SNP Links for Protein (Select 83281200) - SNP

Links from Protein

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Select item 14904716861.

rs1490471686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:55680107 (GRCh38)
15:55972305 (GRCh37)
Canonical SPDI:: NC_000015.10:55680106:G:C
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55680107G>C, NC_000015.9:g.55972305G>C, NM_173814.6:c.920C>G, NM_173814.5:c.920C>G, NM_173814.4:c.920C>G, XM_017022081.3:c.686C>G, XM_017022081.2:c.686C>G, XM_017022081.1:c.686C>G, XM_017022082.3:c.920C>G, XM_017022082.2:c.920C>G, XM_017022082.1:c.920C>G, XM_011521459.3:c.920C>G, XM_011521459.2:c.920C>G, XM_011521459.1:c.920C>G, XM_011521460.3:c.920C>G, XM_011521460.2:c.920C>G, XM_011521460.1:c.920C>G, NP_776175.2:p.Thr307Ser, XP_016877570.1:p.Thr229Ser, XP_016877571.1:p.Thr307Ser, XP_011519761.1:p.Thr307Ser, XP_011519762.1:p.Thr307Ser

Select item 14904527652.

rs1490452765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55641189 (GRCh38)
15:55933387 (GRCh37)
Canonical SPDI:: NC_000015.10:55641188:A:G
Gene:: PRTG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.55641189A>G, NC_000015.9:g.55933387A>G, NM_173814.6:c.2061T>C, NM_173814.5:c.2061T>C, NM_173814.4:c.2061T>C, XM_017022081.3:c.1827T>C, XM_017022081.2:c.1827T>C, XM_017022081.1:c.1827T>C, XM_017022082.3:c.2061T>C, XM_017022082.2:c.2061T>C, XM_017022082.1:c.2061T>C

Select item 14887748273.

rs1488774827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55683838 (GRCh38)
15:55976036 (GRCh37)
Canonical SPDI:: NC_000015.10:55683837:G:A
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55683838G>A, NC_000015.9:g.55976036G>A, NM_173814.6:c.491C>T, NM_173814.5:c.491C>T, NM_173814.4:c.491C>T, XM_017022081.3:c.257C>T, XM_017022081.2:c.257C>T, XM_017022081.1:c.257C>T, XM_017022082.3:c.491C>T, XM_017022082.2:c.491C>T, XM_017022082.1:c.491C>T, XM_011521459.3:c.491C>T, XM_011521459.2:c.491C>T, XM_011521459.1:c.491C>T, XM_011521460.3:c.491C>T, XM_011521460.2:c.491C>T, XM_011521460.1:c.491C>T, NP_776175.2:p.Ala164Val, XP_016877570.1:p.Ala86Val, XP_016877571.1:p.Ala164Val, XP_011519761.1:p.Ala164Val, XP_011519762.1:p.Ala164Val

Select item 14861603474.

rs1486160347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55683920 (GRCh38)
15:55976118 (GRCh37)
Canonical SPDI:: NC_000015.10:55683919:A:G
Gene:: PRTG (Varview)
Functional Consequence:: 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)
HGVS:: NC_000015.10:g.55683920A>G, NC_000015.9:g.55976118A>G, NM_173814.6:c.409T>C, NM_173814.5:c.409T>C, NM_173814.4:c.409T>C, XM_017022081.3:c.175T>C, XM_017022081.2:c.175T>C, XM_017022081.1:c.175T>C, XM_017022082.3:c.409T>C, XM_017022082.2:c.409T>C, XM_017022082.1:c.409T>C, XM_011521459.3:c.409T>C, XM_011521459.2:c.409T>C, XM_011521459.1:c.409T>C, XM_011521460.3:c.409T>C, XM_011521460.2:c.409T>C, XM_011521460.1:c.409T>C, NP_776175.2:p.Phe137Leu, XP_016877570.1:p.Phe59Leu, XP_016877571.1:p.Phe137Leu, XP_011519761.1:p.Phe137Leu, XP_011519762.1:p.Phe137Leu

Select item 14842184215.

