SNP Links for Protein (Select 578812723) - SNP

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

Links from Protein

Items: 1 to 20 of 926

<< First< Prev

Page of 47

Next >Last >>

Select item 14909910461.

rs1490991046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:138902557 (GRCh38)
6:139223694 (GRCh37)
Canonical SPDI:: NC_000006.12:138902556:A:C,NC_000006.12:138902556:A:G
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.138902557A>C, NC_000006.12:g.138902557A>G, NC_000006.11:g.139223694A>C, NC_000006.11:g.139223694A>G, NG_034016.1:g.90705T>G, NG_034016.1:g.90705T>C, XM_006715472.4:c.2771A>C, XM_006715472.4:c.2771A>G, XM_006715472.3:c.2771A>C, XM_006715472.3:c.2771A>G, XM_006715472.2:c.2771A>C, XM_006715472.2:c.2771A>G, XM_006715472.1:c.2771A>C, XM_006715472.1:c.2771A>G, NM_001077706.3:c.2645A>C, NM_001077706.3:c.2645A>G, NM_001077706.2:c.2645A>C, NM_001077706.2:c.2645A>G, XM_011535795.3:c.2771A>C, XM_011535795.3:c.2771A>G, XM_011535795.2:c.2771A>C, XM_011535795.2:c.2771A>G, XM_011535795.1:c.2771A>C, XM_011535795.1:c.2771A>G, XM_011535797.3:c.2564A>C, XM_011535797.3:c.2564A>G, XM_011535797.2:c.2564A>C, XM_011535797.2:c.2564A>G, XM_011535797.1:c.2564A>C, XM_011535797.1:c.2564A>G, XM_017010828.2:c.2771A>C, XM_017010828.2:c.2771A>G, XM_017010828.1:c.2771A>C, XM_017010828.1:c.2771A>G, XM_017010829.2:c.2678A>C, XM_017010829.2:c.2678A>G, XM_017010829.1:c.2678A>C, XM_017010829.1:c.2678A>G, NM_001195037.2:c.2645A>C, NM_001195037.2:c.2645A>G, XP_006715535.1:p.Glu924Ala, XP_006715535.1:p.Glu924Gly, NP_001071174.1:p.Glu882Ala, NP_001071174.1:p.Glu882Gly, XP_011534097.1:p.Glu924Ala, XP_011534097.1:p.Glu924Gly, XP_011534099.1:p.Glu855Ala, XP_011534099.1:p.Glu855Gly, XP_016866317.1:p.Glu924Ala, XP_016866317.1:p.Glu924Gly, XP_016866318.1:p.Glu893Ala, XP_016866318.1:p.Glu893Gly, NP_001181966.1:p.Glu882Ala, NP_001181966.1:p.Glu882Gly

Select item 14909080602.

rs1490908060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138865035 (GRCh38)
6:139186172 (GRCh37)
Canonical SPDI:: NC_000006.12:138865034:C:T
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.138865035C>T, NC_000006.11:g.139186172C>T, XM_006715472.4:c.1331C>T, XM_006715472.3:c.1331C>T, XM_006715472.2:c.1331C>T, XM_006715472.1:c.1331C>T, NM_001077706.3:c.1331C>T, NM_001077706.2:c.1331C>T, XM_011535795.3:c.1331C>T, XM_011535795.2:c.1331C>T, XM_011535795.1:c.1331C>T, XM_011535797.3:c.1124C>T, XM_011535797.2:c.1124C>T, XM_011535797.1:c.1124C>T, XM_017010828.2:c.1331C>T, XM_017010828.1:c.1331C>T, XM_017010829.2:c.1238C>T, XM_017010829.1:c.1238C>T, NM_001195037.2:c.1331C>T, XM_017010830.2:c.1331C>T, XM_017010830.1:c.1331C>T, XP_006715535.1:p.Pro444Leu, NP_001071174.1:p.Pro444Leu, XP_011534097.1:p.Pro444Leu, XP_011534099.1:p.Pro375Leu, XP_016866317.1:p.Pro444Leu, XP_016866318.1:p.Pro413Leu, NP_001181966.1:p.Pro444Leu, XP_016866319.1:p.Pro444Leu

Select item 14902752013.

