Linked Data
ClinVar Variation Id:
56251
dbSNP Id:
rs386833702
ExAC:
16:28488957 C / A
gnomAD v2:
16-28488957-C-A
gnomAD v3:
16-28477636-C-A
gnomAD v4:
16-28477636-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477636C>A , CM000678.2:g.28477636C>A | GRCh38 |
| NC_000016.9:g.28488957C>A , CM000678.1:g.28488957C>A | GRCh37 |
| NC_000016.8:g.28396458C>A | NCBI36 |
| NG_008654.2:g.19667G>T , LRG_689:g.19667G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1126-1G>T | ENSP00000329171.9:n.1126-1G>T | |
| ENST00000355477.10:c.1054-1G>T | ENSP00000347660.7:n.1054-1G>T | |
| ENST00000357857.14:c.1036-1G>T | ENSP00000350523.9:n.1036-1G>T | |
| ENST00000359984.12:c.1198-1G>T | ENSP00000353073.9:n.1198-1G>T | |
| ENST00000360019.8:c.1126-1G>T | ENSP00000353116.3:n.1126-1G>T | |
| ENST00000395653.9:c.739-1G>T | ENSP00000379014.5:n.739-1G>T | |
| ENST00000561689.6:n.1611-1G>T | ||
| ENST00000564091.6:c.538-1G>T | ENSP00000454466.2:n.538-1G>T | |
| ENST00000565316.6:c.1147-1G>T | ENSP00000456117.1:n.1147-1G>T | |
| ENST00000567963.6:c.1036-1G>T | ENSP00000455387.2:n.1036-1G>T | |
| ENST00000568076.6:n.1627-1G>T | ||
| ENST00000568422.6:c.*435-1G>T | ENSP00000455549.2:n.*435-1G>T | |
| ENST00000568452.6:n.1429-1G>T | ||
| ENST00000569430.7:c.1198-1G>T | ENSP00000454229.1:n.1198-1G>T | |
| ENST00000628023.3:c.*494-1G>T | ENSP00000486178.1:n.*494-1G>T | |
| ENST00000635861.1:c.*850-1G>T | ENSP00000490034.1:n.*850-1G>T | |
| ENST00000635887.1:c.1198-1G>T | ENSP00000490709.1:n.1198-1G>T | |
| ENST00000635958.1:n.1605-1G>T | ||
| ENST00000636017.1:c.*722-1G>T | ENSP00000490538.1:n.*722-1G>T | |
| ENST00000636078.1:n.1320-1G>T | ||
| ENST00000636147.2:c.1198-1G>T MANE Select | ENSP00000490105.1:n.1198-1G>T | |
| ENST00000636172.1:c.*722-1G>T | ENSP00000490505.1:n.*722-1G>T | |
| ENST00000636228.1:c.892-1G>T | ENSP00000489627.1:n.892-1G>T | |
| ENST00000636351.1:n.1092-1G>T | ||
| ENST00000636503.1:c.*228-1G>T | ENSP00000489824.1:n.*228-1G>T | |
| ENST00000636766.1:c.1198-1G>T | ENSP00000489841.1:n.1198-1G>T | |
| ENST00000636839.1:n.1694-1G>T | ||
| ENST00000636853.1:n.2211-1G>T | ||
| ENST00000636866.1:c.1198-6G>T | ENSP00000490880.1:n.1198-6G>T | |
| ENST00000636907.1:n.1349-1G>T | ||
| ENST00000636977.1:n.2690-1G>T | ||
| ENST00000637050.1:n.1587-1G>T | ||
| ENST00000637100.1:c.1006-3374G>T | ENSP00000490394.1:n.1006-3374G>T | |
| ENST00000637107.1:c.*722-1G>T | ENSP00000490248.1:n.*722-1G>T | |
| ENST00000637184.1:c.*228-1G>T | ENSP00000489952.1:n.*228-1G>T | |
| ENST00000637299.1:c.*1007-1G>T | ENSP00000489823.1:n.*1007-1G>T | |
