Linked Data
ClinVar Variation Id:
210992
dbSNP Id:
rs28362318
ExAC:
10:90768680 G / A
gnomAD v2:
10-90768680-G-A
gnomAD v3:
10-89008923-G-A
gnomAD v4:
10-89008923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89008923G>A , CM000672.2:g.89008923G>A | GRCh38 |
| NC_000010.10:g.90768680G>A , CM000672.1:g.90768680G>A | GRCh37 |
| NC_000010.9:g.90758660G>A | NCBI36 |
| NG_009089.2:g.23393G>A , LRG_134:g.23393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.678G>A | ||
| ENST00000355740.8:c.369G>A | ENSP00000347979.3:p.Gln123= | |
| ENST00000357339.7:c.369G>A | ENSP00000349896.2:p.Gln123= | |
| ENST00000371857.8:n.579G>A | ||
| ENST00000460510.6:c.-349G>A | ENSP00000512812.1:n.-349G>A | |
| ENST00000466081.6:n.503+1086G>A | ||
| ENST00000477270.6:c.414G>A | ENSP00000512813.1:p.Gln138= | |
| ENST00000479522.6:c.197-1616G>A | ENSP00000424113.1:n.197-1616G>A | |
| ENST00000484444.6:c.197-1616G>A | ENSP00000420975.1:n.197-1616G>A | |
| ENST00000488877.6:c.334+1086G>A | ENSP00000425159.1:n.334+1086G>A | |
| ENST00000492756.7:c.334+1086G>A | ENSP00000422453.1:n.334+1086G>A | |
| ENST00000494799.6:c.-274-1616G>A | ENSP00000512834.1:n.-274-1616G>A | |
| ENST00000562983.3:c.-349G>A | ENSP00000512845.1:n.-349G>A | |
| ENST00000612663.6:c.369G>A | ENSP00000477997.3:p.Gln123= | |
| ENST00000640140.2:n.514G>A | ||
| ENST00000640681.2:n.473G>A | ||
| ENST00000696723.1:n.4002G>A | ||
| ENST00000696741.1:n.672G>A | ||
| ENST00000696742.1:n.551G>A | ||
| ENST00000696743.1:n.541G>A | ||
| ENST00000696744.1:n.408G>A | ||
| ENST00000696767.1:n.551G>A | ||
| ENST00000696768.1:c.369G>A | ENSP00000512859.1:p.Gln123= | |
| ENST00000696769.1:n.723G>A | ||
| ENST00000696770.1:n.1603G>A | ||
| ENST00000696771.1:c.-286G>A | ENSP00000512860.1:n.-286G>A | |
| ENST00000696772.1:n.535G>A | ||
| ENST00000696773.1:n.528G>A | ||
| ENST00000696774.1:n.591G>A | ||
| ENST00000696775.1:n.644G>A | ||
| ENST00000696776.1:c.462G>A | ENSP00000512861.1:p.Gln154= | |
| ENST00000696777.1:n.516+1086G>A | ||
| ENST00000696778.1:n.551G>A | ||
| ENST00000696779.1:c.197-1616G>A | ENSP00000512862.1:n.197-1616G>A | |
| ENST00000696780.1:c.462G>A | ENSP00000512863.1:p.Gln154= | |
| ENST00000696781.1:c.334+1086G>A | ENSP00000512864.1:n.334+1086G>A | |
| ENST00000696782.1:c.369G>A | ENSP00000512865.1:p.Gln123= | |
| ENST00000696992.1:n.1486G>A | ||
| ENST00000696995.1:n.551G>A | ||
| ENST00000696996.1:n.550G>A | ||
| ENST00000696997.1:c.369G>A | ENSP00000513028.1:p.Gln123= | |
| ENST00000696998.1:n.363-1616G>A | ||
| ENST00000696999.1:c.-212+1086G>A | ENSP00000513029.1:n.-212+1086G>A | |
| ENST00000697035.1:c.369G>A | ENSP00000513059.1:p.Gln123= | |
| ENST00000697036.1:c.334+1086G>A | ENSP00000513060.1:n.334+1086G>A | |
| ENST00000697037.1:n.404G>A | ||
| ENST00000697093.1:n.593G>A | ||
| ENST00000697094.1:n.508G>A | ||
| ENST00000697095.1:c.*29G>A | ENSP00000513104.1:n.*29G>A | |
| ENST00000697096.1:n.425G>A | ||
| ENST00000697097.1:c.-349G>A | ENSP00000513105.1:n.-349G>A | |
| ENST00000562983.2:n.555G>A | ||
| ENST00000690268.1:c.450G>A | ENSP00000509810.1:p.Gln150= | |
| ENST00000355740.7:c.369G>A | ENSP00000347979.3:p.Gln123= | |
