Linked Data
ClinVar Variation Id:
207696
dbSNP Id:
rs796053479
gnomAD v3:
16-2088575-A-C
gnomAD v4:
16-2088575-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088575A>C , CM000678.2:g.2088575A>C | GRCh38 |
| NC_000016.9:g.2138576A>C , CM000678.1:g.2138576A>C | GRCh37 |
| NC_000016.8:g.2078577A>C | NCBI36 |
| NG_005895.1:g.44270A>C , LRG_487:g.44270A>C | |
| NG_008617.1:g.54646T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3738A>C | ENSP00000455997.2:n.*3738A>C | |
| ENST00000642206.2:c.5236A>C | ENSP00000495146.2:p.Ile1746Leu | |
| ENST00000642365.2:c.5386A>C | ENSP00000495459.2:p.Ile1796Leu | |
| ENST00000644417.2:c.*5902A>C | ENSP00000493912.2:n.*5902A>C | |
| ENST00000646464.2:c.*8138A>C | ENSP00000496610.2:n.*8138A>C | |
| ENST00000219476.9:c.5389A>C MANE Select | ENSP00000219476.3:p.Ile1797Leu | |
| ENST00000350773.9:c.5320A>C | ENSP00000344383.4:p.Ile1774Leu | |
| ENST00000401874.7:c.5188A>C | ENSP00000384468.2:p.Ile1730Leu | |
| ENST00000568454.6:c.5221A>C | ENSP00000454487.1:p.Ile1741Leu | |
| ENST00000569110.2:c.1612A>C | ||
| ENST00000569930.2:n.3271A>C | ||
| ENST00000642365.1:c.4043A>C | ||
| ENST00000642561.1:c.5248A>C | ENSP00000495099.1:p.Ile1750Leu | |
| ENST00000642791.1:n.986A>C | ||
| ENST00000642797.1:c.5191A>C | ENSP00000493846.1:p.Ile1731Leu | |
| ENST00000642936.1:c.5257A>C | ENSP00000494514.1:p.Ile1753Leu | |
| ENST00000643088.1:c.5182A>C | ENSP00000494747.1:p.Ile1728Leu | |
| ENST00000643426.1:n.3037A>C | ||
| ENST00000643946.1:c.5314A>C | ENSP00000495927.1:p.Ile1772Leu | |
| ENST00000644043.1:c.5260A>C | ENSP00000496262.1:p.Ile1754Leu | |
| ENST00000644329.1:c.5275A>C | ENSP00000496611.1:p.Ile1759Leu | |
| ENST00000644335.1:c.5185A>C | ENSP00000496317.1:p.Ile1729Leu | |
| ENST00000644399.1:c.5310A>C | ||
| ENST00000645024.1:n.3473A>C | ||
| ENST00000646388.1:c.5383A>C | ENSP00000495921.1:p.Ile1795Leu | |
| ENST00000646634.1:n.4204A>C | ||
| ENST00000646674.1:n.2641A>C | ||
| ENST00000647042.1:n.2612A>C | ||
| ENST00000647180.1:n.2502A>C | ||
| ENST00000219476.7:c.5389A>C | ENSP00000219476.3:p.Ile1797Leu | |
| ENST00000350773.8:c.5320A>C | ENSP00000344383.4:p.Ile1774Leu | |
| ENST00000382538.10:c.5044A>C | ENSP00000371978.6:p.Ile1682Leu | |
| ENST00000401874.6:c.5188A>C | ENSP00000384468.2:p.Ile1730Leu | |
| ENST00000439117.6:c.*4556A>C | ENSP00000406980.2:n.*4556A>C | |
| ENST00000439673.6:c.5080A>C | ENSP00000399232.2:p.Ile1694Leu | |
| ENST00000497886.5:n.3112A>C | ||
| ENST00000568454.5:c.5221A>C | ENSP00000454487.1:p.Ile1741Leu | |
| ENST00000569110.1:c.1571A>C | ||
| ENST00000569930.1:n.2504A>C | ||
