Linked Data
ClinVar Variation Id:
194124
dbSNP Id:
rs117033008
ExAC:
16:56533795 C / T
gnomAD v2:
16-56533795-C-T
gnomAD v3:
16-56499883-C-T
gnomAD v4:
16-56499883-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56499883C>T , CM000678.2:g.56499883C>T | GRCh38 |
| NC_000016.9:g.56533795C>T , CM000678.1:g.56533795C>T | GRCh37 |
| NC_000016.8:g.55091296C>T | NCBI36 |
| NG_009312.1:g.25401G>A | |
| NG_009312.2:g.25142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1284G>A | ENSP00000454986.2:n.1284G>A | |
| ENST00000562012.2:c.*1251G>A | ENSP00000455651.2:n.*1251G>A | |
| ENST00000562813.2:n.1037G>A | ||
| ENST00000564459.6:n.149G>A | ||
| ENST00000565781.6:n.3744G>A | ||
| ENST00000565859.2:n.2496G>A | ||
| ENST00000566210.2:n.1851G>A | ||
| ENST00000566410.2:n.3727G>A | ||
| ENST00000566452.2:n.117G>A | ||
| ENST00000566495.2:n.391G>A | ||
| ENST00000568104.6:c.1422G>A | ENSP00000456289.1:p.Ser474= | |
| ENST00000569192.6:n.402G>A | ||
| ENST00000618027.2:n.201G>A | ||
| ENST00000682000.1:n.980G>A | ||
| ENST00000682001.1:n.2451G>A | ||
| ENST00000682005.1:n.1413G>A | ||
| ENST00000682038.1:c.*686G>A | ENSP00000508404.1:n.*686G>A | |
| ENST00000682047.1:c.1422G>A | ENSP00000507699.1:p.Ser474= | |
| ENST00000682088.1:c.*3154G>A | ENSP00000508064.1:n.*3154G>A | |
| ENST00000682096.1:n.2663G>A | ||
| ENST00000682113.1:n.2430G>A | ||
| ENST00000682146.1:n.2454G>A | ||
| ENST00000682187.1:c.*846G>A | ENSP00000507203.1:n.*846G>A | |
| ENST00000682188.1:c.1422G>A | ENSP00000507655.1:p.Ser474= | |
| ENST00000682201.1:n.1413G>A | ||
| ENST00000682205.1:c.1422G>A | ENSP00000508377.1:p.Ser474= | |
| ENST00000682348.1:c.*471G>A | ENSP00000506965.1:n.*471G>A | |
| ENST00000682360.1:c.825G>A | ENSP00000508007.1:p.Ser275= | |
| ENST00000682370.1:n.2663G>A | ||
| ENST00000682420.1:n.1844G>A | ||
| ENST00000682429.1:c.1250G>A | ENSP00000506827.1:p.Arg417Gln | |
| ENST00000682449.1:c.*173G>A | ENSP00000507836.1:n.*173G>A | |
| ENST00000682470.1:c.1422G>A | ENSP00000507654.1:p.Ser474= | |
| ENST00000682473.1:n.1387G>A | ||
| ENST00000682482.1:c.1296G>A | ENSP00000507903.1:p.Ser432= | |
| ENST00000682492.1:n.1510G>A | ||
| ENST00000682493.1:c.1422G>A | ENSP00000506778.1:p.Ser474= | |
| ENST00000682543.1:c.*846G>A | ENSP00000507592.1:n.*846G>A | |
| ENST00000682597.1:n.3609G>A | ||
| ENST00000682658.1:c.*454G>A | ENSP00000507773.1:n.*454G>A | |
| ENST00000682705.1:n.2491G>A | ||
| ENST00000682723.1:c.825G>A | ENSP00000507115.1:p.Ser275= | |
| ENST00000682735.1:c.*1881G>A | ENSP00000507007.1:n.*1881G>A | |
| ENST00000682737.1:c.825G>A | ENSP00000506876.1:p.Ser275= | |
| ENST00000682757.1:n.2990G>A | ||
| ENST00000682855.1:c.1422G>A | ENSP00000507027.1:p.Ser474= | |
| ENST00000682857.1:n.1635G>A | ||
| ENST00000682875.1:c.1422G>A | ENSP00000507771.1:p.Ser474= | |
| ENST00000682930.1:c.1347G>A | ENSP00000507981.1:p.Ser449= | |
| ENST00000682948.1:n.2454G>A | ||
| ENST00000682960.1:n.2454G>A | ||
| ENST00000683008.1:n.3609G>A | ||
| ENST00000683020.1:c.1250G>A | ENSP00000507944.1:p.Arg417Gln | |
| ENST00000683099.1:n.2663G>A | ||
| ENST00000683170.1:n.1938G>A | ||
| ENST00000683212.1:c.1250G>A | ENSP00000507839.1:p.Arg417Gln | |
| ENST00000683248.1:n.2171G>A | ||
