SNP Links for Protein (Select 23238222) - SNP

Links from Protein

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Select item 14887891701.

rs1488789170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17281149 (GRCh38)
17:17184463 (GRCh37)
Canonical SPDI:: NC_000017.11:17281148:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17281149C>T, NC_000017.10:g.17184463C>T, NM_003653.4:c.38G>A, NM_003653.3:c.38G>A, NM_001316354.2:c.-440G>A, NM_001316354.1:c.-440G>A, NM_001316357.2:c.-228G>A, NM_001316357.1:c.-228G>A, NM_001316356.2:c.-34G>A, NM_001316356.1:c.-34G>A, NM_001316355.2:c.38G>A, NM_001316355.1:c.38G>A, NM_001316358.2:c.-98G>A, NM_001316358.1:c.-98G>A, XM_047436961.1:c.-34G>A, NP_003644.2:p.Arg13Gln, NP_001303284.1:p.Arg13Gln

Select item 14881399872.

rs1488139987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17276070 (GRCh38)
17:17179384 (GRCh37)
Canonical SPDI:: NC_000017.11:17276069:A:G
Gene:: COPS3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17276070A>G, NC_000017.10:g.17179384A>G, NM_003653.4:c.150T>C, NM_003653.3:c.150T>C, NM_001316354.2:c.-309T>C, NM_001316354.1:c.-309T>C, NM_001316357.2:c.-116T>C, NM_001316357.1:c.-116T>C, NM_001316355.2:c.150T>C, NM_001316355.1:c.150T>C, NM_001199125.1:c.90T>C

Select item 14867636703.

rs1486763670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17276112 (GRCh38)
17:17179426 (GRCh37)
Canonical SPDI:: NC_000017.11:17276111:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17276112C>T, NC_000017.10:g.17179426C>T, NM_003653.4:c.108G>A, NM_003653.3:c.108G>A, NM_001316354.2:c.-351G>A, NM_001316354.1:c.-351G>A, NM_001316357.2:c.-158G>A, NM_001316357.1:c.-158G>A, NM_001316355.2:c.108G>A, NM_001316355.1:c.108G>A, NM_001199125.1:c.48G>A

Select item 14629318684.

rs1462931868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17264928 (GRCh38)
17:17168242 (GRCh37)
Canonical SPDI:: NC_000017.11:17264927:A:G
Gene:: COPS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17264928A>G, NC_000017.10:g.17168242A>G, NM_003653.4:c.495T>C, NM_003653.3:c.495T>C, NM_001316354.2:c.105T>C, NM_001316354.1:c.105T>C, NM_001316357.2:c.180T>C, NM_001316357.1:c.180T>C, NM_001316356.2:c.294T>C, NM_001316356.1:c.294T>C, NM_001316355.2:c.495T>C, NM_001316355.1:c.495T>C, NM_001316358.2:c.180T>C, NM_001316358.1:c.180T>C, NM_001199125.1:c.435T>C, XM_047436961.1:c.294T>C

Select item 14619549175.

rs1461954917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17248956 (GRCh38)
17:17152270 (GRCh37)
Canonical SPDI:: NC_000017.11:17248955:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17248956G>A, NC_000017.10:g.17152270G>A, NM_003653.4:c.1107C>T, NM_003653.3:c.1107C>T, NM_001316354.2:c.717C>T, NM_001316354.1:c.717C>T, NM_001316357.2:c.792C>T, NM_001316357.1:c.792C>T, NM_001316356.2:c.906C>T, NM_001316356.1:c.906C>T, NM_001316355.2:c.933C>T, NM_001316355.1:c.933C>T, NM_001316358.2:c.792C>T, NM_001316358.1:c.792C>T, NM_001199125.1:c.1047C>T, XM_047436961.1:c.732C>T

Select item 14553571946.

rs1455357194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17254922 (GRCh38)
17:17158236 (GRCh37)
Canonical SPDI:: NC_000017.11:17254921:T:C
Gene:: COPS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17254922T>C, NC_000017.10:g.17158236T>C, NM_003653.4:c.960A>G, NM_003653.3:c.960A>G, NM_001316354.2:c.570A>G, NM_001316354.1:c.570A>G, NM_001316357.2:c.645A>G, NM_001316357.1:c.645A>G, NM_001316356.2:c.759A>G, NM_001316356.1:c.759A>G, NM_001316355.2:c.786A>G, NM_001316355.1:c.786A>G, NM_001316358.2:c.645A>G, NM_001316358.1:c.645A>G, NM_001199125.1:c.900A>G, XM_047436961.1:c.585A>G

Select item 14523643787.

