Linked Data
ClinVar Variation Id:
16513
ClinVar RCV Id:
RCV000017977
dbSNP Id:
rs121913085
PubMed:
PMID:10200300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014182G>C , CM000672.2:g.89014182G>C | GRCh38 |
| NC_000010.10:g.90773939G>C , CM000672.1:g.90773939G>C | GRCh37 |
| NC_000010.9:g.90763919G>C | NCBI36 |
| NG_009089.2:g.28652G>C , LRG_134:g.28652G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1049G>C | ||
| ENST00000355740.8:c.*63G>C | ENSP00000347979.3:n.*63G>C | |
| ENST00000357339.7:c.677G>C | ENSP00000349896.2:p.Gly226Ala | |
| ENST00000371857.8:n.2285G>C | ||
| ENST00000460510.6:c.23G>C | ENSP00000512812.1:p.Gly8Ala | |
| ENST00000466081.6:n.2389G>C | ||
| ENST00000477270.6:c.785G>C | ENSP00000512813.1:p.Gly262Ala | |
| ENST00000479522.6:c.*169G>C | ENSP00000424113.1:n.*169G>C | |
| ENST00000484444.6:c.*181G>C | ENSP00000420975.1:n.*181G>C | |
| ENST00000488877.6:c.631G>C | ENSP00000425159.1:n.631G>C | |
| ENST00000492756.7:c.*169G>C | ENSP00000422453.1:n.*169G>C | |
| ENST00000494799.6:c.23G>C | ENSP00000512834.1:p.Gly8Ala | |
| ENST00000562983.3:c.23G>C | ENSP00000512845.1:p.Gly8Ala | |
| ENST00000612663.6:c.*142G>C | ENSP00000477997.3:n.*142G>C | |
| ENST00000640140.2:n.885G>C | ||
| ENST00000640250.2:n.239G>C | ||
| ENST00000640681.2:n.844G>C | ||
| ENST00000696723.1:n.4373G>C | ||
| ENST00000696741.1:n.2378G>C | ||
| ENST00000696742.1:n.2105G>C | ||
| ENST00000696743.1:n.3508G>C | ||
| ENST00000696744.1:n.779G>C | ||
| ENST00000696767.1:n.1074G>C | ||
| ENST00000696768.1:c.*63G>C | ENSP00000512859.1:n.*63G>C | |
| ENST00000696769.1:n.2429G>C | ||
| ENST00000696771.1:c.23G>C | ENSP00000512860.1:p.Gly8Ala | |
| ENST00000696772.1:n.2343G>C | ||
| ENST00000696773.1:n.2082G>C | ||
| ENST00000696774.1:n.5850G>C | ||
| ENST00000696776.1:c.833G>C | ENSP00000512861.1:p.Gly278Ala | |
| ENST00000696777.1:n.2148G>C | ||
| ENST00000696778.1:n.1176G>C | ||
| ENST00000696779.1:c.347G>C | ENSP00000512862.1:p.Gly116Ala | |
| ENST00000696780.1:c.770G>C | ENSP00000512863.1:p.Gly257Ala | |
| ENST00000696781.1:c.485G>C | ENSP00000512864.1:p.Gly162Ala | |
| ENST00000696782.1:c.*142G>C | ENSP00000512865.1:n.*142G>C | |
| ENST00000696783.1:n.2608G>C | ||
| ENST00000696992.1:n.1857G>C | ||
| ENST00000696995.1:n.4269G>C | ||
| ENST00000696996.1:n.2182G>C | ||
| ENST00000696997.1:c.*370G>C | ENSP00000513028.1:n.*370G>C | |
| ENST00000696998.1:n.1994G>C | ||
| ENST00000696999.1:c.23G>C | ENSP00000513029.1:p.Gly8Ala | |
| ENST00000697035.1:c.*73G>C | ENSP00000513059.1:n.*73G>C | |
| ENST00000697036.1:c.*156G>C | ENSP00000513060.1:n.*156G>C | |
| ENST00000697037.1:n.775G>C | ||
| ENST00000697093.1:n.2976G>C | ||
| ENST00000697094.1:n.3323G>C | ||
| ENST00000697095.1:c.*1941G>C | ENSP00000513104.1:n.*1941G>C | |
| ENST00000697096.1:n.1873G>C | ||
| ENST00000697097.1:c.23G>C | ENSP00000513105.1:p.Gly8Ala | |
| ENST00000562983.2:n.926G>C | ||
