Linked Data
ClinVar Variation Id:
56289
dbSNP Id:
rs386833738
ExAC:
16:28495324 T / G
gnomAD v2:
16-28495324-T-G
gnomAD v3:
16-28484003-T-G
gnomAD v4:
16-28484003-T-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484003T>G , CM000678.2:g.28484003T>G | GRCh38 |
| NC_000016.9:g.28495324T>G , CM000678.1:g.28495324T>G | GRCh37 |
| NC_000016.8:g.28402825T>G | NCBI36 |
| NG_008654.2:g.13300A>C , LRG_689:g.13300A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.718+3A>C | ENSP00000329171.9:n.718+3A>C | |
| ENST00000355477.10:c.646+3A>C | ENSP00000347660.7:n.646+3A>C | |
| ENST00000357857.14:c.628+3A>C | ENSP00000350523.9:n.628+3A>C | |
| ENST00000359984.12:c.790+3A>C | ENSP00000353073.9:n.790+3A>C | |
| ENST00000360019.8:c.718+3A>C | ENSP00000353116.3:n.718+3A>C | |
| ENST00000395653.9:c.331+3A>C | ENSP00000379014.5:n.331+3A>C | |
| ENST00000561689.6:n.1075+3A>C | ||
| ENST00000564091.6:c.130+3A>C | ENSP00000454466.2:n.130+3A>C | |
| ENST00000565316.6:c.790+3A>C | ENSP00000456117.1:n.790+3A>C | |
| ENST00000565778.6:c.421+3A>C | ENSP00000458015.1:n.421+3A>C | |
| ENST00000566083.6:n.1248+3A>C | ||
| ENST00000566824.6:n.770+3A>C | ||
| ENST00000567963.6:c.628+3A>C | ENSP00000455387.2:n.628+3A>C | |
| ENST00000568076.6:n.917+3A>C | ||
| ENST00000568422.6:c.*27+3A>C | ENSP00000455549.2:n.*27+3A>C | |
| ENST00000568452.6:n.893+3A>C | ||
| ENST00000568472.6:n.666+3A>C | ||
| ENST00000568497.6:c.-180+3A>C | ENSP00000456414.2:n.-180+3A>C | |
| ENST00000568558.6:c.493+3A>C | ENSP00000455603.2:n.493+3A>C | |
| ENST00000569430.7:c.790+3A>C | ENSP00000454229.1:n.790+3A>C | |
| ENST00000628023.3:c.*86+3A>C | ENSP00000486178.1:n.*86+3A>C | |
| ENST00000635861.1:c.*314+3A>C | ENSP00000490034.1:n.*314+3A>C | |
| ENST00000635887.1:c.790+3A>C | ENSP00000490709.1:n.790+3A>C | |
| ENST00000635958.1:n.901+3A>C | ||
| ENST00000635973.1:c.541+3A>C | ENSP00000490363.1:n.541+3A>C | |
| ENST00000636017.1:c.*314+3A>C | ENSP00000490538.1:n.*314+3A>C | |
| ENST00000636078.1:n.832+3A>C | ||
| ENST00000636147.2:c.790+3A>C MANE Select | ENSP00000490105.1:n.790+3A>C | |
| ENST00000636172.1:c.*314+3A>C | ENSP00000490505.1:n.*314+3A>C | |
| ENST00000636228.1:c.484+3A>C | ENSP00000489627.1:n.484+3A>C | |
| ENST00000636351.1:n.510+3A>C | ||
| ENST00000636503.1:c.790+3A>C | ENSP00000489824.1:n.790+3A>C | |
| ENST00000636685.1:n.297+3A>C | ||
| ENST00000636766.1:c.790+3A>C | ENSP00000489841.1:n.790+3A>C | |
| ENST00000636839.1:n.942+3A>C | ||
| ENST00000636853.1:n.1705+3A>C | ||
| ENST00000636866.1:c.790+3A>C | ENSP00000490880.1:n.790+3A>C | |
| ENST00000636907.1:n.941+3A>C | ||
| ENST00000636977.1:n.1858+3A>C | ||
| ENST00000637050.1:n.877+3A>C | ||
| ENST00000637100.1:c.790+3A>C | ENSP00000490394.1:n.790+3A>C | |
| ENST00000637107.1:c.*314+3A>C | ENSP00000490248.1:n.*314+3A>C | |
| ENST00000637184.1:c.790+3A>C | ENSP00000489952.1:n.790+3A>C | |
