U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 132

1.

rs1486419257 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:44936810 (GRCh38)
    11:44958361 (GRCh37)
    Canonical SPDI:
    NC_000011.10:44936809:G:A
    Gene:
    TP53I11 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000224/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000223/1 (Estonian)
    HGVS:
    NC_000011.10:g.44936810G>A, NC_000011.9:g.44958361G>A, NM_006034.5:c.327C>T, NM_006034.4:c.327C>T, NM_006034.3:c.327C>T, XM_005253227.4:c.327C>T, XM_005253227.3:c.327C>T, XM_005253227.2:c.327C>T, XM_005253227.1:c.327C>T, XM_011520476.3:c.327C>T, XM_011520476.2:c.327C>T, XM_011520476.1:c.327C>T, NM_001258323.3:c.327C>T, NM_001258323.2:c.327C>T, NM_001258323.1:c.327C>T, XM_017018580.3:c.327C>T, XM_017018580.2:c.327C>T, XM_017018580.1:c.327C>T, NM_001258320.2:c.327C>T, NM_001258320.1:c.327C>T, NM_001318390.2:c.93C>T, NM_001318390.1:c.93C>T, XM_011520477.2:c.327C>T, XM_011520477.1:c.327C>T, NR_134612.2:n.565C>T, NR_134612.1:n.586C>T, XM_011520478.2:c.327C>T, XM_011520478.1:c.327C>T, NM_001318384.2:c.327C>T, NM_001318384.1:c.327C>T, XM_017018581.2:c.327C>T, XM_017018581.1:c.327C>T, NM_001318388.2:c.168C>T, NM_001318388.1:c.168C>T, XM_005253229.2:c.327C>T, XM_005253229.1:c.327C>T, NM_001258321.1:c.327C>T, NM_001318386.1:c.327C>T, NM_001076787.1:c.327C>T, NM_001318385.1:c.327C>T, NM_001258322.1:c.327C>T, NM_001258324.1:c.327C>T, XM_047427890.1:c.327C>T, XM_047427893.1:c.327C>T, XM_047427891.1:c.327C>T, XM_047427892.1:c.327C>T, XM_047427894.1:c.327C>T
    2.

    rs1484190518 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:44935587 (GRCh38)
      11:44957138 (GRCh37)
      Canonical SPDI:
      NC_000011.10:44935586:G:A
      Gene:
      TP53I11 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:
      NC_000011.10:g.44935587G>A, NC_000011.9:g.44957138G>A, NM_006034.5:c.410C>T, NM_006034.4:c.410C>T, NM_006034.3:c.410C>T, XM_005253227.4:c.410C>T, XM_005253227.3:c.410C>T, XM_005253227.2:c.410C>T, XM_005253227.1:c.410C>T, XM_011520476.3:c.410C>T, XM_011520476.2:c.410C>T, XM_011520476.1:c.410C>T, NM_001258323.3:c.410C>T, NM_001258323.2:c.410C>T, NM_001258323.1:c.410C>T, XM_017018580.3:c.410C>T, XM_017018580.2:c.410C>T, XM_017018580.1:c.410C>T, NM_001258320.2:c.410C>T, NM_001258320.1:c.410C>T, NM_001318390.2:c.176C>T, NM_001318390.1:c.176C>T, XM_011520477.2:c.410C>T, XM_011520477.1:c.410C>T, NR_134612.2:n.779C>T, NR_134612.1:n.800C>T, XM_011520478.2:c.410C>T, XM_011520478.1:c.410C>T, NM_001318384.2:c.410C>T, NM_001318384.1:c.410C>T, XM_017018581.2:c.410C>T, XM_017018581.1:c.410C>T, NM_001318388.2:c.251C>T, NM_001318388.1:c.251C>T, NM_001318389.2:c.185C>T, NM_001318389.1:c.185C>T, NM_001318387.2:c.254C>T, NM_001318387.1:c.254C>T, NM_001258321.1:c.410C>T, NM_001318386.1:c.410C>T, NM_001076787.1:c.410C>T, NM_001318385.1:c.410C>T, NM_001258322.1:c.410C>T, NM_001258324.1:c.410C>T, XM_047427890.1:c.410C>T, XM_047427893.1:c.410C>T, XM_047427891.1:c.410C>T, XM_047427892.1:c.410C>T, NP_006025.2:p.Ala137Val, XP_005253284.1:p.Ala137Val, XP_011518778.1:p.Ala137Val, NP_001245252.1:p.Ala137Val, XP_016874069.1:p.Ala137Val, NP_001245249.1:p.Ala137Val, NP_001305319.1:p.Ala59Val, XP_011518779.1:p.Ala137Val, XP_011518780.1:p.Ala137Val, NP_001305313.1:p.Ala137Val, XP_016874070.1:p.Ala137Val, NP_001305317.1:p.Ala84Val, NP_001305318.1:p.Ala62Val, NP_001305316.1:p.Ala85Val, NP_001245250.1:p.Ala137Val, NP_001305315.1:p.Ala137Val, NP_001305314.1:p.Ala137Val, NP_001245251.1:p.Ala137Val, NP_001245253.1:p.Ala137Val, XP_047283846.1:p.Ala137Val, XP_047283849.1:p.Ala137Val, XP_047283847.1:p.Ala137Val, XP_047283848.1:p.Ala137Val
      3.

