Linked Data
ClinVar Variation Id:
50004
dbSNP Id:
rs45475501
ExAC:
16:2137902 G / A
gnomAD v2:
16-2137902-G-A
gnomAD v3:
16-2087901-G-A
gnomAD v4:
16-2087901-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2087901G>A , CM000678.2:g.2087901G>A | GRCh38 |
| NC_000016.9:g.2137902G>A , CM000678.1:g.2137902G>A | GRCh37 |
| NC_000016.8:g.2077903G>A | NCBI36 |
| NG_005895.1:g.43596G>A , LRG_487:g.43596G>A | |
| NG_008617.1:g.55320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3377G>A | ENSP00000455997.2:n.*3377G>A | |
| ENST00000642206.2:c.4875G>A | ENSP00000495146.2:p.Leu1625= | |
| ENST00000642365.2:c.5025G>A | ENSP00000495459.2:p.Leu1675= | |
| ENST00000644417.2:c.*5541G>A | ENSP00000493912.2:n.*5541G>A | |
| ENST00000646464.2:c.*7777G>A | ENSP00000496610.2:n.*7777G>A | |
| ENST00000219476.9:c.5028G>A MANE Select | ENSP00000219476.3:p.Leu1676= | |
| ENST00000350773.9:c.4959G>A | ENSP00000344383.4:p.Leu1653= | |
| ENST00000401874.7:c.4827G>A | ENSP00000384468.2:p.Leu1609= | |
| ENST00000568454.6:c.4860G>A | ENSP00000454487.1:p.Leu1620= | |
| ENST00000569110.2:c.1251G>A | ||
| ENST00000569930.2:n.2910G>A | ||
| ENST00000642365.1:c.3682G>A | ||
| ENST00000642561.1:c.4899G>A | ENSP00000495099.1:p.Leu1633= | |
| ENST00000642791.1:n.625G>A | ||
| ENST00000642797.1:c.4830G>A | ENSP00000493846.1:p.Leu1610= | |
| ENST00000642936.1:c.4896G>A | ENSP00000494514.1:p.Leu1632= | |
| ENST00000643088.1:c.4821G>A | ENSP00000494747.1:p.Leu1607= | |
| ENST00000643177.1:n.1042G>A | ||
| ENST00000643426.1:n.2676G>A | ||
| ENST00000643946.1:c.4953G>A | ENSP00000495927.1:p.Leu1651= | |
| ENST00000644043.1:c.4899G>A | ENSP00000496262.1:p.Leu1633= | |
| ENST00000644278.1:n.510G>A | ||
| ENST00000644329.1:c.4827G>A | ENSP00000496611.1:p.Leu1609= | |
| ENST00000644335.1:c.4824G>A | ENSP00000496317.1:p.Leu1608= | |
| ENST00000644399.1:c.4949G>A | ||
| ENST00000645024.1:n.3112G>A | ||
| ENST00000646388.1:c.5022G>A | ENSP00000495921.1:p.Leu1674= | |
| ENST00000646634.1:n.3843G>A | ||
| ENST00000646674.1:n.2280G>A | ||
| ENST00000647042.1:n.2251G>A | ||
| ENST00000647180.1:n.2141G>A | ||
| ENST00000219476.7:c.5028G>A | ENSP00000219476.3:p.Leu1676= | |
| ENST00000350773.8:c.4959G>A | ENSP00000344383.4:p.Leu1653= | |
| ENST00000382538.10:c.4683G>A | ENSP00000371978.6:p.Leu1561= | |
| ENST00000401874.6:c.4827G>A | ENSP00000384468.2:p.Leu1609= | |
| ENST00000439117.6:c.*4195G>A | ENSP00000406980.2:n.*4195G>A | |
| ENST00000439673.6:c.4719G>A | ENSP00000399232.2:p.Leu1573= | |
| ENST00000497886.5:n.2751G>A | ||
| ENST00000568454.5:c.4860G>A | ENSP00000454487.1:p.Leu1620= | |
