SNP Links for Protein (Select 193082993) - SNP

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Links from Protein

Items: 1 to 20 of 597

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Select item 14902961821.

rs1490296182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17338629 (GRCh38)
19:17449438 (GRCh37)
Canonical SPDI:: NC_000019.10:17338628:G:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17338629G>A, NC_000019.9:g.17449438G>A, NG_027824.1:g.8648G>A, NM_133644.4:c.479G>A, NM_133644.3:c.479G>A, NM_032620.4:c.479G>A, NM_032620.3:c.479G>A, NM_001128855.3:c.479G>A, NM_001128855.2:c.479G>A, NM_001195422.1:c.545G>A, NP_598399.2:p.Gly160Glu, NP_116009.2:p.Gly160Glu, NP_001122327.1:p.Gly160Glu, NP_001182351.1:p.Gly182Glu

Select item 14898036942.

rs1489803694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17338367 (GRCh38)
19:17449176 (GRCh37)
Canonical SPDI:: NC_000019.10:17338366:C:T
Gene:: GTPBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17338367C>T, NC_000019.9:g.17449176C>T, NG_027824.1:g.8386C>T, NM_133644.4:c.304C>T, NM_133644.3:c.304C>T, NM_032620.4:c.304C>T, NM_032620.3:c.304C>T, NM_001128855.3:c.304C>T, NM_001128855.2:c.304C>T, NM_001195422.1:c.370C>T, NP_598399.2:p.Pro102Ser, NP_116009.2:p.Pro102Ser, NP_001122327.1:p.Pro102Ser, NP_001182351.1:p.Pro124Ser

Select item 14856935303.

rs1485693530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:17339124 (GRCh38)
19:17449933 (GRCh37)
Canonical SPDI:: NC_000019.10:17339123:C:A,NC_000019.10:17339123:C:T
Gene:: GTPBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17339124C>A, NC_000019.10:g.17339124C>T, NC_000019.9:g.17449933C>A, NC_000019.9:g.17449933C>T, NG_027824.1:g.9143C>A, NG_027824.1:g.9143C>T, NM_133644.4:c.762C>A, NM_133644.4:c.762C>T, NM_133644.3:c.762C>A, NM_133644.3:c.762C>T, NM_032620.4:c.666C>A, NM_032620.4:c.666C>T, NM_032620.3:c.666C>A, NM_032620.3:c.666C>T, NM_001128855.3:c.666C>A, NM_001128855.3:c.666C>T, NM_001128855.2:c.666C>A, NM_001128855.2:c.666C>T, NM_001195422.1:c.732C>A, NM_001195422.1:c.732C>T

Select item 14856641144.

rs1485664114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:17338435 (GRCh38)
19:17449244 (GRCh37)
Canonical SPDI:: NC_000019.10:17338434:C:G,NC_000019.10:17338434:C:T
Gene:: GTPBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17338435C>G, NC_000019.10:g.17338435C>T, NC_000019.9:g.17449244C>G, NC_000019.9:g.17449244C>T, NG_027824.1:g.8454C>G, NG_027824.1:g.8454C>T, NM_133644.4:c.372C>G, NM_133644.4:c.372C>T, NM_133644.3:c.372C>G, NM_133644.3:c.372C>T, NM_032620.4:c.372C>G, NM_032620.4:c.372C>T, NM_032620.3:c.372C>G, NM_032620.3:c.372C>T, NM_001128855.3:c.372C>G, NM_001128855.3:c.372C>T, NM_001128855.2:c.372C>G, NM_001128855.2:c.372C>T, NM_001195422.1:c.438C>G, NM_001195422.1:c.438C>T

Select item 14845572165.

rs1484557216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17339187 (GRCh38)
19:17449996 (GRCh37)
Canonical SPDI:: NC_000019.10:17339186:G:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.17339187G>A, NC_000019.9:g.17449996G>A, NG_027824.1:g.9206G>A, NM_133644.4:c.825G>A, NM_133644.3:c.825G>A, NM_032620.4:c.729G>A, NM_032620.3:c.729G>A, NM_001128855.3:c.729G>A, NM_001128855.2:c.729G>A, NM_001195422.1:c.795G>A