      rs1463804412 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:44934914 (GRCh38)
        11:44956465 (GRCh37)
        Canonical SPDI:
        NC_000011.10:44934913:G:A
        Gene:
        TP53I11 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000011.10:g.44934914G>A, NC_000011.9:g.44956465G>A, NM_006034.5:c.540C>T, NM_006034.4:c.540C>T, NM_006034.3:c.540C>T, XM_005253227.4:c.540C>T, XM_005253227.3:c.540C>T, XM_005253227.2:c.540C>T, XM_005253227.1:c.540C>T, XM_011520476.3:c.540C>T, XM_011520476.2:c.540C>T, XM_011520476.1:c.540C>T, NM_001258323.3:c.540C>T, NM_001258323.2:c.540C>T, NM_001258323.1:c.540C>T, XM_017018580.3:c.540C>T, XM_017018580.2:c.540C>T, XM_017018580.1:c.540C>T, NM_001258320.2:c.540C>T, NM_001258320.1:c.540C>T, NM_001318390.2:c.306C>T, NM_001318390.1:c.306C>T, XM_011520477.2:c.540C>T, XM_011520477.1:c.540C>T, NR_134612.2:n.909C>T, NR_134612.1:n.930C>T, XM_011520478.2:c.540C>T, XM_011520478.1:c.540C>T, NM_001318384.2:c.540C>T, NM_001318384.1:c.540C>T, XM_017018581.2:c.540C>T, XM_017018581.1:c.540C>T, NM_001318388.2:c.381C>T, NM_001318388.1:c.381C>T, NM_001318389.2:c.315C>T, NM_001318389.1:c.315C>T, NM_001318387.2:c.384C>T, NM_001318387.1:c.384C>T, NM_001258321.1:c.540C>T, NM_001318386.1:c.540C>T, NM_001076787.1:c.540C>T, NM_001318385.1:c.540C>T, NM_001258322.1:c.540C>T, NM_001258324.1:c.540C>T, XM_047427890.1:c.540C>T, XM_047427893.1:c.540C>T, XM_047427891.1:c.540C>T, XM_047427892.1:c.540C>T
        4.

