Linked Data
ClinVar Variation Id:
1629295
dbSNP Id:
rs74474807
ExAC:
20:57480546 G / A
gnomAD v2:
20-57480546-G-A
gnomAD v3:
20-58905491-G-A
gnomAD v4:
20-58905491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58905491G>A , CM000682.2:g.58905491G>A | GRCh38 |
| NC_000020.10:g.57480546G>A , CM000682.1:g.57480546G>A | GRCh37 |
| NC_000020.9:g.56913941G>A | NCBI36 |
| NG_016194.1:g.70752G>A | |
| NG_016194.2:g.70752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2414+11G>A | ENSP00000265621.6:n.2414+11G>A | |
| ENST00000419558.7:c.*388+11G>A | ENSP00000416234.2:n.*388+11G>A | |
| ENST00000453292.7:c.1129+11G>A | ENSP00000392000.2:n.1129+11G>A | |
| ENST00000462499.6:c.311+11G>A | ENSP00000499758.2:n.311+11G>A | |
| ENST00000464624.7:c.*372+11G>A | ENSP00000499607.2:n.*372+11G>A | |
| ENST00000464788.6:c.353+11G>A | ENSP00000499239.2:n.353+11G>A | |
| ENST00000467227.6:c.311+11G>A | ENSP00000499681.2:n.311+11G>A | |
| ENST00000467321.6:c.353+11G>A | ENSP00000499523.2:n.353+11G>A | |
| ENST00000468895.6:c.530+11G>A | ENSP00000499551.2:n.530+11G>A | |
| ENST00000469431.6:c.353+11G>A | ENSP00000499654.2:n.353+11G>A | |
| ENST00000470512.6:c.356+11G>A | ENSP00000499552.2:n.356+11G>A | |
| ENST00000472183.6:c.353+11G>A | ENSP00000499673.2:n.353+11G>A | |
| ENST00000475610.2:n.1036+11G>A | ||
| ENST00000476935.6:c.308+11G>A | ENSP00000499409.2:n.308+11G>A | |
| ENST00000478585.6:c.311+11G>A | ENSP00000499762.2:n.311+11G>A | |
| ENST00000480232.6:c.356+11G>A | ENSP00000499545.2:n.356+11G>A | |
| ENST00000481039.6:c.311+11G>A | ENSP00000499767.2:n.311+11G>A | |
| ENST00000482112.6:c.308+11G>A | ENSP00000499794.2:n.308+11G>A | |
| ENST00000485673.6:c.311+11G>A | ENSP00000499334.2:n.311+11G>A | |
| ENST00000488546.6:c.311+11G>A | ENSP00000499332.2:n.311+11G>A | |
| ENST00000488652.6:c.353+11G>A | ENSP00000499435.2:n.353+11G>A | |
| ENST00000492907.6:c.311+11G>A | ENSP00000499443.2:n.311+11G>A | |
| ENST00000603546.2:c.353+11G>A | ENSP00000474802.2:n.353+11G>A | |
| ENST00000604005.6:c.353+11G>A | ENSP00000474219.2:n.353+11G>A | |
| ENST00000663479.2:c.356+11G>A | ENSP00000499353.2:n.356+11G>A | |
| ENST00000667293.2:c.353+11G>A | ENSP00000499293.2:n.353+11G>A | |
| ENST00000676826.2:c.2462+11G>A | ENSP00000504675.2:n.2462+11G>A | |
| ENST00000682092.1:n.1047G>A | ||
| ENST00000682134.1:n.2456+11G>A | ||
| ENST00000682411.1:n.2625+11G>A | ||
| ENST00000682590.1:n.1047G>A | ||
| ENST00000682680.1:n.1061G>A | ||
| ENST00000682803.1:c.203+11G>A | ENSP00000507069.1:n.203+11G>A | |
| ENST00000682829.1:n.2858+11G>A | ||
| ENST00000682917.1:n.1058+11G>A | ||
| ENST00000682986.1:n.1047G>A | ||