rs1490275201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138868134 (GRCh38)
6:139189271 (GRCh37)
Canonical SPDI:: NC_000006.12:138868133:C:T
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138868134C>T, NC_000006.11:g.139189271C>T, XM_006715472.4:c.1506C>T, XM_006715472.3:c.1506C>T, XM_006715472.2:c.1506C>T, XM_006715472.1:c.1506C>T, NM_001077706.3:c.1506C>T, NM_001077706.2:c.1506C>T, XM_011535795.3:c.1506C>T, XM_011535795.2:c.1506C>T, XM_011535795.1:c.1506C>T, XM_011535797.3:c.1299C>T, XM_011535797.2:c.1299C>T, XM_011535797.1:c.1299C>T, XM_017010828.2:c.1506C>T, XM_017010828.1:c.1506C>T, XM_017010829.2:c.1413C>T, XM_017010829.1:c.1413C>T, NM_001195037.2:c.1506C>T, XM_017010830.2:c.1506C>T, XM_017010830.1:c.1506C>T

Select item 14885615484.

rs1488561548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:138849311 (GRCh38)
6:139170448 (GRCh37)
Canonical SPDI:: NC_000006.12:138849310:T:C
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.138849311T>C, NC_000006.11:g.139170448T>C, XM_006715472.4:c.946T>C, XM_006715472.3:c.946T>C, XM_006715472.2:c.946T>C, XM_006715472.1:c.946T>C, NM_001077706.3:c.946T>C, NM_001077706.2:c.946T>C, XM_011535795.3:c.946T>C, XM_011535795.2:c.946T>C, XM_011535795.1:c.946T>C, XM_011535797.3:c.739T>C, XM_011535797.2:c.739T>C, XM_011535797.1:c.739T>C, XM_017010828.2:c.946T>C, XM_017010828.1:c.946T>C, XM_017010829.2:c.946T>C, XM_017010829.1:c.946T>C, NM_001195037.2:c.946T>C, XM_017010830.2:c.946T>C, XM_017010830.1:c.946T>C, XP_006715535.1:p.Tyr316His, NP_001071174.1:p.Tyr316His, XP_011534097.1:p.Tyr316His, XP_011534099.1:p.Tyr247His, XP_016866317.1:p.Tyr316His, XP_016866318.1:p.Tyr316His, NP_001181966.1:p.Tyr316His, XP_016866319.1:p.Tyr316His

Select item 14879037295.

rs1487903729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138843219 (GRCh38)
6:139164356 (GRCh37)
Canonical SPDI:: NC_000006.12:138843218:G:A
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.138843219G>A, NC_000006.11:g.139164356G>A, XM_006715472.4:c.583G>A, XM_006715472.3:c.583G>A, XM_006715472.2:c.583G>A, XM_006715472.1:c.583G>A, NM_001077706.3:c.583G>A, NM_001077706.2:c.583G>A, XM_011535795.3:c.583G>A, XM_011535795.2:c.583G>A, XM_011535795.1:c.583G>A, XM_011535797.3:c.376G>A, XM_011535797.2:c.376G>A, XM_011535797.1:c.376G>A, XM_017010828.2:c.583G>A, XM_017010828.1:c.583G>A, XM_017010829.2:c.583G>A, XM_017010829.1:c.583G>A, NM_001195037.2:c.583G>A, XM_017010830.2:c.583G>A, XM_017010830.1:c.583G>A, XP_006715535.1:p.Ala195Thr, NP_001071174.1:p.Ala195Thr, XP_011534097.1:p.Ala195Thr, XP_011534099.1:p.Ala126Thr, XP_016866317.1:p.Ala195Thr, XP_016866318.1:p.Ala195Thr, NP_001181966.1:p.Ala195Thr, XP_016866319.1:p.Ala195Thr

Select item 14866501636.

