SNP Links for Protein (Select 767931381) - SNP

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Links from Protein

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Select item 14898938281.

rs1489893828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:65404382 (GRCh38)
4:66270100 (GRCh37)
Canonical SPDI:: NC_000004.12:65404381:G:A,NC_000004.12:65404381:G:C
Gene:: EPHA5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.65404382G>A, NC_000004.12:g.65404382G>C, NC_000004.11:g.66270100G>A, NC_000004.11:g.66270100G>C, NM_004439.8:c.1782C>T, NM_004439.8:c.1782C>G, NM_004439.7:c.1782C>T, NM_004439.7:c.1782C>G, NM_004439.6:c.1782C>T, NM_004439.6:c.1782C>G, NM_004439.5:c.1782C>T, NM_004439.5:c.1782C>G, NM_182472.5:c.1782C>T, NM_182472.5:c.1782C>G, NM_182472.4:c.1782C>T, NM_182472.4:c.1782C>G, NM_182472.3:c.1782C>T, NM_182472.3:c.1782C>G, NM_182472.2:c.1782C>T, NM_182472.2:c.1782C>G, XM_005265653.5:c.1293C>T, XM_005265653.5:c.1293C>G, XM_005265653.4:c.1293C>T, XM_005265653.4:c.1293C>G, XM_005265653.3:c.1293C>T, XM_005265653.3:c.1293C>G, XM_005265653.2:c.1293C>T, XM_005265653.2:c.1293C>G, XM_005265653.1:c.1293C>T, XM_005265653.1:c.1293C>G, XM_011531735.4:c.1449C>T, XM_011531735.4:c.1449C>G, XM_011531735.3:c.1449C>T, XM_011531735.3:c.1449C>G, XM_011531735.2:c.1449C>T, XM_011531735.2:c.1449C>G, XM_011531735.1:c.1449C>T, XM_011531735.1:c.1449C>G, NM_001281765.3:c.1785C>T, NM_001281765.3:c.1785C>G, NM_001281765.2:c.1785C>T, NM_001281765.2:c.1785C>G, NM_001281765.1:c.1785C>T, NM_001281765.1:c.1785C>G, NM_001281766.3:c.1785C>T, NM_001281766.3:c.1785C>G, NM_001281766.2:c.1785C>T, NM_001281766.2:c.1785C>G, NM_001281766.1:c.1785C>T, NM_001281766.1:c.1785C>G, XM_017007878.3:c.1449C>T, XM_017007878.3:c.1449C>G, XM_017007878.2:c.1449C>T, XM_017007878.2:c.1449C>G, XM_017007878.1:c.1449C>T, XM_017007878.1:c.1449C>G, XM_017007880.3:c.1293C>T, XM_017007880.3:c.1293C>G, XM_017007880.2:c.1293C>T, XM_017007880.2:c.1293C>G, XM_017007880.1:c.1293C>T, XM_017007880.1:c.1293C>G, NM_001281767.3:c.1785C>T, NM_001281767.3:c.1785C>G, NM_001281767.2:c.1785C>T, NM_001281767.2:c.1785C>G, NM_001281767.1:c.1785C>T, NM_001281767.1:c.1785C>G, XM_017007881.3:c.1290C>T, XM_017007881.3:c.1290C>G, XM_017007881.2:c.1290C>T, XM_017007881.2:c.1290C>G, XM_017007881.1:c.1290C>T, XM_017007881.1:c.1290C>G, NM_001318761.2:c.1578C>T, NM_001318761.2:c.1578C>G, NM_001318761.1:c.1578C>T, NM_001318761.1:c.1578C>G, XM_047449762.1:c.1446C>T, XM_047449762.1:c.1446C>G, XM_047449763.1:c.1290C>T, XM_047449763.1:c.1290C>G

Select item 14876340212.

rs1487634021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:65348078 (GRCh38)
4:66213796 (GRCh37)
Canonical SPDI:: NC_000004.12:65348077:G:A,NC_000004.12:65348077:G:C,NC_000004.12:65348077:G:T
Gene:: EPHA5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65348078G>A, NC_000004.12:g.65348078G>C, NC_000004.12:g.65348078G>T, NC_000004.11:g.66213796G>A, NC_000004.11:g.66213796G>C, NC_000004.11:g.66213796G>T, NM_004439.8:c.2634C>T, NM_004439.8:c.2634C>G, NM_004439.8:c.2634C>A, NM_004439.7:c.2634C>T, NM_004439.7:c.2634C>G, NM_004439.7:c.2634C>A, NM_004439.6:c.2634C>T, NM_004439.6:c.2634C>G, NM_004439.6:c.2634C>A, NM_004439.5:c.2634C>T, NM_004439.5:c.2634C>G, NM_004439.5:c.2634C>A, NM_182472.5:c.2568C>T, NM_182472.5:c.2568C>G, NM_182472.5:c.2568C>A, NM_182472.4:c.2568C>T, NM_182472.4:c.2568C>G, NM_182472.4:c.2568C>A, NM_182472.3:c.2568C>T, NM_182472.3:c.2568C>G, NM_182472.3:c.2568C>A, NM_182472.2:c.2568C>T, NM_182472.2:c.2568C>G, NM_182472.2:c.2568C>A, XM_005265653.5:c.2145C>T, XM_005265653.5:c.2145C>G, XM_005265653.5:c.2145C>A, XM_005265653.4:c.2145C>T, XM_005265653.4:c.2145C>G, XM_005265653.4:c.2145C>A, XM_005265653.3:c.2145C>T, XM_005265653.3:c.2145C>G, XM_005265653.3:c.2145C>A, XM_005265653.2:c.2145C>T, XM_005265653.2:c.2145C>G, XM_005265653.2:c.2145C>A, XM_005265653.1:c.2145C>T, XM_005265653.1:c.2145C>G, XM_005265653.1:c.2145C>A, XM_011531735.4:c.2301C>T, XM_011531735.4:c.2301C>G, XM_011531735.4:c.2301C>A, XM_011531735.3:c.2301C>T, XM_011531735.3:c.2301C>G, XM_011531735.3:c.2301C>A, XM_011531735.2:c.2301C>T, XM_011531735.2:c.2301C>G, XM_011531735.2:c.2301C>A, XM_011531735.1:c.2301C>T, XM_011531735.1:c.2301C>G, XM_011531735.1:c.2301C>A, NM_001281765.3:c.2637C>T, NM_001281765.3:c.2637C>G, NM_001281765.3:c.2637C>A, NM_001281765.2:c.2637C>T, NM_001281765.2:c.2637C>G, NM_001281765.2:c.2637C>A, NM_001281765.1:c.2637C>T, NM_001281765.1:c.2637C>G, NM_001281765.1:c.2637C>A, NM_001281766.3:c.2571C>T, NM_001281766.3:c.2571C>G, NM_001281766.3:c.2571C>A, NM_001281766.2:c.2571C>T, NM_001281766.2:c.2571C>G, NM_001281766.2:c.2571C>A, NM_001281766.1:c.2571C>T, NM_001281766.1:c.2571C>G, NM_001281766.1:c.2571C>A, XM_017007878.3:c.2235C>T, XM_017007878.3:c.2235C>G, XM_017007878.3:c.2235C>A, XM_017007878.2:c.2235C>T, XM_017007878.2:c.2235C>G, XM_017007878.2:c.2235C>A, XM_017007878.1:c.2235C>T, XM_017007878.1:c.2235C>G, XM_017007878.1:c.2235C>A, XM_017007880.3:c.2079C>T, XM_017007880.3:c.2079C>G, XM_017007880.3:c.2079C>A, XM_017007880.2:c.2079C>T, XM_017007880.2:c.2079C>G, XM_017007880.2:c.2079C>A, XM_017007880.1:c.2079C>T, XM_017007880.1:c.2079C>G, XM_017007880.1:c.2079C>A, NM_001281767.3:c.2637C>T, NM_001281767.3:c.2637C>G, NM_001281767.3:c.2637C>A, NM_001281767.2:c.2637C>T, NM_001281767.2:c.2637C>G, NM_001281767.2:c.2637C>A, NM_001281767.1:c.2637C>T, NM_001281767.1:c.2637C>G, NM_001281767.1:c.2637C>A, XM_017007881.3:c.2076C>T, XM_017007881.3:c.2076C>G, XM_017007881.3:c.2076C>A, XM_017007881.2:c.2076C>T, XM_017007881.2:c.2076C>G, XM_017007881.2:c.2076C>A, XM_017007881.1:c.2076C>T, XM_017007881.1:c.2076C>G, XM_017007881.1:c.2076C>A, NM_001318761.2:c.2430C>T, NM_001318761.2:c.2430C>G, NM_001318761.2:c.2430C>A, NM_001318761.1:c.2430C>T, NM_001318761.1:c.2430C>G, NM_001318761.1:c.2430C>A, XM_047449762.1:c.2232C>T, XM_047449762.1:c.2232C>G, XM_047449762.1:c.2232C>A, XM_047449763.1:c.2142C>T, XM_047449763.1:c.2142C>G, XM_047449763.1:c.2142C>A

Select item 14875858403.