| ENST00000683015.1:c.1300+11G>A | ENSP00000506815.1:n.1300+11G>A | |
| ENST00000683632.1:n.1056G>A | ||
| ENST00000683932.1:n.2636G>A | ||
| ENST00000684284.1:n.2908+11G>A | ||
| ENST00000684466.1:n.1036+11G>A | ||
| ENST00000684644.1:n.1047G>A | ||
| ENST00000684761.1:n.1036+11G>A | ||
| ENST00000306090.12:c.434+11G>A | ENSP00000304472.12:n.434+11G>A | |
| ENST00000349036.8:c.2414+11G>A | ENSP00000265621.5:n.2414+11G>A | |
| ENST00000354359.12:c.533+11G>A | ENSP00000346328.7:n.533+11G>A | |
| ENST00000371085.8:c.530+11G>A MANE Select | ENSP00000360126.3:n.530+11G>A | |
| ENST00000371100.9:c.2459+11G>A MANE Plus Clinical | ENSP00000360141.3:n.2459+11G>A | |
| ENST00000490374.6:n.695+11G>A | ||
| ENST00000657090.1:c.353+11G>A | ENSP00000499380.1:n.353+11G>A | |
| ENST00000663479.1:c.356+11G>A | ENSP00000499353.1:n.356+11G>A | |
| ENST00000667293.1:c.401+11G>A | ENSP00000499293.1:n.401+11G>A | |
| ENST00000265620.11:c.485+11G>A | ENSP00000265620.7:n.485+11G>A | |
| ENST00000306090.11:c.94-4276G>A | ENSP00000304472.11:n.94-4276G>A | |
| ENST00000313949.11:c.*433+11G>A | ENSP00000323571.7:n.*433+11G>A | |
| ENST00000354359.11:c.533+11G>A | ENSP00000346328.7:n.533+11G>A | |
| ENST00000371075.7:c.*436+11G>A MANE Plus Clinical | ENSP00000360115.3:n.*436+11G>A | |
| ENST00000371085.7:c.530+11G>A | ENSP00000360126.3:n.530+11G>A | |
| ENST00000371095.7:c.488+11G>A | ENSP00000360136.3:n.488+11G>A | |
| ENST00000371100.8:c.2459+11G>A | ENSP00000360141.3:n.2459+11G>A | |
| ENST00000371102.8:c.2417+11G>A | ENSP00000360143.4:n.2417+11G>A | |
| ENST00000450130.5:c.573+11G>A | ||
| ENST00000464624.6:n.2746+11G>A | ||
| ENST00000464788.5:n.458+11G>A | ||
| ENST00000467227.5:n.471+11G>A | ||
| ENST00000467321.5:n.545+11G>A | ||
| ENST00000468895.5:n.399+11G>A | ||
| ENST00000469431.5:n.647+11G>A | ||
| ENST00000470512.5:n.604+11G>A | ||
| ENST00000472183.5:n.782+11G>A | ||
| ENST00000476196.5:n.823+11G>A | ||
| ENST00000476935.5:n.519+11G>A | ||
| ENST00000477931.5:n.645+11G>A | ||
| ENST00000480232.5:n.549+11G>A | ||
| ENST00000480975.5:n.529+11G>A | ||
| ENST00000481039.5:n.447+11G>A | ||
| ENST00000482112.5:n.604+11G>A | ||
| ENST00000487862.5:n.764+11G>A | ||
| ENST00000487981.5:n.267+11G>A | ||
| ENST00000488546.5:n.389+11G>A | ||
| ENST00000488652.5:n.620+11G>A | ||
| ENST00000490374.5:n.648+11G>A | ||
| ENST00000492907.5:n.481+11G>A | ||
| ENST00000493958.5:n.149+11G>A | ||
| ENST00000494081.5:n.273+11G>A | ||
| ENST00000496934.5:n.1819+11G>A | ||
| ENST00000603546.1:c.353+11G>A | ENSP00000474802.1:n.353+11G>A | |
| ENST00000604005.5:c.353+11G>A | ENSP00000474219.1:n.353+11G>A | |
| NM_000516.4:c.530+11G>A | NP_000507.1:n.530+11G>A | |
