Linked Data
ClinVar Variation Id:
49742
dbSNP Id:
rs45517172
ExAC:
16:2113058 C / T
gnomAD v2:
16-2113058-C-T
gnomAD v3:
16-2063057-C-T
gnomAD v4:
16-2063057-C-T
PubMed:
PMID:12111193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2063057C>T , CM000678.2:g.2063057C>T | GRCh38 |
| NC_000016.9:g.2113058C>T , CM000678.1:g.2113058C>T | GRCh37 |
| NC_000016.8:g.2053059C>T | NCBI36 |
| NG_005895.1:g.18752C>T , LRG_487:g.18752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.1361+457C>T | ENSP00000455997.2:n.1361+457C>T | |
| ENST00000642206.2:c.1488+4C>T | ENSP00000495146.2:n.1488+4C>T | |
| ENST00000642365.2:c.1443+4C>T | ENSP00000495459.2:n.1443+4C>T | |
| ENST00000644417.2:c.*880+4C>T | ENSP00000493912.2:n.*880+4C>T | |
| ENST00000646464.2:c.*1048+4C>T | ENSP00000496610.2:n.*1048+4C>T | |
| ENST00000219476.9:c.1443+4C>T MANE Select | ENSP00000219476.3:n.1443+4C>T | |
| ENST00000350773.9:c.1443+4C>T | ENSP00000344383.4:n.1443+4C>T | |
| ENST00000401874.7:c.1443+4C>T | ENSP00000384468.2:n.1443+4C>T | |
| ENST00000463601.2:n.357C>T | ||
| ENST00000568454.6:c.1476+4C>T | ENSP00000454487.1:n.1476+4C>T | |
| ENST00000642365.1:c.100+4C>T | ||
| ENST00000642561.1:c.1443+4C>T | ENSP00000495099.1:n.1443+4C>T | |
| ENST00000642797.1:c.1443+4C>T | ENSP00000493846.1:n.1443+4C>T | |
| ENST00000642812.1:n.1488+4C>T | ||
| ENST00000642936.1:c.1443+4C>T | ENSP00000494514.1:n.1443+4C>T | |
| ENST00000643088.1:c.1443+4C>T | ENSP00000494747.1:n.1443+4C>T | |
| ENST00000643149.1:n.3453+4C>T | ||
| ENST00000643298.1:c.*945+4C>T | ENSP00000494393.1:n.*945+4C>T | |
| ENST00000643745.1:c.*375+4C>T | ENSP00000495948.1:n.*375+4C>T | |
| ENST00000643946.1:c.1443+4C>T | ENSP00000495927.1:n.1443+4C>T | |
| ENST00000644043.1:c.1443+4C>T | ENSP00000496262.1:n.1443+4C>T | |
| ENST00000644135.1:c.1443+4C>T | ENSP00000495644.1:n.1443+4C>T | |
| ENST00000644222.1:n.1530+4C>T | ||
| ENST00000644329.1:c.1443+4C>T | ENSP00000496611.1:n.1443+4C>T | |
| ENST00000644335.1:c.1443+4C>T | ENSP00000496317.1:n.1443+4C>T | |
| ENST00000644399.1:c.1436+4C>T | ||
| ENST00000644665.1:n.2617+4C>T | ||
| ENST00000644847.1:n.435+4C>T | ||
| ENST00000645591.1:n.2501+4C>T | ||
| ENST00000646388.1:c.1443+4C>T | ENSP00000495921.1:n.1443+4C>T | |
| ENST00000646634.1:n.456+4C>T | ||
| ENST00000647234.1:n.3201+4C>T | ||
| ENST00000647242.1:n.2079+4C>T | ||
| ENST00000219476.7:c.1443+4C>T | ENSP00000219476.3:n.1443+4C>T | |
| ENST00000350773.8:c.1443+4C>T | ENSP00000344383.4:n.1443+4C>T | |
| ENST00000382538.10:c.1296+4C>T | ENSP00000371978.6:n.1296+4C>T | |
| ENST00000401874.6:c.1443+4C>T | ENSP00000384468.2:n.1443+4C>T | |
| ENST00000439117.6:c.*742+4C>T | ENSP00000406980.2:n.*742+4C>T | |
| ENST00000439673.6:c.1332+4C>T | ENSP00000399232.2:n.1332+4C>T | |