        rs1461879524 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:44937328 (GRCh38)
          11:44958879 (GRCh37)
          Canonical SPDI:
          NC_000011.10:44937327:C:A
          Gene:
          TP53I11 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
          HGVS:
          NC_000011.10:g.44937328C>A, NC_000011.9:g.44958879C>A, NM_006034.5:c.213G>T, NM_006034.4:c.213G>T, NM_006034.3:c.213G>T, XM_005253227.4:c.213G>T, XM_005253227.3:c.213G>T, XM_005253227.2:c.213G>T, XM_005253227.1:c.213G>T, XM_011520476.3:c.213G>T, XM_011520476.2:c.213G>T, XM_011520476.1:c.213G>T, NM_001258323.3:c.213G>T, NM_001258323.2:c.213G>T, NM_001258323.1:c.213G>T, XM_017018580.3:c.213G>T, XM_017018580.2:c.213G>T, XM_017018580.1:c.213G>T, NM_001258320.2:c.213G>T, NM_001258320.1:c.213G>T, NM_001318390.2:c.-217G>T, NM_001318390.1:c.-217G>T, XM_011520477.2:c.213G>T, XM_011520477.1:c.213G>T, NR_134612.2:n.451G>T, NR_134612.1:n.472G>T, XM_011520478.2:c.213G>T, XM_011520478.1:c.213G>T, NM_001318384.2:c.213G>T, NM_001318384.1:c.213G>T, XM_017018581.2:c.213G>T, XM_017018581.1:c.213G>T, NM_001318388.2:c.54G>T, NM_001318388.1:c.54G>T, NM_001318389.2:c.65G>T, NM_001318389.1:c.65G>T, NM_001318387.2:c.154G>T, NM_001318387.1:c.154G>T, XM_005253229.2:c.213G>T, XM_005253229.1:c.213G>T, NM_001258321.1:c.213G>T, NM_001318386.1:c.213G>T, NM_001076787.1:c.213G>T, NM_001318385.1:c.213G>T, NM_001258322.1:c.213G>T, NM_001258324.1:c.213G>T, XM_047427890.1:c.213G>T, XM_047427893.1:c.213G>T, XM_047427891.1:c.213G>T, XM_047427892.1:c.213G>T, XM_047427894.1:c.213G>T, NP_001305318.1:p.Cys22Phe, NP_001305316.1:p.Ala52Ser
          5.

          rs1454813929 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:44936859 (GRCh38)
            11:44958410 (GRCh37)
            Canonical SPDI:
            NC_000011.10:44936858:T:C
            Gene:
            TP53I11 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000047/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.44936859T>C, NC_000011.9:g.44958410T>C, NM_006034.5:c.278A>G, NM_006034.4:c.278A>G, NM_006034.3:c.278A>G, XM_005253227.4:c.278A>G, XM_005253227.3:c.278A>G, XM_005253227.2:c.278A>G, XM_005253227.1:c.278A>G, XM_011520476.3:c.278A>G, XM_011520476.2:c.278A>G, XM_011520476.1:c.278A>G, NM_001258323.3:c.278A>G, NM_001258323.2:c.278A>G, NM_001258323.1:c.278A>G, XM_017018580.3:c.278A>G, XM_017018580.2:c.278A>G, XM_017018580.1:c.278A>G, NM_001258320.2:c.278A>G, NM_001258320.1:c.278A>G, NM_001318390.2:c.44A>G, NM_001318390.1:c.44A>G, XM_011520477.2:c.278A>G, XM_011520477.1:c.278A>G, NR_134612.2:n.516A>G, NR_134612.1:n.537A>G, XM_011520478.2:c.278A>G, XM_011520478.1:c.278A>G, NM_001318384.2:c.278A>G, NM_001318384.1:c.278A>G, XM_017018581.2:c.278A>G, XM_017018581.1:c.278A>G, NM_001318388.2:c.119A>G, NM_001318388.1:c.119A>G, XM_005253229.2:c.278A>G, XM_005253229.1:c.278A>G, NM_001258321.1:c.278A>G, NM_001318386.1:c.278A>G, NM_001076787.1:c.278A>G, NM_001318385.1:c.278A>G, NM_001258322.1:c.278A>G, NM_001258324.1:c.278A>G, XM_047427890.1:c.278A>G, XM_047427893.1:c.278A>G, XM_047427891.1:c.278A>G, XM_047427892.1:c.278A>G, XM_047427894.1:c.278A>G, NP_006025.2:p.Asp93Gly, XP_005253284.1:p.Asp93Gly, XP_011518778.1:p.Asp93Gly, NP_001245252.1:p.Asp93Gly, XP_016874069.1:p.Asp93Gly, NP_001245249.1:p.Asp93Gly, NP_001305319.1:p.Asp15Gly, XP_011518779.1:p.Asp93Gly, XP_011518780.1:p.Asp93Gly, NP_001305313.1:p.Asp93Gly, XP_016874070.1:p.Asp93Gly, NP_001305317.1:p.Asp40Gly, XP_005253286.1:p.Asp93Gly, NP_001245250.1:p.Asp93Gly, NP_001305315.1:p.Asp93Gly, NP_001305314.1:p.Asp93Gly, NP_001245251.1:p.Asp93Gly, NP_001245253.1:p.Asp93Gly, XP_047283846.1:p.Asp93Gly, XP_047283849.1:p.Asp93Gly, XP_047283847.1:p.Asp93Gly, XP_047283848.1:p.Asp93Gly, XP_047283850.1:p.Asp93Gly
            6.

