Linked Data
ClinVar Variation Id:
301531
dbSNP Id:
rs377337130
ExAC:
10:90774066 A / C
gnomAD v2:
10-90774066-A-C
gnomAD v3:
10-89014309-A-C
gnomAD v4:
10-89014309-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014309A>C , CM000672.2:g.89014309A>C | GRCh38 |
| NC_000010.10:g.90774066A>C , CM000672.1:g.90774066A>C | GRCh37 |
| NC_000010.9:g.90764046A>C | NCBI36 |
| NG_009089.2:g.28779A>C , LRG_134:g.28779A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1176A>C | ||
| ENST00000355740.8:c.*190A>C | ENSP00000347979.3:n.*190A>C | |
| ENST00000357339.7:c.804A>C | ENSP00000349896.2:p.Glu268Asp | |
| ENST00000371857.8:n.2412A>C | ||
| ENST00000460510.6:c.150A>C | ENSP00000512812.1:p.Glu50Asp | |
| ENST00000466081.6:n.2516A>C | ||
| ENST00000477270.6:c.912A>C | ENSP00000512813.1:p.Glu304Asp | |
| ENST00000479522.6:c.*296A>C | ENSP00000424113.1:n.*296A>C | |
| ENST00000484444.6:c.*308A>C | ENSP00000420975.1:n.*308A>C | |
| ENST00000488877.6:c.758A>C | ENSP00000425159.1:n.758A>C | |
| ENST00000492756.7:c.*296A>C | ENSP00000422453.1:n.*296A>C | |
| ENST00000494799.6:c.150A>C | ENSP00000512834.1:p.Glu50Asp | |
| ENST00000562983.3:c.150A>C | ENSP00000512845.1:p.Glu50Asp | |
| ENST00000612663.6:c.*269A>C | ENSP00000477997.3:n.*269A>C | |
| ENST00000640140.2:n.1012A>C | ||
| ENST00000640250.2:n.366A>C | ||
| ENST00000640681.2:n.971A>C | ||
| ENST00000696723.1:n.4500A>C | ||
| ENST00000696741.1:n.2505A>C | ||
| ENST00000696742.1:n.2232A>C | ||
| ENST00000696743.1:n.3635A>C | ||
| ENST00000696744.1:n.906A>C | ||
| ENST00000696767.1:n.1201A>C | ||
| ENST00000696768.1:c.*190A>C | ENSP00000512859.1:n.*190A>C | |
| ENST00000696769.1:n.2556A>C | ||
| ENST00000696771.1:c.150A>C | ENSP00000512860.1:p.Glu50Asp | |
| ENST00000696772.1:n.2470A>C | ||
| ENST00000696773.1:n.2209A>C | ||
| ENST00000696774.1:n.5977A>C | ||
| ENST00000696776.1:c.960A>C | ENSP00000512861.1:p.Glu320Asp | |
| ENST00000696777.1:n.2275A>C | ||
| ENST00000696778.1:n.1303A>C | ||
| ENST00000696779.1:c.474A>C | ENSP00000512862.1:p.Glu158Asp | |
| ENST00000696780.1:c.897A>C | ENSP00000512863.1:p.Glu299Asp | |
| ENST00000696781.1:c.612A>C | ENSP00000512864.1:p.Glu204Asp | |
| ENST00000696782.1:c.*269A>C | ENSP00000512865.1:n.*269A>C | |
| ENST00000696783.1:n.2735A>C | ||
| ENST00000696992.1:n.1984A>C | ||
| ENST00000696995.1:n.4396A>C | ||
| ENST00000696996.1:n.2309A>C | ||
| ENST00000696997.1:c.*497A>C | ENSP00000513028.1:n.*497A>C | |
| ENST00000696998.1:n.2121A>C | ||
| ENST00000696999.1:c.150A>C | ENSP00000513029.1:p.Glu50Asp | |
| ENST00000697036.1:c.*283A>C | ENSP00000513060.1:n.*283A>C | |
| ENST00000697037.1:n.902A>C | ||
| ENST00000697093.1:n.3103A>C | ||
| ENST00000697094.1:n.3450A>C | ||
| ENST00000697095.1:c.*2068A>C | ENSP00000513104.1:n.*2068A>C | |
| ENST00000697096.1:n.2000A>C | ||
| ENST00000697097.1:c.150A>C | ENSP00000513105.1:p.Glu50Asp | |
