Linked Data
ClinVar Variation Id:
1284589
dbSNP Id:
rs764458531
ExAC:
20:57485102 T / C
gnomAD v2:
20-57485102-T-C
gnomAD v3:
20-58910047-T-C
gnomAD v4:
20-58910047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58910047T>C , CM000682.2:g.58910047T>C | GRCh38 |
| NC_000020.10:g.57485102T>C , CM000682.1:g.57485102T>C | GRCh37 |
| NC_000020.9:g.56918497T>C | NCBI36 |
| NG_016194.1:g.75308T>C | |
| NG_016194.2:g.75308T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2820T>C | ENSP00000265621.6:p.Phe940= | |
| ENST00000419558.7:c.*794T>C | ENSP00000416234.2:n.*794T>C | |
| ENST00000453292.7:c.1535T>C | ENSP00000392000.2:n.1535T>C | |
| ENST00000462499.6:c.717T>C | ENSP00000499758.2:p.Phe239= | |
| ENST00000464624.7:c.*778T>C | ENSP00000499607.2:n.*778T>C | |
| ENST00000464788.6:c.759T>C | ENSP00000499239.2:p.Phe253= | |
| ENST00000467227.6:c.717T>C | ENSP00000499681.2:p.Phe239= | |
| ENST00000467321.6:c.759T>C | ENSP00000499523.2:p.Phe253= | |
| ENST00000468895.6:c.936T>C | ENSP00000499551.2:p.Phe312= | |
| ENST00000469431.6:c.759T>C | ENSP00000499654.2:p.Phe253= | |
| ENST00000470512.6:c.762T>C | ENSP00000499552.2:p.Phe254= | |
| ENST00000472183.6:c.759T>C | ENSP00000499673.2:p.Phe253= | |
| ENST00000475610.2:n.1442T>C | ||
| ENST00000476935.6:c.714T>C | ENSP00000499409.2:p.Phe238= | |
| ENST00000478585.6:c.717T>C | ENSP00000499762.2:p.Phe239= | |
| ENST00000480232.6:c.762T>C | ENSP00000499545.2:p.Phe254= | |
| ENST00000481039.6:c.717T>C | ENSP00000499767.2:p.Phe239= | |
| ENST00000482112.6:c.714T>C | ENSP00000499794.2:p.Phe238= | |
| ENST00000485673.6:c.717T>C | ENSP00000499334.2:p.Phe239= | |
| ENST00000488546.6:c.717T>C | ENSP00000499332.2:p.Phe239= | |
| ENST00000488652.6:c.759T>C | ENSP00000499435.2:p.Phe253= | |
| ENST00000492907.6:c.717T>C | ENSP00000499443.2:p.Phe239= | |
| ENST00000603546.2:c.759T>C | ENSP00000474802.2:p.Phe253= | |
| ENST00000604005.6:c.759T>C | ENSP00000474219.2:p.Phe253= | |
| ENST00000663479.2:c.762T>C | ENSP00000499353.2:p.Phe254= | |
| ENST00000667293.2:c.759T>C | ENSP00000499293.2:p.Phe253= | |
| ENST00000676826.2:c.2868T>C | ENSP00000504675.2:p.Phe956= | |
| ENST00000682092.1:n.5220T>C | ||
| ENST00000682134.1:n.2862T>C | ||
| ENST00000682411.1:n.3031T>C | ||
| ENST00000682590.1:n.5123T>C | ||
| ENST00000682680.1:n.5137T>C | ||
| ENST00000682803.1:c.609T>C | ENSP00000507069.1:p.Phe203= | |
| ENST00000682829.1:n.3264T>C | ||
| ENST00000682917.1:n.1464T>C | ||
| ENST00000682986.1:n.5499T>C | ||
| ENST00000683015.1:c.1706T>C | ENSP00000506815.1:n.1706T>C | |
| ENST00000683632.1:n.5466T>C | ||
| ENST00000683932.1:n.6712T>C | ||
| ENST00000684284.1:n.3314T>C | ||
| ENST00000684466.1:n.1575T>C | ||
| ENST00000684644.1:n.5256T>C | ||
| ENST00000684761.1:n.1429T>C | ||
| ENST00000306090.12:c.840T>C | ENSP00000304472.12:p.Phe280= | |
| ENST00000354359.12:c.939T>C | ENSP00000346328.7:p.Phe313= | |
| ENST00000371085.8:c.936T>C MANE Select | ENSP00000360126.3:p.Phe312= | |
| ENST00000371100.9:c.2865T>C MANE Plus Clinical | ENSP00000360141.3:p.Phe955= | |
| ENST00000656419.1:c.465T>C | ENSP00000499614.1:p.Phe155= | |
| ENST00000657090.1:c.759T>C | ENSP00000499380.1:p.Phe253= | |
| ENST00000667293.1:c.807T>C | ENSP00000499293.1:p.Phe269= | |
