gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93797345C>T , CM000670.2:g.93797345C>T | GRCh38 |
| NC_000008.10:g.94809573C>T , CM000670.1:g.94809573C>T | GRCh37 |
| NC_000008.9:g.94878749C>T | NCBI36 |
| NG_009190.1:g.47502C>T , LRG_688:g.47502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1975C>T | ENSP00000314488.4:p.Arg659Ter | |
| ENST00000409623.8:c.1930C>T | ENSP00000386966.4:p.Arg644Ter | |
| ENST00000452276.6:c.1975C>T | ENSP00000388671.2:p.Arg659Ter | |
| ENST00000453906.6:c.1093C>T | ENSP00000403035.2:p.Arg365Ter | |
| ENST00000518896.2:c.266C>T | ENSP00000507992.1:n.266C>T | |
| ENST00000520680.2:c.2098C>T | ENSP00000428785.2:p.Arg700Ter | |
| ENST00000521517.6:c.1876C>T | ENSP00000430740.2:p.Arg626Ter | |
| ENST00000681998.1:c.1796C>T | ENSP00000506773.1:n.1796C>T | |
| ENST00000682036.1:c.1216C>T | ENSP00000508390.1:p.Arg406Ter | |
| ENST00000682577.1:c.1748C>T | ENSP00000506963.1:n.1748C>T | |
| ENST00000682624.1:c.*1549C>T | ENSP00000508343.1:n.*1549C>T | |
| ENST00000682700.1:c.1975C>T | ENSP00000507627.1:p.Arg659Ter | |
| ENST00000682744.1:n.1513C>T | ||
| ENST00000682804.1:n.1798C>T | ||
| ENST00000682837.1:c.1464C>T | ENSP00000507920.1:n.1464C>T | |
| ENST00000682935.1:n.4025C>T | ||
| ENST00000682984.1:c.1636C>T | ENSP00000507209.1:p.Arg546Ter | |
| ENST00000683078.1:c.1730C>T | ENSP00000506796.1:n.1730C>T | |
| ENST00000683223.1:c.1707C>T | ENSP00000507685.1:n.1707C>T | |
| ENST00000683238.1:n.3199C>T | ||
| ENST00000683249.1:n.3572C>T | ||
| ENST00000683336.1:c.1796C>T | ENSP00000507695.1:n.1796C>T | |
| ENST00000683362.1:c.1636C>T | ENSP00000506985.1:p.Arg546Ter | |
| ENST00000683850.1:n.1898C>T | ||
| ENST00000683919.1:c.1905C>T | ENSP00000507617.1:n.1905C>T | |
| ENST00000683953.1:c.1886C>T | ENSP00000508375.1:n.1886C>T | |
| ENST00000684023.1:c.1952C>T | ENSP00000507461.1:n.1952C>T | |
| ENST00000684064.1:c.1666C>T | ENSP00000508192.1:p.Arg556Ter | |
| ENST00000684089.1:n.3525C>T | ||
| ENST00000684149.1:c.*1154C>T | ENSP00000507943.1:n.*1154C>T | |
| ENST00000684343.1:c.172C>T | ENSP00000507591.1:p.Arg58Ter | |
| ENST00000684416.1:n.1934C>T | ||
| ENST00000684540.1:c.1905C>T | ENSP00000507987.1:n.1905C>T | |
| ENST00000453321.8:c.1975C>T MANE Select | ENSP00000389998.3:p.Arg659Ter | |
| ENST00000323130.7:c.1945C>T | ENSP00000314488.3:p.Arg649Ter | |
| ENST00000409623.7:c.1732C>T | ENSP00000386966.3:p.Arg578Ter | |
| ENST00000453321.7:c.1975C>T | ENSP00000389998.3:p.Arg659Ter | |
| ENST00000474944.5:n.1113C>T | ||
| ENST00000519845.5:n.707C>T | ||
| ENST00000523230.5:n.510C>T | ||
| NM_001142301.1:c.1732C>T , LRG_688t2:c.1732C>T | NP_001135773.1:p.Arg578Ter | |
| NM_153704.5:c.1975C>T , LRG_688t1:c.1975C>T | NP_714915.3:p.Arg659Ter | |
| NR_024522.1:n.2046C>T | ||
| XM_006716686.2:c.1672C>T | XP_006716749.1:p.Arg558Ter | |
| XM_006716687.2:c.1375C>T | XP_006716750.1:p.Arg459Ter | |
| XM_011517363.1:c.1093C>T | XP_011515665.1:p.Arg365Ter | |
| XR_428387.1:n.2033C>T | ||
| XR_928360.1:n.2033C>T | ||
| XR_928361.1:n.2033C>T | ||
| XR_928362.1:n.2033C>T | ||
| XM_006716686.4:c.1672C>T | XP_006716749.1:p.Arg558Ter | |
| XM_011517363.3:c.1093C>T | XP_011515665.1:p.Arg365Ter | |
| XM_024447326.1:c.1321C>T | XP_024303094.1:p.Arg441Ter | |
| XR_001745619.2:n.2016C>T | ||
| XR_428387.2:n.2016C>T | ||
| XR_928360.3:n.2016C>T | ||
| XR_928362.3:n.2016C>T | ||
| NM_153704.6:c.1975C>T MANE Select | NP_714915.3:p.Arg659Ter | |
| NR_024522.2:n.1996C>T |