Linked Data
ClinVar Variation Id:
16499
ClinVar RCV Id:
RCV000017963
dbSNP Id:
rs121913076
PubMed:
PMID:7540117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014163A>C , CM000672.2:g.89014163A>C | GRCh38 |
| NC_000010.10:g.90773920A>C , CM000672.1:g.90773920A>C | GRCh37 |
| NC_000010.9:g.90763900A>C | NCBI36 |
| NG_009089.2:g.28633A>C , LRG_134:g.28633A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313771.10:n.1030A>C | ||
| ENST00000355740.8:c.*44A>C | ENSP00000347979.3:n.*44A>C | |
| ENST00000357339.7:c.658A>C | ENSP00000349896.2:p.Thr220Pro | |
| ENST00000371857.8:n.2266A>C | ||
| ENST00000460510.6:c.4A>C | ENSP00000512812.1:p.Thr2Pro | |
| ENST00000466081.6:n.2370A>C | ||
| ENST00000477270.6:c.766A>C | ENSP00000512813.1:p.Thr256Pro | |
| ENST00000479522.6:c.*150A>C | ENSP00000424113.1:n.*150A>C | |
| ENST00000484444.6:c.*162A>C | ENSP00000420975.1:n.*162A>C | |
| ENST00000488877.6:c.612A>C | ENSP00000425159.1:n.612A>C | |
| ENST00000492756.7:c.*150A>C | ENSP00000422453.1:n.*150A>C | |
| ENST00000494799.6:c.4A>C | ENSP00000512834.1:p.Thr2Pro | |
| ENST00000562983.3:c.4A>C | ENSP00000512845.1:p.Thr2Pro | |
| ENST00000612663.6:c.*123A>C | ENSP00000477997.3:n.*123A>C | |
| ENST00000640140.2:n.866A>C | ||
| ENST00000640250.2:n.220A>C | ||
| ENST00000640681.2:n.825A>C | ||
| ENST00000696723.1:n.4354A>C | ||
| ENST00000696741.1:n.2359A>C | ||
| ENST00000696742.1:n.2086A>C | ||
| ENST00000696743.1:n.3489A>C | ||
| ENST00000696744.1:n.760A>C | ||
| ENST00000696767.1:n.1055A>C | ||
| ENST00000696768.1:c.*44A>C | ENSP00000512859.1:n.*44A>C | |
| ENST00000696769.1:n.2410A>C | ||
| ENST00000696771.1:c.4A>C | ENSP00000512860.1:p.Thr2Pro | |
| ENST00000696772.1:n.2324A>C | ||
| ENST00000696773.1:n.2063A>C | ||
| ENST00000696774.1:n.5831A>C | ||
| ENST00000696776.1:c.814A>C | ENSP00000512861.1:p.Thr272Pro | |
| ENST00000696777.1:n.2129A>C | ||
| ENST00000696778.1:n.1157A>C | ||
| ENST00000696779.1:c.328A>C | ENSP00000512862.1:p.Thr110Pro | |
| ENST00000696780.1:c.751A>C | ENSP00000512863.1:p.Thr251Pro | |
| ENST00000696781.1:c.466A>C | ENSP00000512864.1:p.Thr156Pro | |
| ENST00000696782.1:c.*123A>C | ENSP00000512865.1:n.*123A>C | |
| ENST00000696783.1:n.2589A>C | ||
| ENST00000696992.1:n.1838A>C | ||
| ENST00000696995.1:n.4250A>C | ||
| ENST00000696996.1:n.2163A>C | ||
| ENST00000696997.1:c.*351A>C | ENSP00000513028.1:n.*351A>C | |
| ENST00000696998.1:n.1975A>C | ||
| ENST00000696999.1:c.4A>C | ENSP00000513029.1:p.Thr2Pro | |
| ENST00000697035.1:c.*54A>C | ENSP00000513059.1:n.*54A>C | |
| ENST00000697036.1:c.*137A>C | ENSP00000513060.1:n.*137A>C | |
| ENST00000697037.1:n.756A>C | ||
| ENST00000697093.1:n.2957A>C | ||
| ENST00000697094.1:n.3304A>C | ||
| ENST00000697095.1:c.*1922A>C | ENSP00000513104.1:n.*1922A>C | |
| ENST00000697096.1:n.1854A>C | ||
| ENST00000697097.1:c.4A>C | ENSP00000513105.1:p.Thr2Pro | |
| ENST00000562983.2:n.907A>C | ||
| ENST00000690268.1:c.802A>C | ENSP00000509810.1:p.Thr268Pro | |
