Linked Data
ClinVar Variation Id:
370455
dbSNP Id:
rs771788391
ExAC:
16:28493796 A / T
gnomAD v2:
16-28493796-A-T
gnomAD v4:
16-28482475-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482475A>T , CM000678.2:g.28482475A>T | GRCh38 |
| NC_000016.9:g.28493796A>T , CM000678.1:g.28493796A>T | GRCh37 |
| NC_000016.8:g.28401297A>T | NCBI36 |
| NG_008654.2:g.14828T>A , LRG_689:g.14828T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.834+2T>A | ENSP00000329171.9:n.834+2T>A | |
| ENST00000355477.10:c.762+2T>A | ENSP00000347660.7:n.762+2T>A | |
| ENST00000357857.14:c.744+2T>A | ENSP00000350523.9:n.744+2T>A | |
| ENST00000359984.12:c.906+2T>A | ENSP00000353073.9:n.906+2T>A | |
| ENST00000360019.8:c.834+2T>A | ENSP00000353116.3:n.834+2T>A | |
| ENST00000395653.9:c.447+2T>A | ENSP00000379014.5:n.447+2T>A | |
| ENST00000561689.6:n.1191+2T>A | ||
| ENST00000564091.6:c.246+2T>A | ENSP00000454466.2:n.246+2T>A | |
| ENST00000565316.6:c.856-93T>A | ENSP00000456117.1:n.856-93T>A | |
| ENST00000566824.6:n.966+2T>A | ||
| ENST00000567963.6:c.744+2T>A | ENSP00000455387.2:n.744+2T>A | |
| ENST00000568076.6:n.1115T>A | ||
| ENST00000568422.6:c.*143+2T>A | ENSP00000455549.2:n.*143+2T>A | |
| ENST00000568452.6:n.1009+2T>A | ||
| ENST00000568472.6:n.864T>A | ||
| ENST00000568497.6:c.-64+2T>A | ENSP00000456414.2:n.-64+2T>A | |
| ENST00000569430.7:c.906+2T>A | ENSP00000454229.1:n.906+2T>A | |
| ENST00000628023.3:c.*202+2T>A | ENSP00000486178.1:n.*202+2T>A | |
| ENST00000635861.1:c.*430+2T>A | ENSP00000490034.1:n.*430+2T>A | |
| ENST00000635887.1:c.906+2T>A | ENSP00000490709.1:n.906+2T>A | |
| ENST00000635958.1:n.1099T>A | ||
| ENST00000635973.1:c.657+2T>A | ENSP00000490363.1:n.657+2T>A | |
| ENST00000636017.1:c.*430+2T>A | ENSP00000490538.1:n.*430+2T>A | |
| ENST00000636078.1:n.1028+2T>A | ||
| ENST00000636147.2:c.906+2T>A MANE Select | ENSP00000490105.1:n.906+2T>A | |
| ENST00000636172.1:c.*430+2T>A | ENSP00000490505.1:n.*430+2T>A | |
| ENST00000636228.1:c.600+2T>A | ENSP00000489627.1:n.600+2T>A | |
| ENST00000636351.1:n.708T>A | ||
| ENST00000636503.1:c.906+2T>A | ENSP00000489824.1:n.906+2T>A | |
| ENST00000636685.1:n.495T>A | ||
| ENST00000636766.1:c.906+2T>A | ENSP00000489841.1:n.906+2T>A | |
| ENST00000636839.1:n.1060T>A | ||
| ENST00000636853.1:n.1821+2T>A | ||
| ENST00000636866.1:c.906+2T>A | ENSP00000490880.1:n.906+2T>A | |
| ENST00000636907.1:n.1057+2T>A | ||
| ENST00000636977.1:n.2056T>A | ||
| ENST00000637050.1:n.1075T>A | ||
| ENST00000637100.1:c.856-93T>A | ENSP00000490394.1:n.856-93T>A | |
| ENST00000637107.1:c.*430+2T>A | ENSP00000490248.1:n.*430+2T>A | |
| ENST00000637184.1:c.906+2T>A | ENSP00000489952.1:n.906+2T>A | |
