Linked Data
ClinVar Variation Id:
535883
dbSNP Id:
rs45517414
gnomAD v2:
16-2138321-C-G
gnomAD v3:
16-2088320-C-G
gnomAD v4:
16-2088320-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088320C>G , CM000678.2:g.2088320C>G | GRCh38 |
| NC_000016.9:g.2138321C>G , CM000678.1:g.2138321C>G | GRCh37 |
| NC_000016.8:g.2078322C>G | NCBI36 |
| NG_005895.1:g.44015C>G , LRG_487:g.44015C>G | |
| NG_008617.1:g.54901G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3603C>G | ENSP00000455997.2:n.*3603C>G | |
| ENST00000642206.2:c.5101C>G | ENSP00000495146.2:p.Gln1701Glu | |
| ENST00000642365.2:c.5251C>G | ENSP00000495459.2:p.Gln1751Glu | |
| ENST00000644417.2:c.*5767C>G | ENSP00000493912.2:n.*5767C>G | |
| ENST00000646464.2:c.*8003C>G | ENSP00000496610.2:n.*8003C>G | |
| ENST00000219476.9:c.5254C>G MANE Select | ENSP00000219476.3:p.Gln1752Glu | |
| ENST00000350773.9:c.5185C>G | ENSP00000344383.4:p.Gln1729Glu | |
| ENST00000401874.7:c.5053C>G | ENSP00000384468.2:p.Gln1685Glu | |
| ENST00000568454.6:c.5086C>G | ENSP00000454487.1:p.Gln1696Glu | |
| ENST00000569110.2:c.1477C>G | ||
| ENST00000569930.2:n.3136C>G | ||
| ENST00000642365.1:c.3908C>G | ||
| ENST00000642561.1:c.5113C>G | ENSP00000495099.1:p.Gln1705Glu | |
| ENST00000642791.1:n.851C>G | ||
| ENST00000642797.1:c.5056C>G | ENSP00000493846.1:p.Gln1686Glu | |
| ENST00000642936.1:c.5122C>G | ENSP00000494514.1:p.Gln1708Glu | |
| ENST00000643088.1:c.5047C>G | ENSP00000494747.1:p.Gln1683Glu | |
| ENST00000643426.1:n.2902C>G | ||
| ENST00000643946.1:c.5179C>G | ENSP00000495927.1:p.Gln1727Glu | |
| ENST00000644043.1:c.5125C>G | ENSP00000496262.1:p.Gln1709Glu | |
| ENST00000644329.1:c.5140C>G | ENSP00000496611.1:p.Gln1714Glu | |
| ENST00000644335.1:c.5050C>G | ENSP00000496317.1:p.Gln1684Glu | |
| ENST00000644399.1:c.5175C>G | ||
| ENST00000645024.1:n.3338C>G | ||
| ENST00000646388.1:c.5248C>G | ENSP00000495921.1:p.Gln1750Glu | |
| ENST00000646634.1:n.4069C>G | ||
| ENST00000646674.1:n.2506C>G | ||
| ENST00000647042.1:n.2477C>G | ||
| ENST00000647180.1:n.2367C>G | ||
| ENST00000219476.7:c.5254C>G | ENSP00000219476.3:p.Gln1752Glu | |
| ENST00000350773.8:c.5185C>G | ENSP00000344383.4:p.Gln1729Glu | |
| ENST00000382538.10:c.4909C>G | ENSP00000371978.6:p.Gln1637Glu | |
| ENST00000401874.6:c.5053C>G | ENSP00000384468.2:p.Gln1685Glu | |
| ENST00000439117.6:c.*4421C>G | ENSP00000406980.2:n.*4421C>G | |
| ENST00000439673.6:c.4945C>G | ENSP00000399232.2:p.Gln1649Glu | |
| ENST00000497886.5:n.2977C>G | ||
| ENST00000568454.5:c.5086C>G | ENSP00000454487.1:p.Gln1696Glu | |
| ENST00000569110.1:c.1436C>G | ||
