Linked Data
ClinVar Variation Id:
205092
dbSNP Id:
rs796052335
gnomAD v3:
16-28482340-G-A
gnomAD v4:
16-28482340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482340G>A , CM000678.2:g.28482340G>A | GRCh38 |
| NC_000016.9:g.28493661G>A , CM000678.1:g.28493661G>A | GRCh37 |
| NC_000016.8:g.28401162G>A | NCBI36 |
| NG_008654.2:g.14963C>T , LRG_689:g.14963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.877C>T | ENSP00000329171.9:p.Gln293Ter | |
| ENST00000355477.10:c.805C>T | ENSP00000347660.7:p.Gln269Ter | |
| ENST00000357857.14:c.787C>T | ENSP00000350523.9:p.Gln263Ter | |
| ENST00000359984.12:c.949C>T | ENSP00000353073.9:p.Gln317Ter | |
| ENST00000360019.8:c.877C>T | ENSP00000353116.3:p.Gln293Ter | |
| ENST00000395653.9:c.490C>T | ENSP00000379014.5:p.Gln164Ter | |
| ENST00000561689.6:n.1234C>T | ||
| ENST00000564091.6:c.289C>T | ENSP00000454466.2:p.Gln97Ter | |
| ENST00000565316.6:c.898C>T | ENSP00000456117.1:p.Gln300Ter | |
| ENST00000566824.6:n.1009C>T | ||
| ENST00000567963.6:c.787C>T | ENSP00000455387.2:p.Gln263Ter | |
| ENST00000568076.6:n.1250C>T | ||
| ENST00000568422.6:c.*186C>T | ENSP00000455549.2:n.*186C>T | |
| ENST00000568452.6:n.1052C>T | ||
| ENST00000568472.6:n.999C>T | ||
| ENST00000568497.6:c.-21C>T | ENSP00000456414.2:n.-21C>T | |
| ENST00000569430.7:c.949C>T | ENSP00000454229.1:p.Gln317Ter | |
| ENST00000628023.3:c.*245C>T | ENSP00000486178.1:n.*245C>T | |
| ENST00000635861.1:c.*473C>T | ENSP00000490034.1:n.*473C>T | |
| ENST00000635887.1:c.949C>T | ENSP00000490709.1:p.Gln317Ter | |
| ENST00000635958.1:n.1234C>T | ||
| ENST00000635973.1:c.700C>T | ENSP00000490363.1:p.Gln234Ter | |
| ENST00000636017.1:c.*473C>T | ENSP00000490538.1:n.*473C>T | |
| ENST00000636078.1:n.1071C>T | ||
| ENST00000636147.2:c.949C>T MANE Select | ENSP00000490105.1:p.Gln317Ter | |
| ENST00000636172.1:c.*473C>T | ENSP00000490505.1:n.*473C>T | |
| ENST00000636228.1:c.643C>T | ENSP00000489627.1:p.Gln215Ter | |
| ENST00000636351.1:n.843C>T | ||
| ENST00000636503.1:c.949C>T | ENSP00000489824.1:p.Gln317Ter | |
| ENST00000636685.1:n.630C>T | ||
| ENST00000636766.1:c.949C>T | ENSP00000489841.1:p.Gln317Ter | |
| ENST00000636839.1:n.1195C>T | ||
| ENST00000636853.1:n.1864C>T | ||
| ENST00000636866.1:c.949C>T | ENSP00000490880.1:p.Gln317Ter | |
| ENST00000636907.1:n.1100C>T | ||
| ENST00000636977.1:n.2191C>T | ||
| ENST00000637050.1:n.1210C>T | ||
| ENST00000637100.1:c.898C>T | ENSP00000490394.1:p.Gln300Ter | |
| ENST00000637107.1:c.*473C>T | ENSP00000490248.1:n.*473C>T | |
| ENST00000637184.1:c.949C>T | ENSP00000489952.1:p.Gln317Ter | |
