Linked Data
ClinVar Variation Id:
1359744
ClinVar RCV Id:
RCV001904522
dbSNP Id:
rs1295758958
gnomAD v2:
16-28495377-C-T
gnomAD v4:
16-28484056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484056C>T , CM000678.2:g.28484056C>T | GRCh38 |
| NC_000016.9:g.28495377C>T , CM000678.1:g.28495377C>T | GRCh37 |
| NC_000016.8:g.28402878C>T | NCBI36 |
| NG_008654.2:g.13247G>A , LRG_689:g.13247G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.668G>A | ENSP00000329171.9:p.Ser223Asn | |
| ENST00000355477.10:c.596G>A | ENSP00000347660.7:p.Ser199Asn | |
| ENST00000357857.14:c.578G>A | ENSP00000350523.9:p.Ser193Asn | |
| ENST00000359984.12:c.740G>A | ENSP00000353073.9:p.Ser247Asn | |
| ENST00000360019.8:c.668G>A | ENSP00000353116.3:p.Ser223Asn | |
| ENST00000395653.9:c.281G>A | ENSP00000379014.5:p.Ser94Asn | |
| ENST00000561689.6:n.1025G>A | ||
| ENST00000564091.6:c.80G>A | ENSP00000454466.2:p.Ser27Asn | |
| ENST00000565316.6:c.740G>A | ENSP00000456117.1:p.Ser247Asn | |
| ENST00000565778.6:c.371G>A | ENSP00000458015.1:p.Ser124Asn | |
| ENST00000566083.6:n.1198G>A | ||
| ENST00000566824.6:n.720G>A | ||
| ENST00000567963.6:c.578G>A | ENSP00000455387.2:p.Ser193Asn | |
| ENST00000568076.6:n.867G>A | ||
| ENST00000568422.6:c.523G>A | ENSP00000455549.2:p.Ala175Thr | |
| ENST00000568452.6:n.843G>A | ||
| ENST00000568472.6:n.616G>A | ||
| ENST00000568497.6:c.-230G>A | ENSP00000456414.2:n.-230G>A | |
| ENST00000568558.6:c.443G>A | ENSP00000455603.2:p.Ser148Asn | |
| ENST00000569430.7:c.740G>A | ENSP00000454229.1:p.Ser247Asn | |
| ENST00000628023.3:c.*36G>A | ENSP00000486178.1:n.*36G>A | |
| ENST00000635861.1:c.*264G>A | ENSP00000490034.1:n.*264G>A | |
| ENST00000635887.1:c.740G>A | ENSP00000490709.1:p.Ser247Asn | |
| ENST00000635958.1:n.851G>A | ||
| ENST00000635973.1:c.491G>A | ENSP00000490363.1:p.Ser164Asn | |
| ENST00000636017.1:c.*264G>A | ENSP00000490538.1:n.*264G>A | |
| ENST00000636078.1:n.782G>A | ||
| ENST00000636147.2:c.740G>A MANE Select | ENSP00000490105.1:p.Ser247Asn | |
| ENST00000636172.1:c.*264G>A | ENSP00000490505.1:n.*264G>A | |
| ENST00000636228.1:c.434G>A | ENSP00000489627.1:p.Ser145Asn | |
| ENST00000636351.1:n.460G>A | ||
| ENST00000636503.1:c.740G>A | ENSP00000489824.1:p.Ser247Asn | |
| ENST00000636685.1:n.247G>A | ||
| ENST00000636766.1:c.740G>A | ENSP00000489841.1:p.Ser247Asn | |
| ENST00000636839.1:n.892G>A | ||
| ENST00000636853.1:n.1655G>A | ||
| ENST00000636866.1:c.740G>A | ENSP00000490880.1:p.Ser247Asn | |
| ENST00000636907.1:n.891G>A | ||
| ENST00000636977.1:n.1808G>A | ||
| ENST00000637050.1:n.827G>A | ||
| ENST00000637100.1:c.740G>A | ENSP00000490394.1:p.Ser247Asn | |
| ENST00000637107.1:c.*264G>A | ENSP00000490248.1:n.*264G>A | |
| ENST00000637184.1:c.740G>A | ENSP00000489952.1:p.Ser247Asn | |
