Linked Data
ClinVar Variation Id:
318720
dbSNP Id:
rs756848924
ExAC:
16:28493942 C / T
gnomAD v2:
16-28493942-C-T
gnomAD v3:
16-28482621-C-T
gnomAD v4:
16-28482621-C-T
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482621C>T , CM000678.2:g.28482621C>T | GRCh38 |
| NC_000016.9:g.28493942C>T , CM000678.1:g.28493942C>T | GRCh37 |
| NC_000016.8:g.28401443C>T | NCBI36 |
| NG_008654.2:g.14682G>A , LRG_689:g.14682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.765+5G>A | ENSP00000329171.9:n.765+5G>A | |
| ENST00000355477.10:c.693+5G>A | ENSP00000347660.7:n.693+5G>A | |
| ENST00000357857.14:c.675+5G>A | ENSP00000350523.9:n.675+5G>A | |
| ENST00000359984.12:c.837+5G>A | ENSP00000353073.9:n.837+5G>A | |
| ENST00000360019.8:c.765+5G>A | ENSP00000353116.3:n.765+5G>A | |
| ENST00000395653.9:c.378+5G>A | ENSP00000379014.5:n.378+5G>A | |
| ENST00000561689.6:n.1122+5G>A | ||
| ENST00000564091.6:c.177+5G>A | ENSP00000454466.2:n.177+5G>A | |
| ENST00000565316.6:c.842G>A | ENSP00000456117.1:p.Arg281Gln | |
| ENST00000565778.6:c.468+5G>A | ENSP00000458015.1:n.468+5G>A | |
| ENST00000566083.6:n.1300G>A | ||
| ENST00000566824.6:n.822G>A | ||
| ENST00000567963.6:c.675+5G>A | ENSP00000455387.2:n.675+5G>A | |
| ENST00000568076.6:n.969G>A | ||
| ENST00000568422.6:c.*74+5G>A | ENSP00000455549.2:n.*74+5G>A | |
| ENST00000568452.6:n.940+5G>A | ||
| ENST00000568472.6:n.718G>A | ||
| ENST00000568497.6:c.-133+5G>A | ENSP00000456414.2:n.-133+5G>A | |
| ENST00000569430.7:c.837+5G>A | ENSP00000454229.1:n.837+5G>A | |
| ENST00000628023.3:c.*133+5G>A | ENSP00000486178.1:n.*133+5G>A | |
| ENST00000635861.1:c.*361+5G>A | ENSP00000490034.1:n.*361+5G>A | |
| ENST00000635887.1:c.837+5G>A | ENSP00000490709.1:n.837+5G>A | |
| ENST00000635958.1:n.953G>A | ||
| ENST00000635973.1:c.588+5G>A | ENSP00000490363.1:n.588+5G>A | |
| ENST00000636017.1:c.*361+5G>A | ENSP00000490538.1:n.*361+5G>A | |
| ENST00000636078.1:n.884G>A | ||
| ENST00000636147.2:c.837+5G>A MANE Select | ENSP00000490105.1:n.837+5G>A | |
| ENST00000636172.1:c.*361+5G>A | ENSP00000490505.1:n.*361+5G>A | |
| ENST00000636228.1:c.531+5G>A | ENSP00000489627.1:n.531+5G>A | |
| ENST00000636351.1:n.562G>A | ||
| ENST00000636503.1:c.837+5G>A | ENSP00000489824.1:n.837+5G>A | |
| ENST00000636685.1:n.349G>A | ||
| ENST00000636766.1:c.837+5G>A | ENSP00000489841.1:n.837+5G>A | |
| ENST00000636839.1:n.989+5G>A | ||
| ENST00000636853.1:n.1752+5G>A | ||
| ENST00000636866.1:c.837+5G>A | ENSP00000490880.1:n.837+5G>A | |
| ENST00000636907.1:n.988+5G>A | ||
| ENST00000636977.1:n.1910G>A | ||
| ENST00000637050.1:n.929G>A | ||
| ENST00000637100.1:c.842G>A | ENSP00000490394.1:p.Arg281Gln | |
| ENST00000637107.1:c.*361+5G>A | ENSP00000490248.1:n.*361+5G>A | |
| ENST00000637184.1:c.837+5G>A | ENSP00000489952.1:n.837+5G>A | |
| ENST00000637299.1:c.*646+5G>A | ENSP00000489823.1:n.*646+5G>A | |
