SNP Links for Protein (Select 1034613960) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 1150

<< First< Prev

Page of 58

Select item 14897906731.

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 14891064462.

rs1489106446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54900784 (GRCh38)
2:55127921 (GRCh37)
Canonical SPDI:: NC_000002.12:54900783:C:T
Gene:: EML6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54900784C>T, NC_000002.11:g.55127921C>T, XM_017004102.2:c.3212C>T, XM_017004102.1:c.3212C>T, XP_016859591.1:p.Ala1071Val

Select item 14888348133.

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 14885044804.

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 14881154825.

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 14880837656.

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 14875762847.

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 14861097668.

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 14858668329.

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 148574825910.

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 148513609011.

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 148290759612.

rs1482907596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54725081 (GRCh38)
2:54952218 (GRCh37)
Canonical SPDI:: NC_000002.12:54725080:C:T
Gene:: EML6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.54725081C>T, NC_000002.11:g.54952218C>T, NM_001039753.4:c.20C>T, NM_001039753.3:c.20C>T, NM_001039753.2:c.20C>T, XM_017004098.3:c.20C>T, XM_017004098.2:c.20C>T, XM_017004098.1:c.20C>T, XM_017004100.3:c.20C>T, XM_017004100.2:c.20C>T, XM_017004100.1:c.20C>T, XR_001738743.2:n.649C>T, XR_001738743.1:n.844C>T, XM_017004102.2:c.20C>T, XM_017004102.1:c.20C>T, XM_047444299.1:c.20C>T, XM_047444300.1:c.20C>T, XM_047444302.1:c.20C>T, NP_001034842.2:p.Pro7Leu, XP_016859587.1:p.Pro7Leu, XP_016859589.1:p.Pro7Leu, XP_016859591.1:p.Pro7Leu, XP_047300255.1:p.Pro7Leu, XP_047300256.1:p.Pro7Leu, XP_047300258.1:p.Pro7Leu

Select item 148277838013.

rs1482778380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54895327 (GRCh38)
2:55122464 (GRCh37)
Canonical SPDI:: NC_000002.12:54895326:A:G
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54895327A>G, NC_000002.11:g.55122464A>G, NM_001039753.4:c.2909A>G, NM_001039753.3:c.2909A>G, NM_001039753.2:c.2909A>G, XM_017004098.3:c.2909A>G, XM_017004098.2:c.2909A>G, XM_017004098.1:c.2909A>G, XM_017004100.3:c.2909A>G, XM_017004100.2:c.2909A>G, XM_017004100.1:c.2909A>G, XM_017004101.2:c.1817A>G, XM_017004101.1:c.1817A>G, XR_001738743.2:n.3538A>G, XR_001738743.1:n.3733A>G, XM_017004102.2:c.2909A>G, XM_017004102.1:c.2909A>G, XM_047444299.1:c.2909A>G, XM_047444300.1:c.2909A>G, XM_047444302.1:c.2771A>G, XM_047444315.1:c.2183A>G, NP_001034842.2:p.His970Arg, XP_016859587.1:p.His970Arg, XP_016859589.1:p.His970Arg, XP_016859590.1:p.His606Arg, XP_016859591.1:p.His970Arg, XP_047300255.1:p.His970Arg, XP_047300256.1:p.His970Arg, XP_047300258.1:p.His924Arg, XP_047300271.1:p.His728Arg

Select item 148266453214.

rs1482664532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54844212 (GRCh38)
2:55071349 (GRCh37)
Canonical SPDI:: NC_000002.12:54844211:C:T
Gene:: EML6 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54844212C>T, NC_000002.11:g.55071349C>T, NM_001039753.4:c.1013C>T, NM_001039753.3:c.1013C>T, NM_001039753.2:c.1013C>T, XM_017004098.3:c.1013C>T, XM_017004098.2:c.1013C>T, XM_017004098.1:c.1013C>T, XM_017004100.3:c.1013C>T, XM_017004100.2:c.1013C>T, XM_017004100.1:c.1013C>T, XR_001738743.2:n.1642C>T, XR_001738743.1:n.1837C>T, XM_017004102.2:c.1013C>T, XM_017004102.1:c.1013C>T, XM_047444299.1:c.1013C>T, XM_047444300.1:c.1013C>T, XM_047444302.1:c.1013C>T, XM_047444315.1:c.287C>T, NP_001034842.2:p.Pro338Leu, XP_016859587.1:p.Pro338Leu, XP_016859589.1:p.Pro338Leu, XP_016859591.1:p.Pro338Leu, XP_047300255.1:p.Pro338Leu, XP_047300256.1:p.Pro338Leu, XP_047300258.1:p.Pro338Leu, XP_047300271.1:p.Pro96Leu

Select item 148194557615.