Select item 14839203716.

rs1483920371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:17341140 (GRCh38)
19:17451949 (GRCh37)
Canonical SPDI:: NC_000019.10:17341139:G:A,NC_000019.10:17341139:G:C
Gene:: GTPBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.17341140G>A, NC_000019.10:g.17341140G>C, NC_000019.9:g.17451949G>A, NC_000019.9:g.17451949G>C, NG_027824.1:g.11159G>A, NG_027824.1:g.11159G>C, NM_133644.4:c.1167G>A, NM_133644.4:c.1167G>C, NM_133644.3:c.1167G>A, NM_133644.3:c.1167G>C, NM_032620.4:c.1071G>A, NM_032620.4:c.1071G>C, NM_032620.3:c.1071G>A, NM_032620.3:c.1071G>C, NM_001128855.3:c.1008G>A, NM_001128855.3:c.1008G>C, NM_001128855.2:c.1008G>A, NM_001128855.2:c.1008G>C, NM_001195422.1:c.1137G>A, NM_001195422.1:c.1137G>C

Select item 14786106407.

rs1478610640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17341535 (GRCh38)
19:17452344 (GRCh37)
Canonical SPDI:: NC_000019.10:17341534:C:T
Gene:: GTPBP3 (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17341535C>T, NC_000019.9:g.17452344C>T, NG_027824.1:g.11554C>T, NM_133644.4:c.1407C>T, NM_133644.3:c.1407C>T, NM_032620.4:c.1311C>T, NM_032620.3:c.1311C>T, NM_001128855.3:c.1248C>T, NM_001128855.2:c.1248C>T, NM_001195422.1:c.1377C>T

Select item 14742498238.

rs1474249823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:17338135 (GRCh38)
19:17448944 (GRCh37)
Canonical SPDI:: NC_000019.10:17338134:G:A,NC_000019.10:17338134:G:T
Gene:: GTPBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17338135G>A, NC_000019.10:g.17338135G>T, NC_000019.9:g.17448944G>A, NC_000019.9:g.17448944G>T, NG_027824.1:g.8154G>A, NG_027824.1:g.8154G>T, NM_133644.4:c.181G>A, NM_133644.4:c.181G>T, NM_133644.3:c.181G>A, NM_133644.3:c.181G>T, NM_032620.4:c.181G>A, NM_032620.4:c.181G>T, NM_032620.3:c.181G>A, NM_032620.3:c.181G>T, NM_001128855.3:c.181G>A, NM_001128855.3:c.181G>T, NM_001128855.2:c.181G>A, NM_001128855.2:c.181G>T, NM_001195422.1:c.247G>A, NM_001195422.1:c.247G>T, NP_598399.2:p.Ala61Thr, NP_598399.2:p.Ala61Ser, NP_116009.2:p.Ala61Thr, NP_116009.2:p.Ala61Ser, NP_001122327.1:p.Ala61Thr, NP_001122327.1:p.Ala61Ser, NP_001182351.1:p.Ala83Thr, NP_001182351.1:p.Ala83Ser

Select item 14737301949.

rs1473730194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17339519 (GRCh38)
19:17450328 (GRCh37)
Canonical SPDI:: NC_000019.10:17339518:T:C
Gene:: GTPBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17339519T>C, NC_000019.9:g.17450328T>C, NG_027824.1:g.9538T>C, NM_133644.4:c.990T>C, NM_133644.3:c.990T>C, NM_032620.4:c.894T>C, NM_032620.3:c.894T>C, NM_001128855.3:c.894T>C, NM_001128855.2:c.894T>C, NM_001195422.1:c.960T>C

Select item 147364589310.

