MyVariant.info:
GRCh37
chr20:g.57484443T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909388T>C , CM000682.2:g.58909388T>C | GRCh38 |
| NC_000020.10:g.57484443T>C , CM000682.1:g.57484443T>C | GRCh37 |
| NC_000020.9:g.56917838T>C | NCBI36 |
| NG_016194.1:g.74649T>C | |
| NG_016194.2:g.74649T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2508T>C | ENSP00000265621.6:p.Phe836= | |
| ENST00000419558.7:c.*482T>C | ENSP00000416234.2:n.*482T>C | |
| ENST00000453292.7:c.1223T>C | ENSP00000392000.2:n.1223T>C | |
| ENST00000462499.6:c.405T>C | ENSP00000499758.2:p.Phe135= | |
| ENST00000464624.7:c.*466T>C | ENSP00000499607.2:n.*466T>C | |
| ENST00000464788.6:c.447T>C | ENSP00000499239.2:p.Phe149= | |
| ENST00000467227.6:c.405T>C | ENSP00000499681.2:p.Phe135= | |
| ENST00000467321.6:c.447T>C | ENSP00000499523.2:p.Phe149= | |
| ENST00000468895.6:c.624T>C | ENSP00000499551.2:p.Phe208= | |
| ENST00000469431.6:c.447T>C | ENSP00000499654.2:p.Phe149= | |
| ENST00000470512.6:c.450T>C | ENSP00000499552.2:p.Phe150= | |
| ENST00000472183.6:c.447T>C | ENSP00000499673.2:p.Phe149= | |
| ENST00000475610.2:n.1130T>C | ||
| ENST00000476935.6:c.402T>C | ENSP00000499409.2:p.Phe134= | |
| ENST00000478585.6:c.405T>C | ENSP00000499762.2:p.Phe135= | |
| ENST00000480232.6:c.450T>C | ENSP00000499545.2:p.Phe150= | |
| ENST00000481039.6:c.405T>C | ENSP00000499767.2:p.Phe135= | |
| ENST00000482112.6:c.402T>C | ENSP00000499794.2:p.Phe134= | |
| ENST00000485673.6:c.405T>C | ENSP00000499334.2:p.Phe135= | |
| ENST00000488546.6:c.405T>C | ENSP00000499332.2:p.Phe135= | |
| ENST00000488652.6:c.447T>C | ENSP00000499435.2:p.Phe149= | |
| ENST00000492907.6:c.405T>C | ENSP00000499443.2:p.Phe135= | |
| ENST00000603546.2:c.447T>C | ENSP00000474802.2:p.Phe149= | |
| ENST00000604005.6:c.447T>C | ENSP00000474219.2:p.Phe149= | |
| ENST00000663479.2:c.450T>C | ENSP00000499353.2:p.Phe150= | |
| ENST00000667293.2:c.447T>C | ENSP00000499293.2:p.Phe149= | |
| ENST00000676826.2:c.2556T>C | ENSP00000504675.2:p.Phe852= | |
| ENST00000682092.1:n.4811T>C | ||
| ENST00000682134.1:n.2550T>C | ||
| ENST00000682411.1:n.2719T>C | ||
| ENST00000682590.1:n.4811T>C | ||
| ENST00000682680.1:n.4825T>C | ||
| ENST00000682803.1:c.297T>C | ENSP00000507069.1:p.Phe99= | |
| ENST00000682829.1:n.2952T>C | ||
| ENST00000682917.1:n.1152T>C | ||
| ENST00000682986.1:n.4944T>C | ||
| ENST00000683015.1:c.1394T>C | ENSP00000506815.1:n.1394T>C | |
| ENST00000683632.1:n.4953T>C | ||
| ENST00000683932.1:n.6400T>C | ||
| ENST00000684284.1:n.3002T>C | ||
| ENST00000684466.1:n.1263T>C | ||
| ENST00000684644.1:n.4944T>C | ||
| ENST00000684761.1:n.1117T>C | ||
| ENST00000306090.12:c.528T>C | ENSP00000304472.12:p.Phe176= | |
| ENST00000354359.12:c.627T>C | ENSP00000346328.7:p.Phe209= | |
| ENST00000371085.8:c.624T>C MANE Select | ENSP00000360126.3:p.Phe208= | |
| ENST00000371100.9:c.2553T>C MANE Plus Clinical | ENSP00000360141.3:p.Phe851= | |
| ENST00000656419.1:c.153T>C | ENSP00000499614.1:p.Phe51= | |
| ENST00000657090.1:c.447T>C | ENSP00000499380.1:p.Phe149= | |
| ENST00000667293.1:c.495T>C | ENSP00000499293.1:p.Phe165= | |
| ENST00000265620.11:c.579T>C | ENSP00000265620.7:p.Phe193= | |
| ENST00000306090.11:c.94-379T>C | ENSP00000304472.11:n.94-379T>C | |
| ENST00000313949.11:c.*527T>C | ENSP00000323571.7:n.*527T>C | |
| ENST00000354359.11:c.627T>C | ENSP00000346328.7:p.Phe209= | |
| ENST00000371075.7:c.*530T>C MANE Plus Clinical | ENSP00000360115.3:n.*530T>C | |
| ENST00000371085.7:c.624T>C | ENSP00000360126.3:p.Phe208= | |
