Linked Data
ClinVar Variation Id:
134374
dbSNP Id:
rs56006128
ExAC:
10:90771767 G / A
gnomAD v2:
10-90771767-G-A
gnomAD v3:
10-89012010-G-A
gnomAD v4:
10-89012010-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89012010G>A , CM000672.2:g.89012010G>A | GRCh38 |
| NC_000010.10:g.90771767G>A , CM000672.1:g.90771767G>A | GRCh37 |
| NC_000010.9:g.90761747G>A | NCBI36 |
| NG_009089.2:g.26480G>A , LRG_134:g.26480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.889G>A | ||
| ENST00000355740.8:c.568+1195G>A | ENSP00000347979.3:n.568+1195G>A | |
| ENST00000357339.7:c.517G>A | ENSP00000349896.2:p.Glu173Lys | |
| ENST00000371857.8:n.2125G>A | ||
| ENST00000460510.6:c.-138G>A | ENSP00000512812.1:n.-138G>A | |
| ENST00000466081.6:n.1975G>A | ||
| ENST00000477270.6:c.625G>A | ENSP00000512813.1:p.Glu209Lys | |
| ENST00000479522.6:c.*9G>A | ENSP00000424113.1:n.*9G>A | |
| ENST00000484444.6:c.*21G>A | ENSP00000420975.1:n.*21G>A | |
| ENST00000488877.6:c.471G>A | ENSP00000425159.1:n.471G>A | |
| ENST00000492756.7:c.*9G>A | ENSP00000422453.1:n.*9G>A | |
| ENST00000494799.6:c.-138G>A | ENSP00000512834.1:n.-138G>A | |
| ENST00000562983.3:c.-138G>A | ENSP00000512845.1:n.-138G>A | |
| ENST00000612663.6:c.580G>A | ENSP00000477997.3:p.Glu194Lys | |
| ENST00000640140.2:n.725G>A | ||
| ENST00000640681.2:n.684G>A | ||
| ENST00000696723.1:n.4213G>A | ||
| ENST00000696741.1:n.2218G>A | ||
| ENST00000696742.1:n.1945G>A | ||
| ENST00000696743.1:n.2087G>A | ||
| ENST00000696744.1:n.619G>A | ||
| ENST00000696767.1:n.914G>A | ||
| ENST00000696768.1:c.506-1333G>A | ENSP00000512859.1:n.506-1333G>A | |
| ENST00000696769.1:n.2269G>A | ||
| ENST00000696770.1:n.4690G>A | ||
| ENST00000696771.1:c.-138G>A | ENSP00000512860.1:n.-138G>A | |
| ENST00000696772.1:n.1929G>A | ||
| ENST00000696773.1:n.1922G>A | ||
| ENST00000696774.1:n.3678G>A | ||
| ENST00000696776.1:c.673G>A | ENSP00000512861.1:p.Glu225Lys | |
| ENST00000696777.1:n.1988G>A | ||
| ENST00000696778.1:n.762G>A | ||
| ENST00000696779.1:c.259-1333G>A | ENSP00000512862.1:n.259-1333G>A | |
| ENST00000696780.1:c.610G>A | ENSP00000512863.1:p.Glu204Lys | |
| ENST00000696781.1:c.397-1333G>A | ENSP00000512864.1:n.397-1333G>A | |
| ENST00000696782.1:c.517G>A | ENSP00000512865.1:p.Glu173Lys | |
| ENST00000696783.1:n.2448G>A | ||
| ENST00000696992.1:n.1697G>A | ||
| ENST00000696995.1:n.2097G>A | ||
| ENST00000696996.1:n.761G>A | ||
| ENST00000696997.1:c.*210G>A | ENSP00000513028.1:n.*210G>A | |
| ENST00000696998.1:n.1834G>A | ||
| ENST00000696999.1:c.-138G>A | ENSP00000513029.1:n.-138G>A | |
| ENST00000697035.1:c.580G>A | ENSP00000513059.1:p.Glu194Lys | |
| ENST00000697036.1:c.*21G>A | ENSP00000513060.1:n.*21G>A | |
| ENST00000697037.1:n.615G>A | ||
| ENST00000697093.1:n.804G>A | ||
| ENST00000697094.1:n.1902G>A | ||
| ENST00000697095.1:c.*1781G>A | ENSP00000513104.1:n.*1781G>A | |
| ENST00000697096.1:n.1713G>A | ||
| ENST00000697097.1:c.-138G>A | ENSP00000513105.1:n.-138G>A | |
| ENST00000562983.2:n.766G>A | ||
| ENST00000690268.1:c.661G>A | ENSP00000509810.1:p.Glu221Lys | |