rs1486650163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:138868199 (GRCh38)
6:139189336 (GRCh37)
Canonical SPDI:: NC_000006.12:138868198:A:C
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.138868199A>C, NC_000006.11:g.139189336A>C, XM_006715472.4:c.1571A>C, XM_006715472.3:c.1571A>C, XM_006715472.2:c.1571A>C, XM_006715472.1:c.1571A>C, NM_001077706.3:c.1571A>C, NM_001077706.2:c.1571A>C, XM_011535795.3:c.1571A>C, XM_011535795.2:c.1571A>C, XM_011535795.1:c.1571A>C, XM_011535797.3:c.1364A>C, XM_011535797.2:c.1364A>C, XM_011535797.1:c.1364A>C, XM_017010828.2:c.1571A>C, XM_017010828.1:c.1571A>C, XM_017010829.2:c.1478A>C, XM_017010829.1:c.1478A>C, NM_001195037.2:c.1571A>C, XM_017010830.2:c.1571A>C, XM_017010830.1:c.1571A>C, XP_006715535.1:p.Glu524Ala, NP_001071174.1:p.Glu524Ala, XP_011534097.1:p.Glu524Ala, XP_011534099.1:p.Glu455Ala, XP_016866317.1:p.Glu524Ala, XP_016866318.1:p.Glu493Ala, NP_001181966.1:p.Glu524Ala, XP_016866319.1:p.Glu524Ala

Select item 14865985757.

rs1486598575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:138882817 (GRCh38)
6:139203954 (GRCh37)
Canonical SPDI:: NC_000006.12:138882816:C:A,NC_000006.12:138882816:C:T
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.138882817C>A, NC_000006.12:g.138882817C>T, NC_000006.11:g.139203954C>A, NC_000006.11:g.139203954C>T, XM_006715472.4:c.2100C>A, XM_006715472.4:c.2100C>T, XM_006715472.3:c.2100C>A, XM_006715472.3:c.2100C>T, XM_006715472.2:c.2100C>A, XM_006715472.2:c.2100C>T, XM_006715472.1:c.2100C>A, XM_006715472.1:c.2100C>T, NM_001077706.3:c.1974C>A, NM_001077706.3:c.1974C>T, NM_001077706.2:c.1974C>A, NM_001077706.2:c.1974C>T, XM_011535795.3:c.2100C>A, XM_011535795.3:c.2100C>T, XM_011535795.2:c.2100C>A, XM_011535795.2:c.2100C>T, XM_011535795.1:c.2100C>A, XM_011535795.1:c.2100C>T, XM_011535797.3:c.1893C>A, XM_011535797.3:c.1893C>T, XM_011535797.2:c.1893C>A, XM_011535797.2:c.1893C>T, XM_011535797.1:c.1893C>A, XM_011535797.1:c.1893C>T, XM_017010828.2:c.2100C>A, XM_017010828.2:c.2100C>T, XM_017010828.1:c.2100C>A, XM_017010828.1:c.2100C>T, XM_017010829.2:c.2007C>A, XM_017010829.2:c.2007C>T, XM_017010829.1:c.2007C>A, XM_017010829.1:c.2007C>T, NM_001195037.2:c.1974C>A, NM_001195037.2:c.1974C>T, XP_006715535.1:p.Asn700Lys, NP_001071174.1:p.Asn658Lys, XP_011534097.1:p.Asn700Lys, XP_011534099.1:p.Asn631Lys, XP_016866317.1:p.Asn700Lys, XP_016866318.1:p.Asn669Lys, NP_001181966.1:p.Asn658Lys

Select item 14852258618.

rs1485225861 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:138885818 (GRCh38)
6:139206955 (GRCh37)
Canonical SPDI:: NC_000006.12:138885817:TT:T
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.138885819del, NC_000006.11:g.139206956del, XM_006715472.4:c.2374del, XM_006715472.3:c.2374del, XM_006715472.2:c.2374del, XM_006715472.1:c.2374del, NM_001077706.3:c.2248del, NM_001077706.2:c.2248del, XM_011535795.3:c.2374del, XM_011535795.2:c.2374del, XM_011535795.1:c.2374del, XM_011535797.3:c.2167del, XM_011535797.2:c.2167del, XM_011535797.1:c.2167del, XM_017010828.2:c.2374del, XM_017010828.1:c.2374del, XM_017010829.2:c.2281del, XM_017010829.1:c.2281del, NM_001195037.2:c.2248del, XP_006715535.1:p.Tyr792fs, NP_001071174.1:p.Tyr750fs, XP_011534097.1:p.Tyr792fs, XP_011534099.1:p.Tyr723fs, XP_016866317.1:p.Tyr792fs, XP_016866318.1:p.Tyr761fs, NP_001181966.1:p.Tyr750fs

