Linked Data
ClinVar Variation Id:
1420522
dbSNP Id:
rs749875773
gnomAD v2:
16-2135269-G-T
gnomAD v3:
16-2085268-G-T
gnomAD v4:
16-2085268-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085268G>T , CM000678.2:g.2085268G>T | GRCh38 |
| NC_000016.9:g.2135269G>T , CM000678.1:g.2135269G>T | GRCh37 |
| NC_000016.8:g.2075270G>T | NCBI36 |
| NG_005895.1:g.40963G>T , LRG_487:g.40963G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2957G>T | ENSP00000455997.2:n.*2957G>T | |
| ENST00000642206.2:c.4455G>T | ENSP00000495146.2:p.Gln1485His | |
| ENST00000642365.2:c.4605G>T | ENSP00000495459.2:p.Gln1535His | |
| ENST00000644417.2:c.*4988G>T | ENSP00000493912.2:n.*4988G>T | |
| ENST00000646464.2:c.*7357G>T | ENSP00000496610.2:n.*7357G>T | |
| ENST00000219476.9:c.4608G>T MANE Select | ENSP00000219476.3:p.Gln1536His | |
| ENST00000350773.9:c.4539G>T | ENSP00000344383.4:p.Gln1513His | |
| ENST00000401874.7:c.4407G>T | ENSP00000384468.2:p.Gln1469His | |
| ENST00000568454.6:c.4440G>T | ENSP00000454487.1:p.Gln1480His | |
| ENST00000569110.2:c.831G>T | ||
| ENST00000569930.2:n.2490G>T | ||
| ENST00000642365.1:c.3262G>T | ||
| ENST00000642561.1:c.4479G>T | ENSP00000495099.1:p.Gln1493His | |
| ENST00000642728.1:n.790G>T | ||
| ENST00000642791.1:n.205G>T | ||
| ENST00000642797.1:c.4410G>T | ENSP00000493846.1:p.Gln1470His | |
| ENST00000642936.1:c.4476G>T | ENSP00000494514.1:p.Gln1492His | |
| ENST00000643088.1:c.4401G>T | ENSP00000494747.1:p.Gln1467His | |
| ENST00000643177.1:n.622G>T | ||
| ENST00000643426.1:n.2256G>T | ||
| ENST00000643946.1:c.4533G>T | ENSP00000495927.1:p.Gln1511His | |
| ENST00000644043.1:c.4479G>T | ENSP00000496262.1:p.Gln1493His | |
| ENST00000644278.1:n.90G>T | ||
| ENST00000644329.1:c.4407G>T | ENSP00000496611.1:p.Gln1469His | |
| ENST00000644335.1:c.4404G>T | ENSP00000496317.1:p.Gln1468His | |
| ENST00000644399.1:c.4529G>T | ||
| ENST00000645024.1:n.2692G>T | ||
| ENST00000646388.1:c.4602G>T | ENSP00000495921.1:p.Gln1534His | |
| ENST00000646634.1:n.3423G>T | ||
| ENST00000646674.1:n.1860G>T | ||
| ENST00000647042.1:n.1831G>T | ||
| ENST00000647180.1:n.1721G>T | ||
| ENST00000219476.7:c.4608G>T | ENSP00000219476.3:p.Gln1536His | |
| ENST00000350773.8:c.4539G>T | ENSP00000344383.4:p.Gln1513His | |
| ENST00000382538.10:c.4263G>T | ENSP00000371978.6:p.Gln1421His | |
| ENST00000401874.6:c.4407G>T | ENSP00000384468.2:p.Gln1469His | |
| ENST00000439117.6:c.*3775G>T | ENSP00000406980.2:n.*3775G>T | |
| ENST00000439673.6:c.4299G>T | ENSP00000399232.2:p.Gln1433His | |
| ENST00000497886.5:n.2366G>T | ||
| ENST00000568454.5:c.4440G>T | ENSP00000454487.1:p.Gln1480His | |