rs1484218421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55639723 (GRCh38)
15:55931921 (GRCh37)
Canonical SPDI:: NC_000015.10:55639722:G:A
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.55639723G>A, NC_000015.9:g.55931921G>A, NM_173814.6:c.2243C>T, NM_173814.5:c.2243C>T, NM_173814.4:c.2243C>T, XM_017022081.3:c.2009C>T, XM_017022081.2:c.2009C>T, XM_017022081.1:c.2009C>T, XM_017022082.3:c.2243C>T, XM_017022082.2:c.2243C>T, XM_017022082.1:c.2243C>T, NP_776175.2:p.Thr748Ile, XP_016877570.1:p.Thr670Ile, XP_016877571.1:p.Thr748Ile

Select item 14841725106.

rs1484172510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55672589 (GRCh38)
15:55964787 (GRCh37)
Canonical SPDI:: NC_000015.10:55672588:T:C
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55672589T>C, NC_000015.9:g.55964787T>C, NM_173814.6:c.1897A>G, NM_173814.5:c.1897A>G, NM_173814.4:c.1897A>G, XM_017022081.3:c.1663A>G, XM_017022081.2:c.1663A>G, XM_017022081.1:c.1663A>G, XM_017022082.3:c.1897A>G, XM_017022082.2:c.1897A>G, XM_017022082.1:c.1897A>G, XM_011521459.3:c.1897A>G, XM_011521459.2:c.1897A>G, XM_011521459.1:c.1897A>G, XM_011521460.3:c.1897A>G, XM_011521460.2:c.1897A>G, XM_011521460.1:c.1897A>G, NP_776175.2:p.Thr633Ala, XP_016877570.1:p.Thr555Ala, XP_016877571.1:p.Thr633Ala, XP_011519761.1:p.Thr633Ala, XP_011519762.1:p.Thr633Ala

Select item 14833793187.

rs1483379318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55627118 (GRCh38)
15:55919316 (GRCh37)
Canonical SPDI:: NC_000015.10:55627117:T:C
Gene:: PRTG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55627118T>C, NC_000015.9:g.55919316T>C, NM_173814.6:c.2817A>G, NM_173814.5:c.2817A>G, NM_173814.4:c.2817A>G, XM_017022081.3:c.2583A>G, XM_017022081.2:c.2583A>G, XM_017022081.1:c.2583A>G

Select item 14827594998.

rs1482759499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:55628853 (GRCh38)
15:55921051 (GRCh37)
Canonical SPDI:: NC_000015.10:55628852:C:A
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55628853C>A, NC_000015.9:g.55921051C>A, NM_173814.6:c.2775G>T, NM_173814.5:c.2775G>T, NM_173814.4:c.2775G>T, XM_017022081.3:c.2541G>T, XM_017022081.2:c.2541G>T, XM_017022081.1:c.2541G>T, NP_776175.2:p.Arg925Ser, XP_016877570.1:p.Arg847Ser

Select item 14822927789.

rs1482292778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55740455 (GRCh38)
15:56032653 (GRCh37)
Canonical SPDI:: NC_000015.10:55740454:T:C
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55740455T>C, NC_000015.9:g.56032653T>C, NM_173814.6:c.324A>G, NM_173814.5:c.324A>G, NM_173814.4:c.324A>G, XM_017022081.3:c.90A>G, XM_017022081.2:c.90A>G, XM_017022081.1:c.90A>G, XM_017022082.3:c.324A>G, XM_017022082.2:c.324A>G, XM_017022082.1:c.324A>G, XM_011521459.3:c.324A>G, XM_011521459.2:c.324A>G, XM_011521459.1:c.324A>G, XM_011521460.3:c.324A>G, XM_011521460.2:c.324A>G, XM_011521460.1:c.324A>G

Select item 148189803810.

rs1481898038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55628824 (GRCh38)
15:55921022 (GRCh37)
Canonical SPDI:: NC_000015.10:55628823:T:C
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000142/2 (TOMMO)
HGVS:: NC_000015.10:g.55628824T>C, NC_000015.9:g.55921022T>C, NM_173814.6:c.2804A>G, NM_173814.5:c.2804A>G, NM_173814.4:c.2804A>G, XM_017022081.3:c.2570A>G, XM_017022081.2:c.2570A>G, XM_017022081.1:c.2570A>G, NP_776175.2:p.Lys935Arg, XP_016877570.1:p.Lys857Arg

Select item 148067742411.