| ENST00000690268.1:c.821G>C | ENSP00000509810.1:p.Gly274Ala | |
| ENST00000355740.7:c.*66G>C | ENSP00000347979.3:n.*66G>C | |
| ENST00000612663.5:c.*142G>C | ENSP00000477997.3:n.*142G>C | |
| ENST00000640140.1:n.912G>C | ||
| ENST00000640250.1:n.239G>C | ||
| ENST00000640681.1:n.861G>C | ||
| ENST00000652046.1:c.740G>C MANE Select | ENSP00000498466.1:p.Gly247Ala | |
| ENST00000352159.8:c.*57G>C | ENSP00000345601.4:n.*57G>C | |
| ENST00000355279.2:c.715G>C | ENSP00000347426.2:n.715G>C | |
| ENST00000355740.6:c.740G>C | ENSP00000347979.2:p.Gly247Ala | |
| ENST00000357339.6:c.677G>C | ENSP00000349896.2:p.Gly226Ala | |
| ENST00000479522.5:c.*169G>C | ENSP00000424113.1:n.*169G>C | |
| ENST00000484444.5:c.*181G>C | ENSP00000420975.1:n.*181G>C | |
| ENST00000488877.5:c.*181G>C | ENSP00000425159.1:n.*181G>C | |
| ENST00000492756.5:c.568G>C | ENSP00000422453.1:n.568G>C | |
| ENST00000494410.5:c.*98G>C | ENSP00000423755.1:n.*98G>C | |
| ENST00000494799.5:n.647G>C | ||
| ENST00000612663.4:c.*87G>C | ENSP00000477997.2:n.*87G>C | |
| ENST00000615406.4:c.740G>C | ENSP00000484575.1:p.Gly247Ala | |
| NM_000043.4:c.740G>C , LRG_134t1:c.740G>C | NP_000034.1:p.Gly247Ala | |
| NM_152871.2:c.677G>C | NP_690610.1:p.Gly226Ala | |
| NM_152872.2:c.*52G>C | NP_690611.1:n.*52G>C | |
| NR_028033.2:n.914G>C | ||
| NR_028034.2:n.776G>C | ||
| NR_028035.2:n.839G>C | ||
| NR_028036.2:n.977G>C | ||
| XM_006717819.2:c.821G>C | XP_006717882.1:p.Gly274Ala | |
| XM_011539764.1:c.902G>C | XP_011538066.1:p.Gly301Ala | |
| XM_011539765.1:c.839G>C | XP_011538067.1:p.Gly280Ala | |
| XM_011539766.1:c.821G>C | XP_011538068.1:p.Gly274Ala | |
| XM_011539767.1:c.785G>C | XP_011538069.1:p.Gly262Ala | |
| XR_945732.1:n.808G>C | ||
| XR_945733.1:n.745G>C | ||
| NM_000043.5:c.740G>C | NP_000034.1:p.Gly247Ala | |
| NM_001320619.1:c.*63G>C | NP_001307548.1:n.*63G>C | |
| NM_152871.3:c.677G>C | NP_690610.1:p.Gly226Ala | |
| NM_152872.3:c.*52G>C | NP_690611.1:n.*52G>C | |
| NR_028033.3:n.886G>C | ||
| NR_028034.3:n.748G>C | ||
| NR_028035.3:n.811G>C | ||
| NR_028036.3:n.949G>C | ||
| NR_135313.1:n.866G>C | ||
| NR_135314.1:n.1049G>C | ||
| NR_135315.1:n.802G>C | ||
| XM_006717819.3:c.821G>C | XP_006717882.1:p.Gly274Ala | |
| XM_011539764.2:c.902G>C | XP_011538066.1:p.Gly301Ala | |
| XM_011539765.2:c.839G>C | XP_011538067.1:p.Gly280Ala | |
| XM_011539766.2:c.821G>C | XP_011538068.1:p.Gly274Ala | |
| XM_011539767.3:c.785G>C | XP_011538069.1:p.Gly262Ala | |
| XR_945732.3:n.808G>C | ||
| XR_945733.2:n.745G>C | ||
| NM_000043.6:c.740G>C MANE Select | NP_000034.1:p.Gly247Ala | |
| NM_001320619.2:c.*63G>C | NP_001307548.1:n.*63G>C | |
| NM_152871.4:c.677G>C | NP_690610.1:p.Gly226Ala | |
| NM_152872.4:c.*52G>C | NP_690611.1:n.*52G>C | |
| NR_028033.4:n.647G>C | ||
| NR_028034.4:n.509G>C | ||
| NR_028035.4:n.572G>C | ||
| NR_028036.4:n.710G>C | ||
| NR_135313.2:n.627G>C | ||
| NR_135314.2:n.906G>C | ||
| NR_135315.2:n.659G>C |