Linked Data
ClinVar Variation Id:
65216
dbSNP Id:
rs201206500
ExAC:
16:2138135 G / A
gnomAD v2:
16-2138135-G-A
gnomAD v3:
16-2088134-G-A
gnomAD v4:
16-2088134-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088134G>A , CM000678.2:g.2088134G>A | GRCh38 |
| NC_000016.9:g.2138135G>A , CM000678.1:g.2138135G>A | GRCh37 |
| NC_000016.8:g.2078136G>A | NCBI36 |
| NG_005895.1:g.43829G>A , LRG_487:g.43829G>A | |
| NG_008617.1:g.55087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3504G>A | ENSP00000455997.2:n.*3504G>A | |
| ENST00000642206.2:c.5002G>A | ENSP00000495146.2:p.Ala1668Thr | |
| ENST00000642365.2:c.5152G>A | ENSP00000495459.2:p.Ala1718Thr | |
| ENST00000644417.2:c.*5668G>A | ENSP00000493912.2:n.*5668G>A | |
| ENST00000646464.2:c.*7904G>A | ENSP00000496610.2:n.*7904G>A | |
| ENST00000219476.9:c.5155G>A MANE Select | ENSP00000219476.3:p.Ala1719Thr | |
| ENST00000350773.9:c.5086G>A | ENSP00000344383.4:p.Ala1696Thr | |
| ENST00000401874.7:c.4954G>A | ENSP00000384468.2:p.Ala1652Thr | |
| ENST00000568454.6:c.4987G>A | ENSP00000454487.1:p.Ala1663Thr | |
| ENST00000569110.2:c.1378G>A | ||
| ENST00000569930.2:n.3037G>A | ||
| ENST00000642365.1:c.3809G>A | ||
| ENST00000642561.1:c.5026G>A | ENSP00000495099.1:p.Ala1676Thr | |
| ENST00000642791.1:n.752G>A | ||
| ENST00000642797.1:c.4957G>A | ENSP00000493846.1:p.Ala1653Thr | |
| ENST00000642936.1:c.5023G>A | ENSP00000494514.1:p.Ala1675Thr | |
| ENST00000643088.1:c.4948G>A | ENSP00000494747.1:p.Ala1650Thr | |
| ENST00000643426.1:n.2803G>A | ||
| ENST00000643946.1:c.5080G>A | ENSP00000495927.1:p.Ala1694Thr | |
| ENST00000644043.1:c.5026G>A | ENSP00000496262.1:p.Ala1676Thr | |
| ENST00000644329.1:c.4954G>A | ENSP00000496611.1:p.Ala1652Thr | |
| ENST00000644335.1:c.4951G>A | ENSP00000496317.1:p.Ala1651Thr | |
| ENST00000644399.1:c.5076G>A | ||
| ENST00000645024.1:n.3239G>A | ||
| ENST00000646388.1:c.5149G>A | ENSP00000495921.1:p.Ala1717Thr | |
| ENST00000646634.1:n.3970G>A | ||
| ENST00000646674.1:n.2407G>A | ||
| ENST00000647042.1:n.2378G>A | ||
| ENST00000647180.1:n.2268G>A | ||
| ENST00000219476.7:c.5155G>A | ENSP00000219476.3:p.Ala1719Thr | |
| ENST00000350773.8:c.5086G>A | ENSP00000344383.4:p.Ala1696Thr | |
| ENST00000382538.10:c.4810G>A | ENSP00000371978.6:p.Ala1604Thr | |
| ENST00000401874.6:c.4954G>A | ENSP00000384468.2:p.Ala1652Thr | |
| ENST00000439117.6:c.*4322G>A | ENSP00000406980.2:n.*4322G>A | |
| ENST00000439673.6:c.4846G>A | ENSP00000399232.2:p.Ala1616Thr | |
| ENST00000497886.5:n.2878G>A | ||
| ENST00000568454.5:c.4987G>A | ENSP00000454487.1:p.Ala1663Thr | |
| ENST00000569110.1:c.1337G>A | ||