            rs1454175212 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              11:44936835 (GRCh38)
              11:44958386 (GRCh37)
              Canonical SPDI:
              NC_000011.10:44936834:G:T
              Gene:
              TP53I11 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.44936835G>T, NC_000011.9:g.44958386G>T, NM_006034.5:c.302C>A, NM_006034.4:c.302C>A, NM_006034.3:c.302C>A, XM_005253227.4:c.302C>A, XM_005253227.3:c.302C>A, XM_005253227.2:c.302C>A, XM_005253227.1:c.302C>A, XM_011520476.3:c.302C>A, XM_011520476.2:c.302C>A, XM_011520476.1:c.302C>A, NM_001258323.3:c.302C>A, NM_001258323.2:c.302C>A, NM_001258323.1:c.302C>A, XM_017018580.3:c.302C>A, XM_017018580.2:c.302C>A, XM_017018580.1:c.302C>A, NM_001258320.2:c.302C>A, NM_001258320.1:c.302C>A, NM_001318390.2:c.68C>A, NM_001318390.1:c.68C>A, XM_011520477.2:c.302C>A, XM_011520477.1:c.302C>A, NR_134612.2:n.540C>A, NR_134612.1:n.561C>A, XM_011520478.2:c.302C>A, XM_011520478.1:c.302C>A, NM_001318384.2:c.302C>A, NM_001318384.1:c.302C>A, XM_017018581.2:c.302C>A, XM_017018581.1:c.302C>A, NM_001318388.2:c.143C>A, NM_001318388.1:c.143C>A, XM_005253229.2:c.302C>A, XM_005253229.1:c.302C>A, NM_001258321.1:c.302C>A, NM_001318386.1:c.302C>A, NM_001076787.1:c.302C>A, NM_001318385.1:c.302C>A, NM_001258322.1:c.302C>A, NM_001258324.1:c.302C>A, XM_047427890.1:c.302C>A, XM_047427893.1:c.302C>A, XM_047427891.1:c.302C>A, XM_047427892.1:c.302C>A, XM_047427894.1:c.302C>A, NP_006025.2:p.Thr101Asn, XP_005253284.1:p.Thr101Asn, XP_011518778.1:p.Thr101Asn, NP_001245252.1:p.Thr101Asn, XP_016874069.1:p.Thr101Asn, NP_001245249.1:p.Thr101Asn, NP_001305319.1:p.Thr23Asn, XP_011518779.1:p.Thr101Asn, XP_011518780.1:p.Thr101Asn, NP_001305313.1:p.Thr101Asn, XP_016874070.1:p.Thr101Asn, NP_001305317.1:p.Thr48Asn, XP_005253286.1:p.Thr101Asn, NP_001245250.1:p.Thr101Asn, NP_001305315.1:p.Thr101Asn, NP_001305314.1:p.Thr101Asn, NP_001245251.1:p.Thr101Asn, NP_001245253.1:p.Thr101Asn, XP_047283846.1:p.Thr101Asn, XP_047283849.1:p.Thr101Asn, XP_047283847.1:p.Thr101Asn, XP_047283848.1:p.Thr101Asn, XP_047283850.1:p.Thr101Asn
              7.