rs1487585840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:65602215 (GRCh38)
4:66467933 (GRCh37)
Canonical SPDI:: NC_000004.12:65602214:C:A,NC_000004.12:65602214:C:G,NC_000004.12:65602214:C:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.65602215C>A, NC_000004.12:g.65602215C>G, NC_000004.12:g.65602215C>T, NC_000004.11:g.66467933C>A, NC_000004.11:g.66467933C>G, NC_000004.11:g.66467933C>T, NM_004439.8:c.336G>T, NM_004439.8:c.336G>C, NM_004439.8:c.336G>A, NM_004439.7:c.336G>T, NM_004439.7:c.336G>C, NM_004439.7:c.336G>A, NM_004439.6:c.336G>T, NM_004439.6:c.336G>C, NM_004439.6:c.336G>A, NM_004439.5:c.336G>T, NM_004439.5:c.336G>C, NM_004439.5:c.336G>A, NM_182472.5:c.336G>T, NM_182472.5:c.336G>C, NM_182472.5:c.336G>A, NM_182472.4:c.336G>T, NM_182472.4:c.336G>C, NM_182472.4:c.336G>A, NM_182472.3:c.336G>T, NM_182472.3:c.336G>C, NM_182472.3:c.336G>A, NM_182472.2:c.336G>T, NM_182472.2:c.336G>C, NM_182472.2:c.336G>A, XM_005265653.5:c.336G>T, XM_005265653.5:c.336G>C, XM_005265653.5:c.336G>A, XM_005265653.4:c.336G>T, XM_005265653.4:c.336G>C, XM_005265653.4:c.336G>A, XM_005265653.3:c.336G>T, XM_005265653.3:c.336G>C, XM_005265653.3:c.336G>A, XM_005265653.2:c.336G>T, XM_005265653.2:c.336G>C, XM_005265653.2:c.336G>A, XM_005265653.1:c.336G>T, XM_005265653.1:c.336G>C, XM_005265653.1:c.336G>A, XM_011531735.4:c.336G>T, XM_011531735.4:c.336G>C, XM_011531735.4:c.336G>A, XM_011531735.3:c.336G>T, XM_011531735.3:c.336G>C, XM_011531735.3:c.336G>A, XM_011531735.2:c.336G>T, XM_011531735.2:c.336G>C, XM_011531735.2:c.336G>A, XM_011531735.1:c.336G>T, XM_011531735.1:c.336G>C, XM_011531735.1:c.336G>A, NM_001281765.3:c.336G>T, NM_001281765.3:c.336G>C, NM_001281765.3:c.336G>A, NM_001281765.2:c.336G>T, NM_001281765.2:c.336G>C, NM_001281765.2:c.336G>A, NM_001281765.1:c.336G>T, NM_001281765.1:c.336G>C, NM_001281765.1:c.336G>A, NM_001281766.3:c.336G>T, NM_001281766.3:c.336G>C, NM_001281766.3:c.336G>A, NM_001281766.2:c.336G>T, NM_001281766.2:c.336G>C, NM_001281766.2:c.336G>A, NM_001281766.1:c.336G>T, NM_001281766.1:c.336G>C, NM_001281766.1:c.336G>A, XM_017007878.3:c.336G>T, XM_017007878.3:c.336G>C, XM_017007878.3:c.336G>A, XM_017007878.2:c.336G>T, XM_017007878.2:c.336G>C, XM_017007878.2:c.336G>A, XM_017007878.1:c.336G>T, XM_017007878.1:c.336G>C, XM_017007878.1:c.336G>A, XM_017007880.3:c.336G>T, XM_017007880.3:c.336G>C, XM_017007880.3:c.336G>A, XM_017007880.2:c.336G>T, XM_017007880.2:c.336G>C, XM_017007880.2:c.336G>A, XM_017007880.1:c.336G>T, XM_017007880.1:c.336G>C, XM_017007880.1:c.336G>A, NM_001281767.3:c.336G>T, NM_001281767.3:c.336G>C, NM_001281767.3:c.336G>A, NM_001281767.2:c.336G>T, NM_001281767.2:c.336G>C, NM_001281767.2:c.336G>A, NM_001281767.1:c.336G>T, NM_001281767.1:c.336G>C, NM_001281767.1:c.336G>A, XM_017007881.3:c.336G>T, XM_017007881.3:c.336G>C, XM_017007881.3:c.336G>A, XM_017007881.2:c.336G>T, XM_017007881.2:c.336G>C, XM_017007881.2:c.336G>A, XM_017007881.1:c.336G>T, XM_017007881.1:c.336G>C, XM_017007881.1:c.336G>A, NM_001318761.2:c.129G>T, NM_001318761.2:c.129G>C, NM_001318761.2:c.129G>A, NM_001318761.1:c.129G>T, NM_001318761.1:c.129G>C, NM_001318761.1:c.129G>A, XM_047449762.1:c.336G>T, XM_047449762.1:c.336G>C, XM_047449762.1:c.336G>A, XM_047449763.1:c.336G>T, XM_047449763.1:c.336G>C, XM_047449763.1:c.336G>A, NP_004430.4:p.Trp112Cys, NP_004430.4:p.Trp112Cys, NP_004430.4:p.Trp112Ter, NP_872272.2:p.Trp112Cys, NP_872272.2:p.Trp112Cys, NP_872272.2:p.Trp112Ter, XP_005265710.1:p.Trp112Cys, XP_005265710.1:p.Trp112Cys, XP_005265710.1:p.Trp112Ter, XP_011530037.1:p.Trp112Cys, XP_011530037.1:p.Trp112Cys, XP_011530037.1:p.Trp112Ter, NP_001268694.1:p.Trp112Cys, NP_001268694.1:p.Trp112Cys, NP_001268694.1:p.Trp112Ter, NP_001268695.1:p.Trp112Cys, NP_001268695.1:p.Trp112Cys, NP_001268695.1:p.Trp112Ter, XP_016863367.1:p.Trp112Cys, XP_016863367.1:p.Trp112Cys, XP_016863367.1:p.Trp112Ter, XP_016863369.1:p.Trp112Cys, XP_016863369.1:p.Trp112Cys, XP_016863369.1:p.Trp112Ter, NP_001268696.1:p.Trp112Cys, NP_001268696.1:p.Trp112Cys, NP_001268696.1:p.Trp112Ter, XP_016863370.1:p.Trp112Cys, XP_016863370.1:p.Trp112Cys, XP_016863370.1:p.Trp112Ter, NP_001305690.1:p.Trp43Cys, NP_001305690.1:p.Trp43Cys, NP_001305690.1:p.Trp43Ter, XP_047305718.1:p.Trp112Cys, XP_047305718.1:p.Trp112Cys, XP_047305718.1:p.Trp112Ter, XP_047305719.1:p.Trp112Cys, XP_047305719.1:p.Trp112Cys, XP_047305719.1:p.Trp112Ter

Select item 14868945784.

rs1486894578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 4:65601756 (GRCh38)
4:66467474 (GRCh37)
Canonical SPDI:: NC_000004.12:65601755:A:C,NC_000004.12:65601755:A:G,NC_000004.12:65601755:A:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.65601756A>C, NC_000004.12:g.65601756A>G, NC_000004.12:g.65601756A>T, NC_000004.11:g.66467474A>C, NC_000004.11:g.66467474A>G, NC_000004.11:g.66467474A>T, NM_004439.8:c.795T>G, NM_004439.8:c.795T>C, NM_004439.8:c.795T>A, NM_004439.7:c.795T>G, NM_004439.7:c.795T>C, NM_004439.7:c.795T>A, NM_004439.6:c.795T>G, NM_004439.6:c.795T>C, NM_004439.6:c.795T>A, NM_004439.5:c.795T>G, NM_004439.5:c.795T>C, NM_004439.5:c.795T>A, NM_182472.5:c.795T>G, NM_182472.5:c.795T>C, NM_182472.5:c.795T>A, NM_182472.4:c.795T>G, NM_182472.4:c.795T>C, NM_182472.4:c.795T>A, NM_182472.3:c.795T>G, NM_182472.3:c.795T>C, NM_182472.3:c.795T>A, NM_182472.2:c.795T>G, NM_182472.2:c.795T>C, NM_182472.2:c.795T>A, XM_005265653.5:c.795T>G, XM_005265653.5:c.795T>C, XM_005265653.5:c.795T>A, XM_005265653.4:c.795T>G, XM_005265653.4:c.795T>C, XM_005265653.4:c.795T>A, XM_005265653.3:c.795T>G, XM_005265653.3:c.795T>C, XM_005265653.3:c.795T>A, XM_005265653.2:c.795T>G, XM_005265653.2:c.795T>C, XM_005265653.2:c.795T>A, XM_005265653.1:c.795T>G, XM_005265653.1:c.795T>C, XM_005265653.1:c.795T>A, XM_011531735.4:c.795T>G, XM_011531735.4:c.795T>C, XM_011531735.4:c.795T>A, XM_011531735.3:c.795T>G, XM_011531735.3:c.795T>C, XM_011531735.3:c.795T>A, XM_011531735.2:c.795T>G, XM_011531735.2:c.795T>C, XM_011531735.2:c.795T>A, XM_011531735.1:c.795T>G, XM_011531735.1:c.795T>C, XM_011531735.1:c.795T>A, NM_001281765.3:c.795T>G, NM_001281765.3:c.795T>C, NM_001281765.3:c.795T>A, NM_001281765.2:c.795T>G, NM_001281765.2:c.795T>C, NM_001281765.2:c.795T>A, NM_001281765.1:c.795T>G, NM_001281765.1:c.795T>C, NM_001281765.1:c.795T>A, NM_001281766.3:c.795T>G, NM_001281766.3:c.795T>C, NM_001281766.3:c.795T>A, NM_001281766.2:c.795T>G, NM_001281766.2:c.795T>C, NM_001281766.2:c.795T>A, NM_001281766.1:c.795T>G, NM_001281766.1:c.795T>C, NM_001281766.1:c.795T>A, XM_017007878.3:c.795T>G, XM_017007878.3:c.795T>C, XM_017007878.3:c.795T>A, XM_017007878.2:c.795T>G, XM_017007878.2:c.795T>C, XM_017007878.2:c.795T>A, XM_017007878.1:c.795T>G, XM_017007878.1:c.795T>C, XM_017007878.1:c.795T>A, XM_017007880.3:c.795T>G, XM_017007880.3:c.795T>C, XM_017007880.3:c.795T>A, XM_017007880.2:c.795T>G, XM_017007880.2:c.795T>C, XM_017007880.2:c.795T>A, XM_017007880.1:c.795T>G, XM_017007880.1:c.795T>C, XM_017007880.1:c.795T>A, NM_001281767.3:c.795T>G, NM_001281767.3:c.795T>C, NM_001281767.3:c.795T>A, NM_001281767.2:c.795T>G, NM_001281767.2:c.795T>C, NM_001281767.2:c.795T>A, NM_001281767.1:c.795T>G, NM_001281767.1:c.795T>C, NM_001281767.1:c.795T>A, XM_017007881.3:c.795T>G, XM_017007881.3:c.795T>C, XM_017007881.3:c.795T>A, XM_017007881.2:c.795T>G, XM_017007881.2:c.795T>C, XM_017007881.2:c.795T>A, XM_017007881.1:c.795T>G, XM_017007881.1:c.795T>C, XM_017007881.1:c.795T>A, NM_001318761.2:c.588T>G, NM_001318761.2:c.588T>C, NM_001318761.2:c.588T>A, NM_001318761.1:c.588T>G, NM_001318761.1:c.588T>C, NM_001318761.1:c.588T>A, XM_047449762.1:c.795T>G, XM_047449762.1:c.795T>C, XM_047449762.1:c.795T>A, XM_047449763.1:c.795T>G, XM_047449763.1:c.795T>C, XM_047449763.1:c.795T>A, NP_004430.4:p.His265Gln, NP_004430.4:p.His265Gln, NP_872272.2:p.His265Gln, NP_872272.2:p.His265Gln, XP_005265710.1:p.His265Gln, XP_005265710.1:p.His265Gln, XP_011530037.1:p.His265Gln, XP_011530037.1:p.His265Gln, NP_001268694.1:p.His265Gln, NP_001268694.1:p.His265Gln, NP_001268695.1:p.His265Gln, NP_001268695.1:p.His265Gln, XP_016863367.1:p.His265Gln, XP_016863367.1:p.His265Gln, XP_016863369.1:p.His265Gln, XP_016863369.1:p.His265Gln, NP_001268696.1:p.His265Gln, NP_001268696.1:p.His265Gln, XP_016863370.1:p.His265Gln, XP_016863370.1:p.His265Gln, NP_001305690.1:p.His196Gln, NP_001305690.1:p.His196Gln, XP_047305718.1:p.His265Gln, XP_047305718.1:p.His265Gln, XP_047305719.1:p.His265Gln, XP_047305719.1:p.His265Gln

Select item 14830409455.