| ENST00000569110.1:c.1210G>A | ||
| ENST00000569930.1:n.2143G>A | ||
| NM_000548.3:c.5028G>A , LRG_487t1:c.5028G>A | NP_000539.2:p.Leu1676= | |
| NM_001077183.1:c.4827G>A | NP_001070651.1:p.Leu1609= | |
| NM_001114382.1:c.4959G>A | NP_001107854.1:p.Leu1653= | |
| XM_005255529.3:c.4899G>A | XP_005255586.2:p.Leu1633= | |
| XM_005255531.3:c.4830G>A | XP_005255588.2:p.Leu1610= | |
| XM_011522636.1:c.5082G>A | XP_011520938.1:p.Leu1694= | |
| XM_011522637.1:c.5079G>A | XP_011520939.1:p.Leu1693= | |
| XM_011522638.1:c.4971G>A | XP_011520940.1:p.Leu1657= | |
| XM_011522639.1:c.4953G>A | XP_011520941.1:p.Leu1651= | |
| XM_011522640.1:c.4950G>A | XP_011520942.1:p.Leu1650= | |
| XM_011522641.1:c.4719G>A | XP_011520943.1:p.Leu1573= | |
| NM_000548.4:c.5028G>A | NP_000539.2:p.Leu1676= | |
| NM_001077183.2:c.4827G>A | NP_001070651.1:p.Leu1609= | |
| NM_001114382.2:c.4959G>A | NP_001107854.1:p.Leu1653= | |
| NM_001318827.1:c.4719G>A | NP_001305756.1:p.Leu1573= | |
| NM_001318829.1:c.4683G>A | NP_001305758.1:p.Leu1561= | |
| NM_001318831.1:c.4296G>A | NP_001305760.1:p.Leu1432= | |
| NM_001318832.1:c.4860G>A | NP_001305761.1:p.Leu1620= | |
| NM_001363528.1:c.4830G>A | NP_001350457.1:p.Leu1610= | |
| NM_021055.2:c.4899G>A | NP_066399.2:p.Leu1633= | |
| XM_005255531.4:c.4830G>A | XP_005255588.2:p.Leu1610= | |
| XM_011522636.2:c.5082G>A | XP_011520938.1:p.Leu1694= | |
| XM_011522637.2:c.5079G>A | XP_011520939.1:p.Leu1693= | |
| XM_011522638.2:c.5244G>A | XP_011520940.2:p.Leu1748= | |
| XM_011522639.2:c.4953G>A | XP_011520941.1:p.Leu1651= | |
| XM_011522640.2:c.4950G>A | XP_011520942.1:p.Leu1650= | |
| XM_017023615.1:c.5025G>A | XP_016879104.1:p.Leu1675= | |
| XM_017023616.1:c.4896G>A | XP_016879105.1:p.Leu1632= | |
| XM_017023617.1:c.4992G>A | XP_016879106.1:p.Leu1664= | |
| XM_017023618.1:c.3738G>A | XP_016879107.1:p.Leu1246= | |
| XM_024450413.1:c.4827G>A | XP_024306181.1:p.Leu1609= | |
| NM_000548.5:c.5028G>A MANE Select | NP_000539.2:p.Leu1676= | |
| NM_001370404.1:c.4896G>A | NP_001357333.1:p.Leu1632= | |
| NM_001370405.1:c.4899G>A | NP_001357334.1:p.Leu1633= | |
| NM_001077183.3:c.4827G>A | NP_001070651.1:p.Leu1609= | |
| NM_001114382.3:c.4959G>A | NP_001107854.1:p.Leu1653= | |
| NM_001318827.2:c.4719G>A | NP_001305756.1:p.Leu1573= | |
| NM_001318829.2:c.4683G>A | NP_001305758.1:p.Leu1561= | |
| NM_001318831.2:c.4296G>A | NP_001305760.1:p.Leu1432= | |
| NM_001318832.2:c.4860G>A | NP_001305761.1:p.Leu1620= | |
| NM_001363528.2:c.4830G>A | NP_001350457.1:p.Leu1610= | |
| NM_021055.3:c.4899G>A | NP_066399.2:p.Leu1633= |