Linked Data
ClinVar Variation Id:
230390
dbSNP Id:
rs769653533
ExAC:
16:2134360 G / A
gnomAD v2:
16-2134360-G-A
gnomAD v3:
16-2084359-G-A
gnomAD v4:
16-2084359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084359G>A , CM000678.2:g.2084359G>A | GRCh38 |
| NC_000016.9:g.2134360G>A , CM000678.1:g.2134360G>A | GRCh37 |
| NC_000016.8:g.2074361G>A | NCBI36 |
| NG_005895.1:g.40054G>A , LRG_487:g.40054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2486G>A | ENSP00000455997.2:n.*2486G>A | |
| ENST00000642206.2:c.3984G>A | ENSP00000495146.2:p.Ser1328= | |
| ENST00000642365.2:c.4134G>A | ENSP00000495459.2:p.Ser1378= | |
| ENST00000644417.2:c.*4517G>A | ENSP00000493912.2:n.*4517G>A | |
| ENST00000646464.2:c.*6886G>A | ENSP00000496610.2:n.*6886G>A | |
| ENST00000219476.9:c.4137G>A MANE Select | ENSP00000219476.3:p.Ser1379= | |
| ENST00000350773.9:c.4068G>A | ENSP00000344383.4:p.Ser1356= | |
| ENST00000401874.7:c.3936G>A | ENSP00000384468.2:p.Ser1312= | |
| ENST00000568454.6:c.3969G>A | ENSP00000454487.1:p.Ser1323= | |
| ENST00000569110.2:c.373G>A | ||
| ENST00000569930.2:n.2019G>A | ||
| ENST00000642365.1:c.2791G>A | ||
| ENST00000642561.1:c.4008G>A | ENSP00000495099.1:p.Ser1336= | |
| ENST00000642728.1:n.319G>A | ||
| ENST00000642797.1:c.3939G>A | ENSP00000493846.1:p.Ser1313= | |
| ENST00000642936.1:c.4005G>A | ENSP00000494514.1:p.Ser1335= | |
| ENST00000643088.1:c.3936G>A | ENSP00000494747.1:p.Ser1312= | |
| ENST00000643177.1:n.151G>A | ||
| ENST00000643426.1:n.1785G>A | ||
| ENST00000643946.1:c.4068G>A | ENSP00000495927.1:p.Ser1356= | |
| ENST00000644043.1:c.4008G>A | ENSP00000496262.1:p.Ser1336= | |
| ENST00000644329.1:c.3936G>A | ENSP00000496611.1:p.Ser1312= | |
| ENST00000644335.1:c.3939G>A | ENSP00000496317.1:p.Ser1313= | |
| ENST00000644399.1:c.4058G>A | ||
| ENST00000645024.1:n.2221G>A | ||
| ENST00000645186.1:c.380G>A | ||
| ENST00000646388.1:c.4137G>A | ENSP00000495921.1:p.Ser1379= | |
| ENST00000646634.1:n.2952G>A | ||
| ENST00000646674.1:n.1389G>A | ||
| ENST00000647042.1:n.1360G>A | ||
| ENST00000647180.1:n.1250G>A | ||
| ENST00000219476.7:c.4137G>A | ENSP00000219476.3:p.Ser1379= | |
| ENST00000350773.8:c.4068G>A | ENSP00000344383.4:p.Ser1356= | |
| ENST00000382538.10:c.3792G>A | ENSP00000371978.6:p.Ser1264= | |
| ENST00000401874.6:c.3936G>A | ENSP00000384468.2:p.Ser1312= | |
| ENST00000439117.6:c.*3304G>A | ENSP00000406980.2:n.*3304G>A | |
| ENST00000439673.6:c.3828G>A | ENSP00000399232.2:p.Ser1276= | |
| ENST00000497886.5:n.1895G>A | ||
| ENST00000568454.5:c.3969G>A | ENSP00000454487.1:p.Ser1323= | |