| ENST00000569930.1:n.2270G>A | ||
| NM_000548.3:c.5155G>A , LRG_487t1:c.5155G>A | NP_000539.2:p.Ala1719Thr | |
| NM_001077183.1:c.4954G>A | NP_001070651.1:p.Ala1652Thr | |
| NM_001114382.1:c.5086G>A | NP_001107854.1:p.Ala1696Thr | |
| XM_005255529.3:c.5026G>A | XP_005255586.2:p.Ala1676Thr | |
| XM_005255531.3:c.4957G>A | XP_005255588.2:p.Ala1653Thr | |
| XM_011522636.1:c.5209G>A | XP_011520938.1:p.Ala1737Thr | |
| XM_011522637.1:c.5206G>A | XP_011520939.1:p.Ala1736Thr | |
| XM_011522638.1:c.5098G>A | XP_011520940.1:p.Ala1700Thr | |
| XM_011522639.1:c.5080G>A | XP_011520941.1:p.Ala1694Thr | |
| XM_011522640.1:c.5077G>A | XP_011520942.1:p.Ala1693Thr | |
| XM_011522641.1:c.4846G>A | XP_011520943.1:p.Ala1616Thr | |
| NM_000548.4:c.5155G>A | NP_000539.2:p.Ala1719Thr | |
| NM_001077183.2:c.4954G>A | NP_001070651.1:p.Ala1652Thr | |
| NM_001114382.2:c.5086G>A | NP_001107854.1:p.Ala1696Thr | |
| NM_001318827.1:c.4846G>A | NP_001305756.1:p.Ala1616Thr | |
| NM_001318829.1:c.4810G>A | NP_001305758.1:p.Ala1604Thr | |
| NM_001318831.1:c.4423G>A | NP_001305760.1:p.Ala1475Thr | |
| NM_001318832.1:c.4987G>A | NP_001305761.1:p.Ala1663Thr | |
| NM_001363528.1:c.4957G>A | NP_001350457.1:p.Ala1653Thr | |
| NM_021055.2:c.5026G>A | NP_066399.2:p.Ala1676Thr | |
| XM_005255531.4:c.4957G>A | XP_005255588.2:p.Ala1653Thr | |
| XM_011522636.2:c.5209G>A | XP_011520938.1:p.Ala1737Thr | |
| XM_011522637.2:c.5206G>A | XP_011520939.1:p.Ala1736Thr | |
| XM_011522638.2:c.5371G>A | XP_011520940.2:p.Ala1791Thr | |
| XM_011522639.2:c.5080G>A | XP_011520941.1:p.Ala1694Thr | |
| XM_011522640.2:c.5077G>A | XP_011520942.1:p.Ala1693Thr | |
| XM_017023615.1:c.5152G>A | XP_016879104.1:p.Ala1718Thr | |
| XM_017023616.1:c.5023G>A | XP_016879105.1:p.Ala1675Thr | |
| XM_017023617.1:c.5119G>A | XP_016879106.1:p.Ala1707Thr | |
| XM_017023618.1:c.3865G>A | XP_016879107.1:p.Ala1289Thr | |
| XM_024450413.1:c.4954G>A | XP_024306181.1:p.Ala1652Thr | |
| NM_000548.5:c.5155G>A MANE Select | NP_000539.2:p.Ala1719Thr | |
| NM_001370404.1:c.5023G>A | NP_001357333.1:p.Ala1675Thr | |
| NM_001370405.1:c.5026G>A | NP_001357334.1:p.Ala1676Thr | |
| NM_001077183.3:c.4954G>A | NP_001070651.1:p.Ala1652Thr | |
| NM_001114382.3:c.5086G>A | NP_001107854.1:p.Ala1696Thr | |
| NM_001318827.2:c.4846G>A | NP_001305756.1:p.Ala1616Thr | |
| NM_001318829.2:c.4810G>A | NP_001305758.1:p.Ala1604Thr | |
| NM_001318831.2:c.4423G>A | NP_001305760.1:p.Ala1475Thr | |
| NM_001318832.2:c.4987G>A | NP_001305761.1:p.Ala1663Thr | |
| NM_001363528.2:c.4957G>A | NP_001350457.1:p.Ala1653Thr | |
| NM_021055.3:c.5026G>A | NP_066399.2:p.Ala1676Thr |