SNP Links for Protein (Select 223005862) - SNP

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Links from Protein

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Select item 14902013971.

rs1490201397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:54957912 (GRCh38)
2:55185049 (GRCh37)
Canonical SPDI:: NC_000002.12:54957911:G:T
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54957912G>T, NC_000002.11:g.55185049G>T, NM_001039753.4:c.4609G>T, NM_001039753.3:c.4609G>T, NM_001039753.2:c.4609G>T, XM_017004098.3:c.4633G>T, XM_017004098.2:c.4633G>T, XM_017004098.1:c.4633G>T, XM_017004100.3:c.4633G>T, XM_017004100.2:c.4633G>T, XM_017004100.1:c.4633G>T, XM_017004101.2:c.3541G>T, XM_017004101.1:c.3541G>T, XM_047444299.1:c.4633G>T, XM_047444300.1:c.4510G>T, XM_047444302.1:c.4471G>T, XM_047444315.1:c.3883G>T, NP_001034842.2:p.Gly1537Cys, XP_016859587.1:p.Gly1545Cys, XP_016859589.1:p.Gly1545Cys, XP_016859590.1:p.Gly1181Cys, XP_047300255.1:p.Gly1545Cys, XP_047300256.1:p.Gly1504Cys, XP_047300258.1:p.Gly1491Cys, XP_047300271.1:p.Gly1295Cys

Select item 14899149962.

rs1489914996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:54959163 (GRCh38)
2:55186300 (GRCh37)
Canonical SPDI:: NC_000002.12:54959162:C:A,NC_000002.12:54959162:C:T
Gene:: EML6 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54959163C>A, NC_000002.12:g.54959163C>T, NC_000002.11:g.55186300C>A, NC_000002.11:g.55186300C>T, NM_001039753.4:c.4755C>A, NM_001039753.4:c.4755C>T, NM_001039753.3:c.4755C>A, NM_001039753.3:c.4755C>T, NM_001039753.2:c.4755C>A, NM_001039753.2:c.4755C>T, XM_017004098.3:c.4779C>A, XM_017004098.3:c.4779C>T, XM_017004098.2:c.4779C>A, XM_017004098.2:c.4779C>T, XM_017004098.1:c.4779C>A, XM_017004098.1:c.4779C>T, XM_017004100.3:c.4779C>A, XM_017004100.3:c.4779C>T, XM_017004100.2:c.4779C>A, XM_017004100.2:c.4779C>T, XM_017004100.1:c.4779C>A, XM_017004100.1:c.4779C>T, XM_017004101.2:c.3687C>A, XM_017004101.2:c.3687C>T, XM_017004101.1:c.3687C>A, XM_017004101.1:c.3687C>T, XM_047444299.1:c.4779C>A, XM_047444299.1:c.4779C>T, XM_047444300.1:c.4656C>A, XM_047444300.1:c.4656C>T, XM_047444302.1:c.4617C>A, XM_047444302.1:c.4617C>T, XM_047444315.1:c.4029C>A, XM_047444315.1:c.4029C>T, NP_001034842.2:p.Phe1585Leu, XP_016859587.1:p.Phe1593Leu, XP_016859589.1:p.Phe1593Leu, XP_016859590.1:p.Phe1229Leu, XP_047300255.1:p.Phe1593Leu, XP_047300256.1:p.Phe1552Leu, XP_047300258.1:p.Phe1539Leu, XP_047300271.1:p.Phe1343Leu

Select item 14897906733.

rs1489790673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54829393 (GRCh38)
2:55056530 (GRCh37)
Canonical SPDI:: NC_000002.12:54829392:C:T
Gene:: EML6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54829393C>T, NC_000002.11:g.55056530C>T, NM_001039753.4:c.763C>T, NM_001039753.3:c.763C>T, NM_001039753.2:c.763C>T, XM_017004098.3:c.763C>T, XM_017004098.2:c.763C>T, XM_017004098.1:c.763C>T, XM_017004100.3:c.763C>T, XM_017004100.2:c.763C>T, XM_017004100.1:c.763C>T, XR_001738743.2:n.1392C>T, XR_001738743.1:n.1587C>T, XM_017004102.2:c.763C>T, XM_017004102.1:c.763C>T, XM_047444299.1:c.763C>T, XM_047444300.1:c.763C>T, XM_047444302.1:c.763C>T, XM_047444315.1:c.37C>T, NP_001034842.2:p.Arg255Ter, XP_016859587.1:p.Arg255Ter, XP_016859589.1:p.Arg255Ter, XP_016859591.1:p.Arg255Ter, XP_047300255.1:p.Arg255Ter, XP_047300256.1:p.Arg255Ter, XP_047300258.1:p.Arg255Ter, XP_047300271.1:p.Arg13Ter