| NM_000548.3:c.5389A>C , LRG_487t1:c.5389A>C | NP_000539.2:p.Ile1797Leu | |
| NM_001077183.1:c.5188A>C | NP_001070651.1:p.Ile1730Leu | |
| NM_001114382.1:c.5320A>C | NP_001107854.1:p.Ile1774Leu | |
| XM_005255529.3:c.5260A>C | XP_005255586.2:p.Ile1754Leu | |
| XM_005255531.3:c.5191A>C | XP_005255588.2:p.Ile1731Leu | |
| XM_011522636.1:c.5443A>C | XP_011520938.1:p.Ile1815Leu | |
| XM_011522637.1:c.5440A>C | XP_011520939.1:p.Ile1814Leu | |
| XM_011522638.1:c.5332A>C | XP_011520940.1:p.Ile1778Leu | |
| XM_011522639.1:c.5314A>C | XP_011520941.1:p.Ile1772Leu | |
| XM_011522640.1:c.5311A>C | XP_011520942.1:p.Ile1771Leu | |
| XM_011522641.1:c.5080A>C | XP_011520943.1:p.Ile1694Leu | |
| NM_000548.4:c.5389A>C | NP_000539.2:p.Ile1797Leu | |
| NM_001077183.2:c.5188A>C | NP_001070651.1:p.Ile1730Leu | |
| NM_001114382.2:c.5320A>C | NP_001107854.1:p.Ile1774Leu | |
| NM_001318827.1:c.5080A>C | NP_001305756.1:p.Ile1694Leu | |
| NM_001318829.1:c.5044A>C | NP_001305758.1:p.Ile1682Leu | |
| NM_001318831.1:c.4657A>C | NP_001305760.1:p.Ile1553Leu | |
| NM_001318832.1:c.5221A>C | NP_001305761.1:p.Ile1741Leu | |
| NM_001363528.1:c.5191A>C | NP_001350457.1:p.Ile1731Leu | |
| NM_021055.2:c.5260A>C | NP_066399.2:p.Ile1754Leu | |
| XM_005255531.4:c.5191A>C | XP_005255588.2:p.Ile1731Leu | |
| XM_011522636.2:c.5443A>C | XP_011520938.1:p.Ile1815Leu | |
| XM_011522637.2:c.5440A>C | XP_011520939.1:p.Ile1814Leu | |
| XM_011522638.2:c.5605A>C | XP_011520940.2:p.Ile1869Leu | |
| XM_011522639.2:c.5314A>C | XP_011520941.1:p.Ile1772Leu | |
| XM_011522640.2:c.5311A>C | XP_011520942.1:p.Ile1771Leu | |
| XM_017023615.1:c.5386A>C | XP_016879104.1:p.Ile1796Leu | |
| XM_017023616.1:c.5257A>C | XP_016879105.1:p.Ile1753Leu | |
| XM_017023617.1:c.5353A>C | XP_016879106.1:p.Ile1785Leu | |
| XM_017023618.1:c.4099A>C | XP_016879107.1:p.Ile1367Leu | |
| XM_024450413.1:c.5275A>C | XP_024306181.1:p.Ile1759Leu | |
| NM_000548.5:c.5389A>C MANE Select | NP_000539.2:p.Ile1797Leu | |
| NM_001370404.1:c.5257A>C | NP_001357333.1:p.Ile1753Leu | |
| NM_001370405.1:c.5248A>C | NP_001357334.1:p.Ile1750Leu | |
| NM_001077183.3:c.5188A>C | NP_001070651.1:p.Ile1730Leu | |
| NM_001114382.3:c.5320A>C | NP_001107854.1:p.Ile1774Leu | |
| NM_001318827.2:c.5080A>C | NP_001305756.1:p.Ile1694Leu | |
| NM_001318829.2:c.5044A>C | NP_001305758.1:p.Ile1682Leu | |
| NM_001318831.2:c.4657A>C | NP_001305760.1:p.Ile1553Leu | |
| NM_001318832.2:c.5221A>C | NP_001305761.1:p.Ile1741Leu | |
| NM_001363528.2:c.5191A>C | NP_001350457.1:p.Ile1731Leu | |
| NM_021055.3:c.5260A>C | NP_066399.2:p.Ile1754Leu |