Linked Data
ClinVar Variation Id:
371459
ClinVar RCV Id:
RCV000410679
dbSNP Id:
rs1057517287
gnomAD v4:
16-28486346-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28486346C>A , CM000678.2:g.28486346C>A | GRCh38 |
| NC_000016.9:g.28497667C>A , CM000678.1:g.28497667C>A | GRCh37 |
| NC_000016.8:g.28405168C>A | NCBI36 |
| NG_008654.2:g.10957G>T , LRG_689:g.10957G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.605+1G>T | ENSP00000329171.9:n.605+1G>T | |
| ENST00000355477.10:c.533+232G>T | ENSP00000347660.7:n.533+232G>T | |
| ENST00000357857.14:c.515+1G>T | ENSP00000350523.9:n.515+1G>T | |
| ENST00000359984.12:c.677+1G>T | ENSP00000353073.9:n.677+1G>T | |
| ENST00000360019.8:c.605+1G>T | ENSP00000353116.3:n.605+1G>T | |
| ENST00000395653.9:c.218+1110G>T | ENSP00000379014.5:n.218+1110G>T | |
| ENST00000561689.6:n.962+1G>T | ||
| ENST00000564091.6:c.17+1G>T | ENSP00000454466.2:n.17+1G>T | |
| ENST00000565316.6:c.677+1G>T | ENSP00000456117.1:n.677+1G>T | |
| ENST00000565778.6:c.308+1110G>T | ENSP00000458015.1:n.308+1110G>T | |
| ENST00000566083.6:n.1135+1G>T | ||
| ENST00000566824.6:n.657+1G>T | ||
| ENST00000567495.6:c.*136+1G>T | ENSP00000456013.2:n.*136+1G>T | |
| ENST00000567963.6:c.515+1G>T | ENSP00000455387.2:n.515+1G>T | |
| ENST00000568076.6:n.804+1G>T | ||
| ENST00000568422.6:c.460+1110G>T | ENSP00000455549.2:n.460+1110G>T | |
| ENST00000568452.6:n.780+1G>T | ||
| ENST00000568472.6:n.553+1110G>T | ||
| ENST00000568497.6:c.-292-2228G>T | ENSP00000456414.2:n.-292-2228G>T | |
| ENST00000568558.6:c.380+1110G>T | ENSP00000455603.2:n.380+1110G>T | |
| ENST00000569430.7:c.677+1G>T | ENSP00000454229.1:n.677+1G>T | |
| ENST00000628023.3:c.223-2228G>T | ENSP00000486178.1:n.223-2228G>T | |
| ENST00000635861.1:c.*201+1G>T | ENSP00000490034.1:n.*201+1G>T | |
| ENST00000635887.1:c.677+1G>T | ENSP00000490709.1:n.677+1G>T | |
| ENST00000635958.1:n.788+1G>T | ||
| ENST00000635973.1:c.428+1G>T | ENSP00000490363.1:n.428+1G>T | |
| ENST00000636017.1:c.*201+1G>T | ENSP00000490538.1:n.*201+1G>T | |
| ENST00000636078.1:n.719+1G>T | ||
| ENST00000636147.2:c.677+1G>T MANE Select | ENSP00000490105.1:n.677+1G>T | |
| ENST00000636172.1:c.*201+1G>T | ENSP00000490505.1:n.*201+1G>T | |
| ENST00000636228.1:c.371+232G>T | ENSP00000489627.1:n.371+232G>T | |
| ENST00000636351.1:n.397+1G>T | ||
| ENST00000636503.1:c.677+1G>T | ENSP00000489824.1:n.677+1G>T | |
| ENST00000636766.1:c.677+1G>T | ENSP00000489841.1:n.677+1G>T | |
| ENST00000636839.1:n.829+1G>T | ||
| ENST00000636853.1:n.1592+1G>T | ||
| ENST00000636866.1:c.677+1G>T | ENSP00000490880.1:n.677+1G>T | |
| ENST00000636977.1:n.1745+1G>T | ||
| ENST00000637100.1:c.677+1G>T | ENSP00000490394.1:n.677+1G>T | |
| ENST00000637107.1:c.*201+1G>T | ENSP00000490248.1:n.*201+1G>T | |
| ENST00000637184.1:c.677+1G>T | ENSP00000489952.1:n.677+1G>T | |
| ENST00000637299.1:c.*486+1G>T | ENSP00000489823.1:n.*486+1G>T | |