              rs1447840900 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:44935009 (GRCh38)
                11:44956560 (GRCh37)
                Canonical SPDI:
                NC_000011.10:44935008:C:T
                Gene:
                TP53I11 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.44935009C>T, NC_000011.9:g.44956560C>T, NM_006034.5:c.445G>A, NM_006034.4:c.445G>A, NM_006034.3:c.445G>A, XM_005253227.4:c.445G>A, XM_005253227.3:c.445G>A, XM_005253227.2:c.445G>A, XM_005253227.1:c.445G>A, XM_011520476.3:c.445G>A, XM_011520476.2:c.445G>A, XM_011520476.1:c.445G>A, NM_001258323.3:c.445G>A, NM_001258323.2:c.445G>A, NM_001258323.1:c.445G>A, XM_017018580.3:c.445G>A, XM_017018580.2:c.445G>A, XM_017018580.1:c.445G>A, NM_001258320.2:c.445G>A, NM_001258320.1:c.445G>A, NM_001318390.2:c.211G>A, NM_001318390.1:c.211G>A, XM_011520477.2:c.445G>A, XM_011520477.1:c.445G>A, NR_134612.2:n.814G>A, NR_134612.1:n.835G>A, XM_011520478.2:c.445G>A, XM_011520478.1:c.445G>A, NM_001318384.2:c.445G>A, NM_001318384.1:c.445G>A, XM_017018581.2:c.445G>A, XM_017018581.1:c.445G>A, NM_001318388.2:c.286G>A, NM_001318388.1:c.286G>A, NM_001318389.2:c.220G>A, NM_001318389.1:c.220G>A, NM_001318387.2:c.289G>A, NM_001318387.1:c.289G>A, NM_001258321.1:c.445G>A, NM_001318386.1:c.445G>A, NM_001076787.1:c.445G>A, NM_001318385.1:c.445G>A, NM_001258322.1:c.445G>A, NM_001258324.1:c.445G>A, XM_047427890.1:c.445G>A, XM_047427893.1:c.445G>A, XM_047427891.1:c.445G>A, XM_047427892.1:c.445G>A, NP_006025.2:p.Ala149Thr, XP_005253284.1:p.Ala149Thr, XP_011518778.1:p.Ala149Thr, NP_001245252.1:p.Ala149Thr, XP_016874069.1:p.Ala149Thr, NP_001245249.1:p.Ala149Thr, NP_001305319.1:p.Ala71Thr, XP_011518779.1:p.Ala149Thr, XP_011518780.1:p.Ala149Thr, NP_001305313.1:p.Ala149Thr, XP_016874070.1:p.Ala149Thr, NP_001305317.1:p.Ala96Thr, NP_001305318.1:p.Ala74Thr, NP_001305316.1:p.Ala97Thr, NP_001245250.1:p.Ala149Thr, NP_001305315.1:p.Ala149Thr, NP_001305314.1:p.Ala149Thr, NP_001245251.1:p.Ala149Thr, NP_001245253.1:p.Ala149Thr, XP_047283846.1:p.Ala149Thr, XP_047283849.1:p.Ala149Thr, XP_047283847.1:p.Ala149Thr, XP_047283848.1:p.Ala149Thr
                8.

                rs1446258482 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:44935660 (GRCh38)
                  11:44957211 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:44935659:T:C
                  Gene:
                  TP53I11 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.44935660T>C, NC_000011.9:g.44957211T>C, NM_006034.5:c.337A>G, NM_006034.4:c.337A>G, NM_006034.3:c.337A>G, XM_005253227.4:c.337A>G, XM_005253227.3:c.337A>G, XM_005253227.2:c.337A>G, XM_005253227.1:c.337A>G, XM_011520476.3:c.337A>G, XM_011520476.2:c.337A>G, XM_011520476.1:c.337A>G, NM_001258323.3:c.337A>G, NM_001258323.2:c.337A>G, NM_001258323.1:c.337A>G, XM_017018580.3:c.337A>G, XM_017018580.2:c.337A>G, XM_017018580.1:c.337A>G, NM_001258320.2:c.337A>G, NM_001258320.1:c.337A>G, NM_001318390.2:c.103A>G, NM_001318390.1:c.103A>G, XM_011520477.2:c.337A>G, XM_011520477.1:c.337A>G, NR_134612.2:n.706A>G, NR_134612.1:n.727A>G, XM_011520478.2:c.337A>G, XM_011520478.1:c.337A>G, NM_001318384.2:c.337A>G, NM_001318384.1:c.337A>G, XM_017018581.2:c.337A>G, XM_017018581.1:c.337A>G, NM_001318388.2:c.178A>G, NM_001318388.1:c.178A>G, NM_001318389.2:c.112A>G, NM_001318389.1:c.112A>G, NM_001318387.2:c.181A>G, NM_001318387.1:c.181A>G, NM_001258321.1:c.337A>G, NM_001318386.1:c.337A>G, NM_001076787.1:c.337A>G, NM_001318385.1:c.337A>G, NM_001258322.1:c.337A>G, NM_001258324.1:c.337A>G, XM_047427890.1:c.337A>G, XM_047427893.1:c.337A>G, XM_047427891.1:c.337A>G, XM_047427892.1:c.337A>G, NP_006025.2:p.Ile113Val, XP_005253284.1:p.Ile113Val, XP_011518778.1:p.Ile113Val, NP_001245252.1:p.Ile113Val, XP_016874069.1:p.Ile113Val, NP_001245249.1:p.Ile113Val, NP_001305319.1:p.Ile35Val, XP_011518779.1:p.Ile113Val, XP_011518780.1:p.Ile113Val, NP_001305313.1:p.Ile113Val, XP_016874070.1:p.Ile113Val, NP_001305317.1:p.Ile60Val, NP_001305318.1:p.Ile38Val, NP_001305316.1:p.Ile61Val, NP_001245250.1:p.Ile113Val, NP_001305315.1:p.Ile113Val, NP_001305314.1:p.Ile113Val, NP_001245251.1:p.Ile113Val, NP_001245253.1:p.Ile113Val, XP_047283846.1:p.Ile113Val, XP_047283849.1:p.Ile113Val, XP_047283847.1:p.Ile113Val, XP_047283848.1:p.Ile113Val
                  9.