| ENST00000355740.7:c.*47A>C | ENSP00000347979.3:n.*47A>C | |
| ENST00000612663.5:c.*123A>C | ENSP00000477997.3:n.*123A>C | |
| ENST00000640140.1:n.893A>C | ||
| ENST00000640250.1:n.220A>C | ||
| ENST00000640681.1:n.842A>C | ||
| ENST00000652046.1:c.721A>C MANE Select | ENSP00000498466.1:p.Thr241Pro | |
| ENST00000313771.9:n.1030A>C | ||
| ENST00000352159.8:c.*38A>C | ENSP00000345601.4:n.*38A>C | |
| ENST00000355279.2:c.696A>C | ENSP00000347426.2:n.696A>C | |
| ENST00000355740.6:c.721A>C | ENSP00000347979.2:p.Thr241Pro | |
| ENST00000357339.6:c.658A>C | ENSP00000349896.2:p.Thr220Pro | |
| ENST00000479522.5:c.*150A>C | ENSP00000424113.1:n.*150A>C | |
| ENST00000484444.5:c.*162A>C | ENSP00000420975.1:n.*162A>C | |
| ENST00000488877.5:c.*162A>C | ENSP00000425159.1:n.*162A>C | |
| ENST00000492756.5:c.549A>C | ENSP00000422453.1:n.549A>C | |
| ENST00000494410.5:c.*79A>C | ENSP00000423755.1:n.*79A>C | |
| ENST00000494799.5:n.628A>C | ||
| ENST00000612663.4:c.*68A>C | ENSP00000477997.2:n.*68A>C | |
| ENST00000615406.4:c.721A>C | ENSP00000484575.1:p.Thr241Pro | |
| ENST00000626542.2:c.719A>C | ENSP00000485876.1:p.Asp240Ala | |
| NM_000043.4:c.721A>C , LRG_134t1:c.721A>C | NP_000034.1:p.Thr241Pro | |
| NM_152871.2:c.658A>C | NP_690610.1:p.Thr220Pro | |
| NM_152872.2:c.*33A>C | NP_690611.1:n.*33A>C | |
| NR_028033.2:n.895A>C | ||
| NR_028034.2:n.757A>C | ||
| NR_028035.2:n.820A>C | ||
| NR_028036.2:n.958A>C | ||
| XM_006717819.2:c.802A>C | XP_006717882.1:p.Thr268Pro | |
| XM_011539764.1:c.883A>C | XP_011538066.1:p.Thr295Pro | |
| XM_011539765.1:c.820A>C | XP_011538067.1:p.Thr274Pro | |
| XM_011539766.1:c.802A>C | XP_011538068.1:p.Thr268Pro | |
| XM_011539767.1:c.766A>C | XP_011538069.1:p.Thr256Pro | |
| XR_945732.1:n.789A>C | ||
| XR_945733.1:n.726A>C | ||
| NM_000043.5:c.721A>C | NP_000034.1:p.Thr241Pro | |
| NM_001320619.1:c.*44A>C | NP_001307548.1:n.*44A>C | |
| NM_152871.3:c.658A>C | NP_690610.1:p.Thr220Pro | |
| NM_152872.3:c.*33A>C | NP_690611.1:n.*33A>C | |
| NR_028033.3:n.867A>C | ||
| NR_028034.3:n.729A>C | ||
| NR_028035.3:n.792A>C | ||
| NR_028036.3:n.930A>C | ||
| NR_135313.1:n.847A>C | ||
| NR_135314.1:n.1030A>C | ||
| NR_135315.1:n.783A>C | ||
| XM_006717819.3:c.802A>C | XP_006717882.1:p.Thr268Pro | |
| XM_011539764.2:c.883A>C | XP_011538066.1:p.Thr295Pro | |
| XM_011539765.2:c.820A>C | XP_011538067.1:p.Thr274Pro | |
| XM_011539766.2:c.802A>C | XP_011538068.1:p.Thr268Pro | |
| XM_011539767.3:c.766A>C | XP_011538069.1:p.Thr256Pro | |
| XR_945732.3:n.789A>C | ||
| XR_945733.2:n.726A>C | ||
| NM_000043.6:c.721A>C MANE Select | NP_000034.1:p.Thr241Pro | |
| NM_001320619.2:c.*44A>C | NP_001307548.1:n.*44A>C | |
| NM_152871.4:c.658A>C | NP_690610.1:p.Thr220Pro | |
| NM_152872.4:c.*33A>C | NP_690611.1:n.*33A>C | |
| NR_028033.4:n.628A>C | ||
| NR_028034.4:n.490A>C | ||
| NR_028035.4:n.553A>C | ||
| NR_028036.4:n.691A>C | ||
| NR_135313.2:n.608A>C | ||
| NR_135314.2:n.887A>C | ||
| NR_135315.2:n.640A>C |