Linked Data
ClinVar Variation Id:
468063
dbSNP Id:
rs144098854
ExAC:
16:2134297 C / T
gnomAD v2:
16-2134297-C-T
gnomAD v4:
16-2084296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084296C>T , CM000678.2:g.2084296C>T | GRCh38 |
| NC_000016.9:g.2134297C>T , CM000678.1:g.2134297C>T | GRCh37 |
| NC_000016.8:g.2074298C>T | NCBI36 |
| NG_005895.1:g.39991C>T , LRG_487:g.39991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2423C>T | ENSP00000455997.2:n.*2423C>T | |
| ENST00000642206.2:c.3921C>T | ENSP00000495146.2:p.Pro1307= | |
| ENST00000642365.2:c.4071C>T | ENSP00000495459.2:p.Pro1357= | |
| ENST00000644417.2:c.*4454C>T | ENSP00000493912.2:n.*4454C>T | |
| ENST00000646464.2:c.*6823C>T | ENSP00000496610.2:n.*6823C>T | |
| ENST00000219476.9:c.4074C>T MANE Select | ENSP00000219476.3:p.Pro1358= | |
| ENST00000350773.9:c.4005C>T | ENSP00000344383.4:p.Pro1335= | |
| ENST00000401874.7:c.3873C>T | ENSP00000384468.2:p.Pro1291= | |
| ENST00000568454.6:c.3906C>T | ENSP00000454487.1:p.Pro1302= | |
| ENST00000569110.2:c.310C>T | ||
| ENST00000569930.2:n.1956C>T | ||
| ENST00000642365.1:c.2728C>T | ||
| ENST00000642561.1:c.3945C>T | ENSP00000495099.1:p.Pro1315= | |
| ENST00000642728.1:n.256C>T | ||
| ENST00000642797.1:c.3876C>T | ENSP00000493846.1:p.Pro1292= | |
| ENST00000642936.1:c.3942C>T | ENSP00000494514.1:p.Pro1314= | |
| ENST00000643088.1:c.3873C>T | ENSP00000494747.1:p.Pro1291= | |
| ENST00000643177.1:n.88C>T | ||
| ENST00000643426.1:n.1722C>T | ||
| ENST00000643533.1:n.515C>T | ||
| ENST00000643946.1:c.4005C>T | ENSP00000495927.1:p.Pro1335= | |
| ENST00000644043.1:c.3945C>T | ENSP00000496262.1:p.Pro1315= | |
| ENST00000644329.1:c.3873C>T | ENSP00000496611.1:p.Pro1291= | |
| ENST00000644335.1:c.3876C>T | ENSP00000496317.1:p.Pro1292= | |
| ENST00000644399.1:c.3995C>T | ||
| ENST00000645024.1:n.2158C>T | ||
| ENST00000645186.1:c.317C>T | ||
| ENST00000646388.1:c.4074C>T | ENSP00000495921.1:p.Pro1358= | |
| ENST00000646634.1:n.2889C>T | ||
| ENST00000646674.1:n.1326C>T | ||
| ENST00000647042.1:n.1297C>T | ||
| ENST00000647180.1:n.1187C>T | ||
| ENST00000219476.7:c.4074C>T | ENSP00000219476.3:p.Pro1358= | |
| ENST00000350773.8:c.4005C>T | ENSP00000344383.4:p.Pro1335= | |
| ENST00000382538.10:c.3729C>T | ENSP00000371978.6:p.Pro1243= | |
| ENST00000401874.6:c.3873C>T | ENSP00000384468.2:p.Pro1291= | |
| ENST00000439117.6:c.*3241C>T | ENSP00000406980.2:n.*3241C>T | |
| ENST00000439673.6:c.3765C>T | ENSP00000399232.2:p.Pro1255= | |
| ENST00000497886.5:n.1832C>T | ||
| ENST00000568454.5:c.3906C>T | ENSP00000454487.1:p.Pro1302= | |