| ENST00000683343.1:n.2276G>A | ||
| ENST00000683347.1:n.1629G>A | ||
| ENST00000683384.1:c.1443G>A | ENSP00000508330.1:n.1443G>A | |
| ENST00000683396.1:n.2990G>A | ||
| ENST00000683410.1:n.1844G>A | ||
| ENST00000683443.1:n.1056G>A | ||
| ENST00000683485.1:n.2781G>A | ||
| ENST00000683504.1:n.5804G>A | ||
| ENST00000683533.1:c.*846G>A | ENSP00000508296.1:n.*846G>A | |
| ENST00000683609.1:n.2282G>A | ||
| ENST00000683644.1:c.*471G>A | ENSP00000507914.1:n.*471G>A | |
| ENST00000683660.1:n.1635G>A | ||
| ENST00000683669.1:n.1305G>A | ||
| ENST00000683690.1:c.*1665G>A | ENSP00000508152.1:n.*1665G>A | |
| ENST00000683719.1:n.1405G>A | ||
| ENST00000683757.1:n.1411G>A | ||
| ENST00000683858.1:c.1374G>A | ENSP00000507657.1:p.Ser458= | |
| ENST00000683875.1:c.1194G>A | ENSP00000507602.1:p.Ser398= | |
| ENST00000683904.1:n.3727G>A | ||
| ENST00000683910.1:n.2908G>A | ||
| ENST00000683959.1:c.*471G>A | ENSP00000508309.1:n.*471G>A | |
| ENST00000683976.1:c.*971G>A | ENSP00000507183.1:n.*971G>A | |
| ENST00000683978.1:n.1565G>A | ||
| ENST00000683992.1:c.*1062G>A | ENSP00000508144.1:n.*1062G>A | |
| ENST00000684020.1:n.1844G>A | ||
| ENST00000684044.1:n.2282G>A | ||
| ENST00000684057.1:n.2212G>A | ||
| ENST00000684076.1:n.1593G>A | ||
| ENST00000684128.1:n.2990G>A | ||
| ENST00000684194.1:n.1844G>A | ||
| ENST00000684205.1:n.3101G>A | ||
| ENST00000684246.1:c.*1062G>A | ENSP00000508273.1:n.*1062G>A | |
| ENST00000684388.1:c.342G>A | ENSP00000507647.1:p.Ser114= | |
| ENST00000684402.1:n.2663G>A | ||
| ENST00000684446.1:n.2781G>A | ||
| ENST00000684531.1:n.1655G>A | ||
| ENST00000684635.1:c.1317G>A | ENSP00000507335.1:p.Ser439= | |
| ENST00000684640.1:c.1256G>A | ENSP00000507292.1:n.1256G>A | |
| ENST00000684673.1:c.1422G>A | ENSP00000507746.1:p.Ser474= | |
| ENST00000684684.1:c.*674G>A | ENSP00000507026.1:n.*674G>A | |
| ENST00000245157.11:c.1422G>A MANE Select | ENSP00000245157.5:p.Ser474= | |
| ENST00000245157.9:c.1422G>A | ENSP00000245157.5:p.Ser474= | |
| ENST00000561877.1:c.118G>A | ||
| ENST00000562012.1:c.814G>A | ENSP00000455651.1:n.814G>A | |
| ENST00000562813.1:n.1037G>A | ||
| ENST00000565781.5:n.3744G>A | ||
| ENST00000566210.1:n.348G>A | ||
| ENST00000566410.1:n.41G>A | ||
| ENST00000566452.1:n.117G>A | ||
| ENST00000566495.1:n.391G>A | ||
| ENST00000568104.5:c.1422G>A | ENSP00000456289.1:p.Ser474= | |
| ENST00000569192.5:n.96G>A | ||
| NM_031885.3:c.1422G>A | NP_114091.3:p.Ser474= | |
| XM_005256080.1:c.1422G>A | XP_005256137.1:p.Ser474= | |
| XM_005256081.1:c.1422G>A | XP_005256138.1:p.Ser474= | |
| XM_005256082.1:c.1422G>A | XP_005256139.1:p.Ser474= | |
| XR_933378.1:n.1483G>A | ||
| XR_933379.1:n.1483G>A | ||
| XR_933380.1:n.1483G>A | ||
| XM_005256080.2:c.1422G>A | XP_005256137.1:p.Ser474= | |
| XR_001751958.1:n.1655G>A | ||
| XR_001751959.2:n.1655G>A | ||
| XR_001751960.1:n.1483G>A | ||
| XR_001751961.1:n.1483G>A | ||
| XR_933380.2:n.1483G>A | ||
| NM_031885.4:c.1422G>A | NP_114091.3:p.Ser474= | |
| NM_001377456.1:c.1422G>A | NP_001364385.1:p.Ser474= | |
| NM_031885.5:c.1422G>A MANE Select | NP_114091.4:p.Ser474= | |
| NR_165293.1:n.1584G>A | ||
| NR_165294.1:n.1584G>A | ||
| NR_165295.1:n.1412G>A | ||
| NR_165296.1:n.1412G>A | ||
| NR_165297.1:n.1412G>A |