| ENST00000265620.11:c.891T>C | ENSP00000265620.7:p.Phe297= | |
| ENST00000306090.11:c.228T>C | ENSP00000304472.11:p.Phe76= | |
| ENST00000313949.11:c.*839T>C | ENSP00000323571.7:n.*839T>C | |
| ENST00000354359.11:c.939T>C | ENSP00000346328.7:p.Phe313= | |
| ENST00000371075.7:c.*842T>C MANE Plus Clinical | ENSP00000360115.3:n.*842T>C | |
| ENST00000371085.7:c.936T>C | ENSP00000360126.3:p.Phe312= | |
| ENST00000371095.7:c.894T>C | ENSP00000360136.3:p.Phe298= | |
| ENST00000371100.8:c.2865T>C | ENSP00000360141.3:p.Phe955= | |
| ENST00000371102.8:c.2823T>C | ENSP00000360143.4:p.Phe941= | |
| ENST00000464624.6:n.3152T>C | ||
| ENST00000475610.1:n.40T>C | ||
| ENST00000476196.5:n.1229T>C | ||
| ENST00000477931.5:n.1051T>C | ||
| ENST00000480975.5:n.935T>C | ||
| ENST00000487862.5:n.1170T>C | ||
| ENST00000488546.5:n.795T>C | ||
| ENST00000494081.5:n.491T>C | ||
| ENST00000496934.5:n.2225T>C | ||
| NM_000516.4:c.936T>C | NP_000507.1:p.Phe312= | |
| NM_000516.5:c.936T>C | NP_000507.1:p.Phe312= | |
| NM_001077488.2:c.939T>C | NP_001070956.1:p.Phe313= | |
| NM_001077488.3:c.939T>C | NP_001070956.1:p.Phe313= | |
| NM_001077489.2:c.891T>C | NP_001070957.1:p.Phe297= | |
| NM_001077489.3:c.891T>C | NP_001070957.1:p.Phe297= | |
| NM_001077490.1:c.*797T>C | NP_001070958.1:n.*797T>C | |
| NM_001077490.2:c.*797T>C | NP_001070958.1:n.*797T>C | |
| NM_001309840.1:c.759T>C | NP_001296769.1:p.Phe253= | |
| NM_001309861.1:c.759T>C | NP_001296790.1:p.Phe253= | |
| NM_016592.2:c.*842T>C | NP_057676.1:n.*842T>C | |
| NM_016592.3:c.*842T>C | NP_057676.1:n.*842T>C | |
| NM_080425.2:c.2865T>C | NP_536350.2:p.Phe955= | |
| NM_080425.3:c.2865T>C | NP_536350.2:p.Phe955= | |
| NM_080426.2:c.894T>C | NP_536351.1:p.Phe298= | |
| NM_080426.3:c.894T>C | NP_536351.1:p.Phe298= | |
| NR_003259.1:c.-4294966270T>C | ||
| XM_017027812.2:c.2868T>C | XP_016883301.1:p.Phe956= | |
| XM_017027813.2:c.2823T>C | XP_016883302.1:p.Phe941= | |
| XM_017027814.2:c.2820T>C | XP_016883303.1:p.Phe940= | |
| XM_017027815.1:c.795T>C | XP_016883304.1:p.Phe265= | |
| XM_017027816.1:c.714T>C | XP_016883305.1:p.Phe238= | |
| XM_017027817.1:c.714T>C | XP_016883306.1:p.Phe238= | |
| XM_017027818.2:c.714T>C | XP_016883307.1:p.Phe238= | |
| XM_017027819.1:c.714T>C | XP_016883308.1:p.Phe238= | |
| XM_017027820.1:c.714T>C | XP_016883309.1:p.Phe238= | |
| XM_024451872.1:c.840T>C | XP_024307640.1:p.Phe280= | |
| XM_024451873.1:c.759T>C | XP_024307641.1:p.Phe253= | |
| XM_024451874.1:c.759T>C | XP_024307642.1:p.Phe253= | |
| XM_024451875.1:c.759T>C | XP_024307643.1:p.Phe253= | |
| XR_002958471.1:n.1643T>C | ||
| NM_000516.6:c.936T>C | NP_000507.1:p.Phe312= | |
| NM_001077488.4:c.939T>C | NP_001070956.1:p.Phe313= | |
| NM_001077489.4:c.891T>C | NP_001070957.1:p.Phe297= | |
| NM_001309840.2:c.759T>C | NP_001296769.1:p.Phe253= | |
| NM_001309861.2:c.759T>C | NP_001296790.1:p.Phe253= | |
| NM_016592.4:c.*842T>C | NP_057676.1:n.*842T>C | |
| NM_080426.4:c.894T>C | NP_536351.1:p.Phe298= | |
| NM_000516.7:c.936T>C MANE Select | NP_000507.1:p.Phe312= | |
| NM_001077488.5:c.939T>C | NP_001070956.1:p.Phe313= | |
| NM_001077490.3:c.*797T>C | NP_001070958.1:n.*797T>C | |
| NM_016592.5:c.*842T>C MANE Plus Clinical | NP_057676.1:n.*842T>C | |
| NM_080425.4:c.2865T>C MANE Plus Clinical | NP_536350.2:p.Phe955= |