                  rs1428315571 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:44935006 (GRCh38)
                    11:44956557 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:44935005:T:C
                    Gene:
                    TP53I11 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000011.10:g.44935006T>C, NC_000011.9:g.44956557T>C, NM_006034.5:c.448A>G, NM_006034.4:c.448A>G, NM_006034.3:c.448A>G, XM_005253227.4:c.448A>G, XM_005253227.3:c.448A>G, XM_005253227.2:c.448A>G, XM_005253227.1:c.448A>G, XM_011520476.3:c.448A>G, XM_011520476.2:c.448A>G, XM_011520476.1:c.448A>G, NM_001258323.3:c.448A>G, NM_001258323.2:c.448A>G, NM_001258323.1:c.448A>G, XM_017018580.3:c.448A>G, XM_017018580.2:c.448A>G, XM_017018580.1:c.448A>G, NM_001258320.2:c.448A>G, NM_001258320.1:c.448A>G, NM_001318390.2:c.214A>G, NM_001318390.1:c.214A>G, XM_011520477.2:c.448A>G, XM_011520477.1:c.448A>G, NR_134612.2:n.817A>G, NR_134612.1:n.838A>G, XM_011520478.2:c.448A>G, XM_011520478.1:c.448A>G, NM_001318384.2:c.448A>G, NM_001318384.1:c.448A>G, XM_017018581.2:c.448A>G, XM_017018581.1:c.448A>G, NM_001318388.2:c.289A>G, NM_001318388.1:c.289A>G, NM_001318389.2:c.223A>G, NM_001318389.1:c.223A>G, NM_001318387.2:c.292A>G, NM_001318387.1:c.292A>G, NM_001258321.1:c.448A>G, NM_001318386.1:c.448A>G, NM_001076787.1:c.448A>G, NM_001318385.1:c.448A>G, NM_001258322.1:c.448A>G, NM_001258324.1:c.448A>G, XM_047427890.1:c.448A>G, XM_047427893.1:c.448A>G, XM_047427891.1:c.448A>G, XM_047427892.1:c.448A>G, NP_006025.2:p.Thr150Ala, XP_005253284.1:p.Thr150Ala, XP_011518778.1:p.Thr150Ala, NP_001245252.1:p.Thr150Ala, XP_016874069.1:p.Thr150Ala, NP_001245249.1:p.Thr150Ala, NP_001305319.1:p.Thr72Ala, XP_011518779.1:p.Thr150Ala, XP_011518780.1:p.Thr150Ala, NP_001305313.1:p.Thr150Ala, XP_016874070.1:p.Thr150Ala, NP_001305317.1:p.Thr97Ala, NP_001305318.1:p.Thr75Ala, NP_001305316.1:p.Thr98Ala, NP_001245250.1:p.Thr150Ala, NP_001305315.1:p.Thr150Ala, NP_001305314.1:p.Thr150Ala, NP_001245251.1:p.Thr150Ala, NP_001245253.1:p.Thr150Ala, XP_047283846.1:p.Thr150Ala, XP_047283849.1:p.Thr150Ala, XP_047283847.1:p.Thr150Ala, XP_047283848.1:p.Thr150Ala
                    10.