Select item 14891716504.

rs1489171650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:54962658 (GRCh38)
2:55189794 (GRCh37)
Canonical SPDI:: NC_000002.12:54962657:T:A
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.54962658T>A, NC_000002.11:g.55189794T>A, NM_001039753.4:c.5104T>A, NM_001039753.3:c.5104T>A, NM_001039753.2:c.5104T>A, XM_017004098.3:c.5128T>A, XM_017004098.2:c.5128T>A, XM_017004098.1:c.5128T>A, XM_017004100.3:c.5128T>A, XM_017004100.2:c.5128T>A, XM_017004100.1:c.5128T>A, XM_017004101.2:c.4036T>A, XM_017004101.1:c.4036T>A, XM_047444299.1:c.5128T>A, XM_047444300.1:c.5005T>A, XM_047444302.1:c.4966T>A, XM_047444315.1:c.4378T>A, NP_001034842.2:p.Phe1702Ile, XP_016859587.1:p.Phe1710Ile, XP_016859589.1:p.Phe1710Ile, XP_016859590.1:p.Phe1346Ile, XP_047300255.1:p.Phe1710Ile, XP_047300256.1:p.Phe1669Ile, XP_047300258.1:p.Phe1656Ile, XP_047300271.1:p.Phe1460Ile

Select item 14888348135.

rs1488834813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54853775 (GRCh38)
2:55080912 (GRCh37)
Canonical SPDI:: NC_000002.12:54853774:C:T
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.54853775C>T, NC_000002.11:g.55080912C>T, NM_001039753.4:c.1577C>T, NM_001039753.3:c.1577C>T, NM_001039753.2:c.1577C>T, XM_017004098.3:c.1577C>T, XM_017004098.2:c.1577C>T, XM_017004098.1:c.1577C>T, XM_017004100.3:c.1577C>T, XM_017004100.2:c.1577C>T, XM_017004100.1:c.1577C>T, XM_017004101.2:c.485C>T, XM_017004101.1:c.485C>T, XR_001738743.2:n.2206C>T, XR_001738743.1:n.2401C>T, XM_017004102.2:c.1577C>T, XM_017004102.1:c.1577C>T, XM_047444299.1:c.1577C>T, XM_047444300.1:c.1577C>T, XM_047444302.1:c.1439C>T, XM_047444315.1:c.851C>T, NP_001034842.2:p.Ala526Val, XP_016859587.1:p.Ala526Val, XP_016859589.1:p.Ala526Val, XP_016859590.1:p.Ala162Val, XP_016859591.1:p.Ala526Val, XP_047300255.1:p.Ala526Val, XP_047300256.1:p.Ala526Val, XP_047300258.1:p.Ala480Val, XP_047300271.1:p.Ala284Val

Select item 14885044806.

rs1488504480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:54813352 (GRCh38)
2:55040489 (GRCh37)
Canonical SPDI:: NC_000002.12:54813351:A:C
Gene:: EML6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000025/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54813352A>C, NC_000002.11:g.55040489A>C, NM_001039753.4:c.318A>C, NM_001039753.3:c.318A>C, NM_001039753.2:c.318A>C, XM_017004098.3:c.318A>C, XM_017004098.2:c.318A>C, XM_017004098.1:c.318A>C, XM_017004100.3:c.318A>C, XM_017004100.2:c.318A>C, XM_017004100.1:c.318A>C, XR_001738743.2:n.947A>C, XR_001738743.1:n.1142A>C, XM_017004102.2:c.318A>C, XM_017004102.1:c.318A>C, XM_047444299.1:c.318A>C, XM_047444300.1:c.318A>C, XM_047444302.1:c.318A>C, XM_047444315.1:c.-409A>C

Select item 14881154827.