| ENST00000355740.7:c.568+1195G>A | ENSP00000347979.3:n.568+1195G>A | |
| ENST00000612663.5:c.580G>A | ENSP00000477997.3:p.Glu194Lys | |
| ENST00000640140.1:n.752G>A | ||
| ENST00000640681.1:n.701G>A | ||
| ENST00000652046.1:c.580G>A MANE Select | ENSP00000498466.1:p.Glu194Lys | |
| ENST00000313771.9:n.889G>A | ||
| ENST00000352159.8:c.580G>A | ENSP00000345601.4:p.Glu194Lys | |
| ENST00000355279.2:c.580G>A | ENSP00000347426.2:p.Glu194Lys | |
| ENST00000355740.6:c.580G>A | ENSP00000347979.2:p.Glu194Lys | |
| ENST00000357339.6:c.517G>A | ENSP00000349896.2:p.Glu173Lys | |
| ENST00000479522.5:c.*9G>A | ENSP00000424113.1:n.*9G>A | |
| ENST00000484444.5:c.*21G>A | ENSP00000420975.1:n.*21G>A | |
| ENST00000487314.1:n.729G>A | ||
| ENST00000488877.5:c.*21G>A | ENSP00000425159.1:n.*21G>A | |
| ENST00000492756.5:c.408G>A | ENSP00000422453.1:n.408G>A | |
| ENST00000494410.5:c.*9+1195G>A | ENSP00000423755.1:n.*9+1195G>A | |
| ENST00000494799.5:n.487G>A | ||
| ENST00000612663.4:c.580G>A | ENSP00000477997.2:p.Glu194Lys | |
| ENST00000615406.4:c.580G>A | ENSP00000484575.1:p.Glu194Lys | |
| ENST00000626542.2:c.580G>A | ENSP00000485876.1:p.Glu194Lys | |
| NM_000043.4:c.580G>A , LRG_134t1:c.580G>A | NP_000034.1:p.Glu194Lys | |
| NM_152871.2:c.517G>A | NP_690610.1:p.Glu173Lys | |
| NM_152872.2:c.580G>A | NP_690611.1:p.Glu194Lys | |
| NR_028033.2:n.754G>A | ||
| NR_028034.2:n.616G>A | ||
| NR_028035.2:n.679G>A | ||
| NR_028036.2:n.817G>A | ||
| XM_006717819.2:c.661G>A | XP_006717882.1:p.Glu221Lys | |
| XM_011539764.1:c.742G>A | XP_011538066.1:p.Glu248Lys | |
| XM_011539765.1:c.679G>A | XP_011538067.1:p.Glu227Lys | |
| XM_011539766.1:c.661G>A | XP_011538068.1:p.Glu221Lys | |
| XM_011539767.1:c.625G>A | XP_011538069.1:p.Glu209Lys | |
| XR_945732.1:n.648G>A | ||
| XR_945733.1:n.585G>A | ||
| NM_000043.5:c.580G>A | NP_000034.1:p.Glu194Lys | |
| NM_001320619.1:c.568+1195G>A | NP_001307548.1:n.568+1195G>A | |
| NM_152871.3:c.517G>A | NP_690610.1:p.Glu173Lys | |
| NM_152872.3:c.580G>A | NP_690611.1:p.Glu194Lys | |
| NR_028033.3:n.726G>A | ||
| NR_028034.3:n.588G>A | ||
| NR_028035.3:n.651G>A | ||
| NR_028036.3:n.789G>A | ||
| NR_135313.1:n.777+1195G>A | ||
| NR_135314.1:n.889G>A | ||
| NR_135315.1:n.642G>A | ||
| XM_006717819.3:c.661G>A | XP_006717882.1:p.Glu221Lys | |
| XM_011539764.2:c.742G>A | XP_011538066.1:p.Glu248Lys | |
| XM_011539765.2:c.679G>A | XP_011538067.1:p.Glu227Lys | |
| XM_011539766.2:c.661G>A | XP_011538068.1:p.Glu221Lys | |
| XM_011539767.3:c.625G>A | XP_011538069.1:p.Glu209Lys | |
| XR_945732.3:n.648G>A | ||
| XR_945733.2:n.585G>A | ||
| NM_000043.6:c.580G>A MANE Select | NP_000034.1:p.Glu194Lys | |
| NM_001320619.2:c.568+1195G>A | NP_001307548.1:n.568+1195G>A | |
| NM_152871.4:c.517G>A | NP_690610.1:p.Glu173Lys | |
| NM_152872.4:c.580G>A | NP_690611.1:p.Glu194Lys | |
| NR_028033.4:n.487G>A | ||
| NR_028034.4:n.349G>A | ||
| NR_028035.4:n.412G>A | ||
| NR_028036.4:n.550G>A | ||
| NR_135313.2:n.538+1195G>A | ||
| NR_135314.2:n.746G>A | ||
| NR_135315.2:n.499G>A |