| ENST00000637299.1:c.*758C>T | ENSP00000489823.1:n.*758C>T | |
| ENST00000637376.1:c.949C>T | ENSP00000490758.1:p.Gln317Ter | |
| ENST00000637378.1:c.121C>T | ENSP00000490831.1:p.Gln41Ter | |
| ENST00000637578.1:c.*473C>T | ENSP00000490206.1:n.*473C>T | |
| ENST00000637699.1:c.732C>T | ENSP00000490049.1:n.732C>T | |
| ENST00000637745.1:c.288C>T | ||
| ENST00000637871.1:c.*647C>T | ENSP00000490670.1:n.*647C>T | |
| ENST00000638036.1:c.111C>T | ||
| ENST00000333496.13:c.877C>T | ENSP00000329171.9:p.Gln293Ter | |
| ENST00000355477.9:c.*186C>T | ENSP00000347660.6:n.*186C>T | |
| ENST00000357806.11:c.652C>T | ENSP00000350457.7:p.Gln218Ter | |
| ENST00000357857.13:c.787C>T | ENSP00000350523.9:p.Gln263Ter | |
| ENST00000359984.11:c.643C>T | ENSP00000353073.8:p.Gln215Ter | |
| ENST00000360019.6:c.949C>T | ENSP00000353116.2:p.Gln317Ter | |
| ENST00000395653.8:c.649C>T | ENSP00000379014.4:p.Gln217Ter | |
| ENST00000561689.5:n.790C>T | ||
| ENST00000563874.5:n.2477C>T | ||
| ENST00000564091.5:c.38C>T | ||
| ENST00000564574.5:n.997C>T | ||
| ENST00000565140.5:c.732C>T | ENSP00000455342.1:n.732C>T | |
| ENST00000565316.5:c.898C>T | ENSP00000456117.1:p.Gln300Ter | |
| ENST00000565354.5:n.262C>T | ||
| ENST00000566057.5:c.563C>T | ENSP00000456693.1:n.563C>T | |
| ENST00000567963.5:c.906+137C>T | ENSP00000455387.1:n.906+137C>T | |
| ENST00000568076.5:n.732C>T | ||
| ENST00000568224.4:c.715C>T | ENSP00000454253.1:p.Gln239Ter | |
| ENST00000568422.5:c.*186C>T | ENSP00000455549.1:n.*186C>T | |
| ENST00000568452.5:n.949C>T | ||
| ENST00000568472.5:n.429C>T | ||
| ENST00000568558.5:c.490C>T | ENSP00000455603.1:p.Gln164Ter | |
| ENST00000569030.5:c.619C>T | ENSP00000454680.1:p.Gln207Ter | |
| ENST00000569430.5:c.949C>T | ENSP00000454229.1:p.Gln317Ter | |
| ENST00000628023.2:c.*245C>T | ENSP00000486178.1:n.*245C>T | |
| ENST00000631023.2:c.906+137C>T | ENSP00000486616.1:n.906+137C>T | |
| NM_000086.2:c.949C>T , LRG_689t1:c.949C>T | NP_000077.1:p.Gln317Ter | |
| NM_001042432.1:c.949C>T , LRG_689t2:c.949C>T | NP_001035897.1:p.Gln317Ter | |
| NM_001286104.1:c.877C>T | NP_001273033.1:p.Gln293Ter | |
| NM_001286105.1:c.649C>T | NP_001273034.1:p.Gln217Ter | |
| NM_001286109.1:c.715C>T | NP_001273038.1:p.Gln239Ter | |
| NM_001286110.1:c.787C>T | NP_001273039.1:p.Gln263Ter | |
| NM_001042432.2:c.949C>T MANE Select | NP_001035897.1:p.Gln317Ter | |
| NM_001286104.2:c.877C>T | NP_001273033.1:p.Gln293Ter | |
| NM_001286105.2:c.649C>T | NP_001273034.1:p.Gln217Ter | |
| NM_001286109.2:c.715C>T | NP_001273038.1:p.Gln239Ter | |
| NM_001286110.2:c.787C>T | NP_001273039.1:p.Gln263Ter |