| ENST00000637299.1:c.*549G>A | ENSP00000489823.1:n.*549G>A | |
| ENST00000637376.1:c.740G>A | ENSP00000490758.1:p.Ser247Asn | |
| ENST00000637578.1:c.*264G>A | ENSP00000490206.1:n.*264G>A | |
| ENST00000637699.1:c.523G>A | ENSP00000490049.1:p.Ala175Thr | |
| ENST00000637745.1:c.79G>A | ||
| ENST00000637871.1:c.*264G>A | ENSP00000490670.1:n.*264G>A | |
| ENST00000333496.13:c.668G>A | ENSP00000329171.9:p.Ser223Asn | |
| ENST00000355477.9:c.523G>A | ENSP00000347660.6:p.Ala175Thr | |
| ENST00000357806.11:c.443G>A | ENSP00000350457.7:p.Ser148Asn | |
| ENST00000357857.13:c.578G>A | ENSP00000350523.9:p.Ser193Asn | |
| ENST00000359984.11:c.434G>A | ENSP00000353073.8:p.Ser145Asn | |
| ENST00000360019.6:c.740G>A | ENSP00000353116.2:p.Ser247Asn | |
| ENST00000395653.8:c.440G>A | ENSP00000379014.4:p.Ser147Asn | |
| ENST00000561689.5:n.581G>A | ||
| ENST00000563874.5:n.2094G>A | ||
| ENST00000564574.5:n.788G>A | ||
| ENST00000565047.1:n.334G>A | ||
| ENST00000565140.5:c.523G>A | ENSP00000455342.1:p.Ala175Thr | |
| ENST00000565316.5:c.740G>A | ENSP00000456117.1:p.Ser247Asn | |
| ENST00000565688.5:c.491G>A | ENSP00000456122.1:p.Ser164Asn | |
| ENST00000565778.5:c.371G>A | ENSP00000458015.1:p.Ser124Asn | |
| ENST00000566057.5:c.354G>A | ENSP00000456693.1:n.354G>A | |
| ENST00000566083.5:n.971G>A | ||
| ENST00000566824.5:n.789G>A | ||
| ENST00000567495.5:c.523G>A | ENSP00000456013.1:p.Ala175Thr | |
| ENST00000567963.5:c.740G>A | ENSP00000455387.1:p.Ser247Asn | |
| ENST00000568076.5:n.523G>A | ||
| ENST00000568224.4:c.506G>A | ENSP00000454253.1:p.Ser169Asn | |
| ENST00000568422.5:c.376G>A | ENSP00000455549.1:p.Ala126Thr | |
| ENST00000568452.5:n.740G>A | ||
| ENST00000568472.5:n.220G>A | ||
| ENST00000568497.5:c.*36G>A | ENSP00000456414.1:n.*36G>A | |
| ENST00000568558.5:c.281G>A | ENSP00000455603.1:p.Ser94Asn | |
| ENST00000569030.5:c.461-1384G>A | ENSP00000454680.1:n.461-1384G>A | |
| ENST00000569430.5:c.740G>A | ENSP00000454229.1:p.Ser247Asn | |
| ENST00000628023.2:c.*36G>A | ENSP00000486178.1:n.*36G>A | |
| ENST00000631023.2:c.740G>A | ENSP00000486616.1:p.Ser247Asn | |
| NM_000086.2:c.740G>A , LRG_689t1:c.740G>A | NP_000077.1:p.Ser247Asn | |
| NM_001042432.1:c.740G>A , LRG_689t2:c.740G>A | NP_001035897.1:p.Ser247Asn | |
| NM_001286104.1:c.668G>A | NP_001273033.1:p.Ser223Asn | |
| NM_001286105.1:c.440G>A | NP_001273034.1:p.Ser147Asn | |
| NM_001286109.1:c.506G>A | NP_001273038.1:p.Ser169Asn | |
| NM_001286110.1:c.578G>A | NP_001273039.1:p.Ser193Asn | |
| NM_001042432.2:c.740G>A MANE Select | NP_001035897.1:p.Ser247Asn | |
| NM_001286104.2:c.668G>A | NP_001273033.1:p.Ser223Asn | |
| NM_001286105.2:c.440G>A | NP_001273034.1:p.Ser147Asn | |
| NM_001286109.2:c.506G>A | NP_001273038.1:p.Ser169Asn | |
| NM_001286110.2:c.578G>A | NP_001273039.1:p.Ser193Asn |