rs1483040945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:65420509 (GRCh38)
4:66286227 (GRCh37)
Canonical SPDI:: NC_000004.12:65420508:A:C,NC_000004.12:65420508:A:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.65420509A>C, NC_000004.12:g.65420509A>T, NC_000004.11:g.66286227A>C, NC_000004.11:g.66286227A>T, NM_004439.8:c.1459T>G, NM_004439.8:c.1459T>A, NM_004439.7:c.1459T>G, NM_004439.7:c.1459T>A, NM_004439.6:c.1459T>G, NM_004439.6:c.1459T>A, NM_004439.5:c.1459T>G, NM_004439.5:c.1459T>A, NM_182472.5:c.1459T>G, NM_182472.5:c.1459T>A, NM_182472.4:c.1459T>G, NM_182472.4:c.1459T>A, NM_182472.3:c.1459T>G, NM_182472.3:c.1459T>A, NM_182472.2:c.1459T>G, NM_182472.2:c.1459T>A, XM_005265653.5:c.967T>G, XM_005265653.5:c.967T>A, XM_005265653.4:c.967T>G, XM_005265653.4:c.967T>A, XM_005265653.3:c.967T>G, XM_005265653.3:c.967T>A, XM_005265653.2:c.967T>G, XM_005265653.2:c.967T>A, XM_005265653.1:c.967T>G, XM_005265653.1:c.967T>A, XM_011531735.4:c.1123T>G, XM_011531735.4:c.1123T>A, XM_011531735.3:c.1123T>G, XM_011531735.3:c.1123T>A, XM_011531735.2:c.1123T>G, XM_011531735.2:c.1123T>A, XM_011531735.1:c.1123T>G, XM_011531735.1:c.1123T>A, NM_001281765.3:c.1459T>G, NM_001281765.3:c.1459T>A, NM_001281765.2:c.1459T>G, NM_001281765.2:c.1459T>A, NM_001281765.1:c.1459T>G, NM_001281765.1:c.1459T>A, NM_001281766.3:c.1459T>G, NM_001281766.3:c.1459T>A, NM_001281766.2:c.1459T>G, NM_001281766.2:c.1459T>A, NM_001281766.1:c.1459T>G, NM_001281766.1:c.1459T>A, XM_017007878.3:c.1123T>G, XM_017007878.3:c.1123T>A, XM_017007878.2:c.1123T>G, XM_017007878.2:c.1123T>A, XM_017007878.1:c.1123T>G, XM_017007878.1:c.1123T>A, XM_017007880.3:c.967T>G, XM_017007880.3:c.967T>A, XM_017007880.2:c.967T>G, XM_017007880.2:c.967T>A, XM_017007880.1:c.967T>G, XM_017007880.1:c.967T>A, NM_001281767.3:c.1459T>G, NM_001281767.3:c.1459T>A, NM_001281767.2:c.1459T>G, NM_001281767.2:c.1459T>A, NM_001281767.1:c.1459T>G, NM_001281767.1:c.1459T>A, XM_017007881.3:c.967T>G, XM_017007881.3:c.967T>A, XM_017007881.2:c.967T>G, XM_017007881.2:c.967T>A, XM_017007881.1:c.967T>G, XM_017007881.1:c.967T>A, NM_001318761.2:c.1252T>G, NM_001318761.2:c.1252T>A, NM_001318761.1:c.1252T>G, NM_001318761.1:c.1252T>A, XM_047449762.1:c.1123T>G, XM_047449762.1:c.1123T>A, XM_047449763.1:c.967T>G, XM_047449763.1:c.967T>A, NP_004430.4:p.Leu487Val, NP_004430.4:p.Leu487Met, NP_872272.2:p.Leu487Val, NP_872272.2:p.Leu487Met, XP_005265710.1:p.Leu323Val, XP_005265710.1:p.Leu323Met, XP_011530037.1:p.Leu375Val, XP_011530037.1:p.Leu375Met, NP_001268694.1:p.Leu487Val, NP_001268694.1:p.Leu487Met, NP_001268695.1:p.Leu487Val, NP_001268695.1:p.Leu487Met, XP_016863367.1:p.Leu375Val, XP_016863367.1:p.Leu375Met, XP_016863369.1:p.Leu323Val, XP_016863369.1:p.Leu323Met, NP_001268696.1:p.Leu487Val, NP_001268696.1:p.Leu487Met, XP_016863370.1:p.Leu323Val, XP_016863370.1:p.Leu323Met, NP_001305690.1:p.Leu418Val, NP_001305690.1:p.Leu418Met, XP_047305718.1:p.Leu375Val, XP_047305718.1:p.Leu375Met, XP_047305719.1:p.Leu323Val, XP_047305719.1:p.Leu323Met

Select item 14798529086.

rs1479852908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:65366008 (GRCh38)
4:66231726 (GRCh37)
Canonical SPDI:: NC_000004.12:65366007:A:C,NC_000004.12:65366007:A:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65366008A>C, NC_000004.12:g.65366008A>T, NC_000004.11:g.66231726A>C, NC_000004.11:g.66231726A>T, NM_004439.8:c.1974T>G, NM_004439.8:c.1974T>A, NM_004439.7:c.1974T>G, NM_004439.7:c.1974T>A, NM_004439.6:c.1974T>G, NM_004439.6:c.1974T>A, NM_004439.5:c.1974T>G, NM_004439.5:c.1974T>A, NM_182472.5:c.1908T>G, NM_182472.5:c.1908T>A, NM_182472.4:c.1908T>G, NM_182472.4:c.1908T>A, NM_182472.3:c.1908T>G, NM_182472.3:c.1908T>A, NM_182472.2:c.1908T>G, NM_182472.2:c.1908T>A, XM_005265653.5:c.1485T>G, XM_005265653.5:c.1485T>A, XM_005265653.4:c.1485T>G, XM_005265653.4:c.1485T>A, XM_005265653.3:c.1485T>G, XM_005265653.3:c.1485T>A, XM_005265653.2:c.1485T>G, XM_005265653.2:c.1485T>A, XM_005265653.1:c.1485T>G, XM_005265653.1:c.1485T>A, XM_011531735.4:c.1641T>G, XM_011531735.4:c.1641T>A, XM_011531735.3:c.1641T>G, XM_011531735.3:c.1641T>A, XM_011531735.2:c.1641T>G, XM_011531735.2:c.1641T>A, XM_011531735.1:c.1641T>G, XM_011531735.1:c.1641T>A, NM_001281765.3:c.1977T>G, NM_001281765.3:c.1977T>A, NM_001281765.2:c.1977T>G, NM_001281765.2:c.1977T>A, NM_001281765.1:c.1977T>G, NM_001281765.1:c.1977T>A, NM_001281766.3:c.1911T>G, NM_001281766.3:c.1911T>A, NM_001281766.2:c.1911T>G, NM_001281766.2:c.1911T>A, NM_001281766.1:c.1911T>G, NM_001281766.1:c.1911T>A, XM_017007878.3:c.1575T>G, XM_017007878.3:c.1575T>A, XM_017007878.2:c.1575T>G, XM_017007878.2:c.1575T>A, XM_017007878.1:c.1575T>G, XM_017007878.1:c.1575T>A, XM_017007880.3:c.1419T>G, XM_017007880.3:c.1419T>A, XM_017007880.2:c.1419T>G, XM_017007880.2:c.1419T>A, XM_017007880.1:c.1419T>G, XM_017007880.1:c.1419T>A, NM_001281767.3:c.1977T>G, NM_001281767.3:c.1977T>A, NM_001281767.2:c.1977T>G, NM_001281767.2:c.1977T>A, NM_001281767.1:c.1977T>G, NM_001281767.1:c.1977T>A, XM_017007881.3:c.1416T>G, XM_017007881.3:c.1416T>A, XM_017007881.2:c.1416T>G, XM_017007881.2:c.1416T>A, XM_017007881.1:c.1416T>G, XM_017007881.1:c.1416T>A, NM_001318761.2:c.1770T>G, NM_001318761.2:c.1770T>A, NM_001318761.1:c.1770T>G, NM_001318761.1:c.1770T>A, XM_047449762.1:c.1572T>G, XM_047449762.1:c.1572T>A, XM_047449763.1:c.1482T>G, XM_047449763.1:c.1482T>A, NP_004430.4:p.Asp658Glu, NP_004430.4:p.Asp658Glu, NP_872272.2:p.Asp636Glu, NP_872272.2:p.Asp636Glu, XP_005265710.1:p.Asp495Glu, XP_005265710.1:p.Asp495Glu, XP_011530037.1:p.Asp547Glu, XP_011530037.1:p.Asp547Glu, NP_001268694.1:p.Asp659Glu, NP_001268694.1:p.Asp659Glu, NP_001268695.1:p.Asp637Glu, NP_001268695.1:p.Asp637Glu, XP_016863367.1:p.Asp525Glu, XP_016863367.1:p.Asp525Glu, XP_016863369.1:p.Asp473Glu, XP_016863369.1:p.Asp473Glu, NP_001268696.1:p.Asp659Glu, NP_001268696.1:p.Asp659Glu, XP_016863370.1:p.Asp472Glu, XP_016863370.1:p.Asp472Glu, NP_001305690.1:p.Asp590Glu, NP_001305690.1:p.Asp590Glu, XP_047305718.1:p.Asp524Glu, XP_047305718.1:p.Asp524Glu, XP_047305719.1:p.Asp494Glu, XP_047305719.1:p.Asp494Glu

Select item 14795171567.