Select item 14823722849.

rs1482372284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:138862705 (GRCh38)
6:139183842 (GRCh37)
Canonical SPDI:: NC_000006.12:138862704:G:T
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.138862705G>T, NC_000006.11:g.139183842G>T, XM_006715472.4:c.1277G>T, XM_006715472.3:c.1277G>T, XM_006715472.2:c.1277G>T, XM_006715472.1:c.1277G>T, NM_001077706.3:c.1277G>T, NM_001077706.2:c.1277G>T, XM_011535795.3:c.1277G>T, XM_011535795.2:c.1277G>T, XM_011535795.1:c.1277G>T, XM_011535797.3:c.1070G>T, XM_011535797.2:c.1070G>T, XM_011535797.1:c.1070G>T, XM_017010828.2:c.1277G>T, XM_017010828.1:c.1277G>T, NM_001195037.2:c.1277G>T, XM_017010830.2:c.1277G>T, XM_017010830.1:c.1277G>T, XP_006715535.1:p.Gly426Val, NP_001071174.1:p.Gly426Val, XP_011534097.1:p.Gly426Val, XP_011534099.1:p.Gly357Val, XP_016866317.1:p.Gly426Val, NP_001181966.1:p.Gly426Val, XP_016866319.1:p.Gly426Val

Select item 148150293110.

rs1481502931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138865120 (GRCh38)
6:139186257 (GRCh37)
Canonical SPDI:: NC_000006.12:138865119:G:A
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000006.12:g.138865120G>A, NC_000006.11:g.139186257G>A, XM_006715472.4:c.1416G>A, XM_006715472.3:c.1416G>A, XM_006715472.2:c.1416G>A, XM_006715472.1:c.1416G>A, NM_001077706.3:c.1416G>A, NM_001077706.2:c.1416G>A, XM_011535795.3:c.1416G>A, XM_011535795.2:c.1416G>A, XM_011535795.1:c.1416G>A, XM_011535797.3:c.1209G>A, XM_011535797.2:c.1209G>A, XM_011535797.1:c.1209G>A, XM_017010828.2:c.1416G>A, XM_017010828.1:c.1416G>A, XM_017010829.2:c.1323G>A, XM_017010829.1:c.1323G>A, NM_001195037.2:c.1416G>A, XM_017010830.2:c.1416G>A, XM_017010830.1:c.1416G>A

Select item 148146639611.

rs1481466396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:138844450 (GRCh38)
6:139165587 (GRCh37)
Canonical SPDI:: NC_000006.12:138844449:A:G
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138844450A>G, NC_000006.11:g.139165587A>G, XM_006715472.4:c.634A>G, XM_006715472.3:c.634A>G, XM_006715472.2:c.634A>G, XM_006715472.1:c.634A>G, NM_001077706.3:c.634A>G, NM_001077706.2:c.634A>G, XM_011535795.3:c.634A>G, XM_011535795.2:c.634A>G, XM_011535795.1:c.634A>G, XM_011535797.3:c.427A>G, XM_011535797.2:c.427A>G, XM_011535797.1:c.427A>G, XM_017010828.2:c.634A>G, XM_017010828.1:c.634A>G, XM_017010829.2:c.634A>G, XM_017010829.1:c.634A>G, NM_001195037.2:c.634A>G, XM_017010830.2:c.634A>G, XM_017010830.1:c.634A>G, XP_006715535.1:p.Thr212Ala, NP_001071174.1:p.Thr212Ala, XP_011534097.1:p.Thr212Ala, XP_011534099.1:p.Thr143Ala, XP_016866317.1:p.Thr212Ala, XP_016866318.1:p.Thr212Ala, NP_001181966.1:p.Thr212Ala, XP_016866319.1:p.Thr212Ala

Select item 148044373712.

