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Links from Protein

Items: 1 to 20 of 196

2.
3.

rs1480855937 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    8:28339045 (GRCh38)
    8:28196562 (GRCh37)
    Canonical SPDI:
    NC_000008.11:28339044:C:T
    Gene:
    PNOC (Varview)
    Functional Consequence:
    5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    T=0.000177/3 (TOMMO)
    HGVS:
    4.

    rs1476572139 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:28339138 (GRCh38)
      8:28196655 (GRCh37)
      Canonical SPDI:
      NC_000008.11:28339137:C:T
      Gene:
      PNOC (Varview)
      Functional Consequence:
      synonymous_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:
      5.

      rs1469524140 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        8:28343005 (GRCh38)
        8:28200522 (GRCh37)
        Canonical SPDI:
        NC_000008.11:28343004:T:A
        Gene:
        PNOC (Varview)
        Functional Consequence:
        3_prime_UTR_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        6.

        rs1455063971 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          8:28339216 (GRCh38)
          8:28196733 (GRCh37)
          Canonical SPDI:
          NC_000008.11:28339215:C:T
          Gene:
          PNOC (Varview)
          Functional Consequence:
          coding_sequence_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:
          7.
          8.

          rs1443038008 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:28329197 (GRCh38)
            8:28186714 (GRCh37)
            Canonical SPDI:
            NC_000008.11:28329196:T:C
            Gene:
            PNOC (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            9.
            10.

            rs1441337503 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:28339282 (GRCh38)
              8:28196799 (GRCh37)
              Canonical SPDI:
              NC_000008.11:28339281:G:A
              Gene:
              PNOC (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              11.

              rs1434909910 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:28329245 (GRCh38)
                8:28186762 (GRCh37)
                Canonical SPDI:
                NC_000008.11:28329244:G:A
                Gene:
                PNOC (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000012/3 (GnomAD_exomes)
                A=0.000019/5 (TOPMED)
                HGVS:
                12.

                rs1425591704 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:28342989 (GRCh38)
                  8:28200506 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:28342988:C:T
                  Gene:
                  PNOC (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000021/3 (GnomAD)
                  T=0.000034/9 (TOPMED)
                  T=0.000035/1 (TOMMO)
                  HGVS:
                  15.

                  rs1421631870 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    8:28339093 (GRCh38)
                    8:28196610 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:28339092:A:G
                    Gene:
                    PNOC (Varview)
                    Functional Consequence:
                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    16.

                    rs1419596716 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      8:28339141 (GRCh38)
                      8:28196658 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:28339140:C:G
                      Gene:
                      PNOC (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      17.

                      rs1418798474 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:28329164 (GRCh38)
                        8:28186681 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:28329163:G:A
                        Gene:
                        PNOC (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        18.
                        19.

                        rs1413292200 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:28339323 (GRCh38)
                          8:28196840 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:28339322:G:A
                          Gene:
                          PNOC (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          20.

                          rs1411574692 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            8:28339413 (GRCh38)
                            8:28196930 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:28339412:G:A,NC_000008.11:28339412:G:C,NC_000008.11:28339412:G:T
                            Gene:
                            PNOC (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000019/4 (GnomAD_exomes)
                            HGVS:
                            NC_000008.11:g.28339413G>A, NC_000008.11:g.28339413G>C, NC_000008.11:g.28339413G>T, NC_000008.10:g.28196930G>A, NC_000008.10:g.28196930G>C, NC_000008.10:g.28196930G>T, NM_006228.5:c.500G>A, NM_006228.5:c.500G>C, NM_006228.5:c.500G>T, NM_006228.4:c.500G>A, NM_006228.4:c.500G>C, NM_006228.4:c.500G>T, NM_006228.3:c.500G>A, NM_006228.3:c.500G>C, NM_006228.3:c.500G>T, XM_011544559.3:c.500G>A, XM_011544559.3:c.500G>C, XM_011544559.3:c.500G>T, XM_011544559.2:c.500G>A, XM_011544559.2:c.500G>C, XM_011544559.2:c.500G>T, XM_011544559.1:c.500G>A, XM_011544559.1:c.500G>C, XM_011544559.1:c.500G>T, XM_005273532.3:c.500G>A, XM_005273532.3:c.500G>C, XM_005273532.3:c.500G>T, XM_005273532.2:c.500G>A, XM_005273532.2:c.500G>C, XM_005273532.2:c.500G>T, XM_005273532.1:c.500G>A, XM_005273532.1:c.500G>C, XM_005273532.1:c.500G>T, NM_001284244.2:c.308G>A, NM_001284244.2:c.308G>C, NM_001284244.2:c.308G>T, NM_001284244.1:c.308G>A, NM_001284244.1:c.308G>C, NM_001284244.1:c.308G>T, NP_006219.1:p.Arg167Gln, NP_006219.1:p.Arg167Pro, NP_006219.1:p.Arg167Leu, XP_011542861.1:p.Arg167Gln, XP_011542861.1:p.Arg167Pro, XP_011542861.1:p.Arg167Leu, XP_005273589.1:p.Arg167Gln, XP_005273589.1:p.Arg167Pro, XP_005273589.1:p.Arg167Leu, NP_001271173.1:p.Arg103Gln, NP_001271173.1:p.Arg103Pro, NP_001271173.1:p.Arg103Leu

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