| ENST00000612663.5:c.369G>A | ENSP00000477997.3:p.Gln123= | |
| ENST00000640140.1:n.541G>A | ||
| ENST00000640681.1:n.490G>A | ||
| ENST00000652046.1:c.369G>A MANE Select | ENSP00000498466.1:p.Gln123= | |
| ENST00000313771.9:n.678G>A | ||
| ENST00000352159.8:c.369G>A | ENSP00000345601.4:p.Gln123= | |
| ENST00000355279.2:c.369G>A | ENSP00000347426.2:p.Gln123= | |
| ENST00000355740.6:c.369G>A | ENSP00000347979.2:p.Gln123= | |
| ENST00000357339.6:c.369G>A | ENSP00000349896.2:p.Gln123= | |
| ENST00000371857.7:n.535G>A | ||
| ENST00000460510.5:n.736G>A | ||
| ENST00000466081.5:n.503+1086G>A | ||
| ENST00000477270.5:n.532G>A | ||
| ENST00000479522.5:c.197-1616G>A | ENSP00000424113.1:n.197-1616G>A | |
| ENST00000484444.5:c.197-1616G>A | ENSP00000420975.1:n.197-1616G>A | |
| ENST00000487314.1:n.518G>A | ||
| ENST00000488877.5:c.334+1086G>A | ENSP00000425159.1:n.334+1086G>A | |
| ENST00000492756.5:c.334+1086G>A | ENSP00000422453.1:n.334+1086G>A | |
| ENST00000494410.5:c.334+1086G>A | ENSP00000423755.1:n.334+1086G>A | |
| ENST00000494799.5:n.351-1616G>A | ||
| ENST00000612663.4:c.369G>A | ENSP00000477997.2:p.Gln123= | |
| ENST00000615406.4:c.369G>A | ENSP00000484575.1:p.Gln123= | |
| ENST00000626542.2:c.369G>A | ENSP00000485876.1:p.Gln123= | |
| NM_000043.4:c.369G>A , LRG_134t1:c.369G>A | NP_000034.1:p.Gln123= | |
| NM_152871.2:c.369G>A | NP_690610.1:p.Gln123= | |
| NM_152872.2:c.369G>A | NP_690611.1:p.Gln123= | |
| NR_028033.2:n.680+1086G>A | ||
| NR_028034.2:n.543-1616G>A | ||
| NR_028035.2:n.543-1616G>A | ||
| NR_028036.2:n.680+1086G>A | ||
| XM_006717819.2:c.450G>A | XP_006717882.1:p.Gln150= | |
| XM_011539764.1:c.531G>A | XP_011538066.1:p.Gln177= | |
| XM_011539765.1:c.531G>A | XP_011538067.1:p.Gln177= | |
| XM_011539766.1:c.450G>A | XP_011538068.1:p.Gln150= | |
| XM_011539767.1:c.414G>A | XP_011538069.1:p.Gln138= | |
| XR_945732.1:n.511+1086G>A | ||
| XR_945733.1:n.511+1086G>A | ||
| NM_000043.5:c.369G>A | NP_000034.1:p.Gln123= | |
| NM_001320619.1:c.369G>A | NP_001307548.1:p.Gln123= | |
| NM_152871.3:c.369G>A | NP_690610.1:p.Gln123= | |
| NM_152872.3:c.369G>A | NP_690611.1:p.Gln123= | |
| NR_028033.3:n.652+1086G>A | ||
| NR_028034.3:n.515-1616G>A | ||
| NR_028035.3:n.515-1616G>A | ||
| NR_028036.3:n.652+1086G>A | ||
| NR_135313.1:n.652+1086G>A | ||
| NR_135314.1:n.678G>A | ||
| NR_135315.1:n.506-1616G>A | ||
| XM_006717819.3:c.450G>A | XP_006717882.1:p.Gln150= | |
| XM_011539764.2:c.531G>A | XP_011538066.1:p.Gln177= | |
| XM_011539765.2:c.531G>A | XP_011538067.1:p.Gln177= | |
| XM_011539766.2:c.450G>A | XP_011538068.1:p.Gln150= | |
| XM_011539767.3:c.414G>A | XP_011538069.1:p.Gln138= | |
| XR_945732.3:n.511+1086G>A | ||
| XR_945733.2:n.511+1086G>A | ||
| NM_000043.6:c.369G>A MANE Select | NP_000034.1:p.Gln123= | |
| NM_001320619.2:c.369G>A | NP_001307548.1:p.Gln123= | |
| NM_152871.4:c.369G>A | NP_690610.1:p.Gln123= | |
| NM_152872.4:c.369G>A | NP_690611.1:p.Gln123= | |
| NR_028033.4:n.413+1086G>A | ||
| NR_028034.4:n.276-1616G>A | ||
| NR_028035.4:n.276-1616G>A | ||
| NR_028036.4:n.413+1086G>A | ||
| NR_135313.2:n.413+1086G>A | ||
| NR_135314.2:n.535G>A | ||
| NR_135315.2:n.363-1616G>A |