| ENST00000569930.1:n.2369C>G | ||
| NM_000548.3:c.5254C>G , LRG_487t1:c.5254C>G | NP_000539.2:p.Gln1752Glu | |
| NM_001077183.1:c.5053C>G | NP_001070651.1:p.Gln1685Glu | |
| NM_001114382.1:c.5185C>G | NP_001107854.1:p.Gln1729Glu | |
| XM_005255529.3:c.5125C>G | XP_005255586.2:p.Gln1709Glu | |
| XM_005255531.3:c.5056C>G | XP_005255588.2:p.Gln1686Glu | |
| XM_011522636.1:c.5308C>G | XP_011520938.1:p.Gln1770Glu | |
| XM_011522637.1:c.5305C>G | XP_011520939.1:p.Gln1769Glu | |
| XM_011522638.1:c.5197C>G | XP_011520940.1:p.Gln1733Glu | |
| XM_011522639.1:c.5179C>G | XP_011520941.1:p.Gln1727Glu | |
| XM_011522640.1:c.5176C>G | XP_011520942.1:p.Gln1726Glu | |
| XM_011522641.1:c.4945C>G | XP_011520943.1:p.Gln1649Glu | |
| NM_000548.4:c.5254C>G | NP_000539.2:p.Gln1752Glu | |
| NM_001077183.2:c.5053C>G | NP_001070651.1:p.Gln1685Glu | |
| NM_001114382.2:c.5185C>G | NP_001107854.1:p.Gln1729Glu | |
| NM_001318827.1:c.4945C>G | NP_001305756.1:p.Gln1649Glu | |
| NM_001318829.1:c.4909C>G | NP_001305758.1:p.Gln1637Glu | |
| NM_001318831.1:c.4522C>G | NP_001305760.1:p.Gln1508Glu | |
| NM_001318832.1:c.5086C>G | NP_001305761.1:p.Gln1696Glu | |
| NM_001363528.1:c.5056C>G | NP_001350457.1:p.Gln1686Glu | |
| NM_021055.2:c.5125C>G | NP_066399.2:p.Gln1709Glu | |
| XM_005255531.4:c.5056C>G | XP_005255588.2:p.Gln1686Glu | |
| XM_011522636.2:c.5308C>G | XP_011520938.1:p.Gln1770Glu | |
| XM_011522637.2:c.5305C>G | XP_011520939.1:p.Gln1769Glu | |
| XM_011522638.2:c.5470C>G | XP_011520940.2:p.Gln1824Glu | |
| XM_011522639.2:c.5179C>G | XP_011520941.1:p.Gln1727Glu | |
| XM_011522640.2:c.5176C>G | XP_011520942.1:p.Gln1726Glu | |
| XM_017023615.1:c.5251C>G | XP_016879104.1:p.Gln1751Glu | |
| XM_017023616.1:c.5122C>G | XP_016879105.1:p.Gln1708Glu | |
| XM_017023617.1:c.5218C>G | XP_016879106.1:p.Gln1740Glu | |
| XM_017023618.1:c.3964C>G | XP_016879107.1:p.Gln1322Glu | |
| XM_024450413.1:c.5140C>G | XP_024306181.1:p.Gln1714Glu | |
| NM_000548.5:c.5254C>G MANE Select | NP_000539.2:p.Gln1752Glu | |
| NM_001370404.1:c.5122C>G | NP_001357333.1:p.Gln1708Glu | |
| NM_001370405.1:c.5113C>G | NP_001357334.1:p.Gln1705Glu | |
| NM_001077183.3:c.5053C>G | NP_001070651.1:p.Gln1685Glu | |
| NM_001114382.3:c.5185C>G | NP_001107854.1:p.Gln1729Glu | |
| NM_001318827.2:c.4945C>G | NP_001305756.1:p.Gln1649Glu | |
| NM_001318829.2:c.4909C>G | NP_001305758.1:p.Gln1637Glu | |
| NM_001318831.2:c.4522C>G | NP_001305760.1:p.Gln1508Glu | |
| NM_001318832.2:c.5086C>G | NP_001305761.1:p.Gln1696Glu | |
| NM_001363528.2:c.5056C>G | NP_001350457.1:p.Gln1686Glu | |
| NM_021055.3:c.5125C>G | NP_066399.2:p.Gln1709Glu |