rs1473645893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:17338991 (GRCh38)
19:17449800 (GRCh37)
Canonical SPDI:: NC_000019.10:17338990:A:C
Gene:: GTPBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.17338991A>C, NC_000019.9:g.17449800A>C, NG_027824.1:g.9010A>C, NM_133644.4:c.629A>C, NM_133644.3:c.629A>C, NM_032620.4:c.629A>C, NM_032620.3:c.629A>C, NM_001128855.3:c.629A>C, NM_001128855.2:c.629A>C, NM_001195422.1:c.695A>C, NP_598399.2:p.Glu210Ala, NP_116009.2:p.Glu210Ala, NP_001122327.1:p.Glu210Ala, NP_001182351.1:p.Glu232Ala

Select item 147274820611.

rs1472748206 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 19:17339241 (GRCh38)
19:17450051 (GRCh37)
Canonical SPDI:: NC_000019.10:17339241:AA:AAAA
Gene:: GTPBP3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: AA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17339242_17339243dup, NC_000019.9:g.17450051_17450052dup, NG_027824.1:g.9261_9262dup, NM_133644.4:c.880_881dup, NM_133644.3:c.880_881dup, NM_032620.4:c.784_785dup, NM_032620.3:c.784_785dup, NM_001128855.3:c.784_785dup, NM_001128855.2:c.784_785dup, NM_001195422.1:c.850_851dup, NP_598399.2:p.Ser295fs, NP_116009.2:p.Ser263fs, NP_001122327.1:p.Ser263fs, NP_001182351.1:p.Ser285fs

Select item 147078112812.

rs1470781128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:17338044 (GRCh38)
19:17448853 (GRCh37)
Canonical SPDI:: NC_000019.10:17338043:C:G,NC_000019.10:17338043:C:T
Gene:: GTPBP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
G=0.000685/2 (KOREAN)
HGVS:: NC_000019.10:g.17338044C>G, NC_000019.10:g.17338044C>T, NC_000019.9:g.17448853C>G, NC_000019.9:g.17448853C>T, NG_027824.1:g.8063C>G, NG_027824.1:g.8063C>T, NM_133644.4:c.90C>G, NM_133644.4:c.90C>T, NM_133644.3:c.90C>G, NM_133644.3:c.90C>T, NM_032620.4:c.90C>G, NM_032620.4:c.90C>T, NM_032620.3:c.90C>G, NM_032620.3:c.90C>T, NM_001128855.3:c.90C>G, NM_001128855.3:c.90C>T, NM_001128855.2:c.90C>G, NM_001128855.2:c.90C>T, NM_001195422.1:c.156C>G, NM_001195422.1:c.156C>T

Select item 146905290813.

rs1469052908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:17338566 (GRCh38)
19:17449375 (GRCh37)
Canonical SPDI:: NC_000019.10:17338565:A:T
Gene:: GTPBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17338566A>T, NC_000019.9:g.17449375A>T, NG_027824.1:g.8585A>T, NM_133644.4:c.416A>T, NM_133644.3:c.416A>T, NM_032620.4:c.416A>T, NM_032620.3:c.416A>T, NM_001128855.3:c.416A>T, NM_001128855.2:c.416A>T, NM_001195422.1:c.482A>T, NP_598399.2:p.Glu139Val, NP_116009.2:p.Glu139Val, NP_001122327.1:p.Glu139Val, NP_001182351.1:p.Glu161Val

Select item 146737072014.

rs1467370720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:17341113 (GRCh38)
19:17451922 (GRCh37)
Canonical SPDI:: NC_000019.10:17341112:C:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17341113C>A, NC_000019.9:g.17451922C>A, NG_027824.1:g.11132C>A, NM_133644.4:c.1140C>A, NM_133644.3:c.1140C>A, NM_032620.4:c.1044C>A, NM_032620.3:c.1044C>A, NM_001128855.3:c.981C>A, NM_001128855.2:c.981C>A, NM_001195422.1:c.1110C>A, NP_598399.2:p.Asn380Lys, NP_116009.2:p.Asn348Lys, NP_001122327.1:p.Asn327Lys, NP_001182351.1:p.Asn370Lys

Select item 146353753915.