| ENST00000569110.1:c.790G>T | ||
| ENST00000569930.1:n.1723G>T | ||
| NM_000548.3:c.4608G>T , LRG_487t1:c.4608G>T | NP_000539.2:p.Gln1536His | |
| NM_001077183.1:c.4407G>T | NP_001070651.1:p.Gln1469His | |
| NM_001114382.1:c.4539G>T | NP_001107854.1:p.Gln1513His | |
| XM_005255529.3:c.4479G>T | XP_005255586.2:p.Gln1493His | |
| XM_005255531.3:c.4410G>T | XP_005255588.2:p.Gln1470His | |
| XM_011522636.1:c.4662G>T | XP_011520938.1:p.Gln1554His | |
| XM_011522637.1:c.4659G>T | XP_011520939.1:p.Gln1553His | |
| XM_011522638.1:c.4551G>T | XP_011520940.1:p.Gln1517His | |
| XM_011522639.1:c.4533G>T | XP_011520941.1:p.Gln1511His | |
| XM_011522640.1:c.4530G>T | XP_011520942.1:p.Gln1510His | |
| XM_011522641.1:c.4299G>T | XP_011520943.1:p.Gln1433His | |
| NM_000548.4:c.4608G>T | NP_000539.2:p.Gln1536His | |
| NM_001077183.2:c.4407G>T | NP_001070651.1:p.Gln1469His | |
| NM_001114382.2:c.4539G>T | NP_001107854.1:p.Gln1513His | |
| NM_001318827.1:c.4299G>T | NP_001305756.1:p.Gln1433His | |
| NM_001318829.1:c.4263G>T | NP_001305758.1:p.Gln1421His | |
| NM_001318831.1:c.3876G>T | NP_001305760.1:p.Gln1292His | |
| NM_001318832.1:c.4440G>T | NP_001305761.1:p.Gln1480His | |
| NM_001363528.1:c.4410G>T | NP_001350457.1:p.Gln1470His | |
| NM_021055.2:c.4479G>T | NP_066399.2:p.Gln1493His | |
| XM_005255531.4:c.4410G>T | XP_005255588.2:p.Gln1470His | |
| XM_011522636.2:c.4662G>T | XP_011520938.1:p.Gln1554His | |
| XM_011522637.2:c.4659G>T | XP_011520939.1:p.Gln1553His | |
| XM_011522638.2:c.4824G>T | XP_011520940.2:p.Gln1608His | |
| XM_011522639.2:c.4533G>T | XP_011520941.1:p.Gln1511His | |
| XM_011522640.2:c.4530G>T | XP_011520942.1:p.Gln1510His | |
| XM_017023615.1:c.4605G>T | XP_016879104.1:p.Gln1535His | |
| XM_017023616.1:c.4476G>T | XP_016879105.1:p.Gln1492His | |
| XM_017023617.1:c.4572G>T | XP_016879106.1:p.Gln1524His | |
| XM_017023618.1:c.3318G>T | XP_016879107.1:p.Gln1106His | |
| XM_024450413.1:c.4407G>T | XP_024306181.1:p.Gln1469His | |
| NM_000548.5:c.4608G>T MANE Select | NP_000539.2:p.Gln1536His | |
| NM_001370404.1:c.4476G>T | NP_001357333.1:p.Gln1492His | |
| NM_001370405.1:c.4479G>T | NP_001357334.1:p.Gln1493His | |
| NM_001077183.3:c.4407G>T | NP_001070651.1:p.Gln1469His | |
| NM_001114382.3:c.4539G>T | NP_001107854.1:p.Gln1513His | |
| NM_001318827.2:c.4299G>T | NP_001305756.1:p.Gln1433His | |
| NM_001318829.2:c.4263G>T | NP_001305758.1:p.Gln1421His | |
| NM_001318831.2:c.3876G>T | NP_001305760.1:p.Gln1292His | |
| NM_001318832.2:c.4440G>T | NP_001305761.1:p.Gln1480His | |
| NM_001363528.2:c.4410G>T | NP_001350457.1:p.Gln1470His | |
| NM_021055.3:c.4479G>T | NP_066399.2:p.Gln1493His |