Linked Data
ClinVar Variation Id:
406065
dbSNP Id:
rs1050594534
gnomAD v2:
16-2136856-A-G
gnomAD v3:
16-2086855-A-G
gnomAD v4:
16-2086855-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086855A>G , CM000678.2:g.2086855A>G | GRCh38 |
| NC_000016.9:g.2136856A>G , CM000678.1:g.2136856A>G | GRCh37 |
| NC_000016.8:g.2076857A>G | NCBI36 |
| NG_005895.1:g.42550A>G , LRG_487:g.42550A>G | |
| NG_008617.1:g.56366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3322A>G | ENSP00000455997.2:n.*3322A>G | |
| ENST00000642206.2:c.4820A>G | ENSP00000495146.2:p.Lys1607Arg | |
| ENST00000642365.2:c.4970A>G | ENSP00000495459.2:p.Lys1657Arg | |
| ENST00000644417.2:c.*5486A>G | ENSP00000493912.2:n.*5486A>G | |
| ENST00000646464.2:c.*7722A>G | ENSP00000496610.2:n.*7722A>G | |
| ENST00000219476.9:c.4973A>G MANE Select | ENSP00000219476.3:p.Lys1658Arg | |
| ENST00000350773.9:c.4904A>G | ENSP00000344383.4:p.Lys1635Arg | |
| ENST00000401874.7:c.4772A>G | ENSP00000384468.2:p.Lys1591Arg | |
| ENST00000568454.6:c.4805A>G | ENSP00000454487.1:p.Lys1602Arg | |
| ENST00000569110.2:c.1196A>G | ||
| ENST00000569930.2:n.2855A>G | ||
| ENST00000642365.1:c.3627A>G | ||
| ENST00000642561.1:c.4844A>G | ENSP00000495099.1:p.Lys1615Arg | |
| ENST00000642728.1:n.1155A>G | ||
| ENST00000642791.1:n.570A>G | ||
| ENST00000642797.1:c.4775A>G | ENSP00000493846.1:p.Lys1592Arg | |
| ENST00000642936.1:c.4841A>G | ENSP00000494514.1:p.Lys1614Arg | |
| ENST00000643088.1:c.4766A>G | ENSP00000494747.1:p.Lys1589Arg | |
| ENST00000643177.1:n.987A>G | ||
| ENST00000643426.1:n.2621A>G | ||
| ENST00000643946.1:c.4898A>G | ENSP00000495927.1:p.Lys1633Arg | |
| ENST00000644043.1:c.4844A>G | ENSP00000496262.1:p.Lys1615Arg | |
| ENST00000644278.1:n.455A>G | ||
| ENST00000644329.1:c.4772A>G | ENSP00000496611.1:p.Lys1591Arg | |
| ENST00000644335.1:c.4769A>G | ENSP00000496317.1:p.Lys1590Arg | |
| ENST00000644399.1:c.4894A>G | ||
| ENST00000645024.1:n.3057A>G | ||
| ENST00000646388.1:c.4967A>G | ENSP00000495921.1:p.Lys1656Arg | |
| ENST00000646557.1:n.134A>G | ||
| ENST00000646634.1:n.3788A>G | ||
| ENST00000646674.1:n.2225A>G | ||
| ENST00000647042.1:n.2196A>G | ||
| ENST00000647180.1:n.2086A>G | ||
| ENST00000219476.7:c.4973A>G | ENSP00000219476.3:p.Lys1658Arg | |
| ENST00000350773.8:c.4904A>G | ENSP00000344383.4:p.Lys1635Arg | |
| ENST00000382538.10:c.4628A>G | ENSP00000371978.6:p.Lys1543Arg | |
| ENST00000401874.6:c.4772A>G | ENSP00000384468.2:p.Lys1591Arg | |
| ENST00000439117.6:c.*4140A>G | ENSP00000406980.2:n.*4140A>G | |
| ENST00000439673.6:c.4664A>G | ENSP00000399232.2:p.Lys1555Arg | |
| ENST00000497886.5:n.2696A>G | ||
| ENST00000568454.5:c.4805A>G | ENSP00000454487.1:p.Lys1602Arg | |
