Linked Data
ClinVar Variation Id:
210076
dbSNP Id:
rs797045209
gnomAD v3:
11-17404525-G-A
gnomAD v4:
11-17404525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404525G>A , CM000673.2:g.17404525G>A | GRCh38 |
| NC_000011.9:g.17426072G>A , CM000673.1:g.17426072G>A | GRCh37 |
| NC_000011.8:g.17382648G>A | NCBI36 |
| NG_008867.1:g.77378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3113C>T | ||
| ENST00000528374.2:c.123C>T | ||
| ENST00000529967.6:n.1883C>T | ||
| ENST00000532220.2:n.1276C>T | ||
| ENST00000642611.2:n.3613C>T | ||
| ENST00000645004.2:n.1043C>T | ||
| ENST00000682051.1:n.3560C>T | ||
| ENST00000682110.1:n.3613C>T | ||
| ENST00000682140.1:c.3541C>T | ENSP00000507829.1:p.Arg1181Trp | |
| ENST00000682185.1:n.4849C>T | ||
| ENST00000682204.1:c.*1682C>T | ENSP00000507094.1:n.*1682C>T | |
| ENST00000682215.1:n.3610C>T | ||
| ENST00000682288.1:c.*1975C>T | ENSP00000507506.1:n.*1975C>T | |
| ENST00000682442.1:n.3833C>T | ||
| ENST00000682528.1:n.3690C>T | ||
| ENST00000682673.1:n.3557C>T | ||
| ENST00000682805.1:n.3610C>T | ||
| ENST00000682965.1:c.3396+969C>T | ENSP00000508229.1:n.3396+969C>T | |
| ENST00000683093.1:n.3712C>T | ||
| ENST00000683136.1:c.3541C>T | ENSP00000507768.1:p.Arg1181Trp | |
| ENST00000683153.1:n.3769C>T | ||
| ENST00000683365.1:n.3715C>T | ||
| ENST00000683377.1:n.3613C>T | ||
| ENST00000683456.1:c.*681C>T | ENSP00000508318.1:n.*681C>T | |
| ENST00000683522.1:n.3613C>T | ||
| ENST00000683562.1:c.*1713C>T | ENSP00000508265.1:n.*1713C>T | |
| ENST00000683693.1:n.3690C>T | ||
| ENST00000683725.1:c.3544C>T | ENSP00000507496.1:p.Arg1182Trp | |
| ENST00000684010.1:n.3608C>T | ||
| ENST00000684157.1:n.3613C>T | ||
| ENST00000684253.1:n.3516C>T | ||
| ENST00000684288.1:c.*1716C>T | ENSP00000507143.1:n.*1716C>T | |
| ENST00000684313.1:n.3045C>T | ||
| ENST00000684332.1:n.3686C>T | ||
| ENST00000684371.1:n.3719C>T | ||
| ENST00000684404.1:n.3656C>T | ||
| ENST00000684442.1:n.3613C>T | ||
| ENST00000684555.1:c.*1756C>T | ENSP00000507705.1:n.*1756C>T | |
| ENST00000684571.1:c.3385C>T | ENSP00000506935.1:p.Arg1129Trp | |
| ENST00000684593.1:c.*3249C>T | ENSP00000507005.1:n.*3249C>T | |
| ENST00000684711.1:c.*1940C>T | ENSP00000506841.1:n.*1940C>T | |
| ENST00000302539.9:c.3547C>T | ENSP00000303960.4:p.Arg1183Trp | |
| ENST00000389817.8:c.3544C>T MANE Select | ENSP00000374467.4:p.Arg1182Trp | |
| ENST00000642271.1:c.3541C>T | ENSP00000493749.1:p.Arg1181Trp | |
| ENST00000642579.1:c.1628C>T | ||
| ENST00000642611.1:n.3498C>T | ||
| ENST00000642902.1:c.3326C>T | ||
| ENST00000643260.1:c.3544C>T | ENSP00000494450.1:p.Arg1182Trp | |
| ENST00000643562.1:c.*1520C>T | ENSP00000496124.1:n.*1520C>T | |
| ENST00000643925.1:c.1668C>T | ||
| ENST00000644447.1:c.1900C>T | ENSP00000496282.1:p.Arg634Trp | |
| ENST00000644484.1:c.*1799C>T | ENSP00000493558.1:n.*1799C>T | |
