Linked Data
ClinVar Variation Id:
370667
dbSNP Id:
rs386833742
gnomAD v2:
16-28493520-C-T
gnomAD v3:
16-28482199-C-T
gnomAD v4:
16-28482199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482199C>T , CM000678.2:g.28482199C>T | GRCh38 |
| NC_000016.9:g.28493520C>T , CM000678.1:g.28493520C>T | GRCh37 |
| NC_000016.8:g.28401021C>T | NCBI36 |
| NG_008654.2:g.15104G>A , LRG_689:g.15104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.891-1G>A | ENSP00000329171.9:n.891-1G>A | |
| ENST00000355477.10:c.819-1G>A | ENSP00000347660.7:n.819-1G>A | |
| ENST00000357857.14:c.801-1G>A | ENSP00000350523.9:n.801-1G>A | |
| ENST00000359984.12:c.963-1G>A | ENSP00000353073.9:n.963-1G>A | |
| ENST00000360019.8:c.891-1G>A | ENSP00000353116.3:n.891-1G>A | |
| ENST00000395653.9:c.504-1G>A | ENSP00000379014.5:n.504-1G>A | |
| ENST00000561689.6:n.1375G>A | ||
| ENST00000564091.6:c.303-1G>A | ENSP00000454466.2:n.303-1G>A | |
| ENST00000565316.6:c.912-1G>A | ENSP00000456117.1:n.912-1G>A | |
| ENST00000566824.6:n.1023-1G>A | ||
| ENST00000567963.6:c.801-1G>A | ENSP00000455387.2:n.801-1G>A | |
| ENST00000568076.6:n.1391G>A | ||
| ENST00000568422.6:c.*200-1G>A | ENSP00000455549.2:n.*200-1G>A | |
| ENST00000568452.6:n.1193G>A | ||
| ENST00000568497.6:c.-7-1G>A | ENSP00000456414.2:n.-7-1G>A | |
| ENST00000569430.7:c.963-1G>A | ENSP00000454229.1:n.963-1G>A | |
| ENST00000628023.3:c.*259-1G>A | ENSP00000486178.1:n.*259-1G>A | |
| ENST00000635861.1:c.*614G>A | ENSP00000490034.1:n.*614G>A | |
| ENST00000635887.1:c.963-1G>A | ENSP00000490709.1:n.963-1G>A | |
| ENST00000635958.1:n.1248-1G>A | ||
| ENST00000635973.1:c.714-1G>A | ENSP00000490363.1:n.714-1G>A | |
| ENST00000636017.1:c.*487-1G>A | ENSP00000490538.1:n.*487-1G>A | |
| ENST00000636078.1:n.1085-1G>A | ||
| ENST00000636147.2:c.963-1G>A MANE Select | ENSP00000490105.1:n.963-1G>A | |
| ENST00000636172.1:c.*487-1G>A | ENSP00000490505.1:n.*487-1G>A | |
| ENST00000636228.1:c.657-1G>A | ENSP00000489627.1:n.657-1G>A | |
| ENST00000636351.1:n.857-1G>A | ||
| ENST00000636503.1:c.963-1G>A | ENSP00000489824.1:n.963-1G>A | |
| ENST00000636685.1:n.644-1G>A | ||
| ENST00000636766.1:c.963-1G>A | ENSP00000489841.1:n.963-1G>A | |
| ENST00000636839.1:n.1336G>A | ||
| ENST00000636853.1:n.1878-1G>A | ||
| ENST00000636866.1:c.963-1G>A | ENSP00000490880.1:n.963-1G>A | |
| ENST00000636907.1:n.1114-1G>A | ||
| ENST00000636977.1:n.2332G>A | ||
| ENST00000637050.1:n.1351G>A | ||
| ENST00000637100.1:c.912-1G>A | ENSP00000490394.1:n.912-1G>A | |
| ENST00000637107.1:c.*487-1G>A | ENSP00000490248.1:n.*487-1G>A | |
| ENST00000637184.1:c.963-1G>A | ENSP00000489952.1:n.963-1G>A | |
