Linked Data
ClinVar Variation Id:
207690
dbSNP Id:
rs757221445
ExAC:
16:2137872 C / A
gnomAD v2:
16-2137872-C-A
gnomAD v3:
16-2087871-C-A
gnomAD v4:
16-2087871-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2087871C>A , CM000678.2:g.2087871C>A | GRCh38 |
| NC_000016.9:g.2137872C>A , CM000678.1:g.2137872C>A | GRCh37 |
| NC_000016.8:g.2077873C>A | NCBI36 |
| NG_005895.1:g.43566C>A , LRG_487:g.43566C>A | |
| NG_008617.1:g.55350G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3347C>A | ENSP00000455997.2:n.*3347C>A | |
| ENST00000642206.2:c.4845C>A | ENSP00000495146.2:p.Phe1615Leu | |
| ENST00000642365.2:c.4995C>A | ENSP00000495459.2:p.Phe1665Leu | |
| ENST00000644417.2:c.*5511C>A | ENSP00000493912.2:n.*5511C>A | |
| ENST00000646464.2:c.*7747C>A | ENSP00000496610.2:n.*7747C>A | |
| ENST00000219476.9:c.4998C>A MANE Select | ENSP00000219476.3:p.Phe1666Leu | |
| ENST00000350773.9:c.4929C>A | ENSP00000344383.4:p.Phe1643Leu | |
| ENST00000401874.7:c.4797C>A | ENSP00000384468.2:p.Phe1599Leu | |
| ENST00000568454.6:c.4830C>A | ENSP00000454487.1:p.Phe1610Leu | |
| ENST00000569110.2:c.1221C>A | ||
| ENST00000569930.2:n.2880C>A | ||
| ENST00000642365.1:c.3652C>A | ||
| ENST00000642561.1:c.4869C>A | ENSP00000495099.1:p.Phe1623Leu | |
| ENST00000642791.1:n.595C>A | ||
| ENST00000642797.1:c.4800C>A | ENSP00000493846.1:p.Phe1600Leu | |
| ENST00000642936.1:c.4866C>A | ENSP00000494514.1:p.Phe1622Leu | |
| ENST00000643088.1:c.4791C>A | ENSP00000494747.1:p.Phe1597Leu | |
| ENST00000643177.1:n.1012C>A | ||
| ENST00000643426.1:n.2646C>A | ||
| ENST00000643946.1:c.4923C>A | ENSP00000495927.1:p.Phe1641Leu | |
| ENST00000644043.1:c.4869C>A | ENSP00000496262.1:p.Phe1623Leu | |
| ENST00000644278.1:n.480C>A | ||
| ENST00000644329.1:c.4797C>A | ENSP00000496611.1:p.Phe1599Leu | |
| ENST00000644335.1:c.4794C>A | ENSP00000496317.1:p.Phe1598Leu | |
| ENST00000644399.1:c.4919C>A | ||
| ENST00000645024.1:n.3082C>A | ||
| ENST00000646388.1:c.4992C>A | ENSP00000495921.1:p.Phe1664Leu | |
| ENST00000646634.1:n.3813C>A | ||
| ENST00000646674.1:n.2250C>A | ||
| ENST00000647042.1:n.2221C>A | ||
| ENST00000647180.1:n.2111C>A | ||
| ENST00000219476.7:c.4998C>A | ENSP00000219476.3:p.Phe1666Leu | |
| ENST00000350773.8:c.4929C>A | ENSP00000344383.4:p.Phe1643Leu | |
| ENST00000382538.10:c.4653C>A | ENSP00000371978.6:p.Phe1551Leu | |
| ENST00000401874.6:c.4797C>A | ENSP00000384468.2:p.Phe1599Leu | |
| ENST00000439117.6:c.*4165C>A | ENSP00000406980.2:n.*4165C>A | |
| ENST00000439673.6:c.4689C>A | ENSP00000399232.2:p.Phe1563Leu | |
| ENST00000497886.5:n.2721C>A | ||
| ENST00000568454.5:c.4830C>A | ENSP00000454487.1:p.Phe1610Leu | |