| ENST00000569110.1:c.256C>T | ||
| ENST00000569930.1:n.1189C>T | ||
| NM_000548.3:c.4074C>T , LRG_487t1:c.4074C>T | NP_000539.2:p.Pro1358= | |
| NM_001077183.1:c.3873C>T | NP_001070651.1:p.Pro1291= | |
| NM_001114382.1:c.4005C>T | NP_001107854.1:p.Pro1335= | |
| XM_005255529.3:c.3945C>T | XP_005255586.2:p.Pro1315= | |
| XM_005255531.3:c.3876C>T | XP_005255588.2:p.Pro1292= | |
| XM_011522636.1:c.4128C>T | XP_011520938.1:p.Pro1376= | |
| XM_011522637.1:c.4125C>T | XP_011520939.1:p.Pro1375= | |
| XM_011522638.1:c.4017C>T | XP_011520940.1:p.Pro1339= | |
| XM_011522639.1:c.3999C>T | XP_011520941.1:p.Pro1333= | |
| XM_011522640.1:c.3996C>T | XP_011520942.1:p.Pro1332= | |
| XM_011522641.1:c.3765C>T | XP_011520943.1:p.Pro1255= | |
| NM_000548.4:c.4074C>T | NP_000539.2:p.Pro1358= | |
| NM_001077183.2:c.3873C>T | NP_001070651.1:p.Pro1291= | |
| NM_001114382.2:c.4005C>T | NP_001107854.1:p.Pro1335= | |
| NM_001318827.1:c.3765C>T | NP_001305756.1:p.Pro1255= | |
| NM_001318829.1:c.3729C>T | NP_001305758.1:p.Pro1243= | |
| NM_001318831.1:c.3342C>T | NP_001305760.1:p.Pro1114= | |
| NM_001318832.1:c.3906C>T | NP_001305761.1:p.Pro1302= | |
| NM_001363528.1:c.3876C>T | NP_001350457.1:p.Pro1292= | |
| NM_021055.2:c.3945C>T | NP_066399.2:p.Pro1315= | |
| XM_005255531.4:c.3876C>T | XP_005255588.2:p.Pro1292= | |
| XM_011522636.2:c.4128C>T | XP_011520938.1:p.Pro1376= | |
| XM_011522637.2:c.4125C>T | XP_011520939.1:p.Pro1375= | |
| XM_011522638.2:c.4290C>T | XP_011520940.2:p.Pro1430= | |
| XM_011522639.2:c.3999C>T | XP_011520941.1:p.Pro1333= | |
| XM_011522640.2:c.3996C>T | XP_011520942.1:p.Pro1332= | |
| XM_017023615.1:c.4071C>T | XP_016879104.1:p.Pro1357= | |
| XM_017023616.1:c.3942C>T | XP_016879105.1:p.Pro1314= | |
| XM_017023617.1:c.4038C>T | XP_016879106.1:p.Pro1346= | |
| XM_017023618.1:c.2784C>T | XP_016879107.1:p.Pro928= | |
| XM_024450413.1:c.3873C>T | XP_024306181.1:p.Pro1291= | |
| NM_000548.5:c.4074C>T MANE Select | NP_000539.2:p.Pro1358= | |
| NM_001370404.1:c.3942C>T | NP_001357333.1:p.Pro1314= | |
| NM_001370405.1:c.3945C>T | NP_001357334.1:p.Pro1315= | |
| NM_001077183.3:c.3873C>T | NP_001070651.1:p.Pro1291= | |
| NM_001114382.3:c.4005C>T | NP_001107854.1:p.Pro1335= | |
| NM_001318827.2:c.3765C>T | NP_001305756.1:p.Pro1255= | |
| NM_001318829.2:c.3729C>T | NP_001305758.1:p.Pro1243= | |
| NM_001318831.2:c.3342C>T | NP_001305760.1:p.Pro1114= | |
| NM_001318832.2:c.3906C>T | NP_001305761.1:p.Pro1302= | |
| NM_001363528.2:c.3876C>T | NP_001350457.1:p.Pro1292= | |
| NM_021055.3:c.3945C>T | NP_066399.2:p.Pro1315= |