Linked Data
ClinVar Variation Id:
252670
dbSNP Id:
rs367658497
ExAC:
11:1956135 C / T
gnomAD v2:
11-1956135-C-T
gnomAD v3:
11-1934905-C-T
gnomAD v4:
11-1934905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1934905C>T , CM000673.2:g.1934905C>T | GRCh38 |
| NC_000011.9:g.1956135C>T , CM000673.1:g.1956135C>T | GRCh37 |
| NC_000011.8:g.1912711C>T | NCBI36 |
| NG_013085.1:g.20337C>T | |
| NG_013085.2:g.20337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706488.1:c.661C>T | ENSP00000516410.1:p.Arg221Cys | |
| ENST00000278317.11:c.667C>T MANE Select | ENSP00000278317.6:p.Arg223Cys | |
| ENST00000381558.6:c.643C>T | ENSP00000370970.1:p.Arg215Cys | |
| ENST00000639560.1:n.777C>T | ||
| ENST00000641119.1:c.661C>T | ENSP00000492914.1:p.Arg221Cys | |
| ENST00000641225.1:c.463C>T | ENSP00000493372.1:p.Arg155Cys | |
| ENST00000641787.1:c.643C>T | ENSP00000493331.1:p.Arg215Cys | |
| ENST00000278317.10:c.667C>T | ENSP00000278317.6:p.Arg223Cys | |
| ENST00000344578.8:c.628C>T | ENSP00000344870.4:p.Arg210Cys | |
| ENST00000381557.6:c.625C>T | ENSP00000370969.2:p.Arg209Cys | |
| ENST00000381558.5:c.643C>T | ENSP00000370970.1:p.Arg215Cys | |
| ENST00000381563.8:c.676C>T | ENSP00000370975.4:p.Arg226Cys | |
| ENST00000381579.7:c.643C>T | ENSP00000370991.3:p.Arg215Cys | |
| ENST00000381589.7:c.661C>T | ENSP00000371001.3:p.Arg221Cys | |
| ENST00000397301.5:c.700C>T | ENSP00000380468.1:p.Arg234Cys | |
| ENST00000397304.6:c.610C>T | ENSP00000380471.2:p.Arg204Cys | |
| ENST00000446240.1:c.610C>T | ENSP00000413203.1:p.Arg204Cys | |
| ENST00000453458.5:c.610C>T | ENSP00000415614.1:p.Arg204Cys | |
| ENST00000493234.1:n.437C>T | ||
| NM_001042780.2:c.643C>T | NP_001036245.1:p.Arg215Cys | |
| NM_001042781.2:c.661C>T | NP_001036246.1:p.Arg221Cys | |
| NM_001042782.2:c.643C>T | NP_001036247.1:p.Arg215Cys | |
| NM_001297646.1:c.643C>T | NP_001284575.1:p.Arg215Cys | |
| NM_006757.3:c.667C>T | NP_006748.1:p.Arg223Cys | |
| XM_006718288.2:c.715C>T | XP_006718351.1:p.Arg239Cys | |
| XM_006718290.2:c.700C>T | XP_006718353.1:p.Arg234Cys | |
| XM_006718291.2:c.688C>T | XP_006718354.1:p.Arg230Cys | |
| XM_006718292.2:c.679C>T | XP_006718355.1:p.Arg227Cys | |
| XM_006718293.1:c.676C>T | XP_006718356.1:p.Arg226Cys | |
| XM_006718294.2:c.676C>T | XP_006718357.1:p.Arg226Cys | |
| XM_006718295.2:c.673C>T | XP_006718358.1:p.Arg225Cys | |
| XM_006718296.2:c.664C>T | XP_006718359.1:p.Arg222Cys | |
| XM_006718297.2:c.655C>T | XP_006718360.1:p.Arg219Cys | |
| XM_006718298.2:c.649C>T | XP_006718361.1:p.Arg217Cys | |
| XM_006718299.1:c.640C>T | XP_006718362.1:p.Arg214Cys | |
| XM_006718300.2:c.628C>T | XP_006718363.1:p.Arg210Cys | |
| XM_006718301.2:c.628C>T | XP_006718364.1:p.Arg210Cys | |
| XM_006718302.2:c.610C>T | XP_006718365.1:p.Arg204Cys | |