rs1463537539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17341297 (GRCh38)
19:17452106 (GRCh37)
Canonical SPDI:: NC_000019.10:17341296:G:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000019.10:g.17341297G>A, NC_000019.9:g.17452106G>A, NG_027824.1:g.11316G>A, NM_133644.4:c.1324G>A, NM_133644.3:c.1324G>A, NM_032620.4:c.1228G>A, NM_032620.3:c.1228G>A, NM_001128855.3:c.1165G>A, NM_001128855.2:c.1165G>A, NM_001195422.1:c.1294G>A, NP_598399.2:p.Ala442Thr, NP_116009.2:p.Ala410Thr, NP_001122327.1:p.Ala389Thr, NP_001182351.1:p.Ala432Thr

Select item 146288638516.

rs1462886385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17338387 (GRCh38)
19:17449196 (GRCh37)
Canonical SPDI:: NC_000019.10:17338386:G:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17338387G>A, NC_000019.9:g.17449196G>A, NG_027824.1:g.8406G>A, NM_133644.4:c.324G>A, NM_133644.3:c.324G>A, NM_032620.4:c.324G>A, NM_032620.3:c.324G>A, NM_001128855.3:c.324G>A, NM_001128855.2:c.324G>A, NM_001195422.1:c.390G>A

Select item 146285484017.

rs1462854840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:17338029 (GRCh38)
19:17448838 (GRCh37)
Canonical SPDI:: NC_000019.10:17338028:C:G
Gene:: GTPBP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17338029C>G, NC_000019.9:g.17448838C>G, NG_027824.1:g.8048C>G, NM_133644.4:c.75C>G, NM_133644.3:c.75C>G, NM_032620.4:c.75C>G, NM_032620.3:c.75C>G, NM_001128855.3:c.75C>G, NM_001128855.2:c.75C>G, NM_001195422.1:c.141C>G, NP_598399.2:p.Ser25Arg, NP_116009.2:p.Ser25Arg, NP_001122327.1:p.Ser25Arg, NP_001182351.1:p.Ser47Arg

Select item 146186785218.

rs1461867852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17339026 (GRCh38)
19:17449835 (GRCh37)
Canonical SPDI:: NC_000019.10:17339025:G:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17339026G>A, NC_000019.9:g.17449835G>A, NG_027824.1:g.9045G>A, NM_133644.4:c.664G>A, NM_133644.3:c.664G>A, NM_032620.4:c.664G>A, NM_032620.3:c.664G>A, NM_001128855.3:c.664G>A, NM_001128855.2:c.664G>A, NM_001195422.1:c.730G>A, NP_598399.2:p.Gly222Ser, NP_116009.2:p.Ala222Thr, NP_001122327.1:p.Ala222Thr, NP_001182351.1:p.Ala244Thr

Select item 145939681919.

rs1459396819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17341658 (GRCh38)
19:17452467 (GRCh37)
Canonical SPDI:: NC_000019.10:17341657:G:A
Gene:: GTPBP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.17341658G>A, NC_000019.9:g.17452467G>A, NG_027824.1:g.11677G>A, NM_133644.4:c.1530G>A, NM_133644.3:c.1530G>A, NM_032620.4:c.1434G>A, NM_032620.3:c.1434G>A, NM_001128855.3:c.1371G>A, NM_001128855.2:c.1371G>A, NM_001195422.1:c.1500G>A

Select item 145831983120.

rs1458319831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17341649 (GRCh38)
19:17452458 (GRCh37)
Canonical SPDI:: NC_000019.10:17341648:G:A
Gene:: GTPBP3 (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_000019.10:g.17341649G>A, NC_000019.9:g.17452458G>A, NG_027824.1:g.11668G>A, NM_133644.4:c.1521G>A, NM_133644.3:c.1521G>A, NM_032620.4:c.1425G>A, NM_032620.3:c.1425G>A, NM_001128855.3:c.1362G>A, NM_001128855.2:c.1362G>A, NM_001195422.1:c.1491G>A

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SNP Links for Protein (Select 193082993) (597)
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