Linked Data
ClinVar Variation Id:
136780
dbSNP Id:
rs1142183
ExAC:
16:28493953 C / T
gnomAD v2:
16-28493953-C-T
gnomAD v3:
16-28482632-C-T
gnomAD v4:
16-28482632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482632C>T , CM000678.2:g.28482632C>T | GRCh38 |
| NC_000016.9:g.28493953C>T , CM000678.1:g.28493953C>T | GRCh37 |
| NC_000016.8:g.28401454C>T | NCBI36 |
| NG_008654.2:g.14671G>A , LRG_689:g.14671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.759G>A | ENSP00000329171.9:p.Val253= | |
| ENST00000355477.10:c.687G>A | ENSP00000347660.7:p.Val229= | |
| ENST00000357857.14:c.669G>A | ENSP00000350523.9:p.Val223= | |
| ENST00000359984.12:c.831G>A | ENSP00000353073.9:p.Val277= | |
| ENST00000360019.8:c.759G>A | ENSP00000353116.3:p.Val253= | |
| ENST00000395653.9:c.372G>A | ENSP00000379014.5:p.Val124= | |
| ENST00000561689.6:n.1116G>A | ||
| ENST00000564091.6:c.171G>A | ENSP00000454466.2:p.Val57= | |
| ENST00000565316.6:c.831G>A | ENSP00000456117.1:p.Val277= | |
| ENST00000565778.6:c.462G>A | ENSP00000458015.1:p.Val154= | |
| ENST00000566083.6:n.1289G>A | ||
| ENST00000566824.6:n.811G>A | ||
| ENST00000567963.6:c.669G>A | ENSP00000455387.2:p.Val223= | |
| ENST00000568076.6:n.958G>A | ||
| ENST00000568422.6:c.*68G>A | ENSP00000455549.2:n.*68G>A | |
| ENST00000568452.6:n.934G>A | ||
| ENST00000568472.6:n.707G>A | ||
| ENST00000568497.6:c.-139G>A | ENSP00000456414.2:n.-139G>A | |
| ENST00000569430.7:c.831G>A | ENSP00000454229.1:p.Val277= | |
| ENST00000628023.3:c.*127G>A | ENSP00000486178.1:n.*127G>A | |
| ENST00000635861.1:c.*355G>A | ENSP00000490034.1:n.*355G>A | |
| ENST00000635887.1:c.831G>A | ENSP00000490709.1:p.Val277= | |
| ENST00000635958.1:n.942G>A | ||
| ENST00000635973.1:c.582G>A | ENSP00000490363.1:p.Val194= | |
| ENST00000636017.1:c.*355G>A | ENSP00000490538.1:n.*355G>A | |
| ENST00000636078.1:n.873G>A | ||
| ENST00000636147.2:c.831G>A MANE Select | ENSP00000490105.1:p.Val277= | |
| ENST00000636172.1:c.*355G>A | ENSP00000490505.1:n.*355G>A | |
| ENST00000636228.1:c.525G>A | ENSP00000489627.1:p.Val175= | |
| ENST00000636351.1:n.551G>A | ||
| ENST00000636503.1:c.831G>A | ENSP00000489824.1:p.Val277= | |
| ENST00000636685.1:n.338G>A | ||
| ENST00000636766.1:c.831G>A | ENSP00000489841.1:p.Val277= | |
| ENST00000636839.1:n.983G>A | ||
| ENST00000636853.1:n.1746G>A | ||
| ENST00000636866.1:c.831G>A | ENSP00000490880.1:p.Val277= | |
| ENST00000636907.1:n.982G>A | ||
| ENST00000636977.1:n.1899G>A | ||
| ENST00000637050.1:n.918G>A | ||
| ENST00000637100.1:c.831G>A | ENSP00000490394.1:p.Val277= | |
| ENST00000637107.1:c.*355G>A | ENSP00000490248.1:n.*355G>A | |
| ENST00000637184.1:c.831G>A | ENSP00000489952.1:p.Val277= | |
| ENST00000637299.1:c.*640G>A | ENSP00000489823.1:n.*640G>A | |
