Linked Data
dbSNP Id:
rs397514942
ExAC:
16:2135315 G / A
gnomAD v2:
16-2135315-G-A
gnomAD v4:
16-2085314-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085314G>A , CM000678.2:g.2085314G>A | GRCh38 |
| NC_000016.9:g.2135315G>A , CM000678.1:g.2135315G>A | GRCh37 |
| NC_000016.8:g.2075316G>A | NCBI36 |
| NG_005895.1:g.41009G>A , LRG_487:g.41009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3003G>A | ENSP00000455997.2:n.*3003G>A | |
| ENST00000642206.2:c.4501G>A | ENSP00000495146.2:p.Glu1501Lys | |
| ENST00000642365.2:c.4651G>A | ENSP00000495459.2:p.Glu1551Lys | |
| ENST00000644417.2:c.*5034G>A | ENSP00000493912.2:n.*5034G>A | |
| ENST00000646464.2:c.*7403G>A | ENSP00000496610.2:n.*7403G>A | |
| ENST00000219476.9:c.4654G>A MANE Select | ENSP00000219476.3:p.Glu1552Lys | |
| ENST00000350773.9:c.4585G>A | ENSP00000344383.4:p.Glu1529Lys | |
| ENST00000401874.7:c.4453G>A | ENSP00000384468.2:p.Glu1485Lys | |
| ENST00000568454.6:c.4486G>A | ENSP00000454487.1:p.Glu1496Lys | |
| ENST00000569110.2:c.877G>A | ||
| ENST00000569930.2:n.2536G>A | ||
| ENST00000642365.1:c.3308G>A | ||
| ENST00000642561.1:c.4525G>A | ENSP00000495099.1:p.Glu1509Lys | |
| ENST00000642728.1:n.836G>A | ||
| ENST00000642791.1:n.251G>A | ||
| ENST00000642797.1:c.4456G>A | ENSP00000493846.1:p.Glu1486Lys | |
| ENST00000642936.1:c.4522G>A | ENSP00000494514.1:p.Glu1508Lys | |
| ENST00000643088.1:c.4447G>A | ENSP00000494747.1:p.Glu1483Lys | |
| ENST00000643177.1:n.668G>A | ||
| ENST00000643426.1:n.2302G>A | ||
| ENST00000643946.1:c.4579G>A | ENSP00000495927.1:p.Glu1527Lys | |
| ENST00000644043.1:c.4525G>A | ENSP00000496262.1:p.Glu1509Lys | |
| ENST00000644278.1:n.136G>A | ||
| ENST00000644329.1:c.4453G>A | ENSP00000496611.1:p.Glu1485Lys | |
| ENST00000644335.1:c.4450G>A | ENSP00000496317.1:p.Glu1484Lys | |
| ENST00000644399.1:c.4575G>A | ||
| ENST00000645024.1:n.2738G>A | ||
| ENST00000646388.1:c.4648G>A | ENSP00000495921.1:p.Glu1550Lys | |
| ENST00000646634.1:n.3469G>A | ||
| ENST00000646674.1:n.1906G>A | ||
| ENST00000647042.1:n.1877G>A | ||
| ENST00000647180.1:n.1767G>A | ||
| ENST00000219476.7:c.4654G>A | ENSP00000219476.3:p.Glu1552Lys | |
| ENST00000350773.8:c.4585G>A | ENSP00000344383.4:p.Glu1529Lys | |
| ENST00000382538.10:c.4309G>A | ENSP00000371978.6:p.Glu1437Lys | |
| ENST00000401874.6:c.4453G>A | ENSP00000384468.2:p.Glu1485Lys | |
| ENST00000439117.6:c.*3821G>A | ENSP00000406980.2:n.*3821G>A | |
| ENST00000439673.6:c.4345G>A | ENSP00000399232.2:p.Glu1449Lys | |
| ENST00000497886.5:n.2412G>A | ||
| ENST00000568454.5:c.4486G>A | ENSP00000454487.1:p.Glu1496Lys | |
| ENST00000569110.1:c.836G>A | ||