rs1480677424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55675578 (GRCh38)
15:55967776 (GRCh37)
Canonical SPDI:: NC_000015.10:55675577:T:C
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55675578T>C, NC_000015.9:g.55967776T>C, NM_173814.6:c.1487A>G, NM_173814.5:c.1487A>G, NM_173814.4:c.1487A>G, XM_017022081.3:c.1253A>G, XM_017022081.2:c.1253A>G, XM_017022081.1:c.1253A>G, XM_017022082.3:c.1487A>G, XM_017022082.2:c.1487A>G, XM_017022082.1:c.1487A>G, XM_011521459.3:c.1487A>G, XM_011521459.2:c.1487A>G, XM_011521459.1:c.1487A>G, XM_011521460.3:c.1487A>G, XM_011521460.2:c.1487A>G, XM_011521460.1:c.1487A>G, NP_776175.2:p.Tyr496Cys, XP_016877570.1:p.Tyr418Cys, XP_016877571.1:p.Tyr496Cys, XP_011519761.1:p.Tyr496Cys, XP_011519762.1:p.Tyr496Cys

Select item 148015735512.

rs1480157355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55620218 (GRCh38)
15:55912416 (GRCh37)
Canonical SPDI:: NC_000015.10:55620217:T:C
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55620218T>C, NC_000015.9:g.55912416T>C, NM_173814.6:c.3247A>G, NM_173814.5:c.3247A>G, NM_173814.4:c.3247A>G, XM_017022081.3:c.3013A>G, XM_017022081.2:c.3013A>G, XM_017022081.1:c.3013A>G, NP_776175.2:p.Thr1083Ala, XP_016877570.1:p.Thr1005Ala

Select item 147967746513.

rs1479677465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55641176 (GRCh38)
15:55933374 (GRCh37)
Canonical SPDI:: NC_000015.10:55641175:C:T
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000015.10:g.55641176C>T, NC_000015.9:g.55933374C>T, NM_173814.6:c.2074G>A, NM_173814.5:c.2074G>A, NM_173814.4:c.2074G>A, XM_017022081.3:c.1840G>A, XM_017022081.2:c.1840G>A, XM_017022081.1:c.1840G>A, XM_017022082.3:c.2074G>A, XM_017022082.2:c.2074G>A, XM_017022082.1:c.2074G>A, NP_776175.2:p.Ala692Thr, XP_016877570.1:p.Ala614Thr, XP_016877571.1:p.Ala692Thr

Select item 147961953414.

rs1479619534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:55677911 (GRCh38)
15:55970109 (GRCh37)
Canonical SPDI:: NC_000015.10:55677910:A:T
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55677911A>T, NC_000015.9:g.55970109A>T, NM_173814.6:c.1267T>A, NM_173814.5:c.1267T>A, NM_173814.4:c.1267T>A, XM_017022081.3:c.1033T>A, XM_017022081.2:c.1033T>A, XM_017022081.1:c.1033T>A, XM_017022082.3:c.1267T>A, XM_017022082.2:c.1267T>A, XM_017022082.1:c.1267T>A, XM_011521459.3:c.1267T>A, XM_011521459.2:c.1267T>A, XM_011521459.1:c.1267T>A, XM_011521460.3:c.1267T>A, XM_011521460.2:c.1267T>A, XM_011521460.1:c.1267T>A, NP_776175.2:p.Tyr423Asn, XP_016877570.1:p.Tyr345Asn, XP_016877571.1:p.Tyr423Asn, XP_011519761.1:p.Tyr423Asn, XP_011519762.1:p.Tyr423Asn

Select item 147940396815.

rs1479403968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55675582 (GRCh38)
15:55967780 (GRCh37)
Canonical SPDI:: NC_000015.10:55675581:C:T
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.55675582C>T, NC_000015.9:g.55967780C>T, NM_173814.6:c.1483G>A, NM_173814.5:c.1483G>A, NM_173814.4:c.1483G>A, XM_017022081.3:c.1249G>A, XM_017022081.2:c.1249G>A, XM_017022081.1:c.1249G>A, XM_017022082.3:c.1483G>A, XM_017022082.2:c.1483G>A, XM_017022082.1:c.1483G>A, XM_011521459.3:c.1483G>A, XM_011521459.2:c.1483G>A, XM_011521459.1:c.1483G>A, XM_011521460.3:c.1483G>A, XM_011521460.2:c.1483G>A, XM_011521460.1:c.1483G>A, NP_776175.2:p.Ala495Thr, XP_016877570.1:p.Ala417Thr, XP_016877571.1:p.Ala495Thr, XP_011519761.1:p.Ala495Thr, XP_011519762.1:p.Ala495Thr

