Linked Data
ClinVar Variation Id:
2882532
ClinVar RCV Id:
RCV003633289
dbSNP Id:
rs1848671815
gnomAD v4:
10-89014210-A-G
MyVariant Identifiers:
chr10:g.90773967A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014210A>G , CM000672.2:g.89014210A>G | GRCh38 |
| NC_000010.10:g.90773967A>G , CM000672.1:g.90773967A>G | GRCh37 |
| NC_000010.9:g.90763947A>G | NCBI36 |
| NG_009089.2:g.28680A>G , LRG_134:g.28680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1077A>G | ||
| ENST00000355740.8:c.*91A>G | ENSP00000347979.3:n.*91A>G | |
| ENST00000357339.7:c.705A>G | ENSP00000349896.2:p.Glu235= | |
| ENST00000371857.8:n.2313A>G | ||
| ENST00000460510.6:c.51A>G | ENSP00000512812.1:p.Glu17= | |
| ENST00000466081.6:n.2417A>G | ||
| ENST00000477270.6:c.813A>G | ENSP00000512813.1:p.Glu271= | |
| ENST00000479522.6:c.*197A>G | ENSP00000424113.1:n.*197A>G | |
| ENST00000484444.6:c.*209A>G | ENSP00000420975.1:n.*209A>G | |
| ENST00000488877.6:c.659A>G | ENSP00000425159.1:n.659A>G | |
| ENST00000492756.7:c.*197A>G | ENSP00000422453.1:n.*197A>G | |
| ENST00000494799.6:c.51A>G | ENSP00000512834.1:p.Glu17= | |
| ENST00000562983.3:c.51A>G | ENSP00000512845.1:p.Glu17= | |
| ENST00000612663.6:c.*170A>G | ENSP00000477997.3:n.*170A>G | |
| ENST00000640140.2:n.913A>G | ||
| ENST00000640250.2:n.267A>G | ||
| ENST00000640681.2:n.872A>G | ||
| ENST00000696723.1:n.4401A>G | ||
| ENST00000696741.1:n.2406A>G | ||
| ENST00000696742.1:n.2133A>G | ||
| ENST00000696743.1:n.3536A>G | ||
| ENST00000696744.1:n.807A>G | ||
| ENST00000696767.1:n.1102A>G | ||
| ENST00000696768.1:c.*91A>G | ENSP00000512859.1:n.*91A>G | |
| ENST00000696769.1:n.2457A>G | ||
| ENST00000696771.1:c.51A>G | ENSP00000512860.1:p.Glu17= | |
| ENST00000696772.1:n.2371A>G | ||
| ENST00000696773.1:n.2110A>G | ||
| ENST00000696774.1:n.5878A>G | ||
| ENST00000696776.1:c.861A>G | ENSP00000512861.1:p.Glu287= | |
| ENST00000696777.1:n.2176A>G | ||
| ENST00000696778.1:n.1204A>G | ||
| ENST00000696779.1:c.375A>G | ENSP00000512862.1:p.Glu125= | |
| ENST00000696780.1:c.798A>G | ENSP00000512863.1:p.Glu266= | |
| ENST00000696781.1:c.513A>G | ENSP00000512864.1:p.Glu171= | |
| ENST00000696782.1:c.*170A>G | ENSP00000512865.1:n.*170A>G | |
| ENST00000696783.1:n.2636A>G | ||
| ENST00000696992.1:n.1885A>G | ||
| ENST00000696995.1:n.4297A>G | ||
| ENST00000696996.1:n.2210A>G | ||
| ENST00000696997.1:c.*398A>G | ENSP00000513028.1:n.*398A>G | |
| ENST00000696998.1:n.2022A>G | ||
| ENST00000696999.1:c.51A>G | ENSP00000513029.1:p.Glu17= | |
| ENST00000697035.1:c.*101A>G | ENSP00000513059.1:n.*101A>G | |
| ENST00000697036.1:c.*184A>G | ENSP00000513060.1:n.*184A>G | |
| ENST00000697037.1:n.803A>G | ||
| ENST00000697093.1:n.3004A>G | ||
| ENST00000697094.1:n.3351A>G | ||
| ENST00000697095.1:c.*1969A>G | ENSP00000513104.1:n.*1969A>G | |
| ENST00000697096.1:n.1901A>G | ||
| ENST00000697097.1:c.51A>G | ENSP00000513105.1:p.Glu17= | |