| ENST00000637376.1:c.677+1G>T | ENSP00000490758.1:n.677+1G>T | |
| ENST00000637578.1:c.*201+1G>T | ENSP00000490206.1:n.*201+1G>T | |
| ENST00000637699.1:c.460+1110G>T | ENSP00000490049.1:n.460+1110G>T | |
| ENST00000637745.1:c.16+1G>T | ||
| ENST00000637871.1:c.*201+1G>T | ENSP00000490670.1:n.*201+1G>T | |
| ENST00000333496.13:c.605+1G>T | ENSP00000329171.9:n.605+1G>T | |
| ENST00000355477.9:c.460+1110G>T | ENSP00000347660.6:n.460+1110G>T | |
| ENST00000357806.11:c.380+1110G>T | ENSP00000350457.7:n.380+1110G>T | |
| ENST00000357857.13:c.515+1G>T | ENSP00000350523.9:n.515+1G>T | |
| ENST00000359984.11:c.371+232G>T | ENSP00000353073.8:n.371+232G>T | |
| ENST00000360019.6:c.677+1G>T | ENSP00000353116.2:n.677+1G>T | |
| ENST00000395653.8:c.377+1G>T | ENSP00000379014.4:n.377+1G>T | |
| ENST00000561689.5:n.518+1G>T | ||
| ENST00000563874.5:n.2031+1G>T | ||
| ENST00000564574.5:n.725+1G>T | ||
| ENST00000565047.1:n.271+1110G>T | ||
| ENST00000565140.5:c.460+1110G>T | ENSP00000455342.1:n.460+1110G>T | |
| ENST00000565316.5:c.677+1G>T | ENSP00000456117.1:n.677+1G>T | |
| ENST00000565688.5:c.428+1G>T | ENSP00000456122.1:n.428+1G>T | |
| ENST00000565778.5:c.308+1110G>T | ENSP00000458015.1:n.308+1110G>T | |
| ENST00000566057.5:c.291+1110G>T | ENSP00000456693.1:n.291+1110G>T | |
| ENST00000566083.5:n.908+1G>T | ||
| ENST00000566824.5:n.726+1G>T | ||
| ENST00000567495.5:c.460+1110G>T | ENSP00000456013.1:n.460+1110G>T | |
| ENST00000567963.5:c.677+1G>T | ENSP00000455387.1:n.677+1G>T | |
| ENST00000568076.5:n.460+1110G>T | ||
| ENST00000568224.4:c.443+1G>T | ENSP00000454253.1:n.443+1G>T | |
| ENST00000568422.5:c.313+232G>T | ENSP00000455549.1:n.313+232G>T | |
| ENST00000568452.5:n.677+1G>T | ||
| ENST00000568472.5:n.158-2228G>T | ||
| ENST00000568497.5:c.223-2228G>T | ENSP00000456414.1:n.223-2228G>T | |
| ENST00000568558.5:c.218+1110G>T | ENSP00000455603.1:n.218+1110G>T | |
| ENST00000569030.5:c.460+1110G>T | ENSP00000454680.1:n.460+1110G>T | |
| ENST00000569430.5:c.677+1G>T | ENSP00000454229.1:n.677+1G>T | |
| ENST00000628023.2:c.223-2228G>T | ENSP00000486178.1:n.223-2228G>T | |
| ENST00000631023.2:c.677+1G>T | ENSP00000486616.1:n.677+1G>T | |
| NM_000086.2:c.677+1G>T , LRG_689t1:c.677+1G>T | NP_000077.1:n.677+1G>T | |
| NM_001042432.1:c.677+1G>T , LRG_689t2:c.677+1G>T | NP_001035897.1:n.677+1G>T | |
| NM_001286104.1:c.605+1G>T | NP_001273033.1:n.605+1G>T | |
| NM_001286105.1:c.377+1G>T | NP_001273034.1:n.377+1G>T | |
| NM_001286109.1:c.443+1G>T | NP_001273038.1:n.443+1G>T | |
| NM_001286110.1:c.515+1G>T | NP_001273039.1:n.515+1G>T | |
| NM_001042432.2:c.677+1G>T MANE Select | NP_001035897.1:n.677+1G>T | |
| NM_001286104.2:c.605+1G>T | NP_001273033.1:n.605+1G>T | |
| NM_001286105.2:c.377+1G>T | NP_001273034.1:n.377+1G>T | |
| NM_001286109.2:c.443+1G>T | NP_001273038.1:n.443+1G>T | |
| NM_001286110.2:c.515+1G>T | NP_001273039.1:n.515+1G>T |