| ENST00000569110.1:c.1155A>G | ||
| ENST00000569930.1:n.2088A>G | ||
| NM_000548.3:c.4973A>G , LRG_487t1:c.4973A>G | NP_000539.2:p.Lys1658Arg | |
| NM_001077183.1:c.4772A>G | NP_001070651.1:p.Lys1591Arg | |
| NM_001114382.1:c.4904A>G | NP_001107854.1:p.Lys1635Arg | |
| XM_005255529.3:c.4844A>G | XP_005255586.2:p.Lys1615Arg | |
| XM_005255531.3:c.4775A>G | XP_005255588.2:p.Lys1592Arg | |
| XM_011522636.1:c.5027A>G | XP_011520938.1:p.Lys1676Arg | |
| XM_011522637.1:c.5024A>G | XP_011520939.1:p.Lys1675Arg | |
| XM_011522638.1:c.4916A>G | XP_011520940.1:p.Lys1639Arg | |
| XM_011522639.1:c.4898A>G | XP_011520941.1:p.Lys1633Arg | |
| XM_011522640.1:c.4895A>G | XP_011520942.1:p.Lys1632Arg | |
| XM_011522641.1:c.4664A>G | XP_011520943.1:p.Lys1555Arg | |
| NM_000548.4:c.4973A>G | NP_000539.2:p.Lys1658Arg | |
| NM_001077183.2:c.4772A>G | NP_001070651.1:p.Lys1591Arg | |
| NM_001114382.2:c.4904A>G | NP_001107854.1:p.Lys1635Arg | |
| NM_001318827.1:c.4664A>G | NP_001305756.1:p.Lys1555Arg | |
| NM_001318829.1:c.4628A>G | NP_001305758.1:p.Lys1543Arg | |
| NM_001318831.1:c.4241A>G | NP_001305760.1:p.Lys1414Arg | |
| NM_001318832.1:c.4805A>G | NP_001305761.1:p.Lys1602Arg | |
| NM_001363528.1:c.4775A>G | NP_001350457.1:p.Lys1592Arg | |
| NM_021055.2:c.4844A>G | NP_066399.2:p.Lys1615Arg | |
| XM_005255531.4:c.4775A>G | XP_005255588.2:p.Lys1592Arg | |
| XM_011522636.2:c.5027A>G | XP_011520938.1:p.Lys1676Arg | |
| XM_011522637.2:c.5024A>G | XP_011520939.1:p.Lys1675Arg | |
| XM_011522638.2:c.5189A>G | XP_011520940.2:p.Lys1730Arg | |
| XM_011522639.2:c.4898A>G | XP_011520941.1:p.Lys1633Arg | |
| XM_011522640.2:c.4895A>G | XP_011520942.1:p.Lys1632Arg | |
| XM_017023615.1:c.4970A>G | XP_016879104.1:p.Lys1657Arg | |
| XM_017023616.1:c.4841A>G | XP_016879105.1:p.Lys1614Arg | |
| XM_017023617.1:c.4937A>G | XP_016879106.1:p.Lys1646Arg | |
| XM_017023618.1:c.3683A>G | XP_016879107.1:p.Lys1228Arg | |
| XM_024450413.1:c.4772A>G | XP_024306181.1:p.Lys1591Arg | |
| NM_000548.5:c.4973A>G MANE Select | NP_000539.2:p.Lys1658Arg | |
| NM_001370404.1:c.4841A>G | NP_001357333.1:p.Lys1614Arg | |
| NM_001370405.1:c.4844A>G | NP_001357334.1:p.Lys1615Arg | |
| NM_001077183.3:c.4772A>G | NP_001070651.1:p.Lys1591Arg | |
| NM_001114382.3:c.4904A>G | NP_001107854.1:p.Lys1635Arg | |
| NM_001318827.2:c.4664A>G | NP_001305756.1:p.Lys1555Arg | |
| NM_001318829.2:c.4628A>G | NP_001305758.1:p.Lys1543Arg | |
| NM_001318831.2:c.4241A>G | NP_001305760.1:p.Lys1414Arg | |
| NM_001318832.2:c.4805A>G | NP_001305761.1:p.Lys1602Arg | |
| NM_001363528.2:c.4775A>G | NP_001350457.1:p.Lys1592Arg | |
| NM_021055.3:c.4844A>G | NP_066399.2:p.Lys1615Arg |