| ENST00000562983.2:n.954A>G | ||
| ENST00000690268.1:c.849A>G | ENSP00000509810.1:p.Glu283= | |
| ENST00000355740.7:c.*94A>G | ENSP00000347979.3:n.*94A>G | |
| ENST00000612663.5:c.*170A>G | ENSP00000477997.3:n.*170A>G | |
| ENST00000640140.1:n.940A>G | ||
| ENST00000640250.1:n.267A>G | ||
| ENST00000640681.1:n.889A>G | ||
| ENST00000652046.1:c.768A>G MANE Select | ENSP00000498466.1:p.Glu256= | |
| ENST00000352159.8:c.*85A>G | ENSP00000345601.4:n.*85A>G | |
| ENST00000355279.2:c.743A>G | ENSP00000347426.2:n.743A>G | |
| ENST00000355740.6:c.768A>G | ENSP00000347979.2:p.Glu256= | |
| ENST00000357339.6:c.705A>G | ENSP00000349896.2:p.Glu235= | |
| ENST00000479522.5:c.*197A>G | ENSP00000424113.1:n.*197A>G | |
| ENST00000484444.5:c.*209A>G | ENSP00000420975.1:n.*209A>G | |
| ENST00000488877.5:c.*209A>G | ENSP00000425159.1:n.*209A>G | |
| ENST00000492756.5:c.596A>G | ENSP00000422453.1:n.596A>G | |
| ENST00000494410.5:c.*126A>G | ENSP00000423755.1:n.*126A>G | |
| ENST00000494799.5:n.675A>G | ||
| ENST00000612663.4:c.*115A>G | ENSP00000477997.2:n.*115A>G | |
| NM_000043.4:c.768A>G , LRG_134t1:c.768A>G | NP_000034.1:p.Glu256= | |
| NM_152871.2:c.705A>G | NP_690610.1:p.Glu235= | |
| NM_152872.2:c.*80A>G | NP_690611.1:n.*80A>G | |
| NR_028033.2:n.942A>G | ||
| NR_028034.2:n.804A>G | ||
| NR_028035.2:n.867A>G | ||
| NR_028036.2:n.1005A>G | ||
| XM_006717819.2:c.849A>G | XP_006717882.1:p.Glu283= | |
| XM_011539764.1:c.930A>G | XP_011538066.1:p.Glu310= | |
| XM_011539765.1:c.867A>G | XP_011538067.1:p.Glu289= | |
| XM_011539766.1:c.849A>G | XP_011538068.1:p.Glu283= | |
| XM_011539767.1:c.813A>G | XP_011538069.1:p.Glu271= | |
| XR_945732.1:n.836A>G | ||
| XR_945733.1:n.773A>G | ||
| NM_000043.5:c.768A>G | NP_000034.1:p.Glu256= | |
| NM_001320619.1:c.*91A>G | NP_001307548.1:n.*91A>G | |
| NM_152871.3:c.705A>G | NP_690610.1:p.Glu235= | |
| NM_152872.3:c.*80A>G | NP_690611.1:n.*80A>G | |
| NR_028033.3:n.914A>G | ||
| NR_028034.3:n.776A>G | ||
| NR_028035.3:n.839A>G | ||
| NR_028036.3:n.977A>G | ||
| NR_135313.1:n.894A>G | ||
| NR_135314.1:n.1077A>G | ||
| NR_135315.1:n.830A>G | ||
| XM_006717819.3:c.849A>G | XP_006717882.1:p.Glu283= | |
| XM_011539764.2:c.930A>G | XP_011538066.1:p.Glu310= | |
| XM_011539765.2:c.867A>G | XP_011538067.1:p.Glu289= | |
| XM_011539766.2:c.849A>G | XP_011538068.1:p.Glu283= | |
| XM_011539767.3:c.813A>G | XP_011538069.1:p.Glu271= | |
| XR_945732.3:n.836A>G | ||
| XR_945733.2:n.773A>G | ||
| NM_000043.6:c.768A>G MANE Select | NP_000034.1:p.Glu256= | |
| NM_001320619.2:c.*91A>G | NP_001307548.1:n.*91A>G | |
| NM_152871.4:c.705A>G | NP_690610.1:p.Glu235= | |
| NM_152872.4:c.*80A>G | NP_690611.1:n.*80A>G | |
| NR_028033.4:n.675A>G | ||
| NR_028034.4:n.537A>G | ||
| NR_028035.4:n.600A>G | ||
| NR_028036.4:n.738A>G | ||
| NR_135313.2:n.655A>G | ||
| NR_135314.2:n.934A>G | ||
| NR_135315.2:n.687A>G |