rs1479517156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:65351551 (GRCh38)
4:66217269 (GRCh37)
Canonical SPDI:: NC_000004.12:65351550:T:A,NC_000004.12:65351550:T:C
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65351551T>A, NC_000004.12:g.65351551T>C, NC_000004.11:g.66217269T>A, NC_000004.11:g.66217269T>C, NM_004439.8:c.2346A>T, NM_004439.8:c.2346A>G, NM_004439.7:c.2346A>T, NM_004439.7:c.2346A>G, NM_004439.6:c.2346A>T, NM_004439.6:c.2346A>G, NM_004439.5:c.2346A>T, NM_004439.5:c.2346A>G, NM_182472.5:c.2280A>T, NM_182472.5:c.2280A>G, NM_182472.4:c.2280A>T, NM_182472.4:c.2280A>G, NM_182472.3:c.2280A>T, NM_182472.3:c.2280A>G, NM_182472.2:c.2280A>T, NM_182472.2:c.2280A>G, XM_005265653.5:c.1857A>T, XM_005265653.5:c.1857A>G, XM_005265653.4:c.1857A>T, XM_005265653.4:c.1857A>G, XM_005265653.3:c.1857A>T, XM_005265653.3:c.1857A>G, XM_005265653.2:c.1857A>T, XM_005265653.2:c.1857A>G, XM_005265653.1:c.1857A>T, XM_005265653.1:c.1857A>G, XM_011531735.4:c.2013A>T, XM_011531735.4:c.2013A>G, XM_011531735.3:c.2013A>T, XM_011531735.3:c.2013A>G, XM_011531735.2:c.2013A>T, XM_011531735.2:c.2013A>G, XM_011531735.1:c.2013A>T, XM_011531735.1:c.2013A>G, NM_001281765.3:c.2349A>T, NM_001281765.3:c.2349A>G, NM_001281765.2:c.2349A>T, NM_001281765.2:c.2349A>G, NM_001281765.1:c.2349A>T, NM_001281765.1:c.2349A>G, NM_001281766.3:c.2283A>T, NM_001281766.3:c.2283A>G, NM_001281766.2:c.2283A>T, NM_001281766.2:c.2283A>G, NM_001281766.1:c.2283A>T, NM_001281766.1:c.2283A>G, XM_017007878.3:c.1947A>T, XM_017007878.3:c.1947A>G, XM_017007878.2:c.1947A>T, XM_017007878.2:c.1947A>G, XM_017007878.1:c.1947A>T, XM_017007878.1:c.1947A>G, XM_017007880.3:c.1791A>T, XM_017007880.3:c.1791A>G, XM_017007880.2:c.1791A>T, XM_017007880.2:c.1791A>G, XM_017007880.1:c.1791A>T, XM_017007880.1:c.1791A>G, NM_001281767.3:c.2349A>T, NM_001281767.3:c.2349A>G, NM_001281767.2:c.2349A>T, NM_001281767.2:c.2349A>G, NM_001281767.1:c.2349A>T, NM_001281767.1:c.2349A>G, XM_017007881.3:c.1788A>T, XM_017007881.3:c.1788A>G, XM_017007881.2:c.1788A>T, XM_017007881.2:c.1788A>G, XM_017007881.1:c.1788A>T, XM_017007881.1:c.1788A>G, NM_001318761.2:c.2142A>T, NM_001318761.2:c.2142A>G, NM_001318761.1:c.2142A>T, NM_001318761.1:c.2142A>G, XM_047449762.1:c.1944A>T, XM_047449762.1:c.1944A>G, XM_047449763.1:c.1854A>T, XM_047449763.1:c.1854A>G, NP_004430.4:p.Arg782Ser, NP_872272.2:p.Arg760Ser, XP_005265710.1:p.Arg619Ser, XP_011530037.1:p.Arg671Ser, NP_001268694.1:p.Arg783Ser, NP_001268695.1:p.Arg761Ser, XP_016863367.1:p.Arg649Ser, XP_016863369.1:p.Arg597Ser, NP_001268696.1:p.Arg783Ser, XP_016863370.1:p.Arg596Ser, NP_001305690.1:p.Arg714Ser, XP_047305718.1:p.Arg648Ser, XP_047305719.1:p.Arg618Ser

Select item 14791134198.

rs1479113419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:65332098 (GRCh38)
4:66197816 (GRCh37)
Canonical SPDI:: NC_000004.12:65332097:T:C
Gene:: EPHA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.65332098T>C, NC_000004.11:g.66197816T>C, NM_004439.8:c.2883A>G, NM_004439.7:c.2883A>G, NM_004439.6:c.2883A>G, NM_004439.5:c.2883A>G, NM_182472.5:c.2817A>G, NM_182472.4:c.2817A>G, NM_182472.3:c.2817A>G, NM_182472.2:c.2817A>G, XM_005265653.5:c.2394A>G, XM_005265653.4:c.2394A>G, XM_005265653.3:c.2394A>G, XM_005265653.2:c.2394A>G, XM_005265653.1:c.2394A>G, XM_011531735.4:c.2550A>G, XM_011531735.3:c.2550A>G, XM_011531735.2:c.2550A>G, XM_011531735.1:c.2550A>G, NM_001281765.3:c.2886A>G, NM_001281765.2:c.2886A>G, NM_001281765.1:c.2886A>G, NM_001281766.3:c.2820A>G, NM_001281766.2:c.2820A>G, NM_001281766.1:c.2820A>G, XM_017007878.3:c.2484A>G, XM_017007878.2:c.2484A>G, XM_017007878.1:c.2484A>G, XM_017007880.3:c.2328A>G, XM_017007880.2:c.2328A>G, XM_017007880.1:c.2328A>G, NM_001281767.3:c.2886A>G, NM_001281767.2:c.2886A>G, NM_001281767.1:c.2886A>G, XM_017007881.3:c.2325A>G, XM_017007881.2:c.2325A>G, XM_017007881.1:c.2325A>G, NM_001318761.2:c.2679A>G, NM_001318761.1:c.2679A>G, XM_047449762.1:c.2481A>G, XM_047449763.1:c.2391A>G

Select item 14779128419.

rs1477912841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:65602261 (GRCh38)
4:66467979 (GRCh37)
Canonical SPDI:: NC_000004.12:65602260:T:G
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.65602261T>G, NC_000004.11:g.66467979T>G, NM_004439.8:c.290A>C, NM_004439.7:c.290A>C, NM_004439.6:c.290A>C, NM_004439.5:c.290A>C, NM_182472.5:c.290A>C, NM_182472.4:c.290A>C, NM_182472.3:c.290A>C, NM_182472.2:c.290A>C, XM_005265653.5:c.290A>C, XM_005265653.4:c.290A>C, XM_005265653.3:c.290A>C, XM_005265653.2:c.290A>C, XM_005265653.1:c.290A>C, XM_011531735.4:c.290A>C, XM_011531735.3:c.290A>C, XM_011531735.2:c.290A>C, XM_011531735.1:c.290A>C, NM_001281765.3:c.290A>C, NM_001281765.2:c.290A>C, NM_001281765.1:c.290A>C, NM_001281766.3:c.290A>C, NM_001281766.2:c.290A>C, NM_001281766.1:c.290A>C, XM_017007878.3:c.290A>C, XM_017007878.2:c.290A>C, XM_017007878.1:c.290A>C, XM_017007880.3:c.290A>C, XM_017007880.2:c.290A>C, XM_017007880.1:c.290A>C, NM_001281767.3:c.290A>C, NM_001281767.2:c.290A>C, NM_001281767.1:c.290A>C, XM_017007881.3:c.290A>C, XM_017007881.2:c.290A>C, XM_017007881.1:c.290A>C, NM_001318761.2:c.83A>C, NM_001318761.1:c.83A>C, XM_047449762.1:c.290A>C, XM_047449763.1:c.290A>C, NP_004430.4:p.His97Pro, NP_872272.2:p.His97Pro, XP_005265710.1:p.His97Pro, XP_011530037.1:p.His97Pro, NP_001268694.1:p.His97Pro, NP_001268695.1:p.His97Pro, XP_016863367.1:p.His97Pro, XP_016863369.1:p.His97Pro, NP_001268696.1:p.His97Pro, XP_016863370.1:p.His97Pro, NP_001305690.1:p.His28Pro, XP_047305718.1:p.His97Pro, XP_047305719.1:p.His97Pro

Select item 147757116110.

rs1477571161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:65348087 (GRCh38)
4:66213805 (GRCh37)
Canonical SPDI:: NC_000004.12:65348086:T:G
Gene:: EPHA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65348087T>G, NC_000004.11:g.66213805T>G, NM_004439.8:c.2625A>C, NM_004439.7:c.2625A>C, NM_004439.6:c.2625A>C, NM_004439.5:c.2625A>C, NM_182472.5:c.2559A>C, NM_182472.4:c.2559A>C, NM_182472.3:c.2559A>C, NM_182472.2:c.2559A>C, XM_005265653.5:c.2136A>C, XM_005265653.4:c.2136A>C, XM_005265653.3:c.2136A>C, XM_005265653.2:c.2136A>C, XM_005265653.1:c.2136A>C, XM_011531735.4:c.2292A>C, XM_011531735.3:c.2292A>C, XM_011531735.2:c.2292A>C, XM_011531735.1:c.2292A>C, NM_001281765.3:c.2628A>C, NM_001281765.2:c.2628A>C, NM_001281765.1:c.2628A>C, NM_001281766.3:c.2562A>C, NM_001281766.2:c.2562A>C, NM_001281766.1:c.2562A>C, XM_017007878.3:c.2226A>C, XM_017007878.2:c.2226A>C, XM_017007878.1:c.2226A>C, XM_017007880.3:c.2070A>C, XM_017007880.2:c.2070A>C, XM_017007880.1:c.2070A>C, NM_001281767.3:c.2628A>C, NM_001281767.2:c.2628A>C, NM_001281767.1:c.2628A>C, XM_017007881.3:c.2067A>C, XM_017007881.2:c.2067A>C, XM_017007881.1:c.2067A>C, NM_001318761.2:c.2421A>C, NM_001318761.1:c.2421A>C, XM_047449762.1:c.2223A>C, XM_047449763.1:c.2133A>C

Select item 147738646011.

