Linked Data
ClinVar Variation Id:
301530
dbSNP Id:
rs28362322
ExAC:
10:90770554 A / G
gnomAD v2:
10-90770554-A-G
gnomAD v3:
10-89010797-A-G
gnomAD v4:
10-89010797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89010797A>G , CM000672.2:g.89010797A>G | GRCh38 |
| NC_000010.10:g.90770554A>G , CM000672.1:g.90770554A>G | GRCh37 |
| NC_000010.9:g.90760534A>G | NCBI36 |
| NG_009089.2:g.25267A>G , LRG_134:g.25267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.859A>G | ||
| ENST00000355740.8:c.550A>G | ENSP00000347979.3:p.Ile184Val | |
| ENST00000357339.7:c.505+197A>G | ENSP00000349896.2:n.505+197A>G | |
| ENST00000371857.8:n.912A>G | ||
| ENST00000460510.6:c.-168A>G | ENSP00000512812.1:n.-168A>G | |
| ENST00000466081.6:n.762A>G | ||
| ENST00000477270.6:c.595A>G | ENSP00000512813.1:p.Ile199Val | |
| ENST00000479522.6:c.258+197A>G | ENSP00000424113.1:n.258+197A>G | |
| ENST00000484444.6:c.303A>G | ENSP00000420975.1:p.Gln101= | |
| ENST00000488877.6:c.441A>G | ENSP00000425159.1:p.Gln147= | |
| ENST00000492756.7:c.396+197A>G | ENSP00000422453.1:n.396+197A>G | |
| ENST00000494799.6:c.-168A>G | ENSP00000512834.1:n.-168A>G | |
| ENST00000562983.3:c.-168A>G | ENSP00000512845.1:n.-168A>G | |
| ENST00000612663.6:c.550A>G | ENSP00000477997.3:p.Ile184Val | |
| ENST00000640140.2:n.695A>G | ||
| ENST00000640681.2:n.654A>G | ||
| ENST00000696723.1:n.4183A>G | ||
| ENST00000696741.1:n.1005A>G | ||
| ENST00000696742.1:n.732A>G | ||
| ENST00000696743.1:n.874A>G | ||
| ENST00000696744.1:n.589A>G | ||
| ENST00000696767.1:n.884A>G | ||
| ENST00000696768.1:c.505+197A>G | ENSP00000512859.1:n.505+197A>G | |
| ENST00000696769.1:n.1056A>G | ||
| ENST00000696770.1:n.3477A>G | ||
| ENST00000696771.1:c.-150+197A>G | ENSP00000512860.1:n.-150+197A>G | |
| ENST00000696772.1:n.716A>G | ||
| ENST00000696773.1:n.709A>G | ||
| ENST00000696774.1:n.2465A>G | ||
| ENST00000696776.1:c.643A>G | ENSP00000512861.1:p.Ile215Val | |
| ENST00000696777.1:n.775A>G | ||
| ENST00000696778.1:n.732A>G | ||
| ENST00000696779.1:c.258+197A>G | ENSP00000512862.1:n.258+197A>G | |
| ENST00000696780.1:c.598+197A>G | ENSP00000512863.1:n.598+197A>G | |
| ENST00000696781.1:c.396+197A>G | ENSP00000512864.1:n.396+197A>G | |
| ENST00000696782.1:c.505+197A>G | ENSP00000512865.1:n.505+197A>G | |
| ENST00000696783.1:n.1235A>G | ||
| ENST00000696992.1:n.1667A>G | ||
| ENST00000696995.1:n.884A>G | ||
| ENST00000696996.1:n.731A>G | ||
| ENST00000696997.1:c.*180A>G | ENSP00000513028.1:n.*180A>G | |
| ENST00000696998.1:n.621A>G | ||
| ENST00000696999.1:c.-150+197A>G | ENSP00000513029.1:n.-150+197A>G | |
| ENST00000697035.1:c.550A>G | ENSP00000513059.1:p.Ile184Val | |
| ENST00000697036.1:c.441A>G | ENSP00000513060.1:p.Gln147= | |
| ENST00000697037.1:n.585A>G | ||
| ENST00000697093.1:n.774A>G | ||
| ENST00000697094.1:n.689A>G | ||
| ENST00000697095.1:c.*1751A>G | ENSP00000513104.1:n.*1751A>G | |
| ENST00000697096.1:n.758A>G | ||
| ENST00000697097.1:c.-168A>G | ENSP00000513105.1:n.-168A>G | |
| ENST00000562983.2:n.736A>G | ||
| ENST00000690268.1:c.631A>G | ENSP00000509810.1:p.Ile211Val | |