| ENST00000637376.1:c.831G>A | ENSP00000490758.1:p.Val277= | |
| ENST00000637378.1:c.3G>A | ENSP00000490831.1:p.Val1= | |
| ENST00000637578.1:c.*355G>A | ENSP00000490206.1:n.*355G>A | |
| ENST00000637699.1:c.614G>A | ENSP00000490049.1:n.614G>A | |
| ENST00000637745.1:c.170G>A | ||
| ENST00000637871.1:c.*355G>A | ENSP00000490670.1:n.*355G>A | |
| ENST00000333496.13:c.759G>A | ENSP00000329171.9:p.Val253= | |
| ENST00000355477.9:c.*68G>A | ENSP00000347660.6:n.*68G>A | |
| ENST00000357806.11:c.534G>A | ENSP00000350457.7:p.Val178= | |
| ENST00000357857.13:c.669G>A | ENSP00000350523.9:p.Val223= | |
| ENST00000359984.11:c.525G>A | ENSP00000353073.8:p.Val175= | |
| ENST00000360019.6:c.831G>A | ENSP00000353116.2:p.Val277= | |
| ENST00000395653.8:c.531G>A | ENSP00000379014.4:p.Val177= | |
| ENST00000561689.5:n.672G>A | ||
| ENST00000563874.5:n.2185G>A | ||
| ENST00000564574.5:n.879G>A | ||
| ENST00000565047.1:n.425G>A | ||
| ENST00000565140.5:c.614G>A | ENSP00000455342.1:n.614G>A | |
| ENST00000565316.5:c.831G>A | ENSP00000456117.1:p.Val277= | |
| ENST00000565354.5:n.50G>A | ||
| ENST00000565778.5:c.462G>A | ENSP00000458015.1:p.Val154= | |
| ENST00000566057.5:c.445G>A | ENSP00000456693.1:n.445G>A | |
| ENST00000566083.5:n.1062G>A | ||
| ENST00000566824.5:n.880G>A | ||
| ENST00000567495.5:c.*68G>A | ENSP00000456013.1:n.*68G>A | |
| ENST00000567963.5:c.831G>A | ENSP00000455387.1:p.Val277= | |
| ENST00000568076.5:n.614G>A | ||
| ENST00000568224.4:c.597G>A | ENSP00000454253.1:p.Val199= | |
| ENST00000568422.5:c.*68G>A | ENSP00000455549.1:n.*68G>A | |
| ENST00000568452.5:n.831G>A | ||
| ENST00000568472.5:n.311G>A | ||
| ENST00000568497.5:c.*127G>A | ENSP00000456414.1:n.*127G>A | |
| ENST00000568558.5:c.372G>A | ENSP00000455603.1:p.Val124= | |
| ENST00000569030.5:c.501G>A | ENSP00000454680.1:p.Val167= | |
| ENST00000569430.5:c.831G>A | ENSP00000454229.1:p.Val277= | |
| ENST00000628023.2:c.*127G>A | ENSP00000486178.1:n.*127G>A | |
| ENST00000631023.2:c.831G>A | ENSP00000486616.1:p.Val277= | |
| NM_000086.2:c.831G>A , LRG_689t1:c.831G>A | NP_000077.1:p.Val277= | |
| NM_001042432.1:c.831G>A , LRG_689t2:c.831G>A | NP_001035897.1:p.Val277= | |
| NM_001286104.1:c.759G>A | NP_001273033.1:p.Val253= | |
| NM_001286105.1:c.531G>A | NP_001273034.1:p.Val177= | |
| NM_001286109.1:c.597G>A | NP_001273038.1:p.Val199= | |
| NM_001286110.1:c.669G>A | NP_001273039.1:p.Val223= | |
| NM_001042432.2:c.831G>A MANE Select | NP_001035897.1:p.Val277= | |
| NM_001286104.2:c.759G>A | NP_001273033.1:p.Val253= | |
| NM_001286105.2:c.531G>A | NP_001273034.1:p.Val177= | |
| NM_001286109.2:c.597G>A | NP_001273038.1:p.Val199= | |
| NM_001286110.2:c.669G>A | NP_001273039.1:p.Val223= |