rs1477386460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 4:65351465 (GRCh38)
4:66217183 (GRCh37)
Canonical SPDI:: NC_000004.12:65351464:T:A,NC_000004.12:65351464:T:C,NC_000004.12:65351464:T:G
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65351465T>A, NC_000004.12:g.65351465T>C, NC_000004.12:g.65351465T>G, NC_000004.11:g.66217183T>A, NC_000004.11:g.66217183T>C, NC_000004.11:g.66217183T>G, NM_004439.8:c.2432A>T, NM_004439.8:c.2432A>G, NM_004439.8:c.2432A>C, NM_004439.7:c.2432A>T, NM_004439.7:c.2432A>G, NM_004439.7:c.2432A>C, NM_004439.6:c.2432A>T, NM_004439.6:c.2432A>G, NM_004439.6:c.2432A>C, NM_004439.5:c.2432A>T, NM_004439.5:c.2432A>G, NM_004439.5:c.2432A>C, NM_182472.5:c.2366A>T, NM_182472.5:c.2366A>G, NM_182472.5:c.2366A>C, NM_182472.4:c.2366A>T, NM_182472.4:c.2366A>G, NM_182472.4:c.2366A>C, NM_182472.3:c.2366A>T, NM_182472.3:c.2366A>G, NM_182472.3:c.2366A>C, NM_182472.2:c.2366A>T, NM_182472.2:c.2366A>G, NM_182472.2:c.2366A>C, XM_005265653.5:c.1943A>T, XM_005265653.5:c.1943A>G, XM_005265653.5:c.1943A>C, XM_005265653.4:c.1943A>T, XM_005265653.4:c.1943A>G, XM_005265653.4:c.1943A>C, XM_005265653.3:c.1943A>T, XM_005265653.3:c.1943A>G, XM_005265653.3:c.1943A>C, XM_005265653.2:c.1943A>T, XM_005265653.2:c.1943A>G, XM_005265653.2:c.1943A>C, XM_005265653.1:c.1943A>T, XM_005265653.1:c.1943A>G, XM_005265653.1:c.1943A>C, XM_011531735.4:c.2099A>T, XM_011531735.4:c.2099A>G, XM_011531735.4:c.2099A>C, XM_011531735.3:c.2099A>T, XM_011531735.3:c.2099A>G, XM_011531735.3:c.2099A>C, XM_011531735.2:c.2099A>T, XM_011531735.2:c.2099A>G, XM_011531735.2:c.2099A>C, XM_011531735.1:c.2099A>T, XM_011531735.1:c.2099A>G, XM_011531735.1:c.2099A>C, NM_001281765.3:c.2435A>T, NM_001281765.3:c.2435A>G, NM_001281765.3:c.2435A>C, NM_001281765.2:c.2435A>T, NM_001281765.2:c.2435A>G, NM_001281765.2:c.2435A>C, NM_001281765.1:c.2435A>T, NM_001281765.1:c.2435A>G, NM_001281765.1:c.2435A>C, NM_001281766.3:c.2369A>T, NM_001281766.3:c.2369A>G, NM_001281766.3:c.2369A>C, NM_001281766.2:c.2369A>T, NM_001281766.2:c.2369A>G, NM_001281766.2:c.2369A>C, NM_001281766.1:c.2369A>T, NM_001281766.1:c.2369A>G, NM_001281766.1:c.2369A>C, XM_017007878.3:c.2033A>T, XM_017007878.3:c.2033A>G, XM_017007878.3:c.2033A>C, XM_017007878.2:c.2033A>T, XM_017007878.2:c.2033A>G, XM_017007878.2:c.2033A>C, XM_017007878.1:c.2033A>T, XM_017007878.1:c.2033A>G, XM_017007878.1:c.2033A>C, XM_017007880.3:c.1877A>T, XM_017007880.3:c.1877A>G, XM_017007880.3:c.1877A>C, XM_017007880.2:c.1877A>T, XM_017007880.2:c.1877A>G, XM_017007880.2:c.1877A>C, XM_017007880.1:c.1877A>T, XM_017007880.1:c.1877A>G, XM_017007880.1:c.1877A>C, NM_001281767.3:c.2435A>T, NM_001281767.3:c.2435A>G, NM_001281767.3:c.2435A>C, NM_001281767.2:c.2435A>T, NM_001281767.2:c.2435A>G, NM_001281767.2:c.2435A>C, NM_001281767.1:c.2435A>T, NM_001281767.1:c.2435A>G, NM_001281767.1:c.2435A>C, XM_017007881.3:c.1874A>T, XM_017007881.3:c.1874A>G, XM_017007881.3:c.1874A>C, XM_017007881.2:c.1874A>T, XM_017007881.2:c.1874A>G, XM_017007881.2:c.1874A>C, XM_017007881.1:c.1874A>T, XM_017007881.1:c.1874A>G, XM_017007881.1:c.1874A>C, NM_001318761.2:c.2228A>T, NM_001318761.2:c.2228A>G, NM_001318761.2:c.2228A>C, NM_001318761.1:c.2228A>T, NM_001318761.1:c.2228A>G, NM_001318761.1:c.2228A>C, XM_047449762.1:c.2030A>T, XM_047449762.1:c.2030A>G, XM_047449762.1:c.2030A>C, XM_047449763.1:c.1940A>T, XM_047449763.1:c.1940A>G, XM_047449763.1:c.1940A>C, NP_004430.4:p.Asn811Ile, NP_004430.4:p.Asn811Ser, NP_004430.4:p.Asn811Thr, NP_872272.2:p.Asn789Ile, NP_872272.2:p.Asn789Ser, NP_872272.2:p.Asn789Thr, XP_005265710.1:p.Asn648Ile, XP_005265710.1:p.Asn648Ser, XP_005265710.1:p.Asn648Thr, XP_011530037.1:p.Asn700Ile, XP_011530037.1:p.Asn700Ser, XP_011530037.1:p.Asn700Thr, NP_001268694.1:p.Asn812Ile, NP_001268694.1:p.Asn812Ser, NP_001268694.1:p.Asn812Thr, NP_001268695.1:p.Asn790Ile, NP_001268695.1:p.Asn790Ser, NP_001268695.1:p.Asn790Thr, XP_016863367.1:p.Asn678Ile, XP_016863367.1:p.Asn678Ser, XP_016863367.1:p.Asn678Thr, XP_016863369.1:p.Asn626Ile, XP_016863369.1:p.Asn626Ser, XP_016863369.1:p.Asn626Thr, NP_001268696.1:p.Asn812Ile, NP_001268696.1:p.Asn812Ser, NP_001268696.1:p.Asn812Thr, XP_016863370.1:p.Asn625Ile, XP_016863370.1:p.Asn625Ser, XP_016863370.1:p.Asn625Thr, NP_001305690.1:p.Asn743Ile, NP_001305690.1:p.Asn743Ser, NP_001305690.1:p.Asn743Thr, XP_047305718.1:p.Asn677Ile, XP_047305718.1:p.Asn677Ser, XP_047305718.1:p.Asn677Thr, XP_047305719.1:p.Asn647Ile, XP_047305719.1:p.Asn647Ser, XP_047305719.1:p.Asn647Thr

Select item 147281538212.

rs1472815382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:65602192 (GRCh38)
4:66467910 (GRCh37)
Canonical SPDI:: NC_000004.12:65602191:T:A,NC_000004.12:65602191:T:C
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65602192T>A, NC_000004.12:g.65602192T>C, NC_000004.11:g.66467910T>A, NC_000004.11:g.66467910T>C, NM_004439.8:c.359A>T, NM_004439.8:c.359A>G, NM_004439.7:c.359A>T, NM_004439.7:c.359A>G, NM_004439.6:c.359A>T, NM_004439.6:c.359A>G, NM_004439.5:c.359A>T, NM_004439.5:c.359A>G, NM_182472.5:c.359A>T, NM_182472.5:c.359A>G, NM_182472.4:c.359A>T, NM_182472.4:c.359A>G, NM_182472.3:c.359A>T, NM_182472.3:c.359A>G, NM_182472.2:c.359A>T, NM_182472.2:c.359A>G, XM_005265653.5:c.359A>T, XM_005265653.5:c.359A>G, XM_005265653.4:c.359A>T, XM_005265653.4:c.359A>G, XM_005265653.3:c.359A>T, XM_005265653.3:c.359A>G, XM_005265653.2:c.359A>T, XM_005265653.2:c.359A>G, XM_005265653.1:c.359A>T, XM_005265653.1:c.359A>G, XM_011531735.4:c.359A>T, XM_011531735.4:c.359A>G, XM_011531735.3:c.359A>T, XM_011531735.3:c.359A>G, XM_011531735.2:c.359A>T, XM_011531735.2:c.359A>G, XM_011531735.1:c.359A>T, XM_011531735.1:c.359A>G, NM_001281765.3:c.359A>T, NM_001281765.3:c.359A>G, NM_001281765.2:c.359A>T, NM_001281765.2:c.359A>G, NM_001281765.1:c.359A>T, NM_001281765.1:c.359A>G, NM_001281766.3:c.359A>T, NM_001281766.3:c.359A>G, NM_001281766.2:c.359A>T, NM_001281766.2:c.359A>G, NM_001281766.1:c.359A>T, NM_001281766.1:c.359A>G, XM_017007878.3:c.359A>T, XM_017007878.3:c.359A>G, XM_017007878.2:c.359A>T, XM_017007878.2:c.359A>G, XM_017007878.1:c.359A>T, XM_017007878.1:c.359A>G, XM_017007880.3:c.359A>T, XM_017007880.3:c.359A>G, XM_017007880.2:c.359A>T, XM_017007880.2:c.359A>G, XM_017007880.1:c.359A>T, XM_017007880.1:c.359A>G, NM_001281767.3:c.359A>T, NM_001281767.3:c.359A>G, NM_001281767.2:c.359A>T, NM_001281767.2:c.359A>G, NM_001281767.1:c.359A>T, NM_001281767.1:c.359A>G, XM_017007881.3:c.359A>T, XM_017007881.3:c.359A>G, XM_017007881.2:c.359A>T, XM_017007881.2:c.359A>G, XM_017007881.1:c.359A>T, XM_017007881.1:c.359A>G, NM_001318761.2:c.152A>T, NM_001318761.2:c.152A>G, NM_001318761.1:c.152A>T, NM_001318761.1:c.152A>G, XM_047449762.1:c.359A>T, XM_047449762.1:c.359A>G, XM_047449763.1:c.359A>T, XM_047449763.1:c.359A>G, NP_004430.4:p.Asn120Ile, NP_004430.4:p.Asn120Ser, NP_872272.2:p.Asn120Ile, NP_872272.2:p.Asn120Ser, XP_005265710.1:p.Asn120Ile, XP_005265710.1:p.Asn120Ser, XP_011530037.1:p.Asn120Ile, XP_011530037.1:p.Asn120Ser, NP_001268694.1:p.Asn120Ile, NP_001268694.1:p.Asn120Ser, NP_001268695.1:p.Asn120Ile, NP_001268695.1:p.Asn120Ser, XP_016863367.1:p.Asn120Ile, XP_016863367.1:p.Asn120Ser, XP_016863369.1:p.Asn120Ile, XP_016863369.1:p.Asn120Ser, NP_001268696.1:p.Asn120Ile, NP_001268696.1:p.Asn120Ser, XP_016863370.1:p.Asn120Ile, XP_016863370.1:p.Asn120Ser, NP_001305690.1:p.Asn51Ile, NP_001305690.1:p.Asn51Ser, XP_047305718.1:p.Asn120Ile, XP_047305718.1:p.Asn120Ser, XP_047305719.1:p.Asn120Ile, XP_047305719.1:p.Asn120Ser

Select item 147251735813.