rs1452364378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17262095 (GRCh38)
17:17165409 (GRCh37)
Canonical SPDI:: NC_000017.11:17262094:A:G
Gene:: COPS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0049/9 (Korea1K)
HGVS:: NC_000017.11:g.17262095A>G, NC_000017.10:g.17165409A>G, NM_003653.4:c.633T>C, NM_003653.3:c.633T>C, NM_001316354.2:c.243T>C, NM_001316354.1:c.243T>C, NM_001316357.2:c.318T>C, NM_001316357.1:c.318T>C, NM_001316356.2:c.432T>C, NM_001316356.1:c.432T>C, NM_001316355.2:c.633T>C, NM_001316355.1:c.633T>C, NM_001316358.2:c.318T>C, NM_001316358.1:c.318T>C, NM_001199125.1:c.573T>C, XM_047436961.1:c.432T>C

Select item 14472914728.

rs1447291472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17260367 (GRCh38)
17:17163681 (GRCh37)
Canonical SPDI:: NC_000017.11:17260366:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17260367G>A, NC_000017.10:g.17163681G>A, NM_003653.4:c.870C>T, NM_003653.3:c.870C>T, NM_001316354.2:c.480C>T, NM_001316354.1:c.480C>T, NM_001316357.2:c.555C>T, NM_001316357.1:c.555C>T, NM_001316356.2:c.669C>T, NM_001316356.1:c.669C>T, NM_001316358.2:c.555C>T, NM_001316358.1:c.555C>T, NM_001199125.1:c.810C>T

Select item 14365528279.

rs1436552827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17270900 (GRCh38)
17:17174214 (GRCh37)
Canonical SPDI:: NC_000017.11:17270899:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17270900G>A, NC_000017.10:g.17174214G>A, NM_003653.4:c.294C>T, NM_003653.3:c.294C>T, NM_001316354.2:c.-165C>T, NM_001316354.1:c.-165C>T, NM_001316357.2:c.29C>T, NM_001316357.1:c.29C>T, NM_001316356.2:c.93C>T, NM_001316356.1:c.93C>T, NM_001316355.2:c.294C>T, NM_001316355.1:c.294C>T, NM_001316358.2:c.29C>T, NM_001316358.1:c.29C>T, NM_001199125.1:c.234C>T, XM_047436961.1:c.93C>T, NP_001303286.1:p.Thr10Ile, NP_001303287.1:p.Thr10Ile

Select item 143203777110.

rs1432037771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:17276056 (GRCh38)
17:17179370 (GRCh37)
Canonical SPDI:: NC_000017.11:17276055:G:C
Gene:: COPS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17276056G>C, NC_000017.10:g.17179370G>C, NM_003653.4:c.164C>G, NM_003653.3:c.164C>G, NM_001316354.2:c.-295C>G, NM_001316354.1:c.-295C>G, NM_001316357.2:c.-102C>G, NM_001316357.1:c.-102C>G, NM_001316355.2:c.164C>G, NM_001316355.1:c.164C>G, NM_001199125.1:c.104C>G, NP_003644.2:p.Ser55Cys, NP_001303284.1:p.Ser55Cys, NP_001186054.1:p.Ser35Cys

Select item 142339344911.

rs1423393449 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 17:17247102 (GRCh38)
17:17150416 (GRCh37)
Canonical SPDI:: NC_000017.11:17247099:AAGAA:AA
Gene:: COPS3 (Varview)
Functional Consequence:: terminator_codon_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.17247102_17247104del, NC_000017.10:g.17150416_17150418del, NM_003653.4:c.1268_1270del, NM_003653.3:c.1268_1270del, NM_001316354.2:c.878_880del, NM_001316354.1:c.878_880del, NM_001316357.2:c.953_955del, NM_001316357.1:c.953_955del, NM_001316356.2:c.1067_1069del, NM_001316356.1:c.1067_1069del, NM_001316355.2:c.1094_1096del, NM_001316355.1:c.1094_1096del, NM_001316358.2:c.953_955del, NM_001316358.1:c.953_955del, NM_001199125.1:c.1208_1210del, XM_047436961.1:c.893_895del, NP_003644.2:p.Ser423del, NP_001303283.1:p.Ser293del, NP_001303286.1:p.Ser318del, NP_001303285.1:p.Ser356del, NP_001303284.1:p.Ser365del, NP_001303287.1:p.Ser318del, NP_001186054.1:p.Ser403del, XP_047292917.1:p.Ser298del

Select item 142119795712.

