Linked Data
ClinVar Variation Id:
434050
ClinVar RCV Id:
RCV000501008
RCV000763719
RCV001102697
RCV001102698
RCV001102699
RCV001278414
RCV002056831
dbSNP Id:
rs138687850
ExAC:
11:17448642 C / T
gnomAD v2:
11-17448642-C-T
gnomAD v3:
11-17427095-C-T
gnomAD v4:
11-17427095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17427095C>T , CM000673.2:g.17427095C>T | GRCh38 |
| NC_000011.9:g.17448642C>T , CM000673.1:g.17448642C>T | GRCh37 |
| NC_000011.8:g.17405218C>T | NCBI36 |
| NG_008867.1:g.54808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1845G>A | ||
| ENST00000529967.6:n.435G>A | ||
| ENST00000642611.2:n.2242G>A | ||
| ENST00000682051.1:n.2189G>A | ||
| ENST00000682110.1:n.2242G>A | ||
| ENST00000682140.1:c.2173G>A | ENSP00000507829.1:p.Ala725Thr | |
| ENST00000682185.1:n.3481G>A | ||
| ENST00000682204.1:c.*314G>A | ENSP00000507094.1:n.*314G>A | |
| ENST00000682215.1:n.2242G>A | ||
| ENST00000682288.1:c.*604G>A | ENSP00000507506.1:n.*604G>A | |
| ENST00000682442.1:n.2363G>A | ||
| ENST00000682528.1:n.2242G>A | ||
| ENST00000682673.1:n.2189G>A | ||
| ENST00000682805.1:n.2242G>A | ||
| ENST00000682965.1:c.2173G>A | ENSP00000508229.1:p.Ala725Thr | |
| ENST00000683093.1:n.2344G>A | ||
| ENST00000683136.1:c.2173G>A | ENSP00000507768.1:p.Ala725Thr | |
| ENST00000683153.1:n.2401G>A | ||
| ENST00000683253.1:n.3258G>A | ||
| ENST00000683365.1:n.2344G>A | ||
| ENST00000683377.1:n.2242G>A | ||
| ENST00000683456.1:c.2173G>A | ENSP00000508318.1:p.Ala725Thr | |
| ENST00000683522.1:n.2242G>A | ||
| ENST00000683562.1:c.*345G>A | ENSP00000508265.1:n.*345G>A | |
| ENST00000683693.1:n.2242G>A | ||
| ENST00000683725.1:c.2176G>A | ENSP00000507496.1:p.Ala726Thr | |
| ENST00000684010.1:n.2242G>A | ||
| ENST00000684157.1:n.2242G>A | ||
| ENST00000684253.1:n.2148G>A | ||
| ENST00000684288.1:c.*345G>A | ENSP00000507143.1:n.*345G>A | |
| ENST00000684313.1:n.1724-10133G>A | ||
| ENST00000684332.1:n.2315G>A | ||
| ENST00000684371.1:n.2348G>A | ||
| ENST00000684404.1:n.2242G>A | ||
| ENST00000684442.1:n.2242G>A | ||
| ENST00000684555.1:c.*385G>A | ENSP00000507705.1:n.*385G>A | |
| ENST00000684571.1:c.2017G>A | ENSP00000506935.1:p.Ala673Thr | |
| ENST00000684593.1:c.*1881G>A | ENSP00000507005.1:n.*1881G>A | |
| ENST00000684711.1:c.*572G>A | ENSP00000506841.1:n.*572G>A | |
| ENST00000302539.9:c.2176G>A | ENSP00000303960.4:p.Ala726Thr | |
| ENST00000389817.8:c.2176G>A MANE Select | ENSP00000374467.4:p.Ala726Thr | |
| ENST00000642271.1:c.2173G>A | ENSP00000493749.1:p.Ala725Thr | |
| ENST00000642579.1:c.257G>A | ||
| ENST00000642611.1:n.2127G>A | ||
| ENST00000642902.1:c.2011G>A | ||
| ENST00000643260.1:c.2173G>A | ENSP00000494450.1:p.Ala725Thr | |
| ENST00000643562.1:c.*152G>A | ENSP00000496124.1:n.*152G>A | |
| ENST00000643925.1:c.113G>A | ||
| ENST00000644447.1:c.529G>A | ENSP00000496282.1:p.Ala177Thr | |
| ENST00000644472.1:c.*537G>A | ENSP00000495378.1:n.*537G>A | |