rs1472517358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:65669709 (GRCh38)
4:66535427 (GRCh37)
Canonical SPDI:: NC_000004.12:65669708:G:A,NC_000004.12:65669708:G:C
Gene:: EPHA5 (Varview), EPHA5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.65669709G>A, NC_000004.12:g.65669709G>C, NC_000004.11:g.66535427G>A, NC_000004.11:g.66535427G>C, NM_004439.8:c.34C>T, NM_004439.8:c.34C>G, NM_004439.7:c.34C>T, NM_004439.7:c.34C>G, NM_004439.6:c.34C>T, NM_004439.6:c.34C>G, NM_004439.5:c.34C>T, NM_004439.5:c.34C>G, NM_182472.5:c.34C>T, NM_182472.5:c.34C>G, NM_182472.4:c.34C>T, NM_182472.4:c.34C>G, NM_182472.3:c.34C>T, NM_182472.3:c.34C>G, NM_182472.2:c.34C>T, NM_182472.2:c.34C>G, XM_005265653.5:c.34C>T, XM_005265653.5:c.34C>G, XM_005265653.4:c.34C>T, XM_005265653.4:c.34C>G, XM_005265653.3:c.34C>T, XM_005265653.3:c.34C>G, XM_005265653.2:c.34C>T, XM_005265653.2:c.34C>G, XM_005265653.1:c.34C>T, XM_005265653.1:c.34C>G, XM_011531735.4:c.34C>T, XM_011531735.4:c.34C>G, XM_011531735.3:c.34C>T, XM_011531735.3:c.34C>G, XM_011531735.2:c.34C>T, XM_011531735.2:c.34C>G, XM_011531735.1:c.34C>T, XM_011531735.1:c.34C>G, NM_001281765.3:c.34C>T, NM_001281765.3:c.34C>G, NM_001281765.2:c.34C>T, NM_001281765.2:c.34C>G, NM_001281765.1:c.34C>T, NM_001281765.1:c.34C>G, NM_001281766.3:c.34C>T, NM_001281766.3:c.34C>G, NM_001281766.2:c.34C>T, NM_001281766.2:c.34C>G, NM_001281766.1:c.34C>T, NM_001281766.1:c.34C>G, XM_017007878.3:c.34C>T, XM_017007878.3:c.34C>G, XM_017007878.2:c.34C>T, XM_017007878.2:c.34C>G, XM_017007878.1:c.34C>T, XM_017007878.1:c.34C>G, XM_017007880.3:c.34C>T, XM_017007880.3:c.34C>G, XM_017007880.2:c.34C>T, XM_017007880.2:c.34C>G, XM_017007880.1:c.34C>T, XM_017007880.1:c.34C>G, NM_001281767.3:c.34C>T, NM_001281767.3:c.34C>G, NM_001281767.2:c.34C>T, NM_001281767.2:c.34C>G, NM_001281767.1:c.34C>T, NM_001281767.1:c.34C>G, XM_017007881.3:c.34C>T, XM_017007881.3:c.34C>G, XM_017007881.2:c.34C>T, XM_017007881.2:c.34C>G, XM_017007881.1:c.34C>T, XM_017007881.1:c.34C>G, XM_047449762.1:c.34C>T, XM_047449762.1:c.34C>G, XM_047449763.1:c.34C>T, XM_047449763.1:c.34C>G, NP_004430.4:p.Arg12Trp, NP_004430.4:p.Arg12Gly, NP_872272.2:p.Arg12Trp, NP_872272.2:p.Arg12Gly, XP_005265710.1:p.Arg12Trp, XP_005265710.1:p.Arg12Gly, XP_011530037.1:p.Arg12Trp, XP_011530037.1:p.Arg12Gly, NP_001268694.1:p.Arg12Trp, NP_001268694.1:p.Arg12Gly, NP_001268695.1:p.Arg12Trp, NP_001268695.1:p.Arg12Gly, XP_016863367.1:p.Arg12Trp, XP_016863367.1:p.Arg12Gly, XP_016863369.1:p.Arg12Trp, XP_016863369.1:p.Arg12Gly, NP_001268696.1:p.Arg12Trp, NP_001268696.1:p.Arg12Gly, XP_016863370.1:p.Arg12Trp, XP_016863370.1:p.Arg12Gly, XP_047305718.1:p.Arg12Trp, XP_047305718.1:p.Arg12Gly, XP_047305719.1:p.Arg12Trp, XP_047305719.1:p.Arg12Gly

Select item 147248711714.

rs1472487117 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATCAGCTCCAGTGATGG>- [Show Flanks]
Chromosome:: 4:65601797 (GRCh38)
4:66467515 (GRCh37)
Canonical SPDI:: NC_000004.12:65601795:GAATCAGCTCCAGTGATGG:G
Gene:: EPHA5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65601797_65601814del, NC_000004.11:g.66467515_66467532del, NM_004439.8:c.738_755del, NM_004439.7:c.738_755del, NM_004439.6:c.738_755del, NM_004439.5:c.738_755del, NM_182472.5:c.738_755del, NM_182472.4:c.738_755del, NM_182472.3:c.738_755del, NM_182472.2:c.738_755del, XM_005265653.5:c.738_755del, XM_005265653.4:c.738_755del, XM_005265653.3:c.738_755del, XM_005265653.2:c.738_755del, XM_005265653.1:c.738_755del, XM_011531735.4:c.738_755del, XM_011531735.3:c.738_755del, XM_011531735.2:c.738_755del, XM_011531735.1:c.738_755del, NM_001281765.3:c.738_755del, NM_001281765.2:c.738_755del, NM_001281765.1:c.738_755del, NM_001281766.3:c.738_755del, NM_001281766.2:c.738_755del, NM_001281766.1:c.738_755del, XM_017007878.3:c.738_755del, XM_017007878.2:c.738_755del, XM_017007878.1:c.738_755del, XM_017007880.3:c.738_755del, XM_017007880.2:c.738_755del, XM_017007880.1:c.738_755del, NM_001281767.3:c.738_755del, NM_001281767.2:c.738_755del, NM_001281767.1:c.738_755del, XM_017007881.3:c.738_755del, XM_017007881.2:c.738_755del, XM_017007881.1:c.738_755del, NM_001318761.2:c.531_548del, NM_001318761.1:c.531_548del, XM_047449762.1:c.738_755del, XM_047449763.1:c.738_755del, NP_004430.4:p.Ile247_Ser252del, NP_872272.2:p.Ile247_Ser252del, XP_005265710.1:p.Ile247_Ser252del, XP_011530037.1:p.Ile247_Ser252del, NP_001268694.1:p.Ile247_Ser252del, NP_001268695.1:p.Ile247_Ser252del, XP_016863367.1:p.Ile247_Ser252del, XP_016863369.1:p.Ile247_Ser252del, NP_001268696.1:p.Ile247_Ser252del, XP_016863370.1:p.Ile247_Ser252del, NP_001305690.1:p.Ile178_Ser183del, XP_047305718.1:p.Ile247_Ser252del, XP_047305719.1:p.Ile247_Ser252del

Select item 147017435715.

rs1470174357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:65351463 (GRCh38)
4:66217181 (GRCh37)
Canonical SPDI:: NC_000004.12:65351462:G:A,NC_000004.12:65351462:G:C,NC_000004.12:65351462:G:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.65351463G>A, NC_000004.12:g.65351463G>C, NC_000004.12:g.65351463G>T, NC_000004.11:g.66217181G>A, NC_000004.11:g.66217181G>C, NC_000004.11:g.66217181G>T, NM_004439.8:c.2434C>T, NM_004439.8:c.2434C>G, NM_004439.8:c.2434C>A, NM_004439.7:c.2434C>T, NM_004439.7:c.2434C>G, NM_004439.7:c.2434C>A, NM_004439.6:c.2434C>T, NM_004439.6:c.2434C>G, NM_004439.6:c.2434C>A, NM_004439.5:c.2434C>T, NM_004439.5:c.2434C>G, NM_004439.5:c.2434C>A, NM_182472.5:c.2368C>T, NM_182472.5:c.2368C>G, NM_182472.5:c.2368C>A, NM_182472.4:c.2368C>T, NM_182472.4:c.2368C>G, NM_182472.4:c.2368C>A, NM_182472.3:c.2368C>T, NM_182472.3:c.2368C>G, NM_182472.3:c.2368C>A, NM_182472.2:c.2368C>T, NM_182472.2:c.2368C>G, NM_182472.2:c.2368C>A, XM_005265653.5:c.1945C>T, XM_005265653.5:c.1945C>G, XM_005265653.5:c.1945C>A, XM_005265653.4:c.1945C>T, XM_005265653.4:c.1945C>G, XM_005265653.4:c.1945C>A, XM_005265653.3:c.1945C>T, XM_005265653.3:c.1945C>G, XM_005265653.3:c.1945C>A, XM_005265653.2:c.1945C>T, XM_005265653.2:c.1945C>G, XM_005265653.2:c.1945C>A, XM_005265653.1:c.1945C>T, XM_005265653.1:c.1945C>G, XM_005265653.1:c.1945C>A, XM_011531735.4:c.2101C>T, XM_011531735.4:c.2101C>G, XM_011531735.4:c.2101C>A, XM_011531735.3:c.2101C>T, XM_011531735.3:c.2101C>G, XM_011531735.3:c.2101C>A, XM_011531735.2:c.2101C>T, XM_011531735.2:c.2101C>G, XM_011531735.2:c.2101C>A, XM_011531735.1:c.2101C>T, XM_011531735.1:c.2101C>G, XM_011531735.1:c.2101C>A, NM_001281765.3:c.2437C>T, NM_001281765.3:c.2437C>G, NM_001281765.3:c.2437C>A, NM_001281765.2:c.2437C>T, NM_001281765.2:c.2437C>G, NM_001281765.2:c.2437C>A, NM_001281765.1:c.2437C>T, NM_001281765.1:c.2437C>G, NM_001281765.1:c.2437C>A, NM_001281766.3:c.2371C>T, NM_001281766.3:c.2371C>G, NM_001281766.3:c.2371C>A, NM_001281766.2:c.2371C>T, NM_001281766.2:c.2371C>G, NM_001281766.2:c.2371C>A, NM_001281766.1:c.2371C>T, NM_001281766.1:c.2371C>G, NM_001281766.1:c.2371C>A, XM_017007878.3:c.2035C>T, XM_017007878.3:c.2035C>G, XM_017007878.3:c.2035C>A, XM_017007878.2:c.2035C>T, XM_017007878.2:c.2035C>G, XM_017007878.2:c.2035C>A, XM_017007878.1:c.2035C>T, XM_017007878.1:c.2035C>G, XM_017007878.1:c.2035C>A, XM_017007880.3:c.1879C>T, XM_017007880.3:c.1879C>G, XM_017007880.3:c.1879C>A, XM_017007880.2:c.1879C>T, XM_017007880.2:c.1879C>G, XM_017007880.2:c.1879C>A, XM_017007880.1:c.1879C>T, XM_017007880.1:c.1879C>G, XM_017007880.1:c.1879C>A, NM_001281767.3:c.2437C>T, NM_001281767.3:c.2437C>G, NM_001281767.3:c.2437C>A, NM_001281767.2:c.2437C>T, NM_001281767.2:c.2437C>G, NM_001281767.2:c.2437C>A, NM_001281767.1:c.2437C>T, NM_001281767.1:c.2437C>G, NM_001281767.1:c.2437C>A, XM_017007881.3:c.1876C>T, XM_017007881.3:c.1876C>G, XM_017007881.3:c.1876C>A, XM_017007881.2:c.1876C>T, XM_017007881.2:c.1876C>G, XM_017007881.2:c.1876C>A, XM_017007881.1:c.1876C>T, XM_017007881.1:c.1876C>G, XM_017007881.1:c.1876C>A, NM_001318761.2:c.2230C>T, NM_001318761.2:c.2230C>G, NM_001318761.2:c.2230C>A, NM_001318761.1:c.2230C>T, NM_001318761.1:c.2230C>G, NM_001318761.1:c.2230C>A, XM_047449762.1:c.2032C>T, XM_047449762.1:c.2032C>G, XM_047449762.1:c.2032C>A, XM_047449763.1:c.1942C>T, XM_047449763.1:c.1942C>G, XM_047449763.1:c.1942C>A, NP_004430.4:p.Leu812Phe, NP_004430.4:p.Leu812Val, NP_004430.4:p.Leu812Ile, NP_872272.2:p.Leu790Phe, NP_872272.2:p.Leu790Val, NP_872272.2:p.Leu790Ile, XP_005265710.1:p.Leu649Phe, XP_005265710.1:p.Leu649Val, XP_005265710.1:p.Leu649Ile, XP_011530037.1:p.Leu701Phe, XP_011530037.1:p.Leu701Val, XP_011530037.1:p.Leu701Ile, NP_001268694.1:p.Leu813Phe, NP_001268694.1:p.Leu813Val, NP_001268694.1:p.Leu813Ile, NP_001268695.1:p.Leu791Phe, NP_001268695.1:p.Leu791Val, NP_001268695.1:p.Leu791Ile, XP_016863367.1:p.Leu679Phe, XP_016863367.1:p.Leu679Val, XP_016863367.1:p.Leu679Ile, XP_016863369.1:p.Leu627Phe, XP_016863369.1:p.Leu627Val, XP_016863369.1:p.Leu627Ile, NP_001268696.1:p.Leu813Phe, NP_001268696.1:p.Leu813Val, NP_001268696.1:p.Leu813Ile, XP_016863370.1:p.Leu626Phe, XP_016863370.1:p.Leu626Val, XP_016863370.1:p.Leu626Ile, NP_001305690.1:p.Leu744Phe, NP_001305690.1:p.Leu744Val, NP_001305690.1:p.Leu744Ile, XP_047305718.1:p.Leu678Phe, XP_047305718.1:p.Leu678Val, XP_047305718.1:p.Leu678Ile, XP_047305719.1:p.Leu648Phe, XP_047305719.1:p.Leu648Val, XP_047305719.1:p.Leu648Ile