| ENST00000490108.1:n.216+4C>T | ||
| ENST00000568454.5:c.1476+4C>T | ENSP00000454487.1:n.1476+4C>T | |
| ENST00000568566.5:c.83+457C>T | ENSP00000455997.1:n.83+457C>T | |
| NM_000548.3:c.1443+4C>T , LRG_487t1:c.1443+4C>T | NP_000539.2:n.1443+4C>T | |
| NM_001077183.1:c.1443+4C>T | NP_001070651.1:n.1443+4C>T | |
| NM_001114382.1:c.1443+4C>T | NP_001107854.1:n.1443+4C>T | |
| XM_005255529.3:c.1443+4C>T | XP_005255586.2:n.1443+4C>T | |
| XM_005255531.3:c.1443+4C>T | XP_005255588.2:n.1443+4C>T | |
| XM_011522636.1:c.1443+4C>T | XP_011520938.1:n.1443+4C>T | |
| XM_011522637.1:c.1443+4C>T | XP_011520939.1:n.1443+4C>T | |
| XM_011522638.1:c.1332+4C>T | XP_011520940.1:n.1332+4C>T | |
| XM_011522639.1:c.1443+4C>T | XP_011520941.1:n.1443+4C>T | |
| XM_011522640.1:c.1443+4C>T | XP_011520942.1:n.1443+4C>T | |
| XM_011522641.1:c.1332+4C>T | XP_011520943.1:n.1332+4C>T | |
| NM_000548.4:c.1443+4C>T | NP_000539.2:n.1443+4C>T | |
| NM_001077183.2:c.1443+4C>T | NP_001070651.1:n.1443+4C>T | |
| NM_001114382.2:c.1443+4C>T | NP_001107854.1:n.1443+4C>T | |
| NM_001318827.1:c.1332+4C>T | NP_001305756.1:n.1332+4C>T | |
| NM_001318829.1:c.1296+4C>T | NP_001305758.1:n.1296+4C>T | |
| NM_001318831.1:c.843+4C>T | NP_001305760.1:n.843+4C>T | |
| NM_001318832.1:c.1476+4C>T | NP_001305761.1:n.1476+4C>T | |
| NM_001363528.1:c.1443+4C>T | NP_001350457.1:n.1443+4C>T | |
| NM_021055.2:c.1443+4C>T | NP_066399.2:n.1443+4C>T | |
| XM_005255531.4:c.1443+4C>T | XP_005255588.2:n.1443+4C>T | |
| XM_011522636.2:c.1443+4C>T | XP_011520938.1:n.1443+4C>T | |
| XM_011522637.2:c.1443+4C>T | XP_011520939.1:n.1443+4C>T | |
| XM_011522638.2:c.1605+4C>T | XP_011520940.2:n.1605+4C>T | |
| XM_011522639.2:c.1443+4C>T | XP_011520941.1:n.1443+4C>T | |
| XM_011522640.2:c.1443+4C>T | XP_011520942.1:n.1443+4C>T | |
| XM_017023615.1:c.1443+4C>T | XP_016879104.1:n.1443+4C>T | |
| XM_017023616.1:c.1443+4C>T | XP_016879105.1:n.1443+4C>T | |
| XM_017023617.1:c.1605+4C>T | XP_016879106.1:n.1605+4C>T | |
| XM_017023618.1:c.99+4C>T | XP_016879107.1:n.99+4C>T | |
| XM_024450413.1:c.1443+4C>T | XP_024306181.1:n.1443+4C>T | |
| NM_000548.5:c.1443+4C>T MANE Select | NP_000539.2:n.1443+4C>T | |
| NM_001370404.1:c.1443+4C>T | NP_001357333.1:n.1443+4C>T | |
| NM_001370405.1:c.1443+4C>T | NP_001357334.1:n.1443+4C>T | |
| NM_001077183.3:c.1443+4C>T | NP_001070651.1:n.1443+4C>T | |
| NM_001114382.3:c.1443+4C>T | NP_001107854.1:n.1443+4C>T | |
| NM_001318827.2:c.1332+4C>T | NP_001305756.1:n.1332+4C>T | |
| NM_001318829.2:c.1296+4C>T | NP_001305758.1:n.1296+4C>T | |
| NM_001318831.2:c.843+4C>T | NP_001305760.1:n.843+4C>T | |
| NM_001318832.2:c.1476+4C>T | NP_001305761.1:n.1476+4C>T | |
| NM_001363528.2:c.1443+4C>T | NP_001350457.1:n.1443+4C>T | |
| NM_021055.3:c.1443+4C>T | NP_066399.2:n.1443+4C>T |