Linked Data
ClinVar Variation Id:
318717
dbSNP Id:
rs773692029
ExAC:
16:28489212 G / T
gnomAD v2:
16-28489212-G-T
gnomAD v4:
16-28477891-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477891G>T , CM000678.2:g.28477891G>T | GRCh38 |
| NC_000016.9:g.28489212G>T , CM000678.1:g.28489212G>T | GRCh37 |
| NC_000016.8:g.28396713G>T | NCBI36 |
| NG_008654.2:g.19412C>A , LRG_689:g.19412C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.985-14C>A | ENSP00000329171.9:n.985-14C>A | |
| ENST00000355477.10:c.913-14C>A | ENSP00000347660.7:n.913-14C>A | |
| ENST00000357857.14:c.895-14C>A | ENSP00000350523.9:n.895-14C>A | |
| ENST00000359984.12:c.1057-14C>A | ENSP00000353073.9:n.1057-14C>A | |
| ENST00000360019.8:c.985-14C>A | ENSP00000353116.3:n.985-14C>A | |
| ENST00000395653.9:c.598-14C>A | ENSP00000379014.5:n.598-14C>A | |
| ENST00000561689.6:n.1470-14C>A | ||
| ENST00000564091.6:c.397-14C>A | ENSP00000454466.2:n.397-14C>A | |
| ENST00000565316.6:c.1006-14C>A | ENSP00000456117.1:n.1006-14C>A | |
| ENST00000566824.6:n.1239-14C>A | ||
| ENST00000567963.6:c.895-14C>A | ENSP00000455387.2:n.895-14C>A | |
| ENST00000568076.6:n.1486-14C>A | ||
| ENST00000568422.6:c.*294-14C>A | ENSP00000455549.2:n.*294-14C>A | |
| ENST00000568452.6:n.1288-14C>A | ||
| ENST00000569430.7:c.1057-14C>A | ENSP00000454229.1:n.1057-14C>A | |
| ENST00000628023.3:c.*353-14C>A | ENSP00000486178.1:n.*353-14C>A | |
| ENST00000635861.1:c.*709-14C>A | ENSP00000490034.1:n.*709-14C>A | |
| ENST00000635887.1:c.1057-14C>A | ENSP00000490709.1:n.1057-14C>A | |
| ENST00000635958.1:n.1464-14C>A | ||
| ENST00000636017.1:c.*581-14C>A | ENSP00000490538.1:n.*581-14C>A | |
| ENST00000636078.1:n.1179-14C>A | ||
| ENST00000636147.2:c.1057-14C>A MANE Select | ENSP00000490105.1:n.1057-14C>A | |
| ENST00000636172.1:c.*581-14C>A | ENSP00000490505.1:n.*581-14C>A | |
| ENST00000636228.1:c.751-14C>A | ENSP00000489627.1:n.751-14C>A | |
| ENST00000636351.1:n.951-14C>A | ||
| ENST00000636503.1:c.*87-14C>A | ENSP00000489824.1:n.*87-14C>A | |
| ENST00000636685.1:n.738-14C>A | ||
| ENST00000636766.1:c.1057-14C>A | ENSP00000489841.1:n.1057-14C>A | |
| ENST00000636839.1:n.1553-14C>A | ||
| ENST00000636853.1:n.2070-14C>A | ||
| ENST00000636866.1:c.1057-14C>A | ENSP00000490880.1:n.1057-14C>A | |
| ENST00000636907.1:n.1208-14C>A | ||
| ENST00000636977.1:n.2549-14C>A | ||
| ENST00000637050.1:n.1446-14C>A | ||
| ENST00000637100.1:c.1006-3629C>A | ENSP00000490394.1:n.1006-3629C>A | |
| ENST00000637107.1:c.*581-14C>A | ENSP00000490248.1:n.*581-14C>A | |
| ENST00000637184.1:c.*87-14C>A | ENSP00000489952.1:n.*87-14C>A | |