| ENST00000637299.1:c.*772-1G>A | ENSP00000489823.1:n.*772-1G>A | |
| ENST00000637376.1:c.963-1G>A | ENSP00000490758.1:n.963-1G>A | |
| ENST00000637378.1:c.135-1G>A | ENSP00000490831.1:n.135-1G>A | |
| ENST00000637578.1:c.*487-1G>A | ENSP00000490206.1:n.*487-1G>A | |
| ENST00000637699.1:c.873G>A | ENSP00000490049.1:n.873G>A | |
| ENST00000637745.1:c.302-1G>A | ||
| ENST00000637871.1:c.*661-1G>A | ENSP00000490670.1:n.*661-1G>A | |
| ENST00000638036.1:c.125-1G>A | ||
| ENST00000333496.13:c.891-1G>A | ENSP00000329171.9:n.891-1G>A | |
| ENST00000355477.9:c.*200-1G>A | ENSP00000347660.6:n.*200-1G>A | |
| ENST00000357806.11:c.666-1G>A | ENSP00000350457.7:n.666-1G>A | |
| ENST00000357857.13:c.801-1G>A | ENSP00000350523.9:n.801-1G>A | |
| ENST00000359984.11:c.657-1G>A | ENSP00000353073.8:n.657-1G>A | |
| ENST00000360019.6:c.963-1G>A | ENSP00000353116.2:n.963-1G>A | |
| ENST00000395653.8:c.663-1G>A | ENSP00000379014.4:n.663-1G>A | |
| ENST00000561689.5:n.931G>A | ||
| ENST00000563874.5:n.2491-1G>A | ||
| ENST00000564091.5:c.52-1G>A | ||
| ENST00000564574.5:n.1138G>A | ||
| ENST00000565140.5:c.746-1G>A | ENSP00000455342.1:n.746-1G>A | |
| ENST00000565316.5:c.912-1G>A | ENSP00000456117.1:n.912-1G>A | |
| ENST00000565354.5:n.276-1G>A | ||
| ENST00000566057.5:c.577-1G>A | ENSP00000456693.1:n.577-1G>A | |
| ENST00000567963.5:c.906+278G>A | ENSP00000455387.1:n.906+278G>A | |
| ENST00000568076.5:n.873G>A | ||
| ENST00000568224.4:c.729-1G>A | ENSP00000454253.1:n.729-1G>A | |
| ENST00000568422.5:c.*200-1G>A | ENSP00000455549.1:n.*200-1G>A | |
| ENST00000568452.5:n.1090G>A | ||
| ENST00000568472.5:n.443-1G>A | ||
| ENST00000568558.5:c.504-1G>A | ENSP00000455603.1:n.504-1G>A | |
| ENST00000569030.5:c.633-1G>A | ENSP00000454680.1:n.633-1G>A | |
| ENST00000569430.5:c.963-1G>A | ENSP00000454229.1:n.963-1G>A | |
| ENST00000628023.2:c.*259-1G>A | ENSP00000486178.1:n.*259-1G>A | |
| ENST00000631023.2:c.906+278G>A | ENSP00000486616.1:n.906+278G>A | |
| NM_000086.2:c.963-1G>A , LRG_689t1:c.963-1G>A | NP_000077.1:n.963-1G>A | |
| NM_001042432.1:c.963-1G>A , LRG_689t2:c.963-1G>A | NP_001035897.1:n.963-1G>A | |
| NM_001286104.1:c.891-1G>A | NP_001273033.1:n.891-1G>A | |
| NM_001286105.1:c.663-1G>A | NP_001273034.1:n.663-1G>A | |
| NM_001286109.1:c.729-1G>A | NP_001273038.1:n.729-1G>A | |
| NM_001286110.1:c.801-1G>A | NP_001273039.1:n.801-1G>A | |
| NM_001042432.2:c.963-1G>A MANE Select | NP_001035897.1:n.963-1G>A | |
| NM_001286104.2:c.891-1G>A | NP_001273033.1:n.891-1G>A | |
| NM_001286105.2:c.663-1G>A | NP_001273034.1:n.663-1G>A | |
| NM_001286109.2:c.729-1G>A | NP_001273038.1:n.729-1G>A | |
| NM_001286110.2:c.801-1G>A | NP_001273039.1:n.801-1G>A |