rs1488115482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54879602 (GRCh38)
2:55106739 (GRCh37)
Canonical SPDI:: NC_000002.12:54879601:T:C
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.54879602T>C, NC_000002.11:g.55106739T>C, NM_001039753.4:c.2400T>C, NM_001039753.3:c.2400T>C, NM_001039753.2:c.2400T>C, XM_017004098.3:c.2400T>C, XM_017004098.2:c.2400T>C, XM_017004098.1:c.2400T>C, XM_017004100.3:c.2400T>C, XM_017004100.2:c.2400T>C, XM_017004100.1:c.2400T>C, XM_017004101.2:c.1308T>C, XM_017004101.1:c.1308T>C, XR_001738743.2:n.3029T>C, XR_001738743.1:n.3224T>C, XM_017004102.2:c.2400T>C, XM_017004102.1:c.2400T>C, XM_047444299.1:c.2400T>C, XM_047444300.1:c.2400T>C, XM_047444302.1:c.2262T>C, XM_047444315.1:c.1674T>C

Select item 14880837658.

rs1488083765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:54894968 (GRCh38)
2:55122105 (GRCh37)
Canonical SPDI:: NC_000002.12:54894967:T:G
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54894968T>G, NC_000002.11:g.55122105T>G, NM_001039753.4:c.2796T>G, NM_001039753.3:c.2796T>G, NM_001039753.2:c.2796T>G, XM_017004098.3:c.2796T>G, XM_017004098.2:c.2796T>G, XM_017004098.1:c.2796T>G, XM_017004100.3:c.2796T>G, XM_017004100.2:c.2796T>G, XM_017004100.1:c.2796T>G, XM_017004101.2:c.1704T>G, XM_017004101.1:c.1704T>G, XR_001738743.2:n.3425T>G, XR_001738743.1:n.3620T>G, XM_017004102.2:c.2796T>G, XM_017004102.1:c.2796T>G, XM_047444299.1:c.2796T>G, XM_047444300.1:c.2796T>G, XM_047444302.1:c.2658T>G, XM_047444315.1:c.2070T>G, NP_001034842.2:p.Phe932Leu, XP_016859587.1:p.Phe932Leu, XP_016859589.1:p.Phe932Leu, XP_016859590.1:p.Phe568Leu, XP_016859591.1:p.Phe932Leu, XP_047300255.1:p.Phe932Leu, XP_047300256.1:p.Phe932Leu, XP_047300258.1:p.Phe886Leu, XP_047300271.1:p.Phe690Leu

Select item 14880323889.

rs1488032388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54964669 (GRCh38)
2:55191805 (GRCh37)
Canonical SPDI:: NC_000002.12:54964668:A:G
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000025/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54964669A>G, NC_000002.11:g.55191805A>G, NM_001039753.4:c.5429A>G, NM_001039753.3:c.5429A>G, NM_001039753.2:c.5429A>G, XM_017004098.3:c.5453A>G, XM_017004098.2:c.5453A>G, XM_017004098.1:c.5453A>G, XM_017004100.3:c.5453A>G, XM_017004100.2:c.5453A>G, XM_017004100.1:c.5453A>G, XM_017004101.2:c.4361A>G, XM_017004101.1:c.4361A>G, XM_047444299.1:c.5453A>G, XM_047444300.1:c.5330A>G, XM_047444302.1:c.5291A>G, XM_047444315.1:c.4703A>G, NP_001034842.2:p.Tyr1810Cys, XP_016859587.1:p.Tyr1818Cys, XP_016859589.1:p.Tyr1818Cys, XP_016859590.1:p.Tyr1454Cys, XP_047300255.1:p.Tyr1818Cys, XP_047300256.1:p.Tyr1777Cys, XP_047300258.1:p.Tyr1764Cys, XP_047300271.1:p.Tyr1568Cys

Select item 148765069110.

rs1487650691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:54970074 (GRCh38)
2:55197210 (GRCh37)
Canonical SPDI:: NC_000002.12:54970073:A:C
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.54970074A>C, NC_000002.11:g.55197210A>C, NM_001039753.4:c.5856A>C, NM_001039753.3:c.5856A>C, NM_001039753.2:c.5856A>C, XM_017004098.3:c.5880A>C, XM_017004098.2:c.5880A>C, XM_017004098.1:c.5880A>C, XM_017004101.2:c.4788A>C, XM_017004101.1:c.4788A>C, XM_047444299.1:c.*1299A>C, XM_047444300.1:c.5757A>C, XM_047444302.1:c.5718A>C, XM_047444315.1:c.5130A>C