| ENST00000371095.7:c.582T>C | ENSP00000360136.3:p.Phe194= | |
| ENST00000371100.8:c.2553T>C | ENSP00000360141.3:p.Phe851= | |
| ENST00000371102.8:c.2511T>C | ENSP00000360143.4:p.Phe837= | |
| ENST00000464624.6:n.2840T>C | ||
| ENST00000464788.5:n.552T>C | ||
| ENST00000467321.5:n.639T>C | ||
| ENST00000468895.5:n.493T>C | ||
| ENST00000470512.5:n.698T>C | ||
| ENST00000472183.5:n.876T>C | ||
| ENST00000476196.5:n.917T>C | ||
| ENST00000476935.5:n.613T>C | ||
| ENST00000477931.5:n.739T>C | ||
| ENST00000479025.1:n.340T>C | ||
| ENST00000480232.5:n.643T>C | ||
| ENST00000480975.5:n.623T>C | ||
| ENST00000481039.5:n.541T>C | ||
| ENST00000482112.5:n.698T>C | ||
| ENST00000487862.5:n.858T>C | ||
| ENST00000487981.5:n.361T>C | ||
| ENST00000488546.5:n.483T>C | ||
| ENST00000488652.5:n.714T>C | ||
| ENST00000492907.5:n.575T>C | ||
| ENST00000493958.5:n.243T>C | ||
| ENST00000494081.5:n.274-296T>C | ||
| ENST00000496934.5:n.1913T>C | ||
| ENST00000604005.5:c.447T>C | ENSP00000474219.1:p.Phe149= | |
| NM_000516.4:c.624T>C | NP_000507.1:p.Phe208= | |
| NM_000516.5:c.624T>C | NP_000507.1:p.Phe208= | |
| NM_001077488.2:c.627T>C | NP_001070956.1:p.Phe209= | |
| NM_001077488.3:c.627T>C | NP_001070956.1:p.Phe209= | |
| NM_001077489.2:c.579T>C | NP_001070957.1:p.Phe193= | |
| NM_001077489.3:c.579T>C | NP_001070957.1:p.Phe193= | |
| NM_001077490.1:c.*485T>C | NP_001070958.1:n.*485T>C | |
| NM_001077490.2:c.*485T>C | NP_001070958.1:n.*485T>C | |
| NM_001309840.1:c.447T>C | NP_001296769.1:p.Phe149= | |
| NM_001309861.1:c.447T>C | NP_001296790.1:p.Phe149= | |
| NM_016592.2:c.*530T>C | NP_057676.1:n.*530T>C | |
| NM_016592.3:c.*530T>C | NP_057676.1:n.*530T>C | |
| NM_080425.2:c.2553T>C | NP_536350.2:p.Phe851= | |
| NM_080425.3:c.2553T>C | NP_536350.2:p.Phe851= | |
| NM_080426.2:c.582T>C | NP_536351.1:p.Phe194= | |
| NM_080426.3:c.582T>C | NP_536351.1:p.Phe194= | |
| NR_003259.1:c.-4294966582T>C | ||
| XM_017027812.2:c.2556T>C | XP_016883301.1:p.Phe852= | |
| XM_017027813.2:c.2511T>C | XP_016883302.1:p.Phe837= | |
| XM_017027814.2:c.2508T>C | XP_016883303.1:p.Phe836= | |
| XM_017027815.1:c.483T>C | XP_016883304.1:p.Phe161= | |
| XM_017027816.1:c.402T>C | XP_016883305.1:p.Phe134= | |
| XM_017027817.1:c.402T>C | XP_016883306.1:p.Phe134= | |
| XM_017027818.2:c.402T>C | XP_016883307.1:p.Phe134= | |
| XM_017027819.1:c.402T>C | XP_016883308.1:p.Phe134= | |
| XM_017027820.1:c.402T>C | XP_016883309.1:p.Phe134= | |
| XM_017027821.1:c.*527T>C | XP_016883310.1:n.*527T>C | |
| XM_024451872.1:c.528T>C | XP_024307640.1:p.Phe176= | |
| XM_024451873.1:c.447T>C | XP_024307641.1:p.Phe149= | |
| XM_024451874.1:c.447T>C | XP_024307642.1:p.Phe149= | |
| XM_024451875.1:c.447T>C | XP_024307643.1:p.Phe149= | |
| XR_002958471.1:n.1331T>C | ||
| NM_000516.6:c.624T>C | NP_000507.1:p.Phe208= | |
| NM_001077488.4:c.627T>C | NP_001070956.1:p.Phe209= | |
| NM_001077489.4:c.579T>C | NP_001070957.1:p.Phe193= | |
| NM_001309840.2:c.447T>C | NP_001296769.1:p.Phe149= | |
| NM_001309861.2:c.447T>C | NP_001296790.1:p.Phe149= | |
| NM_016592.4:c.*530T>C | NP_057676.1:n.*530T>C | |
| NM_080426.4:c.582T>C | NP_536351.1:p.Phe194= | |
| NM_000516.7:c.624T>C MANE Select | NP_000507.1:p.Phe208= | |
| NM_001077488.5:c.627T>C | NP_001070956.1:p.Phe209= | |
| NM_001077490.3:c.*485T>C | NP_001070958.1:n.*485T>C | |
| NM_016592.5:c.*530T>C MANE Plus Clinical | NP_057676.1:n.*530T>C | |
| NM_080425.4:c.2553T>C MANE Plus Clinical | NP_536350.2:p.Phe851= |