rs1481945576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54813250 (GRCh38)
2:55040387 (GRCh37)
Canonical SPDI:: NC_000002.12:54813249:C:T
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,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.54813250C>T, NC_000002.11:g.55040387C>T, NM_001039753.4:c.216C>T, NM_001039753.3:c.216C>T, NM_001039753.2:c.216C>T, XM_017004098.3:c.216C>T, XM_017004098.2:c.216C>T, XM_017004098.1:c.216C>T, XM_017004100.3:c.216C>T, XM_017004100.2:c.216C>T, XM_017004100.1:c.216C>T, XR_001738743.2:n.845C>T, XR_001738743.1:n.1040C>T, XM_017004102.2:c.216C>T, XM_017004102.1:c.216C>T, XM_047444299.1:c.216C>T, XM_047444300.1:c.216C>T, XM_047444302.1:c.216C>T, XM_047444315.1:c.-511C>T

Select item 148153388216.

rs1481533882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:54853784 (GRCh38)
2:55080921 (GRCh37)
Canonical SPDI:: NC_000002.12:54853783:A:G,NC_000002.12:54853783:A:T
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.54853784A>G, NC_000002.12:g.54853784A>T, NC_000002.11:g.55080921A>G, NC_000002.11:g.55080921A>T, NM_001039753.4:c.1586A>G, NM_001039753.4:c.1586A>T, NM_001039753.3:c.1586A>G, NM_001039753.3:c.1586A>T, NM_001039753.2:c.1586A>G, NM_001039753.2:c.1586A>T, XM_017004098.3:c.1586A>G, XM_017004098.3:c.1586A>T, XM_017004098.2:c.1586A>G, XM_017004098.2:c.1586A>T, XM_017004098.1:c.1586A>G, XM_017004098.1:c.1586A>T, XM_017004100.3:c.1586A>G, XM_017004100.3:c.1586A>T, XM_017004100.2:c.1586A>G, XM_017004100.2:c.1586A>T, XM_017004100.1:c.1586A>G, XM_017004100.1:c.1586A>T, XM_017004101.2:c.494A>G, XM_017004101.2:c.494A>T, XM_017004101.1:c.494A>G, XM_017004101.1:c.494A>T, XR_001738743.2:n.2215A>G, XR_001738743.2:n.2215A>T, XR_001738743.1:n.2410A>G, XR_001738743.1:n.2410A>T, XM_017004102.2:c.1586A>G, XM_017004102.2:c.1586A>T, XM_017004102.1:c.1586A>G, XM_017004102.1:c.1586A>T, XM_047444299.1:c.1586A>G, XM_047444299.1:c.1586A>T, XM_047444300.1:c.1586A>G, XM_047444300.1:c.1586A>T, XM_047444302.1:c.1448A>G, XM_047444302.1:c.1448A>T, XM_047444315.1:c.860A>G, XM_047444315.1:c.860A>T, NP_001034842.2:p.Asn529Ser, NP_001034842.2:p.Asn529Ile, XP_016859587.1:p.Asn529Ser, XP_016859587.1:p.Asn529Ile, XP_016859589.1:p.Asn529Ser, XP_016859589.1:p.Asn529Ile, XP_016859590.1:p.Asn165Ser, XP_016859590.1:p.Asn165Ile, XP_016859591.1:p.Asn529Ser, XP_016859591.1:p.Asn529Ile, XP_047300255.1:p.Asn529Ser, XP_047300255.1:p.Asn529Ile, XP_047300256.1:p.Asn529Ser, XP_047300256.1:p.Asn529Ile, XP_047300258.1:p.Asn483Ser, XP_047300258.1:p.Asn483Ile, XP_047300271.1:p.Asn287Ser, XP_047300271.1:p.Asn287Ile

Select item 147934895517.

rs1479348955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54850164 (GRCh38)
2:55077301 (GRCh37)
Canonical SPDI:: NC_000002.12:54850163:A:G
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_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=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.54850164A>G, NC_000002.11:g.55077301A>G, NM_001039753.4:c.1390A>G, NM_001039753.3:c.1390A>G, NM_001039753.2:c.1390A>G, XM_017004098.3:c.1390A>G, XM_017004098.2:c.1390A>G, XM_017004098.1:c.1390A>G, XM_017004100.3:c.1390A>G, XM_017004100.2:c.1390A>G, XM_017004100.1:c.1390A>G, XM_017004101.2:c.298A>G, XM_017004101.1:c.298A>G, XR_001738743.2:n.2019A>G, XR_001738743.1:n.2214A>G, XM_017004102.2:c.1390A>G, XM_017004102.1:c.1390A>G, XM_047444299.1:c.1390A>G, XM_047444300.1:c.1390A>G, XM_047444302.1:c.1252A>G, XM_047444315.1:c.664A>G, NP_001034842.2:p.Lys464Glu, XP_016859587.1:p.Lys464Glu, XP_016859589.1:p.Lys464Glu, XP_016859590.1:p.Lys100Glu, XP_016859591.1:p.Lys464Glu, XP_047300255.1:p.Lys464Glu, XP_047300256.1:p.Lys464Glu, XP_047300258.1:p.Lys418Glu, XP_047300271.1:p.Lys222Glu