| ENST00000644484.1:c.*385G>A | ENSP00000493558.1:n.*385G>A | |
| ENST00000644542.1:c.*1878G>A | ENSP00000495532.1:n.*1878G>A | |
| ENST00000644675.1:c.*345G>A | ENSP00000494567.1:n.*345G>A | |
| ENST00000644757.1:c.*478G>A | ENSP00000495085.1:n.*478G>A | |
| ENST00000644772.1:c.2242G>A | ENSP00000494321.1:p.Ala748Thr | |
| ENST00000645076.1:c.1428G>A | ||
| ENST00000645744.1:c.*537G>A | ENSP00000494564.1:n.*537G>A | |
| ENST00000645760.1:c.2451G>A | ||
| ENST00000645884.1:c.2173G>A | ENSP00000495516.1:p.Ala725Thr | |
| ENST00000646003.1:c.*314G>A | ENSP00000495259.1:n.*314G>A | |
| ENST00000646207.1:c.*537G>A | ENSP00000495025.1:n.*537G>A | |
| ENST00000646276.1:c.*446G>A | ENSP00000496070.1:n.*446G>A | |
| ENST00000646592.1:c.1399G>A | ||
| ENST00000646902.1:c.2173G>A | ENSP00000494101.1:p.Ala725Thr | |
| ENST00000646993.1:c.*572G>A | ENSP00000493720.1:n.*572G>A | |
| ENST00000647013.1:c.2179G>A | ENSP00000496741.1:n.2179G>A | |
| ENST00000647015.1:c.1924G>A | ENSP00000495389.1:p.Ala642Thr | |
| ENST00000647086.1:c.*1903G>A | ENSP00000493677.1:n.*1903G>A | |
| ENST00000647158.1:c.*314G>A | ENSP00000495744.1:n.*314G>A | |
| ENST00000302539.8:c.2176G>A | ENSP00000303960.4:p.Ala726Thr | |
| ENST00000389817.7:c.2176G>A | ENSP00000374467.3:p.Ala726Thr | |
| ENST00000527905.5:c.2146G>A | ENSP00000431653.1:p.Ala716Thr | |
| ENST00000531911.1:n.287G>A | ||
| NM_000352.4:c.2176G>A | NP_000343.2:p.Ala726Thr | |
| NM_001287174.1:c.2176G>A | NP_001274103.1:p.Ala726Thr | |
| XM_011520331.1:c.2173G>A | XP_011518633.1:p.Ala725Thr | |
| XM_011520332.1:c.2176G>A | XP_011518634.1:p.Ala726Thr | |
| XM_011520333.1:c.673G>A | XP_011518635.1:p.Ala225Thr | |
| XM_011520334.1:c.2176G>A | XP_011518636.1:p.Ala726Thr | |
| XR_930890.1:n.2239G>A | ||
| XR_930891.1:n.2239G>A | ||
| XR_930892.1:n.2239G>A | ||
| XR_930893.1:n.2239G>A | ||
| NM_001351295.1:c.2242G>A | NP_001338224.1:p.Ala748Thr | |
| NM_001351296.1:c.2173G>A | NP_001338225.1:p.Ala725Thr | |
| NM_001351297.1:c.2173G>A | NP_001338226.1:p.Ala725Thr | |
| NR_147094.1:n.2242G>A | ||
| XM_017018197.2:c.2242G>A | XP_016873686.1:p.Ala748Thr | |
| XM_017018199.1:c.2239G>A | XP_016873688.1:p.Ala747Thr | |
| XM_017018201.2:c.2242G>A | XP_016873690.1:p.Ala748Thr | |
| XM_017018202.1:c.739G>A | XP_016873691.1:p.Ala247Thr | |
| XM_017018204.1:c.133G>A | XP_016873693.1:p.Ala45Thr | |
| XM_024448668.1:c.541G>A | XP_024304436.1:p.Ala181Thr | |
| XR_001747945.2:n.2314G>A | ||
| XR_001747946.2:n.2248G>A | ||
| XR_002957189.1:n.2314G>A | ||
| NM_000352.6:c.2176G>A MANE Select | NP_000343.2:p.Ala726Thr | |
| NM_001287174.2:c.2176G>A | NP_001274103.1:p.Ala726Thr | |
| NM_001351295.2:c.2242G>A | NP_001338224.1:p.Ala748Thr | |
| NM_001351296.2:c.2173G>A | NP_001338225.1:p.Ala725Thr | |
| NM_001351297.2:c.2173G>A | NP_001338226.1:p.Ala725Thr | |
| NR_147094.2:n.2242G>A | ||
| NM_001287174.3:c.2176G>A | NP_001274103.1:p.Ala726Thr |