| ENST00000637376.1:c.837+5G>A | ENSP00000490758.1:n.837+5G>A | |
| ENST00000637378.1:c.9+5G>A | ENSP00000490831.1:n.9+5G>A | |
| ENST00000637578.1:c.*361+5G>A | ENSP00000490206.1:n.*361+5G>A | |
| ENST00000637699.1:c.620+5G>A | ENSP00000490049.1:n.620+5G>A | |
| ENST00000637745.1:c.176+5G>A | ||
| ENST00000637871.1:c.*366G>A | ENSP00000490670.1:n.*366G>A | |
| ENST00000333496.13:c.765+5G>A | ENSP00000329171.9:n.765+5G>A | |
| ENST00000355477.9:c.*74+5G>A | ENSP00000347660.6:n.*74+5G>A | |
| ENST00000357806.11:c.540+5G>A | ENSP00000350457.7:n.540+5G>A | |
| ENST00000357857.13:c.675+5G>A | ENSP00000350523.9:n.675+5G>A | |
| ENST00000359984.11:c.531+5G>A | ENSP00000353073.8:n.531+5G>A | |
| ENST00000360019.6:c.837+5G>A | ENSP00000353116.2:n.837+5G>A | |
| ENST00000395653.8:c.537+5G>A | ENSP00000379014.4:n.537+5G>A | |
| ENST00000561689.5:n.678+5G>A | ||
| ENST00000563874.5:n.2196G>A | ||
| ENST00000564574.5:n.885+5G>A | ||
| ENST00000565047.1:n.431+5G>A | ||
| ENST00000565140.5:c.620+5G>A | ENSP00000455342.1:n.620+5G>A | |
| ENST00000565316.5:c.842G>A | ENSP00000456117.1:p.Arg281Gln | |
| ENST00000565354.5:n.56+5G>A | ||
| ENST00000565778.5:c.468+5G>A | ENSP00000458015.1:n.468+5G>A | |
| ENST00000566057.5:c.451+5G>A | ENSP00000456693.1:n.451+5G>A | |
| ENST00000566083.5:n.1073G>A | ||
| ENST00000566824.5:n.891G>A | ||
| ENST00000567495.5:c.*74+5G>A | ENSP00000456013.1:n.*74+5G>A | |
| ENST00000567963.5:c.837+5G>A | ENSP00000455387.1:n.837+5G>A | |
| ENST00000568076.5:n.620+5G>A | ||
| ENST00000568224.4:c.603+5G>A | ENSP00000454253.1:n.603+5G>A | |
| ENST00000568422.5:c.*74+5G>A | ENSP00000455549.1:n.*74+5G>A | |
| ENST00000568452.5:n.837+5G>A | ||
| ENST00000568472.5:n.317+5G>A | ||
| ENST00000568497.5:c.*133+5G>A | ENSP00000456414.1:n.*133+5G>A | |
| ENST00000568558.5:c.378+5G>A | ENSP00000455603.1:n.378+5G>A | |
| ENST00000569030.5:c.507+5G>A | ENSP00000454680.1:n.507+5G>A | |
| ENST00000569430.5:c.837+5G>A | ENSP00000454229.1:n.837+5G>A | |
| ENST00000628023.2:c.*133+5G>A | ENSP00000486178.1:n.*133+5G>A | |
| ENST00000631023.2:c.837+5G>A | ENSP00000486616.1:n.837+5G>A | |
| NM_000086.2:c.837+5G>A , LRG_689t1:c.837+5G>A | NP_000077.1:n.837+5G>A | |
| NM_001042432.1:c.837+5G>A , LRG_689t2:c.837+5G>A | NP_001035897.1:n.837+5G>A | |
| NM_001286104.1:c.765+5G>A | NP_001273033.1:n.765+5G>A | |
| NM_001286105.1:c.537+5G>A | NP_001273034.1:n.537+5G>A | |
| NM_001286109.1:c.603+5G>A | NP_001273038.1:n.603+5G>A | |
| NM_001286110.1:c.675+5G>A | NP_001273039.1:n.675+5G>A | |
| NM_001042432.2:c.837+5G>A MANE Select | NP_001035897.1:n.837+5G>A | |
| NM_001286104.2:c.765+5G>A | NP_001273033.1:n.765+5G>A | |
| NM_001286105.2:c.537+5G>A | NP_001273034.1:n.537+5G>A | |
| NM_001286109.2:c.603+5G>A | NP_001273038.1:n.603+5G>A | |
| NM_001286110.2:c.675+5G>A | NP_001273039.1:n.675+5G>A |