Linked Data
ClinVar Variation Id:
422467
ClinVar RCV Id:
RCV000481496
dbSNP Id:
rs1064795798
gnomAD v4:
20-58910780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58910780G>A , CM000682.2:g.58910780G>A | GRCh38 |
| NC_000020.10:g.57485835G>A , CM000682.1:g.57485835G>A | GRCh37 |
| NC_000020.9:g.56919230G>A | NCBI36 |
| NG_016194.1:g.76041G>A | |
| NG_016194.2:g.76041G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349036.9:c.3020G>A | ENSP00000265621.6:p.Cys1007Tyr | |
| ENST00000419558.7:c.*994G>A | ENSP00000416234.2:n.*994G>A | |
| ENST00000453292.7:c.1735G>A | ENSP00000392000.2:n.1735G>A | |
| ENST00000462499.6:c.917G>A | ENSP00000499758.2:p.Cys306Tyr | |
| ENST00000464624.7:c.*978G>A | ENSP00000499607.2:n.*978G>A | |
| ENST00000464788.6:c.959G>A | ENSP00000499239.2:p.Cys320Tyr | |
| ENST00000467227.6:c.917G>A | ENSP00000499681.2:p.Cys306Tyr | |
| ENST00000467321.6:c.959G>A | ENSP00000499523.2:p.Cys320Tyr | |
| ENST00000468895.6:c.*27G>A | ENSP00000499551.2:n.*27G>A | |
| ENST00000469431.6:c.959G>A | ENSP00000499654.2:p.Cys320Tyr | |
| ENST00000470512.6:c.962G>A | ENSP00000499552.2:p.Cys321Tyr | |
| ENST00000472183.6:c.959G>A | ENSP00000499673.2:p.Cys320Tyr | |
| ENST00000475610.2:n.1894G>A | ||
| ENST00000476935.6:c.914G>A | ENSP00000499409.2:p.Cys305Tyr | |
| ENST00000478585.6:c.917G>A | ENSP00000499762.2:p.Cys306Tyr | |
| ENST00000480232.6:c.962G>A | ENSP00000499545.2:p.Cys321Tyr | |
| ENST00000481039.6:c.917G>A | ENSP00000499767.2:p.Cys306Tyr | |
| ENST00000482112.6:c.914G>A | ENSP00000499794.2:p.Cys305Tyr | |
| ENST00000485673.6:c.917G>A | ENSP00000499334.2:p.Cys306Tyr | |
| ENST00000488546.6:c.917G>A | ENSP00000499332.2:p.Cys306Tyr | |
| ENST00000488652.6:c.959G>A | ENSP00000499435.2:p.Cys320Tyr | |
| ENST00000492907.6:c.917G>A | ENSP00000499443.2:p.Cys306Tyr | |
| ENST00000603546.2:c.959G>A | ENSP00000474802.2:p.Cys320Tyr | |
| ENST00000604005.6:c.959G>A | ENSP00000474219.2:p.Cys320Tyr | |
| ENST00000663479.2:c.962G>A | ENSP00000499353.2:p.Cys321Tyr | |
| ENST00000667293.2:c.959G>A | ENSP00000499293.2:p.Cys320Tyr | |
| ENST00000676826.2:c.3068G>A | ENSP00000504675.2:p.Cys1023Tyr | |
| ENST00000682092.1:n.5420G>A | ||
| ENST00000682134.1:n.3062G>A | ||
| ENST00000682411.1:n.3231G>A | ||
| ENST00000682590.1:n.5323G>A | ||
| ENST00000682680.1:n.5337G>A | ||
| ENST00000682803.1:c.809G>A | ENSP00000507069.1:p.Cys270Tyr | |
| ENST00000682829.1:n.3464G>A | ||
| ENST00000682917.1:n.1664G>A | ||
| ENST00000682986.1:n.6232G>A | ||
| ENST00000683015.1:c.1906G>A | ENSP00000506815.1:n.1906G>A | |
| ENST00000683632.1:n.5918G>A | ||
| ENST00000683932.1:n.6912G>A | ||
| ENST00000684284.1:n.3514G>A | ||
| ENST00000684466.1:n.1775G>A | ||
| ENST00000684644.1:n.5456G>A | ||
| ENST00000684761.1:n.1629G>A | ||
| ENST00000306090.12:c.1040G>A | ENSP00000304472.12:p.Cys347Tyr | |
| ENST00000354359.12:c.1139G>A | ENSP00000346328.7:p.Cys380Tyr | |
| ENST00000371085.8:c.1136G>A MANE Select | ENSP00000360126.3:p.Cys379Tyr | |
| ENST00000371100.9:c.3065G>A MANE Plus Clinical | ENSP00000360141.3:p.Cys1022Tyr | |
| ENST00000656419.1:c.665G>A | ENSP00000499614.1:p.Cys222Tyr | |
| ENST00000657090.1:c.959G>A | ENSP00000499380.1:p.Cys320Tyr | |
| ENST00000667293.1:c.1007G>A | ENSP00000499293.1:p.Cys336Tyr | |
| ENST00000265620.11:c.1091G>A | ENSP00000265620.7:p.Cys364Tyr | |