| ENST00000637299.1:c.*715+2T>A | ENSP00000489823.1:n.*715+2T>A | |
| ENST00000637376.1:c.906+2T>A | ENSP00000490758.1:n.906+2T>A | |
| ENST00000637378.1:c.78+2T>A | ENSP00000490831.1:n.78+2T>A | |
| ENST00000637578.1:c.*430+2T>A | ENSP00000490206.1:n.*430+2T>A | |
| ENST00000637699.1:c.689+2T>A | ENSP00000490049.1:n.689+2T>A | |
| ENST00000637745.1:c.245+2T>A | ||
| ENST00000637871.1:c.*512T>A | ENSP00000490670.1:n.*512T>A | |
| ENST00000638036.1:c.68+2T>A | ||
| ENST00000333496.13:c.834+2T>A | ENSP00000329171.9:n.834+2T>A | |
| ENST00000355477.9:c.*143+2T>A | ENSP00000347660.6:n.*143+2T>A | |
| ENST00000357806.11:c.609+2T>A | ENSP00000350457.7:n.609+2T>A | |
| ENST00000357857.13:c.744+2T>A | ENSP00000350523.9:n.744+2T>A | |
| ENST00000359984.11:c.600+2T>A | ENSP00000353073.8:n.600+2T>A | |
| ENST00000360019.6:c.906+2T>A | ENSP00000353116.2:n.906+2T>A | |
| ENST00000395653.8:c.606+2T>A | ENSP00000379014.4:n.606+2T>A | |
| ENST00000561689.5:n.747+2T>A | ||
| ENST00000563874.5:n.2342T>A | ||
| ENST00000564574.5:n.954+2T>A | ||
| ENST00000565140.5:c.689+2T>A | ENSP00000455342.1:n.689+2T>A | |
| ENST00000565316.5:c.856-93T>A | ENSP00000456117.1:n.856-93T>A | |
| ENST00000565354.5:n.127T>A | ||
| ENST00000566057.5:c.520+2T>A | ENSP00000456693.1:n.520+2T>A | |
| ENST00000567963.5:c.906+2T>A | ENSP00000455387.1:n.906+2T>A | |
| ENST00000568076.5:n.689+2T>A | ||
| ENST00000568224.4:c.672+2T>A | ENSP00000454253.1:n.672+2T>A | |
| ENST00000568422.5:c.*143+2T>A | ENSP00000455549.1:n.*143+2T>A | |
| ENST00000568452.5:n.906+2T>A | ||
| ENST00000568472.5:n.386+2T>A | ||
| ENST00000568497.5:c.*202+2T>A | ENSP00000456414.1:n.*202+2T>A | |
| ENST00000568558.5:c.447+2T>A | ENSP00000455603.1:n.447+2T>A | |
| ENST00000569030.5:c.576+2T>A | ENSP00000454680.1:n.576+2T>A | |
| ENST00000569430.5:c.906+2T>A | ENSP00000454229.1:n.906+2T>A | |
| ENST00000628023.2:c.*202+2T>A | ENSP00000486178.1:n.*202+2T>A | |
| ENST00000631023.2:c.906+2T>A | ENSP00000486616.1:n.906+2T>A | |
| NM_000086.2:c.906+2T>A , LRG_689t1:c.906+2T>A | NP_000077.1:n.906+2T>A | |
| NM_001042432.1:c.906+2T>A , LRG_689t2:c.906+2T>A | NP_001035897.1:n.906+2T>A | |
| NM_001286104.1:c.834+2T>A | NP_001273033.1:n.834+2T>A | |
| NM_001286105.1:c.606+2T>A | NP_001273034.1:n.606+2T>A | |
| NM_001286109.1:c.672+2T>A | NP_001273038.1:n.672+2T>A | |
| NM_001286110.1:c.744+2T>A | NP_001273039.1:n.744+2T>A | |
| NM_001042432.2:c.906+2T>A MANE Select | NP_001035897.1:n.906+2T>A | |
| NM_001286104.2:c.834+2T>A | NP_001273033.1:n.834+2T>A | |
| NM_001286105.2:c.606+2T>A | NP_001273034.1:n.606+2T>A | |
| NM_001286109.2:c.672+2T>A | NP_001273038.1:n.672+2T>A | |
| NM_001286110.2:c.744+2T>A | NP_001273039.1:n.744+2T>A |