| XM_011520342.1:c.700C>T | XP_011518644.1:p.Arg234Cys | |
| XM_011520343.1:c.700C>T | XP_011518645.1:p.Arg234Cys | |
| NM_001363561.1:c.676C>T | NP_001350490.1:p.Arg226Cys | |
| XM_006718288.3:c.715C>T | XP_006718351.1:p.Arg239Cys | |
| XM_006718290.3:c.700C>T | XP_006718353.1:p.Arg234Cys | |
| XM_006718294.3:c.676C>T | XP_006718357.1:p.Arg226Cys | |
| XM_006718296.3:c.664C>T | XP_006718359.1:p.Arg222Cys | |
| XM_006718299.2:c.640C>T | XP_006718362.1:p.Arg214Cys | |
| XM_006718300.3:c.628C>T | XP_006718363.1:p.Arg210Cys | |
| XM_006718302.3:c.610C>T | XP_006718365.1:p.Arg204Cys | |
| XM_011520343.2:c.700C>T | XP_011518645.1:p.Arg234Cys | |
| XM_017018205.1:c.661C>T | XP_016873694.1:p.Arg221Cys | |
| XM_017018206.1:c.700C>T | XP_016873695.1:p.Arg234Cys | |
| XM_017018207.1:c.688C>T | XP_016873696.1:p.Arg230Cys | |
| XM_017018208.1:c.679C>T | XP_016873697.1:p.Arg227Cys | |
| XM_017018209.1:c.664C>T | XP_016873698.1:p.Arg222Cys | |
| XM_017018210.1:c.655C>T | XP_016873699.1:p.Arg219Cys | |
| XM_017018211.1:c.649C>T | XP_016873700.1:p.Arg217Cys | |
| XM_017018212.1:c.646C>T | XP_016873701.1:p.Arg216Cys | |
| XM_017018213.1:c.631C>T | XP_016873702.1:p.Arg211Cys | |
| XM_017018214.1:c.628C>T | XP_016873703.1:p.Arg210Cys | |
| XM_017018215.1:c.622C>T | XP_016873704.1:p.Arg208Cys | |
| XM_017018216.1:c.682C>T | XP_016873705.1:p.Arg228Cys | |
| XM_017018217.1:c.661C>T | XP_016873706.1:p.Arg221Cys | |
| XM_017018218.1:c.649C>T | XP_016873707.1:p.Arg217Cys | |
| XM_017018219.1:c.610C>T | XP_016873708.1:p.Arg204Cys | |
| XM_024448669.1:c.661C>T | XP_024304437.1:p.Arg221Cys | |
| XM_024448670.1:c.643C>T | XP_024304438.1:p.Arg215Cys | |
| XM_024448671.1:c.640C>T | XP_024304439.1:p.Arg214Cys | |
| XM_024448672.1:c.622C>T | XP_024304440.1:p.Arg208Cys | |
| NM_001367842.1:c.661C>T | NP_001354771.1:p.Arg221Cys | |
| NM_001367843.1:c.661C>T | NP_001354772.1:p.Arg221Cys | |
| NM_001367844.1:c.643C>T | NP_001354773.1:p.Arg215Cys | |
| NM_001367845.1:c.643C>T | NP_001354774.1:p.Arg215Cys | |
| NM_001367846.1:c.700C>T | NP_001354775.1:p.Arg234Cys | |
| NM_001367847.1:c.676C>T | NP_001354776.1:p.Arg226Cys | |
| NM_001367848.1:c.664C>T | NP_001354777.1:p.Arg222Cys | |
| NM_001367849.1:c.655C>T | NP_001354778.1:p.Arg219Cys | |
| NM_001367850.1:c.610C>T | NP_001354779.1:p.Arg204Cys | |
| NM_001367851.1:c.463C>T | NP_001354780.1:p.Arg155Cys | |
| NM_001367852.1:c.463C>T | NP_001354781.1:p.Arg155Cys | |
| NM_006757.4:c.667C>T MANE Select | NP_006748.1:p.Arg223Cys | |
| NM_001042780.3:c.643C>T | NP_001036245.1:p.Arg215Cys | |
| NM_001042781.3:c.661C>T | NP_001036246.1:p.Arg221Cys | |
| NM_001042782.3:c.643C>T | NP_001036247.1:p.Arg215Cys | |
| NM_001297646.2:c.643C>T | NP_001284575.1:p.Arg215Cys | |
| NM_001363561.2:c.676C>T | NP_001350490.1:p.Arg226Cys |