SNP Links for Protein (Select 1034606687) - SNP

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Links from Protein

Items: 1 to 20 of 286

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Select item 14852841761.

rs1485284176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38815715 (GRCh38)
19:39306355 (GRCh37)
Canonical SPDI:: NC_000019.10:38815714:C:T
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38815715C>T, NC_000019.9:g.39306355C>T, NW_014040929.1:g.225387C>T, NM_001398.3:c.885G>A, NM_001398.2:c.885G>A, XM_017026448.2:c.645G>A, XM_017026448.1:c.645G>A

Select item 14780315292.

rs1478031529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38817519 (GRCh38)
19:39308159 (GRCh37)
Canonical SPDI:: NC_000019.10:38817518:C:A
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.38817519C>A, NC_000019.9:g.39308159C>A, NW_014040929.1:g.227191C>A, NM_001398.3:c.406G>T, NM_001398.2:c.406G>T, XM_017026448.2:c.166G>T, XM_017026448.1:c.166G>T, NP_001389.2:p.Ala136Ser, XP_016881937.1:p.Ala56Ser

Select item 14747624113.

rs1474762411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38816458 (GRCh38)
19:39307098 (GRCh37)
Canonical SPDI:: NC_000019.10:38816457:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38816458G>A, NC_000019.9:g.39307098G>A, NW_014040929.1:g.226130G>A, NM_001398.3:c.654C>T, NM_001398.2:c.654C>T, XM_017026448.2:c.414C>T, XM_017026448.1:c.414C>T

Select item 14744081284.

rs1474408128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38815932 (GRCh38)
19:39306572 (GRCh37)
Canonical SPDI:: NC_000019.10:38815931:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38815932G>A, NC_000019.9:g.39306572G>A, NW_014040929.1:g.225604G>A, NM_001398.3:c.807C>T, NM_001398.2:c.807C>T, XM_017026448.2:c.567C>T, XM_017026448.1:c.567C>T

Select item 14547252125.

rs1454725212 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGCC [Show Flanks]
Chromosome:: 19:38815873 (GRCh38)
19:39306514 (GRCh37)
Canonical SPDI:: NC_000019.10:38815873:CGGCC:CGGCCCGGCC
Gene:: ECH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000019.10:g.38815874_38815878dup, NC_000019.9:g.39306514_39306518dup, NW_014040929.1:g.225546_225550dup, NM_001398.3:c.861_865dup, NM_001398.2:c.861_865dup, XM_017026448.2:c.621_625dup, XM_017026448.1:c.621_625dup, NP_001389.2:p.Glu289fs, XP_016881937.1:p.Glu209fs

Select item 14522629706.

rs1452262970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:38817106 (GRCh38)
19:39307746 (GRCh37)
Canonical SPDI:: NC_000019.10:38817105:C:G
Gene:: ECH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38817106C>G, NC_000019.9:g.39307746C>G, NW_014040929.1:g.226778C>G, NM_001398.3:c.547G>C, NM_001398.2:c.547G>C, XM_017026448.2:c.307G>C, XM_017026448.1:c.307G>C, NP_001389.2:p.Asp183His, XP_016881937.1:p.Asp103His

Select item 14458208817.

rs1445820881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38831150 (GRCh38)
19:39321790 (GRCh37)
Canonical SPDI:: NC_000019.10:38831149:A:G
Gene:: ECH1 (Varview), LOC124904712 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38831150A>G, NC_000019.9:g.39321790A>G, NW_014040929.1:g.240822A>G, NM_001398.3:c.277T>C, NM_001398.2:c.277T>C, XM_017026448.2:c.37T>C, XM_017026448.1:c.37T>C, NP_001389.2:p.Phe93Leu, XP_016881937.1:p.Phe13Leu

Select item 14385521958.

rs1438552195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38817336 (GRCh38)
19:39307976 (GRCh37)
Canonical SPDI:: NC_000019.10:38817335:T:C
Gene:: ECH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38817336T>C, NC_000019.9:g.39307976T>C, NW_014040929.1:g.227008T>C, NM_001398.3:c.503A>G, NM_001398.2:c.503A>G, XM_017026448.2:c.263A>G, XM_017026448.1:c.263A>G, NP_001389.2:p.His168Arg, XP_016881937.1:p.His88Arg

Select item 14371907269.

rs1437190726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38817074 (GRCh38)
19:39307714 (GRCh37)
Canonical SPDI:: NC_000019.10:38817073:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.38817074G>A, NC_000019.9:g.39307714G>A, NW_014040929.1:g.226746G>A, NM_001398.3:c.579C>T, NM_001398.2:c.579C>T, XM_017026448.2:c.339C>T, XM_017026448.1:c.339C>T

Select item 143703195210.

rs1437031952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:38817101 (GRCh38)
19:39307741 (GRCh37)
Canonical SPDI:: NC_000019.10:38817100:G:C
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38817101G>C, NC_000019.9:g.39307741G>C, NW_014040929.1:g.226773G>C, NM_001398.3:c.552C>G, NM_001398.2:c.552C>G, XM_017026448.2:c.312C>G, XM_017026448.1:c.312C>G, NP_001389.2:p.Ile184Met, XP_016881937.1:p.Ile104Met

Select item 143299744211.

