Linked Data
ClinVar Variation Id:
418137
dbSNP Id:
rs139842473
ExAC:
16:28488941 G / A
gnomAD v2:
16-28488941-G-A
gnomAD v3:
16-28477620-G-A
gnomAD v4:
16-28477620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477620G>A , CM000678.2:g.28477620G>A | GRCh38 |
| NC_000016.9:g.28488941G>A , CM000678.1:g.28488941G>A | GRCh37 |
| NC_000016.8:g.28396442G>A | NCBI36 |
| NG_008654.2:g.19683C>T , LRG_689:g.19683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1141C>T | ENSP00000329171.9:p.Arg381Trp | |
| ENST00000355477.10:c.1069C>T | ENSP00000347660.7:p.Arg357Trp | |
| ENST00000357857.14:c.1051C>T | ENSP00000350523.9:p.Arg351Trp | |
| ENST00000359984.12:c.1213C>T | ENSP00000353073.9:p.Arg405Trp | |
| ENST00000360019.8:c.1141C>T | ENSP00000353116.3:p.Arg381Trp | |
| ENST00000395653.9:c.754C>T | ENSP00000379014.5:p.Arg252Trp | |
| ENST00000561689.6:n.1626C>T | ||
| ENST00000564091.6:c.553C>T | ENSP00000454466.2:p.Arg185Trp | |
| ENST00000565316.6:c.1162C>T | ENSP00000456117.1:p.Arg388Trp | |
| ENST00000567963.6:c.1051C>T | ENSP00000455387.2:p.Arg351Trp | |
| ENST00000568076.6:n.1642C>T | ||
| ENST00000568422.6:c.*450C>T | ENSP00000455549.2:n.*450C>T | |
| ENST00000568452.6:n.1444C>T | ||
| ENST00000569430.7:c.1213C>T | ENSP00000454229.1:p.Arg405Trp | |
| ENST00000628023.3:c.*509C>T | ENSP00000486178.1:n.*509C>T | |
| ENST00000635861.1:c.*865C>T | ENSP00000490034.1:n.*865C>T | |
| ENST00000635887.1:c.1213C>T | ENSP00000490709.1:p.Arg405Trp | |
| ENST00000635958.1:n.1620C>T | ||
| ENST00000636017.1:c.*737C>T | ENSP00000490538.1:n.*737C>T | |
| ENST00000636078.1:n.1335C>T | ||
| ENST00000636147.2:c.1213C>T MANE Select | ENSP00000490105.1:p.Arg405Trp | |
| ENST00000636172.1:c.*737C>T | ENSP00000490505.1:n.*737C>T | |
| ENST00000636228.1:c.907C>T | ENSP00000489627.1:p.Arg303Trp | |
| ENST00000636351.1:n.1107C>T | ||
| ENST00000636503.1:c.*243C>T | ENSP00000489824.1:n.*243C>T | |
| ENST00000636766.1:c.1213C>T | ENSP00000489841.1:p.Arg405Trp | |
| ENST00000636839.1:n.1709C>T | ||
| ENST00000636853.1:n.2226C>T | ||
| ENST00000636866.1:c.*8C>T | ENSP00000490880.1:n.*8C>T | |
| ENST00000636907.1:n.1364C>T | ||
| ENST00000636977.1:n.2705C>T | ||
| ENST00000637050.1:n.1602C>T | ||
| ENST00000637100.1:c.1006-3358C>T | ENSP00000490394.1:n.1006-3358C>T | |
| ENST00000637107.1:c.*737C>T | ENSP00000490248.1:n.*737C>T | |
| ENST00000637184.1:c.*243C>T | ENSP00000489952.1:n.*243C>T | |
| ENST00000637299.1:c.*1022C>T | ENSP00000489823.1:n.*1022C>T | |
| ENST00000637376.1:c.*243C>T | ENSP00000490758.1:n.*243C>T | |
| ENST00000637378.1:c.228+4485C>T | ENSP00000490831.1:n.228+4485C>T | |
| ENST00000637578.1:c.*737C>T | ENSP00000490206.1:n.*737C>T | |
| ENST00000637699.1:c.1124C>T | ENSP00000490049.1:n.1124C>T | |
| ENST00000637745.1:c.650C>T | ||
| ENST00000637871.1:c.*911C>T | ENSP00000490670.1:n.*911C>T | |
| ENST00000638036.1:c.375C>T | ||
| ENST00000333496.13:c.1141C>T | ENSP00000329171.9:p.Arg381Trp | |
| ENST00000355477.9:c.*450C>T | ENSP00000347660.6:n.*450C>T | |
| ENST00000357806.11:c.916C>T | ENSP00000350457.7:p.Arg306Trp | |
| ENST00000357857.13:c.1051C>T | ENSP00000350523.9:p.Arg351Trp | |
| ENST00000359984.11:c.907C>T | ENSP00000353073.8:p.Arg303Trp | |
| ENST00000360019.6:c.1213C>T | ENSP00000353116.2:p.Arg405Trp | |
| ENST00000395653.8:c.913C>T | ENSP00000379014.4:p.Arg305Trp | |
| ENST00000561689.5:n.1182C>T | ||
| ENST00000563874.5:n.2741C>T | ||
| ENST00000564091.5:c.302C>T | ||
| ENST00000565140.5:c.1121C>T | ENSP00000455342.1:n.1121C>T | |
| ENST00000565316.5:c.1162C>T | ENSP00000456117.1:p.Arg388Trp | |
| ENST00000565354.5:n.526C>T | ||
| ENST00000566057.5:c.827C>T | ENSP00000456693.1:n.827C>T | |
| ENST00000567963.5:c.922C>T | ENSP00000455387.1:p.Arg308Trp | |
| ENST00000568076.5:n.1124C>T | ||
| ENST00000568224.4:c.979C>T | ENSP00000454253.1:p.Arg327Trp | |
| ENST00000568422.5:c.*450C>T | ENSP00000455549.1:n.*450C>T | |
| ENST00000568452.5:n.1341C>T | ||
| ENST00000569030.5:c.1005C>T | ENSP00000454680.1:n.1005C>T | |
| ENST00000569430.5:c.1213C>T | ENSP00000454229.1:p.Arg405Trp | |
| ENST00000628023.2:c.*509C>T | ENSP00000486178.1:n.*509C>T | |
| ENST00000631023.2:c.922C>T | ENSP00000486616.1:p.Arg308Trp | |
| NM_000086.2:c.1213C>T , LRG_689t1:c.1213C>T | NP_000077.1:p.Arg405Trp | |
| NM_001042432.1:c.1213C>T , LRG_689t2:c.1213C>T | NP_001035897.1:p.Arg405Trp | |
| NM_001286104.1:c.1141C>T | NP_001273033.1:p.Arg381Trp | |
| NM_001286105.1:c.913C>T | NP_001273034.1:p.Arg305Trp | |
| NM_001286109.1:c.979C>T | NP_001273038.1:p.Arg327Trp | |
| NM_001286110.1:c.1051C>T | NP_001273039.1:p.Arg351Trp | |
| NM_001042432.2:c.1213C>T MANE Select | NP_001035897.1:p.Arg405Trp | |
| NM_001286104.2:c.1141C>T | NP_001273033.1:p.Arg381Trp | |
| NM_001286105.2:c.913C>T | NP_001273034.1:p.Arg305Trp | |
| NM_001286109.2:c.979C>T | NP_001273038.1:p.Arg327Trp | |
| NM_001286110.2:c.1051C>T | NP_001273039.1:p.Arg351Trp |