Linked Data
ClinVar Variation Id:
2576196
ClinVar RCV Id:
RCV003322257
dbSNP Id:
rs866198779
gnomAD v2:
11-17417474-C-T
gnomAD v3:
11-17395927-C-T
gnomAD v4:
11-17395927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395927C>T , CM000673.2:g.17395927C>T | GRCh38 |
| NC_000011.9:g.17417474C>T , CM000673.1:g.17417474C>T | GRCh37 |
| NC_000011.8:g.17374050C>T | NCBI36 |
| NG_008867.1:g.85976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3724G>A | ||
| ENST00000528374.2:c.714G>A | ||
| ENST00000529967.6:n.2462G>A | ||
| ENST00000532220.2:n.3356G>A | ||
| ENST00000642611.2:n.5323G>A | ||
| ENST00000644057.2:n.566G>A | ||
| ENST00000645004.2:n.1622G>A | ||
| ENST00000682051.1:n.4285G>A | ||
| ENST00000682110.1:n.4338G>A | ||
| ENST00000682140.1:c.3989G>A | ENSP00000507829.1:p.Arg1330Gln | |
| ENST00000682185.1:n.5428G>A | ||
| ENST00000682204.1:c.*2261G>A | ENSP00000507094.1:n.*2261G>A | |
| ENST00000682215.1:n.4705G>A | ||
| ENST00000682288.1:c.*2554G>A | ENSP00000507506.1:n.*2554G>A | |
| ENST00000682442.1:n.4558G>A | ||
| ENST00000682528.1:n.4415G>A | ||
| ENST00000682673.1:n.4282G>A | ||
| ENST00000682805.1:n.4743G>A | ||
| ENST00000682965.1:c.*545G>A | ENSP00000508229.1:n.*545G>A | |
| ENST00000683093.1:n.5422G>A | ||
| ENST00000683136.1:c.4006G>A | ENSP00000507768.1:p.Gly1336Arg | |
| ENST00000683153.1:n.4380G>A | ||
| ENST00000683365.1:n.4440G>A | ||
| ENST00000683377.1:n.4338G>A | ||
| ENST00000683456.1:c.*1260G>A | ENSP00000508318.1:n.*1260G>A | |
| ENST00000683522.1:n.4338G>A | ||
| ENST00000683562.1:c.*2292G>A | ENSP00000508265.1:n.*2292G>A | |
| ENST00000683693.1:n.5770G>A | ||
| ENST00000683725.1:c.4123G>A | ENSP00000507496.1:p.Gly1375Arg | |
| ENST00000684010.1:n.4333G>A | ||
| ENST00000684157.1:n.5323G>A | ||
| ENST00000684253.1:n.4241G>A | ||
| ENST00000684288.1:c.*2295G>A | ENSP00000507143.1:n.*2295G>A | |
| ENST00000684313.1:n.3770G>A | ||
| ENST00000684332.1:n.4411G>A | ||
| ENST00000684371.1:n.4444G>A | ||
| ENST00000684404.1:n.5366G>A | ||
| ENST00000684442.1:n.4562G>A | ||
| ENST00000684555.1:c.*2335G>A | ENSP00000507705.1:n.*2335G>A | |
| ENST00000684571.1:c.3964G>A | ENSP00000506935.1:p.Gly1322Arg | |
| ENST00000684593.1:c.*3828G>A | ENSP00000507005.1:n.*3828G>A | |
| ENST00000684711.1:c.*2519G>A | ENSP00000506841.1:n.*2519G>A | |
| ENST00000302539.9:c.4126G>A | ENSP00000303960.4:p.Gly1376Arg | |
| ENST00000389817.8:c.4123G>A MANE Select | ENSP00000374467.4:p.Gly1375Arg | |
| ENST00000642271.1:c.4120G>A | ENSP00000493749.1:p.Gly1374Arg | |
| ENST00000642579.1:c.2177G>A | ||
| ENST00000642611.1:n.5208G>A | ||
| ENST00000642902.1:c.3905G>A | ||
| ENST00000643260.1:c.4123G>A | ENSP00000494450.1:p.Gly1375Arg | |
| ENST00000643562.1:c.*2245G>A | ENSP00000496124.1:n.*2245G>A | |
| ENST00000643925.1:c.2763G>A | ||