| ENST00000355740.7:c.550A>G | ENSP00000347979.3:p.Ile184Val | |
| ENST00000612663.5:c.550A>G | ENSP00000477997.3:p.Ile184Val | |
| ENST00000640140.1:n.722A>G | ||
| ENST00000640681.1:n.671A>G | ||
| ENST00000652046.1:c.550A>G MANE Select | ENSP00000498466.1:p.Ile184Val | |
| ENST00000313771.9:n.859A>G | ||
| ENST00000352159.8:c.550A>G | ENSP00000345601.4:p.Ile184Val | |
| ENST00000355279.2:c.550A>G | ENSP00000347426.2:p.Ile184Val | |
| ENST00000355740.6:c.550A>G | ENSP00000347979.2:p.Ile184Val | |
| ENST00000357339.6:c.505+197A>G | ENSP00000349896.2:n.505+197A>G | |
| ENST00000371857.7:n.868A>G | ||
| ENST00000477270.5:n.713A>G | ||
| ENST00000479522.5:c.258+197A>G | ENSP00000424113.1:n.258+197A>G | |
| ENST00000484444.5:c.303A>G | ENSP00000420975.1:p.Gln101= | |
| ENST00000487314.1:n.699A>G | ||
| ENST00000488877.5:c.441A>G | ENSP00000425159.1:p.Gln147= | |
| ENST00000492756.5:c.396+197A>G | ENSP00000422453.1:n.396+197A>G | |
| ENST00000494410.5:c.441A>G | ENSP00000423755.1:p.Gln147= | |
| ENST00000494799.5:n.457A>G | ||
| ENST00000612663.4:c.550A>G | ENSP00000477997.2:p.Ile184Val | |
| ENST00000615406.4:c.550A>G | ENSP00000484575.1:p.Ile184Val | |
| ENST00000626542.2:c.550A>G | ENSP00000485876.1:p.Ile184Val | |
| NM_000043.4:c.550A>G , LRG_134t1:c.550A>G | NP_000034.1:p.Ile184Val | |
| NM_152871.2:c.505+197A>G | NP_690610.1:n.505+197A>G | |
| NM_152872.2:c.550A>G | NP_690611.1:p.Ile184Val | |
| NR_028033.2:n.742+197A>G | ||
| NR_028034.2:n.604+197A>G | ||
| NR_028035.2:n.649A>G | ||
| NR_028036.2:n.787A>G | ||
| XM_006717819.2:c.631A>G | XP_006717882.1:p.Ile211Val | |
| XM_011539764.1:c.712A>G | XP_011538066.1:p.Ile238Val | |
| XM_011539765.1:c.667+197A>G | XP_011538067.1:n.667+197A>G | |
| XM_011539766.1:c.631A>G | XP_011538068.1:p.Ile211Val | |
| XM_011539767.1:c.595A>G | XP_011538069.1:p.Ile199Val | |
| XR_945732.1:n.618A>G | ||
| XR_945733.1:n.573+197A>G | ||
| NM_000043.5:c.550A>G | NP_000034.1:p.Ile184Val | |
| NM_001320619.1:c.550A>G | NP_001307548.1:p.Ile184Val | |
| NM_152871.3:c.505+197A>G | NP_690610.1:n.505+197A>G | |
| NM_152872.3:c.550A>G | NP_690611.1:p.Ile184Val | |
| NR_028033.3:n.714+197A>G | ||
| NR_028034.3:n.576+197A>G | ||
| NR_028035.3:n.621A>G | ||
| NR_028036.3:n.759A>G | ||
| NR_135313.1:n.759A>G | ||
| NR_135314.1:n.859A>G | ||
| NR_135315.1:n.612A>G | ||
| XM_006717819.3:c.631A>G | XP_006717882.1:p.Ile211Val | |
| XM_011539764.2:c.712A>G | XP_011538066.1:p.Ile238Val | |
| XM_011539765.2:c.667+197A>G | XP_011538067.1:n.667+197A>G | |
| XM_011539766.2:c.631A>G | XP_011538068.1:p.Ile211Val | |
| XM_011539767.3:c.595A>G | XP_011538069.1:p.Ile199Val | |
| XR_945732.3:n.618A>G | ||
| XR_945733.2:n.573+197A>G | ||
| NM_000043.6:c.550A>G MANE Select | NP_000034.1:p.Ile184Val | |
| NM_001320619.2:c.550A>G | NP_001307548.1:p.Ile184Val | |
| NM_152871.4:c.505+197A>G | NP_690610.1:n.505+197A>G | |
| NM_152872.4:c.550A>G | NP_690611.1:p.Ile184Val | |
| NR_028033.4:n.475+197A>G | ||
| NR_028034.4:n.337+197A>G | ||
| NR_028035.4:n.382A>G | ||
| NR_028036.4:n.520A>G | ||
| NR_135313.2:n.520A>G | ||
| NR_135314.2:n.716A>G | ||
| NR_135315.2:n.469A>G |