143.1:n.*678C>T | |
| ENST00000684313.1:n.2007C>T | ||
| ENST00000684332.1:n.2648C>T | ||
| ENST00000684371.1:n.2681C>T | ||
| ENST00000684404.1:n.2572C>T | ||
| ENST00000684442.1:n.2575C>T | ||
| ENST00000684555.1:c.*718C>T | ENSP00000507705.1:n.*718C>T | |
| ENST00000684571.1:c.2347C>T | ENSP00000506935.1:p.Arg783Ter | |
| ENST00000684593.1:c.*2211C>T | ENSP00000507005.1:n.*2211C>T | |
| ENST00000684711.1:c.*902C>T | ENSP00000506841.1:n.*902C>T | |
| ENST00000302539.9:c.2509C>T | ENSP00000303960.4:p.Arg837Ter | |
| ENST00000389817.8:c.2506C>T MANE Select | ENSP00000374467.4:p.Arg836Ter | |
| ENST00000642271.1:c.2503C>T | ENSP00000493749.1:p.Arg835Ter | |
| ENST00000642579.1:c.590C>T | ||
| ENST00000642611.1:n.2460C>T | ||
| ENST00000642902.1:c.2341C>T | ||
| ENST00000643260.1:c.2506C>T | ENSP00000494450.1:p.Arg836Ter | |
| ENST00000643562.1:c.*482C>T | ENSP00000496124.1:n.*482C>T | |
| ENST00000643925.1:c.550C>T | ||
| ENST00000644447.1:c.862C>T | ENSP00000496282.1:p.Arg288Ter | |
| ENST00000644472.1:c.*867C>T | ENSP00000495378.1:n.*867C>T | |
| ENST00000644484.1:c.*715C>T | ENSP00000493558.1:n.*715C>T | |
| ENST00000644542.1:c.*2211C>T | ENSP00000495532.1:n.*2211C>T | |
| ENST00000644675.1:c.*678C>T | ENSP00000494567.1:n.*678C>T | |
| ENST00000644757.1:c.*811C>T | ENSP00000495085.1:n.*811C>T | |
| ENST00000644772.1:c.2572C>T | ENSP00000494321.1:p.Arg858Ter | |
| ENST00000645076.1:c.1758C>T | ||
| ENST00000645744.1:c.*870C>T | ENSP00000494564.1:n.*870C>T | |
| ENST00000645760.1:c.2781C>T | ||
| ENST00000645884.1:c.2506C>T | ENSP00000495516.1:p.Arg836Ter | |
| ENST00000646003.1:c.*562C>T | ENSP00000495259.1:n.*562C>T | |
| ENST00000646207.1:c.*870C>T | ENSP00000495025.1:n.*870C>T | |
| ENST00000646276.1:c.*779C>T | ENSP00000496070.1:n.*779C>T | |
| ENST00000646592.1:c.1732C>T | ||
| ENST00000646902.1:c.2503C>T | ENSP00000494101.1:p.Arg835Ter | |
| ENST00000646993.1:c.*902C>T | ENSP00000493720.1:n.*902C>T | |
| ENST00000647013.1:c.2512C>T | ENSP00000496741.1:n.2512C>T | |
| ENST00000647015.1:c.2257C>T | ENSP00000495389.1:p.Arg753Ter | |
| ENST00000647086.1:c.*2236C>T | ENSP00000493677.1:n.*2236C>T | |
| ENST00000647158.1:c.*647C>T | ENSP00000495744.1:n.*647C>T | |
| ENST00000302539.8:c.2509C>T | ENSP00000303960.4:p.Arg837Ter | |
| ENST00000389817.7:c.2506C>T | ENSP00000374467.3:p.Arg836Ter | |
| ENST00000526921.5:n.190C>T | ||
| ENST00000527905.5:c.2476C>T | ENSP00000431653.1:p.Arg826Ter | |
| ENST00000529967.5:n.175C>T | ||
| ENST00000530147.5:n.89C>T | ||
| ENST00000531911.1:n.620C>T | ||
| NM_000352.4:c.2506C>T | NP_000343.2:p.Arg836Ter | |
| NM_001287174.1:c.2509C>T | NP_001274103.1:p.Arg837Ter | |
| XM_011520331.1:c.2506C>T | XP_011518633.1:p.Arg836Ter | |
| XM_011520332.1:c.2509C>T | XP_011518634.1:p.Arg837Ter | |
| XM_011520333.1:c.1006C>T | XP_011518635.1:p.Arg336Ter | |
| XM_011520334.1:c.2509C>T | XP_011518636.1:p.Arg837Ter | |
| XR_930890.1:n.2572C>T | ||
| XR_930891.1:n.2572C>T | ||
| XR_930892.1:n.2572C>T | ||
| XR_930893.1:n.2569C>T | ||
| NM_001351295.1:c.2572C>T | NP_001338224.1:p.Arg858Ter | |
| NM_001351296.1:c.2506C>T | NP_001338225.1:p.Arg836Ter | |
| NM_001351297.1:c.2503C>T | NP_001338226.1:p.Arg835Ter | |
| NR_147094.1:n.2575C>T | ||
| XM_017018197.2:c.2575C>T | XP_016873686.1:p.Arg859Ter | |
| XM_017018199.1:c.2572C>T | XP_016873688.1:p.Arg858Ter | |
| XM_017018201.2:c.2575C>T | XP_016873690.1:p.Arg859Ter | |
| XM_017018202.1:c.1072C>T | XP_016873691.1:p.Arg358Ter | |
| XM_017018204.1:c.463C>T | XP_016873693.1:p.Arg155Ter | |
| XM_024448668.1:c.874C>T | XP_024304436.1:p.Arg292Ter | |
| XR_001747945.2:n.2647C>T | ||
| XR_001747946.2:n.2578C>T | ||
| XR_002957189.1:n.2647C>T | ||
| NM_000352.6:c.2506C>T MANE Select | NP_000343.2:p.Arg836Ter | |
| NM_001287174.2:c.2509C>T | NP_001274103.1:p.Arg837Ter | |
| NM_001351295.2:c.2572C>T | NP_001338224.1:p.Arg858Ter | |
| NM_001351296.2:c.2506C>T | NP_001338225.1:p.Arg836Ter | |
| NM_001351297.2:c.2503C>T | NP_001338226.1:p.Arg835Ter | |
| NR_147094.2:n.2575C>T | ||
| NM_001287174.3:c.2509C>T | NP_001274103.1:p.Arg837Ter |