rs1480443737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:138880961 (GRCh38)
6:139202098 (GRCh37)
Canonical SPDI:: NC_000006.12:138880960:G:T
Gene:: ECT2L (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.138880961G>T, NC_000006.11:g.139202098G>T, XM_006715472.4:c.1796G>T, XM_006715472.3:c.1796G>T, XM_006715472.2:c.1796G>T, XM_006715472.1:c.1796G>T, NM_001077706.3:c.1670G>T, NM_001077706.2:c.1670G>T, XM_011535795.3:c.1796G>T, XM_011535795.2:c.1796G>T, XM_011535795.1:c.1796G>T, XM_011535797.3:c.1589G>T, XM_011535797.2:c.1589G>T, XM_011535797.1:c.1589G>T, XM_017010828.2:c.1796G>T, XM_017010828.1:c.1796G>T, XM_017010829.2:c.1703G>T, XM_017010829.1:c.1703G>T, NM_001195037.2:c.1670G>T, XP_006715535.1:p.Arg599Ile, NP_001071174.1:p.Arg557Ile, XP_011534097.1:p.Arg599Ile, XP_011534099.1:p.Arg530Ile, XP_016866317.1:p.Arg599Ile, XP_016866318.1:p.Arg568Ile, NP_001181966.1:p.Arg557Ile

Select item 147902890313.

rs1479028903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:138889023 (GRCh38)
6:139210160 (GRCh37)
Canonical SPDI:: NC_000006.12:138889022:C:T
Gene:: ECT2L (Varview), LOC107986650 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.138889023C>T, NC_000006.11:g.139210160C>T, XM_006715472.4:c.2532C>T, XM_006715472.3:c.2532C>T, XM_006715472.2:c.2532C>T, XM_006715472.1:c.2532C>T, NM_001077706.3:c.2406C>T, NM_001077706.2:c.2406C>T, XM_011535795.3:c.2532C>T, XM_011535795.2:c.2532C>T, XM_011535795.1:c.2532C>T, XM_011535797.3:c.2325C>T, XM_011535797.2:c.2325C>T, XM_011535797.1:c.2325C>T, XM_017010828.2:c.2532C>T, XM_017010828.1:c.2532C>T, XM_017010829.2:c.2439C>T, XM_017010829.1:c.2439C>T, NM_001195037.2:c.2406C>T, XR_001744381.2:n.2290G>A

Select item 147694924714.

rs1476949247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138814499 (GRCh38)
6:139135636 (GRCh37)
Canonical SPDI:: NC_000006.12:138814498:G:A
Gene:: ECT2L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.138814499G>A, NC_000006.11:g.139135636G>A, XM_006715472.4:c.75G>A, XM_006715472.3:c.75G>A, XM_006715472.2:c.75G>A, XM_006715472.1:c.75G>A, NM_001077706.3:c.75G>A, NM_001077706.2:c.75G>A, XM_011535795.3:c.75G>A, XM_011535795.2:c.75G>A, XM_011535795.1:c.75G>A, XM_017010828.2:c.75G>A, XM_017010828.1:c.75G>A, XM_017010829.2:c.75G>A, XM_017010829.1:c.75G>A, NM_001195037.2:c.75G>A, XM_017010830.2:c.75G>A, XM_017010830.1:c.75G>A

Select item 147272641415.

rs1472726414 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:138865020 (GRCh38)
6:139186157 (GRCh37)
Canonical SPDI:: NC_000006.12:138865019:AA:A
Gene:: ECT2L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.001026/17 (TOMMO)
HGVS:: NC_000006.12:g.138865021del, NC_000006.11:g.139186158del, XM_006715472.4:c.1317del, XM_006715472.3:c.1317del, XM_006715472.2:c.1317del, XM_006715472.1:c.1317del, NM_001077706.3:c.1317del, NM_001077706.2:c.1317del, XM_011535795.3:c.1317del, XM_011535795.2:c.1317del, XM_011535795.1:c.1317del, XM_011535797.3:c.1110del, XM_011535797.2:c.1110del, XM_011535797.1:c.1110del, XM_017010828.2:c.1317del, XM_017010828.1:c.1317del, XM_017010829.2:c.1224del, XM_017010829.1:c.1224del, NM_001195037.2:c.1317del, XM_017010830.2:c.1317del, XM_017010830.1:c.1317del, XP_006715535.1:p.Gln439fs, NP_001071174.1:p.Gln439fs, XP_011534097.1:p.Gln439fs, XP_011534099.1:p.Gln370fs, XP_016866317.1:p.Gln439fs, XP_016866318.1:p.Gln408fs, NP_001181966.1:p.Gln439fs, XP_016866319.1:p.Gln439fs

Select item 147257402416.