rs1421197957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17260347 (GRCh38)
17:17163661 (GRCh37)
Canonical SPDI:: NC_000017.11:17260346:T:C
Gene:: COPS3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17260347T>C, NC_000017.10:g.17163661T>C, NM_003653.4:c.890A>G, NM_003653.3:c.890A>G, NM_001316354.2:c.500A>G, NM_001316354.1:c.500A>G, NM_001316357.2:c.575A>G, NM_001316357.1:c.575A>G, NM_001316356.2:c.689A>G, NM_001316356.1:c.689A>G, NM_001316358.2:c.575A>G, NM_001316358.1:c.575A>G, NM_001199125.1:c.830A>G, NP_003644.2:p.Gln297Arg, NP_001303283.1:p.Gln167Arg, NP_001303286.1:p.Gln192Arg, NP_001303285.1:p.Gln230Arg, NP_001303287.1:p.Gln192Arg, NP_001186054.1:p.Gln277Arg

Select item 142002866813.

rs1420028668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:17281183 (GRCh38)
17:17184497 (GRCh37)
Canonical SPDI:: NC_000017.11:17281182:C:A,NC_000017.11:17281182:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17281183C>A, NC_000017.11:g.17281183C>T, NC_000017.10:g.17184497C>A, NC_000017.10:g.17184497C>T, NM_003653.4:c.4G>T, NM_003653.4:c.4G>A, NM_003653.3:c.4G>T, NM_003653.3:c.4G>A, NM_001316354.2:c.-474G>T, NM_001316354.2:c.-474G>A, NM_001316354.1:c.-474G>T, NM_001316354.1:c.-474G>A, NM_001316357.2:c.-262G>T, NM_001316357.2:c.-262G>A, NM_001316357.1:c.-262G>T, NM_001316357.1:c.-262G>A, NM_001316356.2:c.-68G>T, NM_001316356.2:c.-68G>A, NM_001316356.1:c.-68G>T, NM_001316356.1:c.-68G>A, NM_001316355.2:c.4G>T, NM_001316355.2:c.4G>A, NM_001316355.1:c.4G>T, NM_001316355.1:c.4G>A, NM_001316358.2:c.-132G>T, NM_001316358.2:c.-132G>A, NM_001316358.1:c.-132G>T, NM_001316358.1:c.-132G>A, XM_047436961.1:c.-68G>T, XM_047436961.1:c.-68G>A, NP_003644.2:p.Ala2Ser, NP_003644.2:p.Ala2Thr, NP_001303284.1:p.Ala2Ser, NP_001303284.1:p.Ala2Thr

Select item 141887178714.

rs1418871787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17264931 (GRCh38)
17:17168245 (GRCh37)
Canonical SPDI:: NC_000017.11:17264930:C:T
Gene:: COPS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17264931C>T, NC_000017.10:g.17168245C>T, NM_003653.4:c.492G>A, NM_003653.3:c.492G>A, NM_001316354.2:c.102G>A, NM_001316354.1:c.102G>A, NM_001316357.2:c.177G>A, NM_001316357.1:c.177G>A, NM_001316356.2:c.291G>A, NM_001316356.1:c.291G>A, NM_001316355.2:c.492G>A, NM_001316355.1:c.492G>A, NM_001316358.2:c.177G>A, NM_001316358.1:c.177G>A, NM_001199125.1:c.432G>A, XM_047436961.1:c.291G>A

Select item 141695738215.

rs1416957382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17270963 (GRCh38)
17:17174277 (GRCh37)
Canonical SPDI:: NC_000017.11:17270962:T:C
Gene:: COPS3 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.17270963T>C, NC_000017.10:g.17174277T>C, NM_003653.4:c.231A>G, NM_003653.3:c.231A>G, NM_001316354.2:c.-228A>G, NM_001316354.1:c.-228A>G, NM_001316357.2:c.-35A>G, NM_001316357.1:c.-35A>G, NM_001316356.2:c.30A>G, NM_001316356.1:c.30A>G, NM_001316355.2:c.231A>G, NM_001316355.1:c.231A>G, NM_001316358.2:c.-35A>G, NM_001316358.1:c.-35A>G, NM_001199125.1:c.171A>G, XM_047436961.1:c.30A>G

Select item 141654595416.

rs1416545954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:17264920 (GRCh38)
17:17168234 (GRCh37)
Canonical SPDI:: NC_000017.11:17264919:T:C
Gene:: COPS3 (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_000017.11:g.17264920T>C, NC_000017.10:g.17168234T>C, NM_003653.4:c.503A>G, NM_003653.3:c.503A>G, NM_001316354.2:c.113A>G, NM_001316354.1:c.113A>G, NM_001316357.2:c.188A>G, NM_001316357.1:c.188A>G, NM_001316356.2:c.302A>G, NM_001316356.1:c.302A>G, NM_001316355.2:c.503A>G, NM_001316355.1:c.503A>G, NM_001316358.2:c.188A>G, NM_001316358.1:c.188A>G, NM_001199125.1:c.443A>G, XM_047436961.1:c.302A>G, NP_003644.2:p.Asp168Gly, NP_001303283.1:p.Asp38Gly, NP_001303286.1:p.Asp63Gly, NP_001303285.1:p.Asp101Gly, NP_001303284.1:p.Asp168Gly, NP_001303287.1:p.Asp63Gly, NP_001186054.1:p.Asp148Gly, XP_047292917.1:p.Asp101Gly