| ENST00000644057.1:n.200G>A | ||
| ENST00000644484.1:c.*3509G>A | ENSP00000493558.1:n.*3509G>A | |
| ENST00000644675.1:c.*2295G>A | ENSP00000494567.1:n.*2295G>A | |
| ENST00000644757.1:c.*3202+337G>A | ENSP00000495085.1:n.*3202+337G>A | |
| ENST00000644772.1:c.4189G>A | ENSP00000494321.1:p.Gly1397Arg | |
| ENST00000645004.1:n.1816G>A | ||
| ENST00000645076.1:c.3322G>A | ||
| ENST00000645417.1:c.1311G>A | ||
| ENST00000645744.1:c.*3888G>A | ENSP00000494564.1:n.*3888G>A | |
| ENST00000645760.1:c.4544G>A | ||
| ENST00000645884.1:c.*1406G>A | ENSP00000495516.1:n.*1406G>A | |
| ENST00000646003.1:c.*2225G>A | ENSP00000495259.1:n.*2225G>A | |
| ENST00000646207.1:c.*2960G>A | ENSP00000495025.1:n.*2960G>A | |
| ENST00000646276.1:c.*3527G>A | ENSP00000496070.1:n.*3527G>A | |
| ENST00000646592.1:c.3429G>A | ||
| ENST00000646902.1:c.4090G>A | ENSP00000494101.1:p.Gly1364Arg | |
| ENST00000646993.1:c.*2665G>A | ENSP00000493720.1:n.*2665G>A | |
| ENST00000647013.1:c.4129G>A | ENSP00000496741.1:n.4129G>A | |
| ENST00000647015.1:c.3874G>A | ENSP00000495389.1:p.Gly1292Arg | |
| ENST00000647086.1:c.*3709G>A | ENSP00000493677.1:n.*3709G>A | |
| ENST00000647158.1:c.*2410G>A | ENSP00000495744.1:n.*2410G>A | |
| ENST00000302539.8:c.4126G>A | ENSP00000303960.4:p.Gly1376Arg | |
| ENST00000389817.7:c.4123G>A | ENSP00000374467.3:p.Gly1375Arg | |
| ENST00000528374.1:c.605G>A | ||
| ENST00000532220.1:n.597G>A | ||
| NM_000352.4:c.4123G>A | NP_000343.2:p.Gly1375Arg | |
| NM_001287174.1:c.4126G>A | NP_001274103.1:p.Gly1376Arg | |
| XM_011520331.1:c.4123G>A | XP_011518633.1:p.Gly1375Arg | |
| XM_011520332.1:c.4126G>A | XP_011518634.1:p.Gly1376Arg | |
| XM_011520333.1:c.2623G>A | XP_011518635.1:p.Gly875Arg | |
| XR_930890.1:n.4189G>A | ||
| NM_001351295.1:c.4189G>A | NP_001338224.1:p.Gly1397Arg | |
| NM_001351296.1:c.4123G>A | NP_001338225.1:p.Gly1375Arg | |
| NM_001351297.1:c.4120G>A | NP_001338226.1:p.Gly1374Arg | |
| NR_147094.1:n.4418G>A | ||
| XM_017018197.2:c.4192G>A | XP_016873686.1:p.Gly1398Arg | |
| XM_017018199.1:c.4189G>A | XP_016873688.1:p.Gly1397Arg | |
| XM_017018201.2:c.4192G>A | XP_016873690.1:p.Gly1398Arg | |
| XM_017018202.1:c.2689G>A | XP_016873691.1:p.Gly897Arg | |
| XM_017018204.1:c.2080G>A | XP_016873693.1:p.Gly694Arg | |
| XM_024448668.1:c.2491G>A | XP_024304436.1:p.Gly831Arg | |
| XR_001747945.2:n.4264G>A | ||
| XR_001747946.2:n.4195G>A | ||
| XR_002957189.1:n.5845G>A | ||
| NM_000352.6:c.4123G>A MANE Select | NP_000343.2:p.Gly1375Arg | |
| NM_001287174.2:c.4126G>A | NP_001274103.1:p.Gly1376Arg | |
| NM_001351295.2:c.4189G>A | NP_001338224.1:p.Gly1397Arg | |
| NM_001351296.2:c.4123G>A | NP_001338225.1:p.Gly1375Arg | |
| NM_001351297.2:c.4120G>A | NP_001338226.1:p.Gly1374Arg | |
| NR_147094.2:n.4418G>A | ||
| NM_001287174.3:c.4126G>A | NP_001274103.1:p.Gly1376Arg |