rs1472574024 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCCGGGCGCGGTGGCTCACGCCTGT [Show Flanks]
Chromosome:: 6:138865120 (GRCh38)
6:139186258 (GRCh37)
Canonical SPDI:: NC_000006.12:138865120::GCCGGGCGCGGTGGCTCACGCCTGT
Gene:: ECT2L (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,inframe_indel
HGVS:: NC_000006.12:g.138865120_138865121insGCCGGGCGCGGTGGCTCACGCCTGT, NC_000006.11:g.139186257_139186258insGCCGGGCGCGGTGGCTCACGCCTGT, XM_006715472.4:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_006715472.3:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_006715472.2:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_006715472.1:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, NM_001077706.3:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, NM_001077706.2:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_011535795.3:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_011535795.2:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_011535795.1:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_011535797.3:c.1209_1210insGCCGGGCGCGGTGGCTCACGCCTGT, XM_011535797.2:c.1209_1210insGCCGGGCGCGGTGGCTCACGCCTGT, XM_011535797.1:c.1209_1210insGCCGGGCGCGGTGGCTCACGCCTGT, XM_017010828.2:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_017010828.1:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_017010829.2:c.1323_1324insGCCGGGCGCGGTGGCTCACGCCTGT, XM_017010829.1:c.1323_1324insGCCGGGCGCGGTGGCTCACGCCTGT, NM_001195037.2:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_017010830.2:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XM_017010830.1:c.1416_1417insGCCGGGCGCGGTGGCTCACGCCTGT, XP_006715535.1:p.Lys473delinsAlaGlyArgGlyGlySerArgLeuTer, NP_001071174.1:p.Lys473delinsAlaGlyArgGlyGlySerArgLeuTer, XP_011534097.1:p.Lys473delinsAlaGlyArgGlyGlySerArgLeuTer, XP_011534099.1:p.Lys404delinsAlaGlyArgGlyGlySerArgLeuTer, XP_016866317.1:p.Lys473delinsAlaGlyArgGlyGlySerArgLeuTer, XP_016866318.1:p.Lys442delinsAlaGlyArgGlyGlySerArgLeuTer, NP_001181966.1:p.Lys473delinsAlaGlyArgGlyGlySerArgLeuTer, XP_016866319.1:p.Lys473delinsAlaGlyArgGlyGlySerArgLeuTer

Select item 147206111717.

rs1472061117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:138881160 (GRCh38)
6:139202297 (GRCh37)
Canonical SPDI:: NC_000006.12:138881159:A:G
Gene:: ECT2L (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.138881160A>G, NC_000006.11:g.139202297A>G, XM_006715472.4:c.1995A>G, XM_006715472.3:c.1995A>G, XM_006715472.2:c.1995A>G, XM_006715472.1:c.1995A>G, NM_001077706.3:c.1869A>G, NM_001077706.2:c.1869A>G, XM_011535795.3:c.1995A>G, XM_011535795.2:c.1995A>G, XM_011535795.1:c.1995A>G, XM_011535797.3:c.1788A>G, XM_011535797.2:c.1788A>G, XM_011535797.1:c.1788A>G, XM_017010828.2:c.1995A>G, XM_017010828.1:c.1995A>G, XM_017010829.2:c.1902A>G, XM_017010829.1:c.1902A>G, NM_001195037.2:c.1869A>G

Select item 147069171818.

rs1470691718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:138838476 (GRCh38)
6:139159613 (GRCh37)
Canonical SPDI:: NC_000006.12:138838475:G:A
Gene:: ECT2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.138838476G>A, NC_000006.11:g.139159613G>A, XM_006715472.4:c.304G>A, XM_006715472.3:c.304G>A, XM_006715472.2:c.304G>A, XM_006715472.1:c.304G>A, NM_001077706.3:c.304G>A, NM_001077706.2:c.304G>A, XM_011535795.3:c.304G>A, XM_011535795.2:c.304G>A, XM_011535795.1:c.304G>A, XM_011535797.3:c.97G>A, XM_011535797.2:c.97G>A, XM_011535797.1:c.97G>A, XM_017010828.2:c.304G>A, XM_017010828.1:c.304G>A, XM_017010829.2:c.304G>A, XM_017010829.1:c.304G>A, NM_001195037.2:c.304G>A, XM_017010830.2:c.304G>A, XM_017010830.1:c.304G>A, XP_006715535.1:p.Ala102Thr, NP_001071174.1:p.Ala102Thr, XP_011534097.1:p.Ala102Thr, XP_011534099.1:p.Ala33Thr, XP_016866317.1:p.Ala102Thr, XP_016866318.1:p.Ala102Thr, NP_001181966.1:p.Ala102Thr, XP_016866319.1:p.Ala102Thr