| ENST00000562983.2:n.1053A>C | ||
| ENST00000690268.1:c.948A>C | ENSP00000509810.1:p.Glu316Asp | |
| ENST00000355740.7:c.*193A>C | ENSP00000347979.3:n.*193A>C | |
| ENST00000612663.5:c.*269A>C | ENSP00000477997.3:n.*269A>C | |
| ENST00000640140.1:n.1039A>C | ||
| ENST00000640250.1:n.366A>C | ||
| ENST00000640681.1:n.988A>C | ||
| ENST00000652046.1:c.867A>C MANE Select | ENSP00000498466.1:p.Glu289Asp | |
| ENST00000352159.8:c.*184A>C | ENSP00000345601.4:n.*184A>C | |
| ENST00000355279.2:c.842A>C | ENSP00000347426.2:n.842A>C | |
| ENST00000355740.6:c.867A>C | ENSP00000347979.2:p.Glu289Asp | |
| ENST00000357339.6:c.804A>C | ENSP00000349896.2:p.Glu268Asp | |
| ENST00000479522.5:c.*296A>C | ENSP00000424113.1:n.*296A>C | |
| ENST00000484444.5:c.*308A>C | ENSP00000420975.1:n.*308A>C | |
| ENST00000488877.5:c.*308A>C | ENSP00000425159.1:n.*308A>C | |
| ENST00000492756.5:c.695A>C | ENSP00000422453.1:n.695A>C | |
| ENST00000494410.5:c.*225A>C | ENSP00000423755.1:n.*225A>C | |
| ENST00000612663.4:c.*214A>C | ENSP00000477997.2:n.*214A>C | |
| NM_000043.4:c.867A>C , LRG_134t1:c.867A>C | NP_000034.1:p.Glu289Asp | |
| NM_152871.2:c.804A>C | NP_690610.1:p.Glu268Asp | |
| NM_152872.2:c.*179A>C | NP_690611.1:n.*179A>C | |
| NR_028033.2:n.1041A>C | ||
| NR_028034.2:n.903A>C | ||
| NR_028035.2:n.966A>C | ||
| NR_028036.2:n.1104A>C | ||
| XM_006717819.2:c.948A>C | XP_006717882.1:p.Glu316Asp | |
| XM_011539764.1:c.1029A>C | XP_011538066.1:p.Glu343Asp | |
| XM_011539765.1:c.966A>C | XP_011538067.1:p.Glu322Asp | |
| XM_011539766.1:c.948A>C | XP_011538068.1:p.Glu316Asp | |
| XM_011539767.1:c.912A>C | XP_011538069.1:p.Glu304Asp | |
| XR_945732.1:n.935A>C | ||
| XR_945733.1:n.872A>C | ||
| NM_000043.5:c.867A>C | NP_000034.1:p.Glu289Asp | |
| NM_001320619.1:c.*190A>C | NP_001307548.1:n.*190A>C | |
| NM_152871.3:c.804A>C | NP_690610.1:p.Glu268Asp | |
| NM_152872.3:c.*179A>C | NP_690611.1:n.*179A>C | |
| NR_028033.3:n.1013A>C | ||
| NR_028034.3:n.875A>C | ||
| NR_028035.3:n.938A>C | ||
| NR_028036.3:n.1076A>C | ||
| NR_135313.1:n.993A>C | ||
| NR_135314.1:n.1176A>C | ||
| NR_135315.1:n.929A>C | ||
| XM_006717819.3:c.948A>C | XP_006717882.1:p.Glu316Asp | |
| XM_011539764.2:c.1029A>C | XP_011538066.1:p.Glu343Asp | |
| XM_011539765.2:c.966A>C | XP_011538067.1:p.Glu322Asp | |
| XM_011539766.2:c.948A>C | XP_011538068.1:p.Glu316Asp | |
| XM_011539767.3:c.912A>C | XP_011538069.1:p.Glu304Asp | |
| XR_945732.3:n.935A>C | ||
| XR_945733.2:n.872A>C | ||
| NM_000043.6:c.867A>C MANE Select | NP_000034.1:p.Glu289Asp | |
| NM_001320619.2:c.*190A>C | NP_001307548.1:n.*190A>C | |
| NM_152871.4:c.804A>C | NP_690610.1:p.Glu268Asp | |
| NM_152872.4:c.*179A>C | NP_690611.1:n.*179A>C | |
| NR_028033.4:n.774A>C | ||
| NR_028034.4:n.636A>C | ||
| NR_028035.4:n.699A>C | ||
| NR_028036.4:n.837A>C | ||
| NR_135313.2:n.754A>C | ||
| NR_135314.2:n.1033A>C | ||
| NR_135315.2:n.786A>C |