                    rs1427824421 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:44936828 (GRCh38)
                      11:44958379 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:44936827:G:A
                      Gene:
                      TP53I11 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.44936828G>A, NC_000011.9:g.44958379G>A, NM_006034.5:c.309C>T, NM_006034.4:c.309C>T, NM_006034.3:c.309C>T, XM_005253227.4:c.309C>T, XM_005253227.3:c.309C>T, XM_005253227.2:c.309C>T, XM_005253227.1:c.309C>T, XM_011520476.3:c.309C>T, XM_011520476.2:c.309C>T, XM_011520476.1:c.309C>T, NM_001258323.3:c.309C>T, NM_001258323.2:c.309C>T, NM_001258323.1:c.309C>T, XM_017018580.3:c.309C>T, XM_017018580.2:c.309C>T, XM_017018580.1:c.309C>T, NM_001258320.2:c.309C>T, NM_001258320.1:c.309C>T, NM_001318390.2:c.75C>T, NM_001318390.1:c.75C>T, XM_011520477.2:c.309C>T, XM_011520477.1:c.309C>T, NR_134612.2:n.547C>T, NR_134612.1:n.568C>T, XM_011520478.2:c.309C>T, XM_011520478.1:c.309C>T, NM_001318384.2:c.309C>T, NM_001318384.1:c.309C>T, XM_017018581.2:c.309C>T, XM_017018581.1:c.309C>T, NM_001318388.2:c.150C>T, NM_001318388.1:c.150C>T, XM_005253229.2:c.309C>T, XM_005253229.1:c.309C>T, NM_001258321.1:c.309C>T, NM_001318386.1:c.309C>T, NM_001076787.1:c.309C>T, NM_001318385.1:c.309C>T, NM_001258322.1:c.309C>T, NM_001258324.1:c.309C>T, XM_047427890.1:c.309C>T, XM_047427893.1:c.309C>T, XM_047427891.1:c.309C>T, XM_047427892.1:c.309C>T, XM_047427894.1:c.309C>T
                      11.

                      rs1423206072 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:44938227 (GRCh38)
                        11:44959778 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:44938226:C:T
                        Gene:
                        TP53I11 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.0003/1 (KOREAN)
                        HGVS:
                        NC_000011.10:g.44938227C>T, NC_000011.9:g.44959778C>T, NM_006034.5:c.109G>A, NM_006034.4:c.109G>A, NM_006034.3:c.109G>A, XM_005253227.4:c.109G>A, XM_005253227.3:c.109G>A, XM_005253227.2:c.109G>A, XM_005253227.1:c.109G>A, XM_011520476.3:c.109G>A, XM_011520476.2:c.109G>A, XM_011520476.1:c.109G>A, NM_001258323.3:c.109G>A, NM_001258323.2:c.109G>A, NM_001258323.1:c.109G>A, XM_017018580.3:c.109G>A, XM_017018580.2:c.109G>A, XM_017018580.1:c.109G>A, NM_001258320.2:c.109G>A, NM_001258320.1:c.109G>A, NM_001318390.2:c.-321G>A, NM_001318390.1:c.-321G>A, XM_011520477.2:c.109G>A, XM_011520477.1:c.109G>A, NR_134612.2:n.347G>A, NR_134612.1:n.368G>A, XM_011520478.2:c.109G>A, XM_011520478.1:c.109G>A, NM_001318384.2:c.109G>A, NM_001318384.1:c.109G>A, XM_017018581.2:c.109G>A, XM_017018581.1:c.109G>A, NM_001318388.2:c.9G>A, NM_001318388.1:c.9G>A, NM_001318389.2:c.-40G>A, NM_001318389.1:c.-40G>A, NM_001318387.2:c.109G>A, NM_001318387.1:c.109G>A, XM_005253229.2:c.109G>A, XM_005253229.1:c.109G>A, NM_001258321.1:c.109G>A, NM_001318386.1:c.109G>A, NM_001076787.1:c.109G>A, NM_001318385.1:c.109G>A, NM_001258322.1:c.109G>A, NM_001258324.1:c.109G>A, XM_047427890.1:c.109G>A, XM_047427893.1:c.109G>A, XM_047427891.1:c.109G>A, XM_047427892.1:c.109G>A, XM_047427894.1:c.109G>A, NP_006025.2:p.Gly37Arg, XP_005253284.1:p.Gly37Arg, XP_011518778.1:p.Gly37Arg, NP_001245252.1:p.Gly37Arg, XP_016874069.1:p.Gly37Arg, NP_001245249.1:p.Gly37Arg, XP_011518779.1:p.Gly37Arg, XP_011518780.1:p.Gly37Arg, NP_001305313.1:p.Gly37Arg, XP_016874070.1:p.Gly37Arg, NP_001305316.1:p.Gly37Arg, XP_005253286.1:p.Gly37Arg, NP_001245250.1:p.Gly37Arg, NP_001305315.1:p.Gly37Arg, NP_001305314.1:p.Gly37Arg, NP_001245251.1:p.Gly37Arg, NP_001245253.1:p.Gly37Arg, XP_047283846.1:p.Gly37Arg, XP_047283849.1:p.Gly37Arg, XP_047283847.1:p.Gly37Arg, XP_047283848.1:p.Gly37Arg, XP_047283850.1:p.Gly37Arg
                        12.

