Linked Data
ClinVar Variation Id:
514715
dbSNP Id:
rs748947919
ExAC:
16:2138523 A / G
gnomAD v2:
16-2138523-A-G
gnomAD v3:
16-2088522-A-G
gnomAD v4:
16-2088522-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088522A>G , CM000678.2:g.2088522A>G | GRCh38 |
| NC_000016.9:g.2138523A>G , CM000678.1:g.2138523A>G | GRCh37 |
| NC_000016.8:g.2078524A>G | NCBI36 |
| NG_005895.1:g.44217A>G , LRG_487:g.44217A>G | |
| NG_008617.1:g.54699T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3685A>G | ENSP00000455997.2:n.*3685A>G | |
| ENST00000642206.2:c.5183A>G | ENSP00000495146.2:p.Gln1728Arg | |
| ENST00000642365.2:c.5333A>G | ENSP00000495459.2:p.Gln1778Arg | |
| ENST00000644417.2:c.*5849A>G | ENSP00000493912.2:n.*5849A>G | |
| ENST00000646464.2:c.*8085A>G | ENSP00000496610.2:n.*8085A>G | |
| ENST00000219476.9:c.5336A>G MANE Select | ENSP00000219476.3:p.Gln1779Arg | |
| ENST00000350773.9:c.5267A>G | ENSP00000344383.4:p.Gln1756Arg | |
| ENST00000401874.7:c.5135A>G | ENSP00000384468.2:p.Gln1712Arg | |
| ENST00000568454.6:c.5168A>G | ENSP00000454487.1:p.Gln1723Arg | |
| ENST00000569110.2:c.1559A>G | ||
| ENST00000569930.2:n.3218A>G | ||
| ENST00000642365.1:c.3990A>G | ||
| ENST00000642561.1:c.5195A>G | ENSP00000495099.1:p.Gln1732Arg | |
| ENST00000642791.1:n.933A>G | ||
| ENST00000642797.1:c.5138A>G | ENSP00000493846.1:p.Gln1713Arg | |
| ENST00000642936.1:c.5204A>G | ENSP00000494514.1:p.Gln1735Arg | |
| ENST00000643088.1:c.5129A>G | ENSP00000494747.1:p.Gln1710Arg | |
| ENST00000643426.1:n.2984A>G | ||
| ENST00000643946.1:c.5261A>G | ENSP00000495927.1:p.Gln1754Arg | |
| ENST00000644043.1:c.5207A>G | ENSP00000496262.1:p.Gln1736Arg | |
| ENST00000644329.1:c.5222A>G | ENSP00000496611.1:p.Gln1741Arg | |
| ENST00000644335.1:c.5132A>G | ENSP00000496317.1:p.Gln1711Arg | |
| ENST00000644399.1:c.5257A>G | ||
| ENST00000645024.1:n.3420A>G | ||
| ENST00000646388.1:c.5330A>G | ENSP00000495921.1:p.Gln1777Arg | |
| ENST00000646634.1:n.4151A>G | ||
| ENST00000646674.1:n.2588A>G | ||
| ENST00000647042.1:n.2559A>G | ||
| ENST00000647180.1:n.2449A>G | ||
| ENST00000219476.7:c.5336A>G | ENSP00000219476.3:p.Gln1779Arg | |
| ENST00000350773.8:c.5267A>G | ENSP00000344383.4:p.Gln1756Arg | |
| ENST00000382538.10:c.4991A>G | ENSP00000371978.6:p.Gln1664Arg | |
| ENST00000401874.6:c.5135A>G | ENSP00000384468.2:p.Gln1712Arg | |
| ENST00000439117.6:c.*4503A>G | ENSP00000406980.2:n.*4503A>G | |
| ENST00000439673.6:c.5027A>G | ENSP00000399232.2:p.Gln1676Arg | |
| ENST00000497886.5:n.3059A>G | ||
| ENST00000568454.5:c.5168A>G | ENSP00000454487.1:p.Gln1723Arg | |
| ENST00000569110.1:c.1518A>G | ||