Select item 148757628411.

rs1487576284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54899706 (GRCh38)
2:55126843 (GRCh37)
Canonical SPDI:: NC_000002.12:54899705:G:A
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000002.12:g.54899706G>A, NC_000002.11:g.55126843G>A, NM_001039753.4:c.3048G>A, NM_001039753.3:c.3048G>A, NM_001039753.2:c.3048G>A, XM_017004098.3:c.3048G>A, XM_017004098.2:c.3048G>A, XM_017004098.1:c.3048G>A, XM_017004100.3:c.3048G>A, XM_017004100.2:c.3048G>A, XM_017004100.1:c.3048G>A, XM_017004101.2:c.1956G>A, XM_017004101.1:c.1956G>A, XR_001738743.2:n.3677G>A, XR_001738743.1:n.3872G>A, XM_017004102.2:c.3048G>A, XM_017004102.1:c.3048G>A, XM_047444299.1:c.3048G>A, XM_047444300.1:c.3048G>A, XM_047444302.1:c.2910G>A, XM_047444315.1:c.2322G>A

Select item 148610976612.

rs1486109766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:54895325 (GRCh38)
2:55122462 (GRCh37)
Canonical SPDI:: NC_000002.12:54895324:A:G,NC_000002.12:54895324:A:T
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.54895325A>G, NC_000002.12:g.54895325A>T, NC_000002.11:g.55122462A>G, NC_000002.11:g.55122462A>T, NM_001039753.4:c.2907A>G, NM_001039753.4:c.2907A>T, NM_001039753.3:c.2907A>G, NM_001039753.3:c.2907A>T, NM_001039753.2:c.2907A>G, NM_001039753.2:c.2907A>T, XM_017004098.3:c.2907A>G, XM_017004098.3:c.2907A>T, XM_017004098.2:c.2907A>G, XM_017004098.2:c.2907A>T, XM_017004098.1:c.2907A>G, XM_017004098.1:c.2907A>T, XM_017004100.3:c.2907A>G, XM_017004100.3:c.2907A>T, XM_017004100.2:c.2907A>G, XM_017004100.2:c.2907A>T, XM_017004100.1:c.2907A>G, XM_017004100.1:c.2907A>T, XM_017004101.2:c.1815A>G, XM_017004101.2:c.1815A>T, XM_017004101.1:c.1815A>G, XM_017004101.1:c.1815A>T, XR_001738743.2:n.3536A>G, XR_001738743.2:n.3536A>T, XR_001738743.1:n.3731A>G, XR_001738743.1:n.3731A>T, XM_017004102.2:c.2907A>G, XM_017004102.2:c.2907A>T, XM_017004102.1:c.2907A>G, XM_017004102.1:c.2907A>T, XM_047444299.1:c.2907A>G, XM_047444299.1:c.2907A>T, XM_047444300.1:c.2907A>G, XM_047444300.1:c.2907A>T, XM_047444302.1:c.2769A>G, XM_047444302.1:c.2769A>T, XM_047444315.1:c.2181A>G, XM_047444315.1:c.2181A>T

Select item 148586683213.

rs1485866832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:54853749 (GRCh38)
2:55080886 (GRCh37)
Canonical SPDI:: NC_000002.12:54853748:G:C
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54853749G>C, NC_000002.11:g.55080886G>C, NM_001039753.4:c.1551G>C, NM_001039753.3:c.1551G>C, NM_001039753.2:c.1551G>C, XM_017004098.3:c.1551G>C, XM_017004098.2:c.1551G>C, XM_017004098.1:c.1551G>C, XM_017004100.3:c.1551G>C, XM_017004100.2:c.1551G>C, XM_017004100.1:c.1551G>C, XM_017004101.2:c.459G>C, XM_017004101.1:c.459G>C, XR_001738743.2:n.2180G>C, XR_001738743.1:n.2375G>C, XM_017004102.2:c.1551G>C, XM_017004102.1:c.1551G>C, XM_047444299.1:c.1551G>C, XM_047444300.1:c.1551G>C, XM_047444302.1:c.1413G>C, XM_047444315.1:c.825G>C, NP_001034842.2:p.Glu517Asp, XP_016859587.1:p.Glu517Asp, XP_016859589.1:p.Glu517Asp, XP_016859590.1:p.Glu153Asp, XP_016859591.1:p.Glu517Asp, XP_047300255.1:p.Glu517Asp, XP_047300256.1:p.Glu517Asp, XP_047300258.1:p.Glu471Asp, XP_047300271.1:p.Glu275Asp