Select item 146979338216.

rs1469793382 [Homo sapiens]

Variant type:: DEL
Alleles:: GATGGGCA>- [Show Flanks]
Chromosome:: 4:65601693 (GRCh38)
4:66467411 (GRCh37)
Canonical SPDI:: NC_000004.12:65601692:GATGGGCA:
Gene:: EPHA5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.65601693_65601700del, NC_000004.11:g.66467411_66467418del, NM_004439.8:c.851_858del, NM_004439.7:c.851_858del, NM_004439.6:c.851_858del, NM_004439.5:c.851_858del, NM_182472.5:c.851_858del, NM_182472.4:c.851_858del, NM_182472.3:c.851_858del, NM_182472.2:c.851_858del, XM_005265653.5:c.851_858del, XM_005265653.4:c.851_858del, XM_005265653.3:c.851_858del, XM_005265653.2:c.851_858del, XM_005265653.1:c.851_858del, XM_011531735.4:c.851_858del, XM_011531735.3:c.851_858del, XM_011531735.2:c.851_858del, XM_011531735.1:c.851_858del, NM_001281765.3:c.851_858del, NM_001281765.2:c.851_858del, NM_001281765.1:c.851_858del, NM_001281766.3:c.851_858del, NM_001281766.2:c.851_858del, NM_001281766.1:c.851_858del, XM_017007878.3:c.851_858del, XM_017007878.2:c.851_858del, XM_017007878.1:c.851_858del, XM_017007880.3:c.851_858del, XM_017007880.2:c.851_858del, XM_017007880.1:c.851_858del, NM_001281767.3:c.851_858del, NM_001281767.2:c.851_858del, NM_001281767.1:c.851_858del, XM_017007881.3:c.851_858del, XM_017007881.2:c.851_858del, XM_017007881.1:c.851_858del, NM_001318761.2:c.644_651del, NM_001318761.1:c.644_651del, XM_047449762.1:c.851_858del, XM_047449763.1:c.851_858del, NP_004430.4:p.Val284fs, NP_872272.2:p.Val284fs, XP_005265710.1:p.Val284fs, XP_011530037.1:p.Val284fs, NP_001268694.1:p.Val284fs, NP_001268695.1:p.Val284fs, XP_016863367.1:p.Val284fs, XP_016863369.1:p.Val284fs, NP_001268696.1:p.Val284fs, XP_016863370.1:p.Val284fs, NP_001305690.1:p.Val215fs, XP_047305718.1:p.Val284fs, XP_047305719.1:p.Val284fs

Select item 146962288117.

rs1469622881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:65351535 (GRCh38)
4:66217253 (GRCh37)
Canonical SPDI:: NC_000004.12:65351534:T:C
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.65351535T>C, NC_000004.11:g.66217253T>C, NM_004439.8:c.2362A>G, NM_004439.7:c.2362A>G, NM_004439.6:c.2362A>G, NM_004439.5:c.2362A>G, NM_182472.5:c.2296A>G, NM_182472.4:c.2296A>G, NM_182472.3:c.2296A>G, NM_182472.2:c.2296A>G, XM_005265653.5:c.1873A>G, XM_005265653.4:c.1873A>G, XM_005265653.3:c.1873A>G, XM_005265653.2:c.1873A>G, XM_005265653.1:c.1873A>G, XM_011531735.4:c.2029A>G, XM_011531735.3:c.2029A>G, XM_011531735.2:c.2029A>G, XM_011531735.1:c.2029A>G, NM_001281765.3:c.2365A>G, NM_001281765.2:c.2365A>G, NM_001281765.1:c.2365A>G, NM_001281766.3:c.2299A>G, NM_001281766.2:c.2299A>G, NM_001281766.1:c.2299A>G, XM_017007878.3:c.1963A>G, XM_017007878.2:c.1963A>G, XM_017007878.1:c.1963A>G, XM_017007880.3:c.1807A>G, XM_017007880.2:c.1807A>G, XM_017007880.1:c.1807A>G, NM_001281767.3:c.2365A>G, NM_001281767.2:c.2365A>G, NM_001281767.1:c.2365A>G, XM_017007881.3:c.1804A>G, XM_017007881.2:c.1804A>G, XM_017007881.1:c.1804A>G, NM_001318761.2:c.2158A>G, NM_001318761.1:c.2158A>G, XM_047449762.1:c.1960A>G, XM_047449763.1:c.1870A>G, NP_004430.4:p.Met788Val, NP_872272.2:p.Met766Val, XP_005265710.1:p.Met625Val, XP_011530037.1:p.Met677Val, NP_001268694.1:p.Met789Val, NP_001268695.1:p.Met767Val, XP_016863367.1:p.Met655Val, XP_016863369.1:p.Met603Val, NP_001268696.1:p.Met789Val, XP_016863370.1:p.Met602Val, NP_001305690.1:p.Met720Val, XP_047305718.1:p.Met654Val, XP_047305719.1:p.Met624Val

Select item 146765139118.

rs1467651391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:65351488 (GRCh38)
4:66217206 (GRCh37)
Canonical SPDI:: NC_000004.12:65351487:G:A,NC_000004.12:65351487:G:C,NC_000004.12:65351487:G:T
Gene:: EPHA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65351488G>A, NC_000004.12:g.65351488G>C, NC_000004.12:g.65351488G>T, NC_000004.11:g.66217206G>A, NC_000004.11:g.66217206G>C, NC_000004.11:g.66217206G>T, NM_004439.8:c.2409C>T, NM_004439.8:c.2409C>G, NM_004439.8:c.2409C>A, NM_004439.7:c.2409C>T, NM_004439.7:c.2409C>G, NM_004439.7:c.2409C>A, NM_004439.6:c.2409C>T, NM_004439.6:c.2409C>G, NM_004439.6:c.2409C>A, NM_004439.5:c.2409C>T, NM_004439.5:c.2409C>G, NM_004439.5:c.2409C>A, NM_182472.5:c.2343C>T, NM_182472.5:c.2343C>G, NM_182472.5:c.2343C>A, NM_182472.4:c.2343C>T, NM_182472.4:c.2343C>G, NM_182472.4:c.2343C>A, NM_182472.3:c.2343C>T, NM_182472.3:c.2343C>G, NM_182472.3:c.2343C>A, NM_182472.2:c.2343C>T, NM_182472.2:c.2343C>G, NM_182472.2:c.2343C>A, XM_005265653.5:c.1920C>T, XM_005265653.5:c.1920C>G, XM_005265653.5:c.1920C>A, XM_005265653.4:c.1920C>T, XM_005265653.4:c.1920C>G, XM_005265653.4:c.1920C>A, XM_005265653.3:c.1920C>T, XM_005265653.3:c.1920C>G, XM_005265653.3:c.1920C>A, XM_005265653.2:c.1920C>T, XM_005265653.2:c.1920C>G, XM_005265653.2:c.1920C>A, XM_005265653.1:c.1920C>T, XM_005265653.1:c.1920C>G, XM_005265653.1:c.1920C>A, XM_011531735.4:c.2076C>T, XM_011531735.4:c.2076C>G, XM_011531735.4:c.2076C>A, XM_011531735.3:c.2076C>T, XM_011531735.3:c.2076C>G, XM_011531735.3:c.2076C>A, XM_011531735.2:c.2076C>T, XM_011531735.2:c.2076C>G, XM_011531735.2:c.2076C>A, XM_011531735.1:c.2076C>T, XM_011531735.1:c.2076C>G, XM_011531735.1:c.2076C>A, NM_001281765.3:c.2412C>T, NM_001281765.3:c.2412C>G, NM_001281765.3:c.2412C>A, NM_001281765.2:c.2412C>T, NM_001281765.2:c.2412C>G, NM_001281765.2:c.2412C>A, NM_001281765.1:c.2412C>T, NM_001281765.1:c.2412C>G, NM_001281765.1:c.2412C>A, NM_001281766.3:c.2346C>T, NM_001281766.3:c.2346C>G, NM_001281766.3:c.2346C>A, NM_001281766.2:c.2346C>T, NM_001281766.2:c.2346C>G, NM_001281766.2:c.2346C>A, NM_001281766.1:c.2346C>T, NM_001281766.1:c.2346C>G, NM_001281766.1:c.2346C>A, XM_017007878.3:c.2010C>T, XM_017007878.3:c.2010C>G, XM_017007878.3:c.2010C>A, XM_017007878.2:c.2010C>T, XM_017007878.2:c.2010C>G, XM_017007878.2:c.2010C>A, XM_017007878.1:c.2010C>T, XM_017007878.1:c.2010C>G, XM_017007878.1:c.2010C>A, XM_017007880.3:c.1854C>T, XM_017007880.3:c.1854C>G, XM_017007880.3:c.1854C>A, XM_017007880.2:c.1854C>T, XM_017007880.2:c.1854C>G, XM_017007880.2:c.1854C>A, XM_017007880.1:c.1854C>T, XM_017007880.1:c.1854C>G, XM_017007880.1:c.1854C>A, NM_001281767.3:c.2412C>T, NM_001281767.3:c.2412C>G, NM_001281767.3:c.2412C>A, NM_001281767.2:c.2412C>T, NM_001281767.2:c.2412C>G, NM_001281767.2:c.2412C>A, NM_001281767.1:c.2412C>T, NM_001281767.1:c.2412C>G, NM_001281767.1:c.2412C>A, XM_017007881.3:c.1851C>T, XM_017007881.3:c.1851C>G, XM_017007881.3:c.1851C>A, XM_017007881.2:c.1851C>T, XM_017007881.2:c.1851C>G, XM_017007881.2:c.1851C>A, XM_017007881.1:c.1851C>T, XM_017007881.1:c.1851C>G, XM_017007881.1:c.1851C>A, NM_001318761.2:c.2205C>T, NM_001318761.2:c.2205C>G, NM_001318761.2:c.2205C>A, NM_001318761.1:c.2205C>T, NM_001318761.1:c.2205C>G, NM_001318761.1:c.2205C>A, XM_047449762.1:c.2007C>T, XM_047449762.1:c.2007C>G, XM_047449762.1:c.2007C>A, XM_047449763.1:c.1917C>T, XM_047449763.1:c.1917C>G, XM_047449763.1:c.1917C>A

Select item 146746890519.

rs1467468905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:65366018 (GRCh38)
4:66231736 (GRCh37)
Canonical SPDI:: NC_000004.12:65366017:G:A,NC_000004.12:65366017:G:C,NC_000004.12:65366017:G:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65366018G>A, NC_000004.12:g.65366018G>C, NC_000004.12:g.65366018G>T, NC_000004.11:g.66231736G>A, NC_000004.11:g.66231736G>C, NC_000004.11:g.66231736G>T, NM_004439.8:c.1964C>T, NM_004439.8:c.1964C>G, NM_004439.8:c.1964C>A, NM_004439.7:c.1964C>T, NM_004439.7:c.1964C>G, NM_004439.7:c.1964C>A, NM_004439.6:c.1964C>T, NM_004439.6:c.1964C>G, NM_004439.6:c.1964C>A, NM_004439.5:c.1964C>T, NM_004439.5:c.1964C>G, NM_004439.5:c.1964C>A, NM_182472.5:c.1898C>T, NM_182472.5:c.1898C>G, NM_182472.5:c.1898C>A, NM_182472.4:c.1898C>T, NM_182472.4:c.1898C>G, NM_182472.4:c.1898C>A, NM_182472.3:c.1898C>T, NM_182472.3:c.1898C>G, NM_182472.3:c.1898C>A, NM_182472.2:c.1898C>T, NM_182472.2:c.1898C>G, NM_182472.2:c.1898C>A, XM_005265653.5:c.1475C>T, XM_005265653.5:c.1475C>G, XM_005265653.5:c.1475C>A, XM_005265653.4:c.1475C>T, XM_005265653.4:c.1475C>G, XM_005265653.4:c.1475C>A, XM_005265653.3:c.1475C>T, XM_005265653.3:c.1475C>G, XM_005265653.3:c.1475C>A, XM_005265653.2:c.1475C>T, XM_005265653.2:c.1475C>G, XM_005265653.2:c.1475C>A, XM_005265653.1:c.1475C>T, XM_005265653.1:c.1475C>G, XM_005265653.1:c.1475C>A, XM_011531735.4:c.1631C>T, XM_011531735.4:c.1631C>G, XM_011531735.4:c.1631C>A, XM_011531735.3:c.1631C>T, XM_011531735.3:c.1631C>G, XM_011531735.3:c.1631C>A, XM_011531735.2:c.1631C>T, XM_011531735.2:c.1631C>G, XM_011531735.2:c.1631C>A, XM_011531735.1:c.1631C>T, XM_011531735.1:c.1631C>G, XM_011531735.1:c.1631C>A, NM_001281765.3:c.1967C>T, NM_001281765.3:c.1967C>G, NM_001281765.3:c.1967C>A, NM_001281765.2:c.1967C>T, NM_001281765.2:c.1967C>G, NM_001281765.2:c.1967C>A, NM_001281765.1:c.1967C>T, NM_001281765.1:c.1967C>G, NM_001281765.1:c.1967C>A, NM_001281766.3:c.1901C>T, NM_001281766.3:c.1901C>G, NM_001281766.3:c.1901C>A, NM_001281766.2:c.1901C>T, NM_001281766.2:c.1901C>G, NM_001281766.2:c.1901C>A, NM_001281766.1:c.1901C>T, NM_001281766.1:c.1901C>G, NM_001281766.1:c.1901C>A, XM_017007878.3:c.1565C>T, XM_017007878.3:c.1565C>G, XM_017007878.3:c.1565C>A, XM_017007878.2:c.1565C>T, XM_017007878.2:c.1565C>G, XM_017007878.2:c.1565C>A, XM_017007878.1:c.1565C>T, XM_017007878.1:c.1565C>G, XM_017007878.1:c.1565C>A, XM_017007880.3:c.1409C>T, XM_017007880.3:c.1409C>G, XM_017007880.3:c.1409C>A, XM_017007880.2:c.1409C>T, XM_017007880.2:c.1409C>G, XM_017007880.2:c.1409C>A, XM_017007880.1:c.1409C>T, XM_017007880.1:c.1409C>G, XM_017007880.1:c.1409C>A, NM_001281767.3:c.1967C>T, NM_001281767.3:c.1967C>G, NM_001281767.3:c.1967C>A, NM_001281767.2:c.1967C>T, NM_001281767.2:c.1967C>G, NM_001281767.2:c.1967C>A, NM_001281767.1:c.1967C>T, NM_001281767.1:c.1967C>G, NM_001281767.1:c.1967C>A, XM_017007881.3:c.1406C>T, XM_017007881.3:c.1406C>G, XM_017007881.3:c.1406C>A, XM_017007881.2:c.1406C>T, XM_017007881.2:c.1406C>G, XM_017007881.2:c.1406C>A, XM_017007881.1:c.1406C>T, XM_017007881.1:c.1406C>G, XM_017007881.1:c.1406C>A, NM_001318761.2:c.1760C>T, NM_001318761.2:c.1760C>G, NM_001318761.2:c.1760C>A, NM_001318761.1:c.1760C>T, NM_001318761.1:c.1760C>G, NM_001318761.1:c.1760C>A, XM_047449762.1:c.1562C>T, XM_047449762.1:c.1562C>G, XM_047449762.1:c.1562C>A, XM_047449763.1:c.1472C>T, XM_047449763.1:c.1472C>G, XM_047449763.1:c.1472C>A, NP_004430.4:p.Thr655Ile, NP_004430.4:p.Thr655Ser, NP_004430.4:p.Thr655Asn, NP_872272.2:p.Thr633Ile, NP_872272.2:p.Thr633Ser, NP_872272.2:p.Thr633Asn, XP_005265710.1:p.Thr492Ile, XP_005265710.1:p.Thr492Ser, XP_005265710.1:p.Thr492Asn, XP_011530037.1:p.Thr544Ile, XP_011530037.1:p.Thr544Ser, XP_011530037.1:p.Thr544Asn, NP_001268694.1:p.Thr656Ile, NP_001268694.1:p.Thr656Ser, NP_001268694.1:p.Thr656Asn, NP_001268695.1:p.Thr634Ile, NP_001268695.1:p.Thr634Ser, NP_001268695.1:p.Thr634Asn, XP_016863367.1:p.Thr522Ile, XP_016863367.1:p.Thr522Ser, XP_016863367.1:p.Thr522Asn, XP_016863369.1:p.Thr470Ile, XP_016863369.1:p.Thr470Ser, XP_016863369.1:p.Thr470Asn, NP_001268696.1:p.Thr656Ile, NP_001268696.1:p.Thr656Ser, NP_001268696.1:p.Thr656Asn, XP_016863370.1:p.Thr469Ile, XP_016863370.1:p.Thr469Ser, XP_016863370.1:p.Thr469Asn, NP_001305690.1:p.Thr587Ile, NP_001305690.1:p.Thr587Ser, NP_001305690.1:p.Thr587Asn, XP_047305718.1:p.Thr521Ile, XP_047305718.1:p.Thr521Ser, XP_047305718.1:p.Thr521Asn, XP_047305719.1:p.Thr491Ile, XP_047305719.1:p.Thr491Ser, XP_047305719.1:p.Thr491Asn

Select item 146514417420.

rs1465144174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:65324145 (GRCh38)
4:66189863 (GRCh37)
Canonical SPDI:: NC_000004.12:65324144:A:G,NC_000004.12:65324144:A:T
Gene:: EPHA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.65324145A>G, NC_000004.12:g.65324145A>T, NC_000004.11:g.66189863A>G, NC_000004.11:g.66189863A>T, NM_004439.8:c.3083T>C, NM_004439.8:c.3083T>A, NM_004439.7:c.3083T>C, NM_004439.7:c.3083T>A, NM_004439.6:c.3083T>C, NM_004439.6:c.3083T>A, NM_004439.5:c.3083T>C, NM_004439.5:c.3083T>A, NM_182472.5:c.3017T>C, NM_182472.5:c.3017T>A, NM_182472.4:c.3017T>C, NM_182472.4:c.3017T>A, NM_182472.3:c.3017T>C, NM_182472.3:c.3017T>A, NM_182472.2:c.3017T>C, NM_182472.2:c.3017T>A, XM_005265653.5:c.2594T>C, XM_005265653.5:c.2594T>A, XM_005265653.4:c.2594T>C, XM_005265653.4:c.2594T>A, XM_005265653.3:c.2594T>C, XM_005265653.3:c.2594T>A, XM_005265653.2:c.2594T>C, XM_005265653.2:c.2594T>A, XM_005265653.1:c.2594T>C, XM_005265653.1:c.2594T>A, XM_011531735.4:c.2750T>C, XM_011531735.4:c.2750T>A, XM_011531735.3:c.2750T>C, XM_011531735.3:c.2750T>A, XM_011531735.2:c.2750T>C, XM_011531735.2:c.2750T>A, XM_011531735.1:c.2750T>C, XM_011531735.1:c.2750T>A, NM_001281765.3:c.3086T>C, NM_001281765.3:c.3086T>A, NM_001281765.2:c.3086T>C, NM_001281765.2:c.3086T>A, NM_001281765.1:c.3086T>C, NM_001281765.1:c.3086T>A, NM_001281766.3:c.3020T>C, NM_001281766.3:c.3020T>A, NM_001281766.2:c.3020T>C, NM_001281766.2:c.3020T>A, NM_001281766.1:c.3020T>C, NM_001281766.1:c.3020T>A, XM_017007878.3:c.2684T>C, XM_017007878.3:c.2684T>A, XM_017007878.2:c.2684T>C, XM_017007878.2:c.2684T>A, XM_017007878.1:c.2684T>C, XM_017007878.1:c.2684T>A, XM_017007880.3:c.2528T>C, XM_017007880.3:c.2528T>A, XM_017007880.2:c.2528T>C, XM_017007880.2:c.2528T>A, XM_017007880.1:c.2528T>C, XM_017007880.1:c.2528T>A, NM_001318761.2:c.2879T>C, NM_001318761.2:c.2879T>A, NM_001318761.1:c.2879T>C, NM_001318761.1:c.2879T>A, XM_047449762.1:c.2681T>C, XM_047449762.1:c.2681T>A, XM_047449763.1:c.2591T>C, XM_047449763.1:c.2591T>A, NP_004430.4:p.Val1028Ala, NP_004430.4:p.Val1028Glu, NP_872272.2:p.Val1006Ala, NP_872272.2:p.Val1006Glu, XP_005265710.1:p.Val865Ala, XP_005265710.1:p.Val865Glu, XP_011530037.1:p.Val917Ala, XP_011530037.1:p.Val917Glu, NP_001268694.1:p.Val1029Ala, NP_001268694.1:p.Val1029Glu, NP_001268695.1:p.Val1007Ala, NP_001268695.1:p.Val1007Glu, XP_016863367.1:p.Val895Ala, XP_016863367.1:p.Val895Glu, XP_016863369.1:p.Val843Ala, XP_016863369.1:p.Val843Glu, NP_001305690.1:p.Val960Ala, NP_001305690.1:p.Val960Glu, XP_047305718.1:p.Val894Ala, XP_047305718.1:p.Val894Glu, XP_047305719.1:p.Val864Ala, XP_047305719.1:p.Val864Glu

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