| ENST00000644675.1:c.*1716C>T | ENSP00000494567.1:n.*1716C>T | |
| ENST00000644757.1:c.*1829C>T | ENSP00000495085.1:n.*1829C>T | |
| ENST00000644772.1:c.3610C>T | ENSP00000494321.1:p.Arg1204Trp | |
| ENST00000645004.1:n.683C>T | ||
| ENST00000645076.1:c.2743C>T | ||
| ENST00000645417.1:c.710C>T | ||
| ENST00000645744.1:c.*1808C>T | ENSP00000494564.1:n.*1808C>T | |
| ENST00000645760.1:c.3819C>T | ||
| ENST00000645884.1:c.*681C>T | ENSP00000495516.1:n.*681C>T | |
| ENST00000646003.1:c.*1500C>T | ENSP00000495259.1:n.*1500C>T | |
| ENST00000646207.1:c.*2011C>T | ENSP00000495025.1:n.*2011C>T | |
| ENST00000646276.1:c.*1817C>T | ENSP00000496070.1:n.*1817C>T | |
| ENST00000646592.1:c.2850C>T | ||
| ENST00000646902.1:c.3541C>T | ENSP00000494101.1:p.Arg1181Trp | |
| ENST00000646993.1:c.*1940C>T | ENSP00000493720.1:n.*1940C>T | |
| ENST00000647013.1:c.3550C>T | ENSP00000496741.1:n.3550C>T | |
| ENST00000647015.1:c.3295C>T | ENSP00000495389.1:p.Arg1099Trp | |
| ENST00000647086.1:c.*3274C>T | ENSP00000493677.1:n.*3274C>T | |
| ENST00000647158.1:c.*1685C>T | ENSP00000495744.1:n.*1685C>T | |
| ENST00000302539.8:c.3547C>T | ENSP00000303960.4:p.Arg1183Trp | |
| ENST00000389817.7:c.3544C>T | ENSP00000374467.3:p.Arg1182Trp | |
| ENST00000524561.1:n.676C>T | ||
| ENST00000527905.5:c.*420C>T | ENSP00000431653.1:n.*420C>T | |
| ENST00000528374.1:c.14C>T | ||
| ENST00000531137.1:n.37C>T | ||
| NM_000352.4:c.3544C>T | NP_000343.2:p.Arg1182Trp | |
| NM_001287174.1:c.3547C>T | NP_001274103.1:p.Arg1183Trp | |
| XM_011520331.1:c.3544C>T | XP_011518633.1:p.Arg1182Trp | |
| XM_011520332.1:c.3547C>T | XP_011518634.1:p.Arg1183Trp | |
| XM_011520333.1:c.2044C>T | XP_011518635.1:p.Arg682Trp | |
| XR_930890.1:n.3610C>T | ||
| XR_930892.1:n.3510C>T | ||
| XR_930893.1:n.3507C>T | ||
| NM_001351295.1:c.3610C>T | NP_001338224.1:p.Arg1204Trp | |
| NM_001351296.1:c.3544C>T | NP_001338225.1:p.Arg1182Trp | |
| NM_001351297.1:c.3541C>T | NP_001338226.1:p.Arg1181Trp | |
| NR_147094.1:n.3693C>T | ||
| XM_017018197.2:c.3613C>T | XP_016873686.1:p.Arg1205Trp | |
| XM_017018199.1:c.3610C>T | XP_016873688.1:p.Arg1204Trp | |
| XM_017018201.2:c.3613C>T | XP_016873690.1:p.Arg1205Trp | |
| XM_017018202.1:c.2110C>T | XP_016873691.1:p.Arg704Trp | |
| XM_017018204.1:c.1501C>T | XP_016873693.1:p.Arg501Trp | |
| XM_024448668.1:c.1912C>T | XP_024304436.1:p.Arg638Trp | |
| XR_001747945.2:n.3685C>T | ||
| XR_001747946.2:n.3616C>T | ||
| XR_002957189.1:n.3765C>T | ||
| NM_000352.6:c.3544C>T MANE Select | NP_000343.2:p.Arg1182Trp | |
| NM_001287174.2:c.3547C>T | NP_001274103.1:p.Arg1183Trp | |
| NM_001351295.2:c.3610C>T | NP_001338224.1:p.Arg1204Trp | |
| NM_001351296.2:c.3544C>T | NP_001338225.1:p.Arg1182Trp | |
| NM_001351297.2:c.3541C>T | NP_001338226.1:p.Arg1181Trp | |
| NR_147094.2:n.3693C>T | ||
| NM_001287174.3:c.3547C>T | NP_001274103.1:p.Arg1183Trp |