Linked Data
ClinVar Variation Id:
303771
ClinVar RCV Id:
RCV000290773
RCV000331715
RCV000386179
RCV001820892
RCV002520700
RCV002480109
RCV002520699
dbSNP Id:
rs531684936
ExAC:
11:17432122 C / T
gnomAD v2:
11-17432122-C-T
gnomAD v3:
11-17410575-C-T
gnomAD v4:
11-17410575-C-T
COSMIC:
COSM925480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17410575C>T , CM000673.2:g.17410575C>T | GRCh38 |
| NC_000011.9:g.17432122C>T , CM000673.1:g.17432122C>T | GRCh37 |
| NC_000011.8:g.17388698C>T | NCBI36 |
| NG_008867.1:g.71328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2304G>A | ||
| ENST00000529967.6:n.894G>A | ||
| ENST00000642611.2:n.2704G>A | ||
| ENST00000682051.1:n.2651G>A | ||
| ENST00000682110.1:n.2704G>A | ||
| ENST00000682140.1:c.2632G>A | ENSP00000507829.1:p.Asp878Asn | |
| ENST00000682185.1:n.3940G>A | ||
| ENST00000682204.1:c.*773G>A | ENSP00000507094.1:n.*773G>A | |
| ENST00000682215.1:n.2701G>A | ||
| ENST00000682288.1:c.*1066G>A | ENSP00000507506.1:n.*1066G>A | |
| ENST00000682442.1:n.2825G>A | ||
| ENST00000682528.1:n.2701G>A | ||
| ENST00000682673.1:n.2648G>A | ||
| ENST00000682805.1:n.2701G>A | ||
| ENST00000682965.1:c.2632G>A | ENSP00000508229.1:p.Asp878Asn | |
| ENST00000683093.1:n.2803G>A | ||
| ENST00000683136.1:c.2632G>A | ENSP00000507768.1:p.Asp878Asn | |
| ENST00000683153.1:n.2860G>A | ||
| ENST00000683365.1:n.2806G>A | ||
| ENST00000683377.1:n.2704G>A | ||
| ENST00000683456.1:c.2635G>A | ENSP00000508318.1:p.Asp879Asn | |
| ENST00000683522.1:n.2704G>A | ||
| ENST00000683562.1:c.*804G>A | ENSP00000508265.1:n.*804G>A | |
| ENST00000683693.1:n.2701G>A | ||
| ENST00000683725.1:c.2635G>A | ENSP00000507496.1:p.Asp879Asn | |
| ENST00000684010.1:n.2619G>A | ||
| ENST00000684157.1:n.2704G>A | ||
| ENST00000684253.1:n.2607G>A | ||
| ENST00000684288.1:c.*807G>A | ENSP00000507143.1:n.*807G>A | |
| ENST00000684313.1:n.2136G>A | ||
| ENST00000684332.1:n.2777G>A | ||
| ENST00000684371.1:n.2810G>A | ||
| ENST00000684404.1:n.2701G>A | ||
| ENST00000684442.1:n.2704G>A | ||
| ENST00000684555.1:c.*847G>A | ENSP00000507705.1:n.*847G>A | |
| ENST00000684571.1:c.2476G>A | ENSP00000506935.1:p.Asp826Asn | |
| ENST00000684593.1:c.*2340G>A | ENSP00000507005.1:n.*2340G>A | |
| ENST00000684711.1:c.*1031G>A | ENSP00000506841.1:n.*1031G>A | |
| ENST00000302539.9:c.2638G>A | ENSP00000303960.4:p.Asp880Asn | |
| ENST00000389817.8:c.2635G>A MANE Select | ENSP00000374467.4:p.Asp879Asn | |
| ENST00000642271.1:c.2632G>A | ENSP00000493749.1:p.Asp878Asn | |
| ENST00000642579.1:c.719G>A | ||
| ENST00000642611.1:n.2589G>A | ||
| ENST00000642902.1:c.2470G>A | ||
| ENST00000643260.1:c.2635G>A | ENSP00000494450.1:p.Asp879Asn | |
| ENST00000643562.1:c.*611G>A | ENSP00000496124.1:n.*611G>A | |
| ENST00000643925.1:c.679G>A | ||
| ENST00000644447.1:c.991G>A | ENSP00000496282.1:p.Asp331Asn | |
| ENST00000644472.1:c.*996G>A | ENSP00000495378.1:n.*996G>A | |
| ENST00000644484.1:c.*844G>A | ENSP00000493558.1:n.*844G>A | |