| ENST00000569110.1:c.319G>A | ||
| ENST00000569930.1:n.1252G>A | ||
| NM_000548.3:c.4137G>A , LRG_487t1:c.4137G>A | NP_000539.2:p.Ser1379= | |
| NM_001077183.1:c.3936G>A | NP_001070651.1:p.Ser1312= | |
| NM_001114382.1:c.4068G>A | NP_001107854.1:p.Ser1356= | |
| XM_005255529.3:c.4008G>A | XP_005255586.2:p.Ser1336= | |
| XM_005255531.3:c.3939G>A | XP_005255588.2:p.Ser1313= | |
| XM_011522636.1:c.4191G>A | XP_011520938.1:p.Ser1397= | |
| XM_011522637.1:c.4188G>A | XP_011520939.1:p.Ser1396= | |
| XM_011522638.1:c.4080G>A | XP_011520940.1:p.Ser1360= | |
| XM_011522639.1:c.4062G>A | XP_011520941.1:p.Ser1354= | |
| XM_011522640.1:c.4059G>A | XP_011520942.1:p.Ser1353= | |
| XM_011522641.1:c.3828G>A | XP_011520943.1:p.Ser1276= | |
| NM_000548.4:c.4137G>A | NP_000539.2:p.Ser1379= | |
| NM_001077183.2:c.3936G>A | NP_001070651.1:p.Ser1312= | |
| NM_001114382.2:c.4068G>A | NP_001107854.1:p.Ser1356= | |
| NM_001318827.1:c.3828G>A | NP_001305756.1:p.Ser1276= | |
| NM_001318829.1:c.3792G>A | NP_001305758.1:p.Ser1264= | |
| NM_001318831.1:c.3405G>A | NP_001305760.1:p.Ser1135= | |
| NM_001318832.1:c.3969G>A | NP_001305761.1:p.Ser1323= | |
| NM_001363528.1:c.3939G>A | NP_001350457.1:p.Ser1313= | |
| NM_021055.2:c.4008G>A | NP_066399.2:p.Ser1336= | |
| XM_005255531.4:c.3939G>A | XP_005255588.2:p.Ser1313= | |
| XM_011522636.2:c.4191G>A | XP_011520938.1:p.Ser1397= | |
| XM_011522637.2:c.4188G>A | XP_011520939.1:p.Ser1396= | |
| XM_011522638.2:c.4353G>A | XP_011520940.2:p.Ser1451= | |
| XM_011522639.2:c.4062G>A | XP_011520941.1:p.Ser1354= | |
| XM_011522640.2:c.4059G>A | XP_011520942.1:p.Ser1353= | |
| XM_017023615.1:c.4134G>A | XP_016879104.1:p.Ser1378= | |
| XM_017023616.1:c.4005G>A | XP_016879105.1:p.Ser1335= | |
| XM_017023617.1:c.4101G>A | XP_016879106.1:p.Ser1367= | |
| XM_017023618.1:c.2847G>A | XP_016879107.1:p.Ser949= | |
| XM_024450413.1:c.3936G>A | XP_024306181.1:p.Ser1312= | |
| NM_000548.5:c.4137G>A MANE Select | NP_000539.2:p.Ser1379= | |
| NM_001370404.1:c.4005G>A | NP_001357333.1:p.Ser1335= | |
| NM_001370405.1:c.4008G>A | NP_001357334.1:p.Ser1336= | |
| NM_001077183.3:c.3936G>A | NP_001070651.1:p.Ser1312= | |
| NM_001114382.3:c.4068G>A | NP_001107854.1:p.Ser1356= | |
| NM_001318827.2:c.3828G>A | NP_001305756.1:p.Ser1276= | |
| NM_001318829.2:c.3792G>A | NP_001305758.1:p.Ser1264= | |
| NM_001318831.2:c.3405G>A | NP_001305760.1:p.Ser1135= | |
| NM_001318832.2:c.3969G>A | NP_001305761.1:p.Ser1323= | |
| NM_001363528.2:c.3939G>A | NP_001350457.1:p.Ser1313= | |
| NM_021055.3:c.4008G>A | NP_066399.2:p.Ser1336= |