| ENST00000569110.1:c.1180C>A | ||
| ENST00000569930.1:n.2113C>A | ||
| NM_000548.3:c.4998C>A , LRG_487t1:c.4998C>A | NP_000539.2:p.Phe1666Leu | |
| NM_001077183.1:c.4797C>A | NP_001070651.1:p.Phe1599Leu | |
| NM_001114382.1:c.4929C>A | NP_001107854.1:p.Phe1643Leu | |
| XM_005255529.3:c.4869C>A | XP_005255586.2:p.Phe1623Leu | |
| XM_005255531.3:c.4800C>A | XP_005255588.2:p.Phe1600Leu | |
| XM_011522636.1:c.5052C>A | XP_011520938.1:p.Phe1684Leu | |
| XM_011522637.1:c.5049C>A | XP_011520939.1:p.Phe1683Leu | |
| XM_011522638.1:c.4941C>A | XP_011520940.1:p.Phe1647Leu | |
| XM_011522639.1:c.4923C>A | XP_011520941.1:p.Phe1641Leu | |
| XM_011522640.1:c.4920C>A | XP_011520942.1:p.Phe1640Leu | |
| XM_011522641.1:c.4689C>A | XP_011520943.1:p.Phe1563Leu | |
| NM_000548.4:c.4998C>A | NP_000539.2:p.Phe1666Leu | |
| NM_001077183.2:c.4797C>A | NP_001070651.1:p.Phe1599Leu | |
| NM_001114382.2:c.4929C>A | NP_001107854.1:p.Phe1643Leu | |
| NM_001318827.1:c.4689C>A | NP_001305756.1:p.Phe1563Leu | |
| NM_001318829.1:c.4653C>A | NP_001305758.1:p.Phe1551Leu | |
| NM_001318831.1:c.4266C>A | NP_001305760.1:p.Phe1422Leu | |
| NM_001318832.1:c.4830C>A | NP_001305761.1:p.Phe1610Leu | |
| NM_001363528.1:c.4800C>A | NP_001350457.1:p.Phe1600Leu | |
| NM_021055.2:c.4869C>A | NP_066399.2:p.Phe1623Leu | |
| XM_005255531.4:c.4800C>A | XP_005255588.2:p.Phe1600Leu | |
| XM_011522636.2:c.5052C>A | XP_011520938.1:p.Phe1684Leu | |
| XM_011522637.2:c.5049C>A | XP_011520939.1:p.Phe1683Leu | |
| XM_011522638.2:c.5214C>A | XP_011520940.2:p.Phe1738Leu | |
| XM_011522639.2:c.4923C>A | XP_011520941.1:p.Phe1641Leu | |
| XM_011522640.2:c.4920C>A | XP_011520942.1:p.Phe1640Leu | |
| XM_017023615.1:c.4995C>A | XP_016879104.1:p.Phe1665Leu | |
| XM_017023616.1:c.4866C>A | XP_016879105.1:p.Phe1622Leu | |
| XM_017023617.1:c.4962C>A | XP_016879106.1:p.Phe1654Leu | |
| XM_017023618.1:c.3708C>A | XP_016879107.1:p.Phe1236Leu | |
| XM_024450413.1:c.4797C>A | XP_024306181.1:p.Phe1599Leu | |
| NM_000548.5:c.4998C>A MANE Select | NP_000539.2:p.Phe1666Leu | |
| NM_001370404.1:c.4866C>A | NP_001357333.1:p.Phe1622Leu | |
| NM_001370405.1:c.4869C>A | NP_001357334.1:p.Phe1623Leu | |
| NM_001077183.3:c.4797C>A | NP_001070651.1:p.Phe1599Leu | |
| NM_001114382.3:c.4929C>A | NP_001107854.1:p.Phe1643Leu | |
| NM_001318827.2:c.4689C>A | NP_001305756.1:p.Phe1563Leu | |
| NM_001318829.2:c.4653C>A | NP_001305758.1:p.Phe1551Leu | |
| NM_001318831.2:c.4266C>A | NP_001305760.1:p.Phe1422Leu | |
| NM_001318832.2:c.4830C>A | NP_001305761.1:p.Phe1610Leu | |
| NM_001363528.2:c.4800C>A | NP_001350457.1:p.Phe1600Leu | |
| NM_021055.3:c.4869C>A | NP_066399.2:p.Phe1623Leu |