| ENST00000637299.1:c.*599+3A>C | ENSP00000489823.1:n.*599+3A>C | |
| ENST00000637376.1:c.790+3A>C | ENSP00000490758.1:n.790+3A>C | |
| ENST00000637578.1:c.*314+3A>C | ENSP00000490206.1:n.*314+3A>C | |
| ENST00000637699.1:c.573+3A>C | ENSP00000490049.1:n.573+3A>C | |
| ENST00000637745.1:c.129+3A>C | ||
| ENST00000637871.1:c.*314+3A>C | ENSP00000490670.1:n.*314+3A>C | |
| ENST00000333496.13:c.718+3A>C | ENSP00000329171.9:n.718+3A>C | |
| ENST00000355477.9:c.*27+3A>C | ENSP00000347660.6:n.*27+3A>C | |
| ENST00000357806.11:c.493+3A>C | ENSP00000350457.7:n.493+3A>C | |
| ENST00000357857.13:c.628+3A>C | ENSP00000350523.9:n.628+3A>C | |
| ENST00000359984.11:c.484+3A>C | ENSP00000353073.8:n.484+3A>C | |
| ENST00000360019.6:c.790+3A>C | ENSP00000353116.2:n.790+3A>C | |
| ENST00000395653.8:c.490+3A>C | ENSP00000379014.4:n.490+3A>C | |
| ENST00000561689.5:n.631+3A>C | ||
| ENST00000563874.5:n.2144+3A>C | ||
| ENST00000564574.5:n.838+3A>C | ||
| ENST00000565047.1:n.384+3A>C | ||
| ENST00000565140.5:c.573+3A>C | ENSP00000455342.1:n.573+3A>C | |
| ENST00000565316.5:c.790+3A>C | ENSP00000456117.1:n.790+3A>C | |
| ENST00000565354.5:n.9+3A>C | ||
| ENST00000565778.5:c.421+3A>C | ENSP00000458015.1:n.421+3A>C | |
| ENST00000566057.5:c.404+3A>C | ENSP00000456693.1:n.404+3A>C | |
| ENST00000566083.5:n.1021+3A>C | ||
| ENST00000566824.5:n.839+3A>C | ||
| ENST00000567495.5:c.*27+3A>C | ENSP00000456013.1:n.*27+3A>C | |
| ENST00000567963.5:c.790+3A>C | ENSP00000455387.1:n.790+3A>C | |
| ENST00000568076.5:n.573+3A>C | ||
| ENST00000568224.4:c.556+3A>C | ENSP00000454253.1:n.556+3A>C | |
| ENST00000568422.5:c.*27+3A>C | ENSP00000455549.1:n.*27+3A>C | |
| ENST00000568452.5:n.790+3A>C | ||
| ENST00000568472.5:n.270+3A>C | ||
| ENST00000568497.5:c.*86+3A>C | ENSP00000456414.1:n.*86+3A>C | |
| ENST00000568558.5:c.331+3A>C | ENSP00000455603.1:n.331+3A>C | |
| ENST00000569030.5:c.461-1331A>C | ENSP00000454680.1:n.461-1331A>C | |
| ENST00000569430.5:c.790+3A>C | ENSP00000454229.1:n.790+3A>C | |
| ENST00000628023.2:c.*86+3A>C | ENSP00000486178.1:n.*86+3A>C | |
| ENST00000631023.2:c.790+3A>C | ENSP00000486616.1:n.790+3A>C | |
| NM_000086.2:c.790+3A>C , LRG_689t1:c.790+3A>C | NP_000077.1:n.790+3A>C | |
| NM_001042432.1:c.790+3A>C , LRG_689t2:c.790+3A>C | NP_001035897.1:n.790+3A>C | |
| NM_001286104.1:c.718+3A>C | NP_001273033.1:n.718+3A>C | |
| NM_001286105.1:c.490+3A>C | NP_001273034.1:n.490+3A>C | |
| NM_001286109.1:c.556+3A>C | NP_001273038.1:n.556+3A>C | |
| NM_001286110.1:c.628+3A>C | NP_001273039.1:n.628+3A>C | |
| NM_001042432.2:c.790+3A>C MANE Select | NP_001035897.1:n.790+3A>C | |
| NM_001286104.2:c.718+3A>C | NP_001273033.1:n.718+3A>C | |
| NM_001286105.2:c.490+3A>C | NP_001273034.1:n.490+3A>C | |
| NM_001286109.2:c.556+3A>C | NP_001273038.1:n.556+3A>C | |
| NM_001286110.2:c.628+3A>C | NP_001273039.1:n.628+3A>C |