| ENST00000569930.1:n.2451A>G | ||
| NM_000548.3:c.5336A>G , LRG_487t1:c.5336A>G | NP_000539.2:p.Gln1779Arg | |
| NM_001077183.1:c.5135A>G | NP_001070651.1:p.Gln1712Arg | |
| NM_001114382.1:c.5267A>G | NP_001107854.1:p.Gln1756Arg | |
| XM_005255529.3:c.5207A>G | XP_005255586.2:p.Gln1736Arg | |
| XM_005255531.3:c.5138A>G | XP_005255588.2:p.Gln1713Arg | |
| XM_011522636.1:c.5390A>G | XP_011520938.1:p.Gln1797Arg | |
| XM_011522637.1:c.5387A>G | XP_011520939.1:p.Gln1796Arg | |
| XM_011522638.1:c.5279A>G | XP_011520940.1:p.Gln1760Arg | |
| XM_011522639.1:c.5261A>G | XP_011520941.1:p.Gln1754Arg | |
| XM_011522640.1:c.5258A>G | XP_011520942.1:p.Gln1753Arg | |
| XM_011522641.1:c.5027A>G | XP_011520943.1:p.Gln1676Arg | |
| NM_000548.4:c.5336A>G | NP_000539.2:p.Gln1779Arg | |
| NM_001077183.2:c.5135A>G | NP_001070651.1:p.Gln1712Arg | |
| NM_001114382.2:c.5267A>G | NP_001107854.1:p.Gln1756Arg | |
| NM_001318827.1:c.5027A>G | NP_001305756.1:p.Gln1676Arg | |
| NM_001318829.1:c.4991A>G | NP_001305758.1:p.Gln1664Arg | |
| NM_001318831.1:c.4604A>G | NP_001305760.1:p.Gln1535Arg | |
| NM_001318832.1:c.5168A>G | NP_001305761.1:p.Gln1723Arg | |
| NM_001363528.1:c.5138A>G | NP_001350457.1:p.Gln1713Arg | |
| NM_021055.2:c.5207A>G | NP_066399.2:p.Gln1736Arg | |
| XM_005255531.4:c.5138A>G | XP_005255588.2:p.Gln1713Arg | |
| XM_011522636.2:c.5390A>G | XP_011520938.1:p.Gln1797Arg | |
| XM_011522637.2:c.5387A>G | XP_011520939.1:p.Gln1796Arg | |
| XM_011522638.2:c.5552A>G | XP_011520940.2:p.Gln1851Arg | |
| XM_011522639.2:c.5261A>G | XP_011520941.1:p.Gln1754Arg | |
| XM_011522640.2:c.5258A>G | XP_011520942.1:p.Gln1753Arg | |
| XM_017023615.1:c.5333A>G | XP_016879104.1:p.Gln1778Arg | |
| XM_017023616.1:c.5204A>G | XP_016879105.1:p.Gln1735Arg | |
| XM_017023617.1:c.5300A>G | XP_016879106.1:p.Gln1767Arg | |
| XM_017023618.1:c.4046A>G | XP_016879107.1:p.Gln1349Arg | |
| XM_024450413.1:c.5222A>G | XP_024306181.1:p.Gln1741Arg | |
| NM_000548.5:c.5336A>G MANE Select | NP_000539.2:p.Gln1779Arg | |
| NM_001370404.1:c.5204A>G | NP_001357333.1:p.Gln1735Arg | |
| NM_001370405.1:c.5195A>G | NP_001357334.1:p.Gln1732Arg | |
| NM_001077183.3:c.5135A>G | NP_001070651.1:p.Gln1712Arg | |
| NM_001114382.3:c.5267A>G | NP_001107854.1:p.Gln1756Arg | |
| NM_001318827.2:c.5027A>G | NP_001305756.1:p.Gln1676Arg | |
| NM_001318829.2:c.4991A>G | NP_001305758.1:p.Gln1664Arg | |
| NM_001318831.2:c.4604A>G | NP_001305760.1:p.Gln1535Arg | |
| NM_001318832.2:c.5168A>G | NP_001305761.1:p.Gln1723Arg | |
| NM_001363528.2:c.5138A>G | NP_001350457.1:p.Gln1713Arg | |
| NM_021055.3:c.5207A>G | NP_066399.2:p.Gln1736Arg |