Select item 147924236318.

rs1479242363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54859660 (GRCh38)
2:55086797 (GRCh37)
Canonical SPDI:: NC_000002.12:54859659: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=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.54859660C>T, NC_000002.11:g.55086797C>T, NM_001039753.4:c.1784C>T, NM_001039753.3:c.1784C>T, NM_001039753.2:c.1784C>T, XM_017004098.3:c.1784C>T, XM_017004098.2:c.1784C>T, XM_017004098.1:c.1784C>T, XM_017004100.3:c.1784C>T, XM_017004100.2:c.1784C>T, XM_017004100.1:c.1784C>T, XM_017004101.2:c.692C>T, XM_017004101.1:c.692C>T, XR_001738743.2:n.2413C>T, XR_001738743.1:n.2608C>T, XM_017004102.2:c.1784C>T, XM_017004102.1:c.1784C>T, XM_047444299.1:c.1784C>T, XM_047444300.1:c.1784C>T, XM_047444302.1:c.1646C>T, XM_047444315.1:c.1058C>T, NP_001034842.2:p.Pro595Leu, XP_016859587.1:p.Pro595Leu, XP_016859589.1:p.Pro595Leu, XP_016859590.1:p.Pro231Leu, XP_016859591.1:p.Pro595Leu, XP_047300255.1:p.Pro595Leu, XP_047300256.1:p.Pro595Leu, XP_047300258.1:p.Pro549Leu, XP_047300271.1:p.Pro353Leu

Select item 147859522819.

rs1478595228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54869264 (GRCh38)
2:55096401 (GRCh37)
Canonical SPDI:: NC_000002.12:54869263:T:C
Gene:: EML6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54869264T>C, NC_000002.11:g.55096401T>C, NM_001039753.4:c.2135T>C, NM_001039753.3:c.2135T>C, NM_001039753.2:c.2135T>C, XM_017004098.3:c.2135T>C, XM_017004098.2:c.2135T>C, XM_017004098.1:c.2135T>C, XM_017004100.3:c.2135T>C, XM_017004100.2:c.2135T>C, XM_017004100.1:c.2135T>C, XM_017004101.2:c.1043T>C, XM_017004101.1:c.1043T>C, XR_001738743.2:n.2764T>C, XR_001738743.1:n.2959T>C, XM_017004102.2:c.2135T>C, XM_017004102.1:c.2135T>C, XM_047444299.1:c.2135T>C, XM_047444300.1:c.2135T>C, XM_047444302.1:c.1997T>C, XM_047444315.1:c.1409T>C, NP_001034842.2:p.Val712Ala, XP_016859587.1:p.Val712Ala, XP_016859589.1:p.Val712Ala, XP_016859590.1:p.Val348Ala, XP_016859591.1:p.Val712Ala, XP_047300255.1:p.Val712Ala, XP_047300256.1:p.Val712Ala, XP_047300258.1:p.Val666Ala, XP_047300271.1:p.Val470Ala

Select item 147847305020.

rs1478473050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54844133 (GRCh38)
2:55071270 (GRCh37)
Canonical SPDI:: NC_000002.12:54844132:G:A
Gene:: EML6 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54844133G>A, NC_000002.11:g.55071270G>A, NM_001039753.4:c.934G>A, NM_001039753.3:c.934G>A, NM_001039753.2:c.934G>A, XM_017004098.3:c.934G>A, XM_017004098.2:c.934G>A, XM_017004098.1:c.934G>A, XM_017004100.3:c.934G>A, XM_017004100.2:c.934G>A, XM_017004100.1:c.934G>A, XR_001738743.2:n.1563G>A, XR_001738743.1:n.1758G>A, XM_017004102.2:c.934G>A, XM_017004102.1:c.934G>A, XM_047444299.1:c.934G>A, XM_047444300.1:c.934G>A, XM_047444302.1:c.934G>A, XM_047444315.1:c.208G>A, NP_001034842.2:p.Glu312Lys, XP_016859587.1:p.Glu312Lys, XP_016859589.1:p.Glu312Lys, XP_016859591.1:p.Glu312Lys, XP_047300255.1:p.Glu312Lys, XP_047300256.1:p.Glu312Lys, XP_047300258.1:p.Glu312Lys, XP_047300271.1:p.Glu70Lys

<< First< Prev

Page of 58

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1034613960) (1150)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...