| ENST00000306090.11:c.428G>A | ENSP00000304472.11:p.Cys143Tyr | |
| ENST00000313949.11:c.*1039G>A | ENSP00000323571.7:n.*1039G>A | |
| ENST00000354359.11:c.1139G>A | ENSP00000346328.7:p.Cys380Tyr | |
| ENST00000371075.7:c.*1042G>A MANE Plus Clinical | ENSP00000360115.3:n.*1042G>A | |
| ENST00000371085.7:c.1136G>A | ENSP00000360126.3:p.Cys379Tyr | |
| ENST00000371095.7:c.1094G>A | ENSP00000360136.3:p.Cys365Tyr | |
| ENST00000371100.8:c.3065G>A | ENSP00000360141.3:p.Cys1022Tyr | |
| ENST00000371102.8:c.3023G>A | ENSP00000360143.4:p.Cys1008Tyr | |
| ENST00000464624.6:n.3352G>A | ||
| ENST00000475610.1:n.492G>A | ||
| ENST00000476196.5:n.1429G>A | ||
| ENST00000477931.5:n.1251G>A | ||
| ENST00000480975.5:n.1135G>A | ||
| ENST00000487862.5:n.1370G>A | ||
| ENST00000496934.5:n.2425G>A | ||
| NM_000516.4:c.1136G>A | NP_000507.1:p.Cys379Tyr | |
| NM_000516.5:c.1136G>A | NP_000507.1:p.Cys379Tyr | |
| NM_001077488.2:c.1139G>A | NP_001070956.1:p.Cys380Tyr | |
| NM_001077488.3:c.1139G>A | NP_001070956.1:p.Cys380Tyr | |
| NM_001077489.2:c.1091G>A | NP_001070957.1:p.Cys364Tyr | |
| NM_001077489.3:c.1091G>A | NP_001070957.1:p.Cys364Tyr | |
| NM_001077490.1:c.*997G>A | NP_001070958.1:n.*997G>A | |
| NM_001077490.2:c.*997G>A | NP_001070958.1:n.*997G>A | |
| NM_001309840.1:c.959G>A | NP_001296769.1:p.Cys320Tyr | |
| NM_001309861.1:c.959G>A | NP_001296790.1:p.Cys320Tyr | |
| NM_016592.2:c.*1042G>A | NP_057676.1:n.*1042G>A | |
| NM_016592.3:c.*1042G>A | NP_057676.1:n.*1042G>A | |
| NM_080425.2:c.3065G>A | NP_536350.2:p.Cys1022Tyr | |
| NM_080425.3:c.3065G>A | NP_536350.2:p.Cys1022Tyr | |
| NM_080426.2:c.1094G>A | NP_536351.1:p.Cys365Tyr | |
| NM_080426.3:c.1094G>A | NP_536351.1:p.Cys365Tyr | |
| NR_003259.1:c.-4294966070G>A | ||
| XM_017027812.2:c.3068G>A | XP_016883301.1:p.Cys1023Tyr | |
| XM_017027813.2:c.3023G>A | XP_016883302.1:p.Cys1008Tyr | |
| XM_017027814.2:c.3020G>A | XP_016883303.1:p.Cys1007Tyr | |
| XM_017027815.1:c.995G>A | XP_016883304.1:p.Cys332Tyr | |
| XM_017027816.1:c.914G>A | XP_016883305.1:p.Cys305Tyr | |
| XM_017027817.1:c.914G>A | XP_016883306.1:p.Cys305Tyr | |
| XM_017027818.2:c.914G>A | XP_016883307.1:p.Cys305Tyr | |
| XM_017027819.1:c.914G>A | XP_016883308.1:p.Cys305Tyr | |
| XM_017027820.1:c.914G>A | XP_016883309.1:p.Cys305Tyr | |
| XM_024451872.1:c.1040G>A | XP_024307640.1:p.Cys347Tyr | |
| XM_024451873.1:c.959G>A | XP_024307641.1:p.Cys320Tyr | |
| XM_024451874.1:c.959G>A | XP_024307642.1:p.Cys320Tyr | |
| XM_024451875.1:c.959G>A | XP_024307643.1:p.Cys320Tyr | |
| XR_002958471.1:n.1843G>A | ||
| NM_000516.6:c.1136G>A | NP_000507.1:p.Cys379Tyr | |
| NM_001077488.4:c.1139G>A | NP_001070956.1:p.Cys380Tyr | |
| NM_001077489.4:c.1091G>A | NP_001070957.1:p.Cys364Tyr | |
| NM_001309840.2:c.959G>A | NP_001296769.1:p.Cys320Tyr | |
| NM_001309861.2:c.959G>A | NP_001296790.1:p.Cys320Tyr | |
| NM_016592.4:c.*1042G>A | NP_057676.1:n.*1042G>A | |
| NM_080426.4:c.1094G>A | NP_536351.1:p.Cys365Tyr | |
| NM_000516.7:c.1136G>A MANE Select | NP_000507.1:p.Cys379Tyr | |
| NM_001077488.5:c.1139G>A | NP_001070956.1:p.Cys380Tyr | |
| NM_001077490.3:c.*997G>A | NP_001070958.1:n.*997G>A | |
| NM_016592.5:c.*1042G>A MANE Plus Clinical | NP_057676.1:n.*1042G>A | |
| NM_080425.4:c.3065G>A MANE Plus Clinical | NP_536350.2:p.Cys1022Tyr |