| NM_000516.5:c.530+11G>A | NP_000507.1:n.530+11G>A | |
| NM_001077488.2:c.533+11G>A | NP_001070956.1:n.533+11G>A | |
| NM_001077488.3:c.533+11G>A | NP_001070956.1:n.533+11G>A | |
| NM_001077489.2:c.485+11G>A | NP_001070957.1:n.485+11G>A | |
| NM_001077489.3:c.485+11G>A | NP_001070957.1:n.485+11G>A | |
| NM_001077490.1:c.*391+11G>A | NP_001070958.1:n.*391+11G>A | |
| NM_001077490.2:c.*391+11G>A | NP_001070958.1:n.*391+11G>A | |
| NM_001309840.1:c.353+11G>A | NP_001296769.1:n.353+11G>A | |
| NM_001309861.1:c.353+11G>A | NP_001296790.1:n.353+11G>A | |
| NM_016592.2:c.*436+11G>A | NP_057676.1:n.*436+11G>A | |
| NM_016592.3:c.*436+11G>A | NP_057676.1:n.*436+11G>A | |
| NM_080425.2:c.2459+11G>A | NP_536350.2:n.2459+11G>A | |
| NM_080425.3:c.2459+11G>A | NP_536350.2:n.2459+11G>A | |
| NM_080426.2:c.488+11G>A | NP_536351.1:n.488+11G>A | |
| NM_080426.3:c.488+11G>A | NP_536351.1:n.488+11G>A | |
| NR_003259.1:c.-4294966676+11G>A | ||
| XM_017027812.2:c.2462+11G>A | XP_016883301.1:n.2462+11G>A | |
| XM_017027813.2:c.2417+11G>A | XP_016883302.1:n.2417+11G>A | |
| XM_017027814.2:c.2414+11G>A | XP_016883303.1:n.2414+11G>A | |
| XM_017027815.1:c.389+11G>A | XP_016883304.1:n.389+11G>A | |
| XM_017027816.1:c.308+11G>A | XP_016883305.1:n.308+11G>A | |
| XM_017027817.1:c.308+11G>A | XP_016883306.1:n.308+11G>A | |
| XM_017027818.2:c.308+11G>A | XP_016883307.1:n.308+11G>A | |
| XM_017027819.1:c.308+11G>A | XP_016883308.1:n.308+11G>A | |
| XM_017027820.1:c.308+11G>A | XP_016883309.1:n.308+11G>A | |
| XM_017027821.1:c.*433+11G>A | XP_016883310.1:n.*433+11G>A | |
| XM_024451872.1:c.434+11G>A | XP_024307640.1:n.434+11G>A | |
| XM_024451873.1:c.353+11G>A | XP_024307641.1:n.353+11G>A | |
| XM_024451874.1:c.353+11G>A | XP_024307642.1:n.353+11G>A | |
| XM_024451875.1:c.353+11G>A | XP_024307643.1:n.353+11G>A | |
| XR_002958471.1:n.1237+11G>A | ||
| NM_000516.6:c.530+11G>A | NP_000507.1:n.530+11G>A | |
| NM_001077488.4:c.533+11G>A | NP_001070956.1:n.533+11G>A | |
| NM_001077489.4:c.485+11G>A | NP_001070957.1:n.485+11G>A | |
| NM_001309840.2:c.353+11G>A | NP_001296769.1:n.353+11G>A | |
| NM_001309861.2:c.353+11G>A | NP_001296790.1:n.353+11G>A | |
| NM_016592.4:c.*436+11G>A | NP_057676.1:n.*436+11G>A | |
| NM_080426.4:c.488+11G>A | NP_536351.1:n.488+11G>A | |
| NM_000516.7:c.530+11G>A MANE Select | NP_000507.1:n.530+11G>A | |
| NM_001077488.5:c.533+11G>A | NP_001070956.1:n.533+11G>A | |
| NM_001077490.3:c.*391+11G>A | NP_001070958.1:n.*391+11G>A | |
| NM_016592.5:c.*436+11G>A MANE Plus Clinical | NP_057676.1:n.*436+11G>A | |
| NM_080425.4:c.2459+11G>A MANE Plus Clinical | NP_536350.2:n.2459+11G>A |