| ENST00000637376.1:c.*228-1G>T | ENSP00000490758.1:n.*228-1G>T | |
| ENST00000637378.1:c.228+4469G>T | ENSP00000490831.1:n.228+4469G>T | |
| ENST00000637578.1:c.*722-1G>T | ENSP00000490206.1:n.*722-1G>T | |
| ENST00000637699.1:c.1109-1G>T | ENSP00000490049.1:n.1109-1G>T | |
| ENST00000637745.1:c.635-1G>T | ||
| ENST00000637871.1:c.*896-1G>T | ENSP00000490670.1:n.*896-1G>T | |
| ENST00000638036.1:c.360-1G>T | ||
| ENST00000333496.13:c.1126-1G>T | ENSP00000329171.9:n.1126-1G>T | |
| ENST00000355477.9:c.*435-1G>T | ENSP00000347660.6:n.*435-1G>T | |
| ENST00000357806.11:c.901-1G>T | ENSP00000350457.7:n.901-1G>T | |
| ENST00000357857.13:c.1036-1G>T | ENSP00000350523.9:n.1036-1G>T | |
| ENST00000359984.11:c.892-1G>T | ENSP00000353073.8:n.892-1G>T | |
| ENST00000360019.6:c.1198-1G>T | ENSP00000353116.2:n.1198-1G>T | |
| ENST00000395653.8:c.898-1G>T | ENSP00000379014.4:n.898-1G>T | |
| ENST00000561689.5:n.1167-1G>T | ||
| ENST00000563874.5:n.2726-1G>T | ||
| ENST00000564091.5:c.287-1G>T | ||
| ENST00000565140.5:c.1106-1G>T | ENSP00000455342.1:n.1106-1G>T | |
| ENST00000565316.5:c.1147-1G>T | ENSP00000456117.1:n.1147-1G>T | |
| ENST00000565354.5:n.511-1G>T | ||
| ENST00000566057.5:c.812-1G>T | ENSP00000456693.1:n.812-1G>T | |
| ENST00000567963.5:c.907-1G>T | ENSP00000455387.1:n.907-1G>T | |
| ENST00000568076.5:n.1109-1G>T | ||
| ENST00000568224.4:c.964-1G>T | ENSP00000454253.1:n.964-1G>T | |
| ENST00000568422.5:c.*435-1G>T | ENSP00000455549.1:n.*435-1G>T | |
| ENST00000568452.5:n.1326-1G>T | ||
| ENST00000569030.5:c.990-1G>T | ENSP00000454680.1:n.990-1G>T | |
| ENST00000569430.5:c.1198-1G>T | ENSP00000454229.1:n.1198-1G>T | |
| ENST00000628023.2:c.*494-1G>T | ENSP00000486178.1:n.*494-1G>T | |
| ENST00000631023.2:c.907-1G>T | ENSP00000486616.1:n.907-1G>T | |
| NM_000086.2:c.1198-1G>T , LRG_689t1:c.1198-1G>T | NP_000077.1:n.1198-1G>T | |
| NM_001042432.1:c.1198-1G>T , LRG_689t2:c.1198-1G>T | NP_001035897.1:n.1198-1G>T | |
| NM_001286104.1:c.1126-1G>T | NP_001273033.1:n.1126-1G>T | |
| NM_001286105.1:c.898-1G>T | NP_001273034.1:n.898-1G>T | |
| NM_001286109.1:c.964-1G>T | NP_001273038.1:n.964-1G>T | |
| NM_001286110.1:c.1036-1G>T | NP_001273039.1:n.1036-1G>T | |
| NM_001042432.2:c.1198-1G>T MANE Select | NP_001035897.1:n.1198-1G>T | |
| NM_001286104.2:c.1126-1G>T | NP_001273033.1:n.1126-1G>T | |
| NM_001286105.2:c.898-1G>T | NP_001273034.1:n.898-1G>T | |
| NM_001286109.2:c.964-1G>T | NP_001273038.1:n.964-1G>T | |
| NM_001286110.2:c.1036-1G>T | NP_001273039.1:n.1036-1G>T |