Select item 148574825914.

rs1485748259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54853850 (GRCh38)
2:55080987 (GRCh37)
Canonical SPDI:: NC_000002.12:54853849:A:G
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54853850A>G, NC_000002.11:g.55080987A>G, NM_001039753.4:c.1652A>G, NM_001039753.3:c.1652A>G, NM_001039753.2:c.1652A>G, XM_017004098.3:c.1652A>G, XM_017004098.2:c.1652A>G, XM_017004098.1:c.1652A>G, XM_017004100.3:c.1652A>G, XM_017004100.2:c.1652A>G, XM_017004100.1:c.1652A>G, XM_017004101.2:c.560A>G, XM_017004101.1:c.560A>G, XR_001738743.2:n.2281A>G, XR_001738743.1:n.2476A>G, XM_017004102.2:c.1652A>G, XM_017004102.1:c.1652A>G, XM_047444299.1:c.1652A>G, XM_047444300.1:c.1652A>G, XM_047444302.1:c.1514A>G, XM_047444315.1:c.926A>G, NP_001034842.2:p.Lys551Arg, XP_016859587.1:p.Lys551Arg, XP_016859589.1:p.Lys551Arg, XP_016859590.1:p.Lys187Arg, XP_016859591.1:p.Lys551Arg, XP_047300255.1:p.Lys551Arg, XP_047300256.1:p.Lys551Arg, XP_047300258.1:p.Lys505Arg, XP_047300271.1:p.Lys309Arg

Select item 148513713715.

rs1485137137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:54903440 (GRCh38)
2:55130577 (GRCh37)
Canonical SPDI:: NC_000002.12:54903439:A:G,NC_000002.12:54903439:A:T
Gene:: EML6 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54903440A>G, NC_000002.12:g.54903440A>T, NC_000002.11:g.55130577A>G, NC_000002.11:g.55130577A>T, NM_001039753.4:c.3347A>G, NM_001039753.4:c.3347A>T, NM_001039753.3:c.3347A>G, NM_001039753.3:c.3347A>T, NM_001039753.2:c.3347A>G, NM_001039753.2:c.3347A>T, XM_017004098.3:c.3347A>G, XM_017004098.3:c.3347A>T, XM_017004098.2:c.3347A>G, XM_017004098.2:c.3347A>T, XM_017004098.1:c.3347A>G, XM_017004098.1:c.3347A>T, XM_017004100.3:c.3347A>G, XM_017004100.3:c.3347A>T, XM_017004100.2:c.3347A>G, XM_017004100.2:c.3347A>T, XM_017004100.1:c.3347A>G, XM_017004100.1:c.3347A>T, XM_017004101.2:c.2255A>G, XM_017004101.2:c.2255A>T, XM_017004101.1:c.2255A>G, XM_017004101.1:c.2255A>T, XM_047444299.1:c.3347A>G, XM_047444299.1:c.3347A>T, XM_047444300.1:c.3347A>G, XM_047444300.1:c.3347A>T, XM_047444302.1:c.3209A>G, XM_047444302.1:c.3209A>T, XM_047444315.1:c.2621A>G, XM_047444315.1:c.2621A>T, NP_001034842.2:p.Lys1116Arg, NP_001034842.2:p.Lys1116Ile, XP_016859587.1:p.Lys1116Arg, XP_016859587.1:p.Lys1116Ile, XP_016859589.1:p.Lys1116Arg, XP_016859589.1:p.Lys1116Ile, XP_016859590.1:p.Lys752Arg, XP_016859590.1:p.Lys752Ile, XP_047300255.1:p.Lys1116Arg, XP_047300255.1:p.Lys1116Ile, XP_047300256.1:p.Lys1116Arg, XP_047300256.1:p.Lys1116Ile, XP_047300258.1:p.Lys1070Arg, XP_047300258.1:p.Lys1070Ile, XP_047300271.1:p.Lys874Arg, XP_047300271.1:p.Lys874Ile