Select item 147915147216.

rs1479151472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55679418 (GRCh38)
15:55971616 (GRCh37)
Canonical SPDI:: NC_000015.10:55679417:T:C
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.55679418T>C, NC_000015.9:g.55971616T>C, NM_173814.6:c.1001A>G, NM_173814.5:c.1001A>G, NM_173814.4:c.1001A>G, XM_017022081.3:c.767A>G, XM_017022081.2:c.767A>G, XM_017022081.1:c.767A>G, XM_017022082.3:c.1001A>G, XM_017022082.2:c.1001A>G, XM_017022082.1:c.1001A>G, XM_011521459.3:c.1001A>G, XM_011521459.2:c.1001A>G, XM_011521459.1:c.1001A>G, XM_011521460.3:c.1001A>G, XM_011521460.2:c.1001A>G, XM_011521460.1:c.1001A>G, NP_776175.2:p.Glu334Gly, XP_016877570.1:p.Glu256Gly, XP_016877571.1:p.Glu334Gly, XP_011519761.1:p.Glu334Gly, XP_011519762.1:p.Glu334Gly

Select item 147912374617.

rs1479123746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:55620042 (GRCh38)
15:55912240 (GRCh37)
Canonical SPDI:: NC_000015.10:55620041:T:A
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55620042T>A, NC_000015.9:g.55912240T>A, NM_173814.6:c.3423A>T, NM_173814.5:c.3423A>T, NM_173814.4:c.3423A>T, XM_017022081.3:c.3189A>T, XM_017022081.2:c.3189A>T, XM_017022081.1:c.3189A>T

Select item 147885082518.

rs1478850825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55624404 (GRCh38)
15:55916602 (GRCh37)
Canonical SPDI:: NC_000015.10:55624403:C:T
Gene:: PRTG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55624404C>T, NC_000015.9:g.55916602C>T, NM_173814.6:c.3031G>A, NM_173814.5:c.3031G>A, NM_173814.4:c.3031G>A, XM_017022081.3:c.2797G>A, XM_017022081.2:c.2797G>A, XM_017022081.1:c.2797G>A, NP_776175.2:p.Ala1011Thr, XP_016877570.1:p.Ala933Thr

Select item 147882453819.

rs1478824538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55673451 (GRCh38)
15:55965649 (GRCh37)
Canonical SPDI:: NC_000015.10:55673450:A:G
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55673451A>G, NC_000015.9:g.55965649A>G, NM_173814.6:c.1772T>C, NM_173814.5:c.1772T>C, NM_173814.4:c.1772T>C, XM_017022081.3:c.1538T>C, XM_017022081.2:c.1538T>C, XM_017022081.1:c.1538T>C, XM_017022082.3:c.1772T>C, XM_017022082.2:c.1772T>C, XM_017022082.1:c.1772T>C, XM_011521459.3:c.1772T>C, XM_011521459.2:c.1772T>C, XM_011521459.1:c.1772T>C, XM_011521460.3:c.1772T>C, XM_011521460.2:c.1772T>C, XM_011521460.1:c.1772T>C, NP_776175.2:p.Ile591Thr, XP_016877570.1:p.Ile513Thr, XP_016877571.1:p.Ile591Thr, XP_011519761.1:p.Ile591Thr, XP_011519762.1:p.Ile591Thr

Select item 147782217720.

rs1477822177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55673591 (GRCh38)
15:55965789 (GRCh37)
Canonical SPDI:: NC_000015.10:55673590:A:G
Gene:: PRTG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.55673591A>G, NC_000015.9:g.55965789A>G, NM_173814.6:c.1632T>C, NM_173814.5:c.1632T>C, NM_173814.4:c.1632T>C, XM_017022081.3:c.1398T>C, XM_017022081.2:c.1398T>C, XM_017022081.1:c.1398T>C, XM_017022082.3:c.1632T>C, XM_017022082.2:c.1632T>C, XM_017022082.1:c.1632T>C, XM_011521459.3:c.1632T>C, XM_011521459.2:c.1632T>C, XM_011521459.1:c.1632T>C, XM_011521460.3:c.1632T>C, XM_011521460.2:c.1632T>C, XM_011521460.1:c.1632T>C

dbSNP

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