Linked Data
ClinVar Variation Id:
405942
dbSNP Id:
rs1060500910
gnomAD v2:
16-2138603-T-C
gnomAD v4:
16-2088602-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088602T>C , CM000678.2:g.2088602T>C | GRCh38 |
| NC_000016.9:g.2138603T>C , CM000678.1:g.2138603T>C | GRCh37 |
| NC_000016.8:g.2078604T>C | NCBI36 |
| NG_005895.1:g.44297T>C , LRG_487:g.44297T>C | |
| NG_008617.1:g.54619A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3765T>C | ENSP00000455997.2:n.*3765T>C | |
| ENST00000642206.2:c.5263T>C | ENSP00000495146.2:p.Phe1755Leu | |
| ENST00000642365.2:c.5413T>C | ENSP00000495459.2:p.Phe1805Leu | |
| ENST00000644417.2:c.*5929T>C | ENSP00000493912.2:n.*5929T>C | |
| ENST00000646464.2:c.*8165T>C | ENSP00000496610.2:n.*8165T>C | |
| ENST00000219476.9:c.5416T>C MANE Select | ENSP00000219476.3:p.Phe1806Leu | |
| ENST00000350773.9:c.5347T>C | ENSP00000344383.4:p.Phe1783Leu | |
| ENST00000401874.7:c.5215T>C | ENSP00000384468.2:p.Phe1739Leu | |
| ENST00000568454.6:c.5248T>C | ENSP00000454487.1:p.Phe1750Leu | |
| ENST00000569110.2:c.1639T>C | ||
| ENST00000569930.2:n.3298T>C | ||
| ENST00000642365.1:c.4070T>C | ||
| ENST00000642561.1:c.5275T>C | ENSP00000495099.1:p.Phe1759Leu | |
| ENST00000642791.1:n.1013T>C | ||
| ENST00000642797.1:c.5218T>C | ENSP00000493846.1:p.Phe1740Leu | |
| ENST00000642936.1:c.5284T>C | ENSP00000494514.1:p.Phe1762Leu | |
| ENST00000643088.1:c.5209T>C | ENSP00000494747.1:p.Phe1737Leu | |
| ENST00000643426.1:n.3064T>C | ||
| ENST00000643946.1:c.5341T>C | ENSP00000495927.1:p.Phe1781Leu | |
| ENST00000644043.1:c.5287T>C | ENSP00000496262.1:p.Phe1763Leu | |
| ENST00000644329.1:c.5302T>C | ENSP00000496611.1:p.Phe1768Leu | |
| ENST00000644335.1:c.5212T>C | ENSP00000496317.1:p.Phe1738Leu | |
| ENST00000644399.1:c.5337T>C | ||
| ENST00000646388.1:c.5410T>C | ENSP00000495921.1:p.Phe1804Leu | |
| ENST00000646634.1:n.4231T>C | ||
| ENST00000646674.1:n.2668T>C | ||
| ENST00000647042.1:n.2639T>C | ||
| ENST00000647180.1:n.2529T>C | ||
| ENST00000219476.7:c.5416T>C | ENSP00000219476.3:p.Phe1806Leu | |
| ENST00000350773.8:c.5347T>C | ENSP00000344383.4:p.Phe1783Leu | |
| ENST00000382538.10:c.5071T>C | ENSP00000371978.6:p.Phe1691Leu | |
| ENST00000401874.6:c.5215T>C | ENSP00000384468.2:p.Phe1739Leu | |
| ENST00000439117.6:c.*4583T>C | ENSP00000406980.2:n.*4583T>C | |
| ENST00000439673.6:c.5107T>C | ENSP00000399232.2:p.Phe1703Leu | |
| ENST00000497886.5:n.3139T>C | ||
| ENST00000568454.5:c.5248T>C | ENSP00000454487.1:p.Phe1750Leu | |
| ENST00000569110.1:c.1598T>C | ||
| ENST00000569930.1:n.2531T>C | ||