Select item 148513609016.

rs1485136090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:54894958 (GRCh38)
2:55122095 (GRCh37)
Canonical SPDI:: NC_000002.12:54894957:A:T
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54894958A>T, NC_000002.11:g.55122095A>T, NM_001039753.4:c.2786A>T, NM_001039753.3:c.2786A>T, NM_001039753.2:c.2786A>T, XM_017004098.3:c.2786A>T, XM_017004098.2:c.2786A>T, XM_017004098.1:c.2786A>T, XM_017004100.3:c.2786A>T, XM_017004100.2:c.2786A>T, XM_017004100.1:c.2786A>T, XM_017004101.2:c.1694A>T, XM_017004101.1:c.1694A>T, XR_001738743.2:n.3415A>T, XR_001738743.1:n.3610A>T, XM_017004102.2:c.2786A>T, XM_017004102.1:c.2786A>T, XM_047444299.1:c.2786A>T, XM_047444300.1:c.2786A>T, XM_047444302.1:c.2648A>T, XM_047444315.1:c.2060A>T, NP_001034842.2:p.Asp929Val, XP_016859587.1:p.Asp929Val, XP_016859589.1:p.Asp929Val, XP_016859590.1:p.Asp565Val, XP_016859591.1:p.Asp929Val, XP_047300255.1:p.Asp929Val, XP_047300256.1:p.Asp929Val, XP_047300258.1:p.Asp883Val, XP_047300271.1:p.Asp687Val

Select item 148503482917.

rs1485034829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:54928361 (GRCh38)
2:55155498 (GRCh37)
Canonical SPDI:: NC_000002.12:54928360:A:C
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.54928361A>C, NC_000002.11:g.55155498A>C, NM_001039753.4:c.3724A>C, NM_001039753.3:c.3724A>C, NM_001039753.2:c.3724A>C, XM_017004098.3:c.3724A>C, XM_017004098.2:c.3724A>C, XM_017004098.1:c.3724A>C, XM_017004100.3:c.3724A>C, XM_017004100.2:c.3724A>C, XM_017004100.1:c.3724A>C, XM_017004101.2:c.2632A>C, XM_017004101.1:c.2632A>C, XM_047444299.1:c.3724A>C, XM_047444300.1:c.3724A>C, XM_047444302.1:c.3586A>C, XM_047444315.1:c.2998A>C, NP_001034842.2:p.Thr1242Pro, XP_016859587.1:p.Thr1242Pro, XP_016859589.1:p.Thr1242Pro, XP_016859590.1:p.Thr878Pro, XP_047300255.1:p.Thr1242Pro, XP_047300256.1:p.Thr1242Pro, XP_047300258.1:p.Thr1196Pro, XP_047300271.1:p.Thr1000Pro

Select item 148451558118.

rs1484515581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:54928406 (GRCh38)
2:55155543 (GRCh37)
Canonical SPDI:: NC_000002.12:54928405:G:A,NC_000002.12:54928405:G:C
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54928406G>A, NC_000002.12:g.54928406G>C, NC_000002.11:g.55155543G>A, NC_000002.11:g.55155543G>C, NM_001039753.4:c.3769G>A, NM_001039753.4:c.3769G>C, NM_001039753.3:c.3769G>A, NM_001039753.3:c.3769G>C, NM_001039753.2:c.3769G>A, NM_001039753.2:c.3769G>C, XM_017004098.3:c.3769G>A, XM_017004098.3:c.3769G>C, XM_017004098.2:c.3769G>A, XM_017004098.2:c.3769G>C, XM_017004098.1:c.3769G>A, XM_017004098.1:c.3769G>C, XM_017004100.3:c.3769G>A, XM_017004100.3:c.3769G>C, XM_017004100.2:c.3769G>A, XM_017004100.2:c.3769G>C, XM_017004100.1:c.3769G>A, XM_017004100.1:c.3769G>C, XM_017004101.2:c.2677G>A, XM_017004101.2:c.2677G>C, XM_017004101.1:c.2677G>A, XM_017004101.1:c.2677G>C, XM_047444299.1:c.3769G>A, XM_047444299.1:c.3769G>C, XM_047444300.1:c.3769G>A, XM_047444300.1:c.3769G>C, XM_047444302.1:c.3631G>A, XM_047444302.1:c.3631G>C, XM_047444315.1:c.3043G>A, XM_047444315.1:c.3043G>C, NP_001034842.2:p.Gly1257Ser, NP_001034842.2:p.Gly1257Arg, XP_016859587.1:p.Gly1257Ser, XP_016859587.1:p.Gly1257Arg, XP_016859589.1:p.Gly1257Ser, XP_016859589.1:p.Gly1257Arg, XP_016859590.1:p.Gly893Ser, XP_016859590.1:p.Gly893Arg, XP_047300255.1:p.Gly1257Ser, XP_047300255.1:p.Gly1257Arg, XP_047300256.1:p.Gly1257Ser, XP_047300256.1:p.Gly1257Arg, XP_047300258.1:p.Gly1211Ser, XP_047300258.1:p.Gly1211Arg, XP_047300271.1:p.Gly1015Ser, XP_047300271.1:p.Gly1015Arg