| ENST00000569930.1:n.1769G>A | ||
| NM_000548.3:c.4654G>A , LRG_487t1:c.4654G>A | NP_000539.2:p.Glu1552Lys | |
| NM_001077183.1:c.4453G>A | NP_001070651.1:p.Glu1485Lys | |
| NM_001114382.1:c.4585G>A | NP_001107854.1:p.Glu1529Lys | |
| XM_005255529.3:c.4525G>A | XP_005255586.2:p.Glu1509Lys | |
| XM_005255531.3:c.4456G>A | XP_005255588.2:p.Glu1486Lys | |
| XM_011522636.1:c.4708G>A | XP_011520938.1:p.Glu1570Lys | |
| XM_011522637.1:c.4705G>A | XP_011520939.1:p.Glu1569Lys | |
| XM_011522638.1:c.4597G>A | XP_011520940.1:p.Glu1533Lys | |
| XM_011522639.1:c.4579G>A | XP_011520941.1:p.Glu1527Lys | |
| XM_011522640.1:c.4576G>A | XP_011520942.1:p.Glu1526Lys | |
| XM_011522641.1:c.4345G>A | XP_011520943.1:p.Glu1449Lys | |
| NM_000548.4:c.4654G>A | NP_000539.2:p.Glu1552Lys | |
| NM_001077183.2:c.4453G>A | NP_001070651.1:p.Glu1485Lys | |
| NM_001114382.2:c.4585G>A | NP_001107854.1:p.Glu1529Lys | |
| NM_001318827.1:c.4345G>A | NP_001305756.1:p.Glu1449Lys | |
| NM_001318829.1:c.4309G>A | NP_001305758.1:p.Glu1437Lys | |
| NM_001318831.1:c.3922G>A | NP_001305760.1:p.Glu1308Lys | |
| NM_001318832.1:c.4486G>A | NP_001305761.1:p.Glu1496Lys | |
| NM_001363528.1:c.4456G>A | NP_001350457.1:p.Glu1486Lys | |
| NM_021055.2:c.4525G>A | NP_066399.2:p.Glu1509Lys | |
| XM_005255531.4:c.4456G>A | XP_005255588.2:p.Glu1486Lys | |
| XM_011522636.2:c.4708G>A | XP_011520938.1:p.Glu1570Lys | |
| XM_011522637.2:c.4705G>A | XP_011520939.1:p.Glu1569Lys | |
| XM_011522638.2:c.4870G>A | XP_011520940.2:p.Glu1624Lys | |
| XM_011522639.2:c.4579G>A | XP_011520941.1:p.Glu1527Lys | |
| XM_011522640.2:c.4576G>A | XP_011520942.1:p.Glu1526Lys | |
| XM_017023615.1:c.4651G>A | XP_016879104.1:p.Glu1551Lys | |
| XM_017023616.1:c.4522G>A | XP_016879105.1:p.Glu1508Lys | |
| XM_017023617.1:c.4618G>A | XP_016879106.1:p.Glu1540Lys | |
| XM_017023618.1:c.3364G>A | XP_016879107.1:p.Glu1122Lys | |
| XM_024450413.1:c.4453G>A | XP_024306181.1:p.Glu1485Lys | |
| NM_000548.5:c.4654G>A MANE Select | NP_000539.2:p.Glu1552Lys | |
| NM_001370404.1:c.4522G>A | NP_001357333.1:p.Glu1508Lys | |
| NM_001370405.1:c.4525G>A | NP_001357334.1:p.Glu1509Lys | |
| NM_001077183.3:c.4453G>A | NP_001070651.1:p.Glu1485Lys | |
| NM_001114382.3:c.4585G>A | NP_001107854.1:p.Glu1529Lys | |
| NM_001318827.2:c.4345G>A | NP_001305756.1:p.Glu1449Lys | |
| NM_001318829.2:c.4309G>A | NP_001305758.1:p.Glu1437Lys | |
| NM_001318831.2:c.3922G>A | NP_001305760.1:p.Glu1308Lys | |
| NM_001318832.2:c.4486G>A | NP_001305761.1:p.Glu1496Lys | |
| NM_001363528.2:c.4456G>A | NP_001350457.1:p.Glu1486Lys | |
| NM_021055.3:c.4525G>A | NP_066399.2:p.Glu1509Lys |