rs1432997442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:38815626 (GRCh38)
19:39306266 (GRCh37)
Canonical SPDI:: NC_000019.10:38815625:A:T
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38815626A>T, NC_000019.9:g.39306266A>T, NW_014040929.1:g.225298A>T, NM_001398.3:c.974T>A, NM_001398.2:c.974T>A, XM_017026448.2:c.734T>A, XM_017026448.1:c.734T>A, NP_001389.2:p.Phe325Tyr, XP_016881937.1:p.Phe245Tyr

Select item 142793141412.

rs1427931414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:38816350 (GRCh38)
19:39306990 (GRCh37)
Canonical SPDI:: NC_000019.10:38816349:A:C
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38816350A>C, NC_000019.9:g.39306990A>C, NW_014040929.1:g.226022A>C, NM_001398.3:c.665T>G, NM_001398.2:c.665T>G, XM_017026448.2:c.425T>G, XM_017026448.1:c.425T>G, NP_001389.2:p.Val222Gly, XP_016881937.1:p.Val142Gly

Select item 142386907113.

rs1423869071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38817121 (GRCh38)
19:39307761 (GRCh37)
Canonical SPDI:: NC_000019.10:38817120:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.38817121G>A, NC_000019.9:g.39307761G>A, NW_014040929.1:g.226793G>A, NM_001398.3:c.532C>T, NM_001398.2:c.532C>T, XM_017026448.2:c.292C>T, XM_017026448.1:c.292C>T, NP_001389.2:p.Leu178Phe, XP_016881937.1:p.Leu98Phe

Select item 142217984814.

rs1422179848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38815882 (GRCh38)
19:39306522 (GRCh37)
Canonical SPDI:: NC_000019.10:38815881:G:A
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38815882G>A, NC_000019.9:g.39306522G>A, NW_014040929.1:g.225554G>A, NM_001398.3:c.857C>T, NM_001398.2:c.857C>T, XM_017026448.2:c.617C>T, XM_017026448.1:c.617C>T, NP_001389.2:p.Ser286Leu, XP_016881937.1:p.Ser206Leu

Select item 141668659515.

rs1416686595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:38815935 (GRCh38)
19:39306575 (GRCh37)
Canonical SPDI:: NC_000019.10:38815934:G:C
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38815935G>C, NC_000019.9:g.39306575G>C, NW_014040929.1:g.225607G>C, NM_001398.3:c.804C>G, NM_001398.2:c.804C>G, XM_017026448.2:c.564C>G, XM_017026448.1:c.564C>G, NP_001389.2:p.Ser268Arg, XP_016881937.1:p.Ser188Arg

Select item 140584999516.

rs1405849995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38817068 (GRCh38)
19:39307708 (GRCh37)
Canonical SPDI:: NC_000019.10:38817067:C:T
Gene:: ECH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38817068C>T, NC_000019.9:g.39307708C>T, NW_014040929.1:g.226740C>T, NM_001398.3:c.585G>A, NM_001398.2:c.585G>A, XM_017026448.2:c.345G>A, XM_017026448.1:c.345G>A

Select item 140316748317.

rs1403167483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:38817345 (GRCh38)
19:39307985 (GRCh37)
Canonical SPDI:: NC_000019.10:38817344:G:A,NC_000019.10:38817344:G:C
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38817345G>A, NC_000019.10:g.38817345G>C, NC_000019.9:g.39307985G>A, NC_000019.9:g.39307985G>C, NW_014040929.1:g.227017G>A, NW_014040929.1:g.227017G>C, NM_001398.3:c.494C>T, NM_001398.3:c.494C>G, NM_001398.2:c.494C>T, NM_001398.2:c.494C>G, XM_017026448.2:c.254C>T, XM_017026448.2:c.254C>G, XM_017026448.1:c.254C>T, XM_017026448.1:c.254C>G, NP_001389.2:p.Ala165Val, NP_001389.2:p.Ala165Gly, XP_016881937.1:p.Ala85Val, XP_016881937.1:p.Ala85Gly

Select item 139898515818.

rs1398985158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38816465 (GRCh38)
19:39307105 (GRCh37)
Canonical SPDI:: NC_000019.10:38816464:A:G
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38816465A>G, NC_000019.9:g.39307105A>G, NW_014040929.1:g.226137A>G, NM_001398.3:c.647T>C, NM_001398.2:c.647T>C, XM_017026448.2:c.407T>C, XM_017026448.1:c.407T>C, NP_001389.2:p.Ile216Thr, XP_016881937.1:p.Ile136Thr

Select item 139683822419.

rs1396838224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:38816007 (GRCh38)
19:39306647 (GRCh37)
Canonical SPDI:: NC_000019.10:38816006:G:T
Gene:: ECH1 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38816007G>T, NC_000019.9:g.39306647G>T, NW_014040929.1:g.225679G>T, NM_001398.3:c.732C>A, NM_001398.2:c.732C>A, XM_017026448.2:c.492C>A, XM_017026448.1:c.492C>A, NP_001389.2:p.Ser244Arg, XP_016881937.1:p.Ser164Arg

Select item 139331700120.

rs1393317001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38815891 (GRCh38)
19:39306531 (GRCh37)
Canonical SPDI:: NC_000019.10:38815890:C:T
Gene:: ECH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38815891C>T, NC_000019.9:g.39306531C>T, NW_014040929.1:g.225563C>T, NM_001398.3:c.848G>A, NM_001398.2:c.848G>A, XM_017026448.2:c.608G>A, XM_017026448.1:c.608G>A, NP_001389.2:p.Arg283His, XP_016881937.1:p.Arg203His

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