| NM_000548.3:c.5416T>C , LRG_487t1:c.5416T>C | NP_000539.2:p.Phe1806Leu | |
| NM_001077183.1:c.5215T>C | NP_001070651.1:p.Phe1739Leu | |
| NM_001114382.1:c.5347T>C | NP_001107854.1:p.Phe1783Leu | |
| XM_005255529.3:c.5287T>C | XP_005255586.2:p.Phe1763Leu | |
| XM_005255531.3:c.5218T>C | XP_005255588.2:p.Phe1740Leu | |
| XM_011522636.1:c.5470T>C | XP_011520938.1:p.Phe1824Leu | |
| XM_011522637.1:c.5467T>C | XP_011520939.1:p.Phe1823Leu | |
| XM_011522638.1:c.5359T>C | XP_011520940.1:p.Phe1787Leu | |
| XM_011522639.1:c.5341T>C | XP_011520941.1:p.Phe1781Leu | |
| XM_011522640.1:c.5338T>C | XP_011520942.1:p.Phe1780Leu | |
| XM_011522641.1:c.5107T>C | XP_011520943.1:p.Phe1703Leu | |
| NM_000548.4:c.5416T>C | NP_000539.2:p.Phe1806Leu | |
| NM_001077183.2:c.5215T>C | NP_001070651.1:p.Phe1739Leu | |
| NM_001114382.2:c.5347T>C | NP_001107854.1:p.Phe1783Leu | |
| NM_001318827.1:c.5107T>C | NP_001305756.1:p.Phe1703Leu | |
| NM_001318829.1:c.5071T>C | NP_001305758.1:p.Phe1691Leu | |
| NM_001318831.1:c.4684T>C | NP_001305760.1:p.Phe1562Leu | |
| NM_001318832.1:c.5248T>C | NP_001305761.1:p.Phe1750Leu | |
| NM_001363528.1:c.5218T>C | NP_001350457.1:p.Phe1740Leu | |
| NM_021055.2:c.5287T>C | NP_066399.2:p.Phe1763Leu | |
| XM_005255531.4:c.5218T>C | XP_005255588.2:p.Phe1740Leu | |
| XM_011522636.2:c.5470T>C | XP_011520938.1:p.Phe1824Leu | |
| XM_011522637.2:c.5467T>C | XP_011520939.1:p.Phe1823Leu | |
| XM_011522638.2:c.5632T>C | XP_011520940.2:p.Phe1878Leu | |
| XM_011522639.2:c.5341T>C | XP_011520941.1:p.Phe1781Leu | |
| XM_011522640.2:c.5338T>C | XP_011520942.1:p.Phe1780Leu | |
| XM_017023615.1:c.5413T>C | XP_016879104.1:p.Phe1805Leu | |
| XM_017023616.1:c.5284T>C | XP_016879105.1:p.Phe1762Leu | |
| XM_017023617.1:c.5380T>C | XP_016879106.1:p.Phe1794Leu | |
| XM_017023618.1:c.4126T>C | XP_016879107.1:p.Phe1376Leu | |
| XM_024450413.1:c.5302T>C | XP_024306181.1:p.Phe1768Leu | |
| NM_000548.5:c.5416T>C MANE Select | NP_000539.2:p.Phe1806Leu | |
| NM_001370404.1:c.5284T>C | NP_001357333.1:p.Phe1762Leu | |
| NM_001370405.1:c.5275T>C | NP_001357334.1:p.Phe1759Leu | |
| NM_001077183.3:c.5215T>C | NP_001070651.1:p.Phe1739Leu | |
| NM_001114382.3:c.5347T>C | NP_001107854.1:p.Phe1783Leu | |
| NM_001318827.2:c.5107T>C | NP_001305756.1:p.Phe1703Leu | |
| NM_001318829.2:c.5071T>C | NP_001305758.1:p.Phe1691Leu | |
| NM_001318831.2:c.4684T>C | NP_001305760.1:p.Phe1562Leu | |
| NM_001318832.2:c.5248T>C | NP_001305761.1:p.Phe1750Leu | |
| NM_001363528.2:c.5218T>C | NP_001350457.1:p.Phe1740Leu | |
| NM_021055.3:c.5287T>C | NP_066399.2:p.Phe1763Leu |