Select item 148426128819.

rs1484261288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54964586 (GRCh38)
2:55191722 (GRCh37)
Canonical SPDI:: NC_000002.12:54964585:C:T
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54964586C>T, NC_000002.11:g.55191722C>T, NM_001039753.4:c.5346C>T, NM_001039753.3:c.5346C>T, NM_001039753.2:c.5346C>T, XM_017004098.3:c.5370C>T, XM_017004098.2:c.5370C>T, XM_017004098.1:c.5370C>T, XM_017004100.3:c.5370C>T, XM_017004100.2:c.5370C>T, XM_017004100.1:c.5370C>T, XM_017004101.2:c.4278C>T, XM_017004101.1:c.4278C>T, XM_047444299.1:c.5370C>T, XM_047444300.1:c.5247C>T, XM_047444302.1:c.5208C>T, XM_047444315.1:c.4620C>T

Select item 148423178420.

rs1484231784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:54910981 (GRCh38)
2:55138118 (GRCh37)
Canonical SPDI:: NC_000002.12:54910980:C:G,NC_000002.12:54910980:C:T
Gene:: EML6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.54910981C>G, NC_000002.12:g.54910981C>T, NC_000002.11:g.55138118C>G, NC_000002.11:g.55138118C>T, NM_001039753.4:c.3437C>G, NM_001039753.4:c.3437C>T, NM_001039753.3:c.3437C>G, NM_001039753.3:c.3437C>T, NM_001039753.2:c.3437C>G, NM_001039753.2:c.3437C>T, XM_017004098.3:c.3437C>G, XM_017004098.3:c.3437C>T, XM_017004098.2:c.3437C>G, XM_017004098.2:c.3437C>T, XM_017004098.1:c.3437C>G, XM_017004098.1:c.3437C>T, XM_017004100.3:c.3437C>G, XM_017004100.3:c.3437C>T, XM_017004100.2:c.3437C>G, XM_017004100.2:c.3437C>T, XM_017004100.1:c.3437C>G, XM_017004100.1:c.3437C>T, XM_017004101.2:c.2345C>G, XM_017004101.2:c.2345C>T, XM_017004101.1:c.2345C>G, XM_017004101.1:c.2345C>T, XM_047444299.1:c.3437C>G, XM_047444299.1:c.3437C>T, XM_047444300.1:c.3437C>G, XM_047444300.1:c.3437C>T, XM_047444302.1:c.3299C>G, XM_047444302.1:c.3299C>T, XM_047444315.1:c.2711C>G, XM_047444315.1:c.2711C>T, NP_001034842.2:p.Ala1146Gly, NP_001034842.2:p.Ala1146Val, XP_016859587.1:p.Ala1146Gly, XP_016859587.1:p.Ala1146Val, XP_016859589.1:p.Ala1146Gly, XP_016859589.1:p.Ala1146Val, XP_016859590.1:p.Ala782Gly, XP_016859590.1:p.Ala782Val, XP_047300255.1:p.Ala1146Gly, XP_047300255.1:p.Ala1146Val, XP_047300256.1:p.Ala1146Gly, XP_047300256.1:p.Ala1146Val, XP_047300258.1:p.Ala1100Gly, XP_047300258.1:p.Ala1100Val, XP_047300271.1:p.Ala904Gly, XP_047300271.1:p.Ala904Val

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