| ENST00000637299.1:c.*866-14C>A | ENSP00000489823.1:n.*866-14C>A | |
| ENST00000637376.1:c.*87-14C>A | ENSP00000490758.1:n.*87-14C>A | |
| ENST00000637378.1:c.228+4214C>A | ENSP00000490831.1:n.228+4214C>A | |
| ENST00000637578.1:c.*581-14C>A | ENSP00000490206.1:n.*581-14C>A | |
| ENST00000637699.1:c.968-14C>A | ENSP00000490049.1:n.968-14C>A | |
| ENST00000637745.1:c.494-14C>A | ||
| ENST00000637871.1:c.*755-14C>A | ENSP00000490670.1:n.*755-14C>A | |
| ENST00000638036.1:c.219-14C>A | ||
| ENST00000333496.13:c.985-14C>A | ENSP00000329171.9:n.985-14C>A | |
| ENST00000355477.9:c.*294-14C>A | ENSP00000347660.6:n.*294-14C>A | |
| ENST00000357806.11:c.760-14C>A | ENSP00000350457.7:n.760-14C>A | |
| ENST00000357857.13:c.895-14C>A | ENSP00000350523.9:n.895-14C>A | |
| ENST00000359984.11:c.751-14C>A | ENSP00000353073.8:n.751-14C>A | |
| ENST00000360019.6:c.1057-14C>A | ENSP00000353116.2:n.1057-14C>A | |
| ENST00000395653.8:c.757-14C>A | ENSP00000379014.4:n.757-14C>A | |
| ENST00000561689.5:n.1026-14C>A | ||
| ENST00000563874.5:n.2585-14C>A | ||
| ENST00000564091.5:c.146-14C>A | ||
| ENST00000565140.5:c.965-14C>A | ENSP00000455342.1:n.965-14C>A | |
| ENST00000565316.5:c.1006-14C>A | ENSP00000456117.1:n.1006-14C>A | |
| ENST00000565354.5:n.370-14C>A | ||
| ENST00000566057.5:c.671-14C>A | ENSP00000456693.1:n.671-14C>A | |
| ENST00000567963.5:c.907-256C>A | ENSP00000455387.1:n.907-256C>A | |
| ENST00000568076.5:n.968-14C>A | ||
| ENST00000568224.4:c.823-14C>A | ENSP00000454253.1:n.823-14C>A | |
| ENST00000568422.5:c.*294-14C>A | ENSP00000455549.1:n.*294-14C>A | |
| ENST00000568452.5:n.1185-14C>A | ||
| ENST00000569030.5:c.849-14C>A | ENSP00000454680.1:n.849-14C>A | |
| ENST00000569430.5:c.1057-14C>A | ENSP00000454229.1:n.1057-14C>A | |
| ENST00000628023.2:c.*353-14C>A | ENSP00000486178.1:n.*353-14C>A | |
| ENST00000631023.2:c.907-256C>A | ENSP00000486616.1:n.907-256C>A | |
| NM_000086.2:c.1057-14C>A , LRG_689t1:c.1057-14C>A | NP_000077.1:n.1057-14C>A | |
| NM_001042432.1:c.1057-14C>A , LRG_689t2:c.1057-14C>A | NP_001035897.1:n.1057-14C>A | |
| NM_001286104.1:c.985-14C>A | NP_001273033.1:n.985-14C>A | |
| NM_001286105.1:c.757-14C>A | NP_001273034.1:n.757-14C>A | |
| NM_001286109.1:c.823-14C>A | NP_001273038.1:n.823-14C>A | |
| NM_001286110.1:c.895-14C>A | NP_001273039.1:n.895-14C>A | |
| NM_001042432.2:c.1057-14C>A MANE Select | NP_001035897.1:n.1057-14C>A | |
| NM_001286104.2:c.985-14C>A | NP_001273033.1:n.985-14C>A | |
| NM_001286105.2:c.757-14C>A | NP_001273034.1:n.757-14C>A | |
| NM_001286109.2:c.823-14C>A | NP_001273038.1:n.823-14C>A | |
| NM_001286110.2:c.895-14C>A | NP_001273039.1:n.895-14C>A |