Select item 141338102417.

rs1413381024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17247123 (GRCh38)
17:17150437 (GRCh37)
Canonical SPDI:: NC_000017.11:17247122:C:T
Gene:: COPS3 (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)
HGVS:: NC_000017.11:g.17247123C>T, NC_000017.10:g.17150437C>T, NM_003653.4:c.1247G>A, NM_003653.3:c.1247G>A, NM_001316354.2:c.857G>A, NM_001316354.1:c.857G>A, NM_001316357.2:c.932G>A, NM_001316357.1:c.932G>A, NM_001316356.2:c.1046G>A, NM_001316356.1:c.1046G>A, NM_001316355.2:c.1073G>A, NM_001316355.1:c.1073G>A, NM_001316358.2:c.932G>A, NM_001316358.1:c.932G>A, NM_001199125.1:c.1187G>A, XM_047436961.1:c.872G>A, NP_003644.2:p.Gly416Glu, NP_001303283.1:p.Gly286Glu, NP_001303286.1:p.Gly311Glu, NP_001303285.1:p.Gly349Glu, NP_001303284.1:p.Gly358Glu, NP_001303287.1:p.Gly311Glu, NP_001186054.1:p.Gly396Glu, XP_047292917.1:p.Gly291Glu

Select item 140813888218.

rs1408138882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:17270948 (GRCh38)
17:17174262 (GRCh37)
Canonical SPDI:: NC_000017.11:17270947:C:G
Gene:: COPS3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17270948C>G, NC_000017.10:g.17174262C>G, NM_003653.4:c.246G>C, NM_003653.3:c.246G>C, NM_001316354.2:c.-213G>C, NM_001316354.1:c.-213G>C, NM_001316357.2:c.-20G>C, NM_001316357.1:c.-20G>C, NM_001316356.2:c.45G>C, NM_001316356.1:c.45G>C, NM_001316355.2:c.246G>C, NM_001316355.1:c.246G>C, NM_001316358.2:c.-20G>C, NM_001316358.1:c.-20G>C, NM_001199125.1:c.186G>C, XM_047436961.1:c.45G>C, NP_003644.2:p.Gln82His, NP_001303285.1:p.Gln15His, NP_001303284.1:p.Gln82His, NP_001186054.1:p.Gln62His, XP_047292917.1:p.Gln15His

Select item 140433959619.

rs1404339596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17270942 (GRCh38)
17:17174256 (GRCh37)
Canonical SPDI:: NC_000017.11:17270941:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17270942G>A, NC_000017.10:g.17174256G>A, NM_003653.4:c.252C>T, NM_003653.3:c.252C>T, NM_001316354.2:c.-207C>T, NM_001316354.1:c.-207C>T, NM_001316357.2:c.-14C>T, NM_001316357.1:c.-14C>T, NM_001316356.2:c.51C>T, NM_001316356.1:c.51C>T, NM_001316355.2:c.252C>T, NM_001316355.1:c.252C>T, NM_001316358.2:c.-14C>T, NM_001316358.1:c.-14C>T, NM_001199125.1:c.192C>T, XM_047436961.1:c.51C>T

Select item 140154545020.

rs1401545450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17254896 (GRCh38)
17:17158210 (GRCh37)
Canonical SPDI:: NC_000017.11:17254895:G:A
Gene:: COPS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.17254896G>A, NC_000017.10:g.17158210G>A, NM_003653.4:c.986C>T, NM_003653.3:c.986C>T, NM_001316354.2:c.596C>T, NM_001316354.1:c.596C>T, NM_001316357.2:c.671C>T, NM_001316357.1:c.671C>T, NM_001316356.2:c.785C>T, NM_001316356.1:c.785C>T, NM_001316355.2:c.812C>T, NM_001316355.1:c.812C>T, NM_001316358.2:c.671C>T, NM_001316358.1:c.671C>T, NM_001199125.1:c.926C>T, XM_047436961.1:c.611C>T, NP_003644.2:p.Ser329Phe, NP_001303283.1:p.Ser199Phe, NP_001303286.1:p.Ser224Phe, NP_001303285.1:p.Ser262Phe, NP_001303284.1:p.Ser271Phe, NP_001303287.1:p.Ser224Phe, NP_001186054.1:p.Ser309Phe, XP_047292917.1:p.Ser204Phe

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