Select item 146688284119.

rs1466882841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:138854026 (GRCh38)
6:139175163 (GRCh37)
Canonical SPDI:: NC_000006.12:138854025:G:A,NC_000006.12:138854025:G:T
Gene:: ECT2L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.138854026G>A, NC_000006.12:g.138854026G>T, NC_000006.11:g.139175163G>A, NC_000006.11:g.139175163G>T, XM_006715472.4:c.1070G>A, XM_006715472.4:c.1070G>T, XM_006715472.3:c.1070G>A, XM_006715472.3:c.1070G>T, XM_006715472.2:c.1070G>A, XM_006715472.2:c.1070G>T, XM_006715472.1:c.1070G>A, XM_006715472.1:c.1070G>T, NM_001077706.3:c.1070G>A, NM_001077706.3:c.1070G>T, NM_001077706.2:c.1070G>A, NM_001077706.2:c.1070G>T, XM_011535795.3:c.1070G>A, XM_011535795.3:c.1070G>T, XM_011535795.2:c.1070G>A, XM_011535795.2:c.1070G>T, XM_011535795.1:c.1070G>A, XM_011535795.1:c.1070G>T, XM_011535797.3:c.863G>A, XM_011535797.3:c.863G>T, XM_011535797.2:c.863G>A, XM_011535797.2:c.863G>T, XM_011535797.1:c.863G>A, XM_011535797.1:c.863G>T, XM_017010828.2:c.1070G>A, XM_017010828.2:c.1070G>T, XM_017010828.1:c.1070G>A, XM_017010828.1:c.1070G>T, XM_017010829.2:c.1070G>A, XM_017010829.2:c.1070G>T, XM_017010829.1:c.1070G>A, XM_017010829.1:c.1070G>T, NM_001195037.2:c.1070G>A, NM_001195037.2:c.1070G>T, XM_017010830.2:c.1070G>A, XM_017010830.2:c.1070G>T, XM_017010830.1:c.1070G>A, XM_017010830.1:c.1070G>T, XP_006715535.1:p.Gly357Asp, XP_006715535.1:p.Gly357Val, NP_001071174.1:p.Gly357Asp, NP_001071174.1:p.Gly357Val, XP_011534097.1:p.Gly357Asp, XP_011534097.1:p.Gly357Val, XP_011534099.1:p.Gly288Asp, XP_011534099.1:p.Gly288Val, XP_016866317.1:p.Gly357Asp, XP_016866317.1:p.Gly357Val, XP_016866318.1:p.Gly357Asp, XP_016866318.1:p.Gly357Val, NP_001181966.1:p.Gly357Asp, NP_001181966.1:p.Gly357Val, XP_016866319.1:p.Gly357Asp, XP_016866319.1:p.Gly357Val

Select item 146450443220.

rs1464504432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:138885791 (GRCh38)
6:139206928 (GRCh37)
Canonical SPDI:: NC_000006.12:138885790:A:C
Gene:: ECT2L (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.138885791A>C, NC_000006.11:g.139206928A>C, XM_006715472.4:c.2346A>C, XM_006715472.3:c.2346A>C, XM_006715472.2:c.2346A>C, XM_006715472.1:c.2346A>C, NM_001077706.3:c.2220A>C, NM_001077706.2:c.2220A>C, XM_011535795.3:c.2346A>C, XM_011535795.2:c.2346A>C, XM_011535795.1:c.2346A>C, XM_011535797.3:c.2139A>C, XM_011535797.2:c.2139A>C, XM_011535797.1:c.2139A>C, XM_017010828.2:c.2346A>C, XM_017010828.1:c.2346A>C, XM_017010829.2:c.2253A>C, XM_017010829.1:c.2253A>C, NM_001195037.2:c.2220A>C

<< First< Prev

Page of 47

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 578812723) (926)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: