Linked Data
ClinVar Variation Id:
468161
dbSNP Id:
rs989487316
gnomAD v3:
16-2088524-A-C
gnomAD v4:
16-2088524-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088524A>C , CM000678.2:g.2088524A>C | GRCh38 |
| NC_000016.9:g.2138525A>C , CM000678.1:g.2138525A>C | GRCh37 |
| NC_000016.8:g.2078526A>C | NCBI36 |
| NG_005895.1:g.44219A>C , LRG_487:g.44219A>C | |
| NG_008617.1:g.54697T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3687A>C | ENSP00000455997.2:n.*3687A>C | |
| ENST00000642206.2:c.5185A>C | ENSP00000495146.2:p.Thr1729Pro | |
| ENST00000642365.2:c.5335A>C | ENSP00000495459.2:p.Thr1779Pro | |
| ENST00000644417.2:c.*5851A>C | ENSP00000493912.2:n.*5851A>C | |
| ENST00000646464.2:c.*8087A>C | ENSP00000496610.2:n.*8087A>C | |
| ENST00000219476.9:c.5338A>C MANE Select | ENSP00000219476.3:p.Thr1780Pro | |
| ENST00000350773.9:c.5269A>C | ENSP00000344383.4:p.Thr1757Pro | |
| ENST00000401874.7:c.5137A>C | ENSP00000384468.2:p.Thr1713Pro | |
| ENST00000568454.6:c.5170A>C | ENSP00000454487.1:p.Thr1724Pro | |
| ENST00000569110.2:c.1561A>C | ||
| ENST00000569930.2:n.3220A>C | ||
| ENST00000642365.1:c.3992A>C | ||
| ENST00000642561.1:c.5197A>C | ENSP00000495099.1:p.Thr1733Pro | |
| ENST00000642791.1:n.935A>C | ||
| ENST00000642797.1:c.5140A>C | ENSP00000493846.1:p.Thr1714Pro | |
| ENST00000642936.1:c.5206A>C | ENSP00000494514.1:p.Thr1736Pro | |
| ENST00000643088.1:c.5131A>C | ENSP00000494747.1:p.Thr1711Pro | |
| ENST00000643426.1:n.2986A>C | ||
| ENST00000643946.1:c.5263A>C | ENSP00000495927.1:p.Thr1755Pro | |
| ENST00000644043.1:c.5209A>C | ENSP00000496262.1:p.Thr1737Pro | |
| ENST00000644329.1:c.5224A>C | ENSP00000496611.1:p.Thr1742Pro | |
| ENST00000644335.1:c.5134A>C | ENSP00000496317.1:p.Thr1712Pro | |
| ENST00000644399.1:c.5259A>C | ||
| ENST00000645024.1:n.3422A>C | ||
| ENST00000646388.1:c.5332A>C | ENSP00000495921.1:p.Thr1778Pro | |
| ENST00000646634.1:n.4153A>C | ||
| ENST00000646674.1:n.2590A>C | ||
| ENST00000647042.1:n.2561A>C | ||
| ENST00000647180.1:n.2451A>C | ||
| ENST00000219476.7:c.5338A>C | ENSP00000219476.3:p.Thr1780Pro | |
| ENST00000350773.8:c.5269A>C | ENSP00000344383.4:p.Thr1757Pro | |
| ENST00000382538.10:c.4993A>C | ENSP00000371978.6:p.Thr1665Pro | |
| ENST00000401874.6:c.5137A>C | ENSP00000384468.2:p.Thr1713Pro | |
| ENST00000439117.6:c.*4505A>C | ENSP00000406980.2:n.*4505A>C | |
| ENST00000439673.6:c.5029A>C | ENSP00000399232.2:p.Thr1677Pro | |
| ENST00000497886.5:n.3061A>C | ||
| ENST00000568454.5:c.5170A>C | ENSP00000454487.1:p.Thr1724Pro | |
| ENST00000569110.1:c.1520A>C | ||
| ENST00000569930.1:n.2453A>C | ||
| NM_000548.3:c.5338A>C , LRG_487t1:c.5338A>C | NP_000539.2:p.Thr1780Pro | |
| NM_001077183.1:c.5137A>C | NP_001070651.1:p.Thr1713Pro | |
| NM_001114382.1:c.5269A>C | NP_001107854.1:p.Thr1757Pro | |
| XM_005255529.3:c.5209A>C | XP_005255586.2:p.Thr1737Pro | |
| XM_005255531.3:c.5140A>C | XP_005255588.2:p.Thr1714Pro | |
| XM_011522636.1:c.5392A>C | XP_011520938.1:p.Thr1798Pro | |
| XM_011522637.1:c.5389A>C | XP_011520939.1:p.Thr1797Pro | |
| XM_011522638.1:c.5281A>C | XP_011520940.1:p.Thr1761Pro | |
| XM_011522639.1:c.5263A>C | XP_011520941.1:p.Thr1755Pro | |
| XM_011522640.1:c.5260A>C | XP_011520942.1:p.Thr1754Pro | |
| XM_011522641.1:c.5029A>C | XP_011520943.1:p.Thr1677Pro | |
| NM_000548.4:c.5338A>C | NP_000539.2:p.Thr1780Pro | |
| NM_001077183.2:c.5137A>C | NP_001070651.1:p.Thr1713Pro | |
| NM_001114382.2:c.5269A>C | NP_001107854.1:p.Thr1757Pro | |
| NM_001318827.1:c.5029A>C | NP_001305756.1:p.Thr1677Pro | |
| NM_001318829.1:c.4993A>C | NP_001305758.1:p.Thr1665Pro | |
| NM_001318831.1:c.4606A>C | NP_001305760.1:p.Thr1536Pro | |
| NM_001318832.1:c.5170A>C | NP_001305761.1:p.Thr1724Pro | |
| NM_001363528.1:c.5140A>C | NP_001350457.1:p.Thr1714Pro | |
| NM_021055.2:c.5209A>C | NP_066399.2:p.Thr1737Pro | |
| XM_005255531.4:c.5140A>C | XP_005255588.2:p.Thr1714Pro | |
| XM_011522636.2:c.5392A>C | XP_011520938.1:p.Thr1798Pro | |
| XM_011522637.2:c.5389A>C | XP_011520939.1:p.Thr1797Pro | |
| XM_011522638.2:c.5554A>C | XP_011520940.2:p.Thr1852Pro | |
| XM_011522639.2:c.5263A>C | XP_011520941.1:p.Thr1755Pro | |
| XM_011522640.2:c.5260A>C | XP_011520942.1:p.Thr1754Pro | |
| XM_017023615.1:c.5335A>C | XP_016879104.1:p.Thr1779Pro | |
| XM_017023616.1:c.5206A>C | XP_016879105.1:p.Thr1736Pro | |
| XM_017023617.1:c.5302A>C | XP_016879106.1:p.Thr1768Pro | |
| XM_017023618.1:c.4048A>C | XP_016879107.1:p.Thr1350Pro | |
| XM_024450413.1:c.5224A>C | XP_024306181.1:p.Thr1742Pro | |
| NM_000548.5:c.5338A>C MANE Select | NP_000539.2:p.Thr1780Pro | |
| NM_001370404.1:c.5206A>C | NP_001357333.1:p.Thr1736Pro | |
| NM_001370405.1:c.5197A>C | NP_001357334.1:p.Thr1733Pro | |
| NM_001077183.3:c.5137A>C | NP_001070651.1:p.Thr1713Pro | |
| NM_001114382.3:c.5269A>C | NP_001107854.1:p.Thr1757Pro | |
| NM_001318827.2:c.5029A>C | NP_001305756.1:p.Thr1677Pro | |
| NM_001318829.2:c.4993A>C | NP_001305758.1:p.Thr1665Pro | |
| NM_001318831.2:c.4606A>C | NP_001305760.1:p.Thr1536Pro | |
| NM_001318832.2:c.5170A>C | NP_001305761.1:p.Thr1724Pro | |
| NM_001363528.2:c.5140A>C | NP_001350457.1:p.Thr1714Pro | |
| NM_021055.3:c.5209A>C | NP_066399.2:p.Thr1737Pro |