| ENST00000644542.1:c.*2340G>A | ENSP00000495532.1:n.*2340G>A | |
| ENST00000644675.1:c.*807G>A | ENSP00000494567.1:n.*807G>A | |
| ENST00000644757.1:c.*940G>A | ENSP00000495085.1:n.*940G>A | |
| ENST00000644772.1:c.2701G>A | ENSP00000494321.1:p.Asp901Asn | |
| ENST00000645076.1:c.1887G>A | ||
| ENST00000645744.1:c.*999G>A | ENSP00000494564.1:n.*999G>A | |
| ENST00000645760.1:c.2910G>A | ||
| ENST00000645884.1:c.2635G>A | ENSP00000495516.1:p.Asp879Asn | |
| ENST00000646003.1:c.*691G>A | ENSP00000495259.1:n.*691G>A | |
| ENST00000646207.1:c.*999G>A | ENSP00000495025.1:n.*999G>A | |
| ENST00000646276.1:c.*908G>A | ENSP00000496070.1:n.*908G>A | |
| ENST00000646592.1:c.1861G>A | ||
| ENST00000646902.1:c.2632G>A | ENSP00000494101.1:p.Asp878Asn | |
| ENST00000646993.1:c.*1031G>A | ENSP00000493720.1:n.*1031G>A | |
| ENST00000647013.1:c.2641G>A | ENSP00000496741.1:n.2641G>A | |
| ENST00000647015.1:c.2386G>A | ENSP00000495389.1:p.Asp796Asn | |
| ENST00000647086.1:c.*2365G>A | ENSP00000493677.1:n.*2365G>A | |
| ENST00000647158.1:c.*776G>A | ENSP00000495744.1:n.*776G>A | |
| ENST00000302539.8:c.2638G>A | ENSP00000303960.4:p.Asp880Asn | |
| ENST00000389817.7:c.2635G>A | ENSP00000374467.3:p.Asp879Asn | |
| ENST00000526921.5:n.319G>A | ||
| ENST00000527905.5:c.2605G>A | ENSP00000431653.1:p.Asp869Asn | |
| ENST00000529967.5:n.304G>A | ||
| ENST00000530147.5:n.218G>A | ||
| NM_000352.4:c.2635G>A | NP_000343.2:p.Asp879Asn | |
| NM_001287174.1:c.2638G>A | NP_001274103.1:p.Asp880Asn | |
| XM_011520331.1:c.2635G>A | XP_011518633.1:p.Asp879Asn | |
| XM_011520332.1:c.2638G>A | XP_011518634.1:p.Asp880Asn | |
| XM_011520333.1:c.1135G>A | XP_011518635.1:p.Asp379Asn | |
| XM_011520334.1:c.2638G>A | XP_011518636.1:p.Asp880Asn | |
| XR_930890.1:n.2701G>A | ||
| XR_930891.1:n.2701G>A | ||
| XR_930892.1:n.2701G>A | ||
| XR_930893.1:n.2698G>A | ||
| NM_001351295.1:c.2701G>A | NP_001338224.1:p.Asp901Asn | |
| NM_001351296.1:c.2635G>A | NP_001338225.1:p.Asp879Asn | |
| NM_001351297.1:c.2632G>A | NP_001338226.1:p.Asp878Asn | |
| NR_147094.1:n.2704G>A | ||
| XM_017018197.2:c.2704G>A | XP_016873686.1:p.Asp902Asn | |
| XM_017018199.1:c.2701G>A | XP_016873688.1:p.Asp901Asn | |
| XM_017018201.2:c.2704G>A | XP_016873690.1:p.Asp902Asn | |
| XM_017018202.1:c.1201G>A | XP_016873691.1:p.Asp401Asn | |
| XM_017018204.1:c.592G>A | XP_016873693.1:p.Asp198Asn | |
| XM_024448668.1:c.1003G>A | XP_024304436.1:p.Asp335Asn | |
| XR_001747945.2:n.2776G>A | ||
| XR_001747946.2:n.2707G>A | ||
| XR_002957189.1:n.2776G>A | ||
| NM_000352.6:c.2635G>A MANE Select | NP_000343.2:p.Asp879Asn | |
| NM_001287174.2:c.2638G>A | NP_001274103.1:p.Asp880Asn | |
| NM_001351295.2:c.2701G>A | NP_001338224.1:p.Asp901Asn | |
| NM_001351296.2:c.2635G>A | NP_001338225.1:p.Asp879Asn | |
| NM_001351297.2:c.2632G>A | NP_001338226.1:p.Asp878Asn | |
| NR_147094.2:n.2704G>A | ||
| NM_001287174.3:c.2638G>A | NP_001274103.1:p.Asp880Asn |