                        rs1416192330 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:44935591 (GRCh38)
                          11:44957142 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:44935590:C:T
                          Gene:
                          TP53I11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.44935591C>T, NC_000011.9:g.44957142C>T, NM_006034.5:c.406G>A, NM_006034.4:c.406G>A, NM_006034.3:c.406G>A, XM_005253227.4:c.406G>A, XM_005253227.3:c.406G>A, XM_005253227.2:c.406G>A, XM_005253227.1:c.406G>A, XM_011520476.3:c.406G>A, XM_011520476.2:c.406G>A, XM_011520476.1:c.406G>A, NM_001258323.3:c.406G>A, NM_001258323.2:c.406G>A, NM_001258323.1:c.406G>A, XM_017018580.3:c.406G>A, XM_017018580.2:c.406G>A, XM_017018580.1:c.406G>A, NM_001258320.2:c.406G>A, NM_001258320.1:c.406G>A, NM_001318390.2:c.172G>A, NM_001318390.1:c.172G>A, XM_011520477.2:c.406G>A, XM_011520477.1:c.406G>A, NR_134612.2:n.775G>A, NR_134612.1:n.796G>A, XM_011520478.2:c.406G>A, XM_011520478.1:c.406G>A, NM_001318384.2:c.406G>A, NM_001318384.1:c.406G>A, XM_017018581.2:c.406G>A, XM_017018581.1:c.406G>A, NM_001318388.2:c.247G>A, NM_001318388.1:c.247G>A, NM_001318389.2:c.181G>A, NM_001318389.1:c.181G>A, NM_001318387.2:c.250G>A, NM_001318387.1:c.250G>A, NM_001258321.1:c.406G>A, NM_001318386.1:c.406G>A, NM_001076787.1:c.406G>A, NM_001318385.1:c.406G>A, NM_001258322.1:c.406G>A, NM_001258324.1:c.406G>A, XM_047427890.1:c.406G>A, XM_047427893.1:c.406G>A, XM_047427891.1:c.406G>A, XM_047427892.1:c.406G>A, NP_006025.2:p.Glu136Lys, XP_005253284.1:p.Glu136Lys, XP_011518778.1:p.Glu136Lys, NP_001245252.1:p.Glu136Lys, XP_016874069.1:p.Glu136Lys, NP_001245249.1:p.Glu136Lys, NP_001305319.1:p.Glu58Lys, XP_011518779.1:p.Glu136Lys, XP_011518780.1:p.Glu136Lys, NP_001305313.1:p.Glu136Lys, XP_016874070.1:p.Glu136Lys, NP_001305317.1:p.Glu83Lys, NP_001305318.1:p.Glu61Lys, NP_001305316.1:p.Glu84Lys, NP_001245250.1:p.Glu136Lys, NP_001305315.1:p.Glu136Lys, NP_001305314.1:p.Glu136Lys, NP_001245251.1:p.Glu136Lys, NP_001245253.1:p.Glu136Lys, XP_047283846.1:p.Glu136Lys, XP_047283849.1:p.Glu136Lys, XP_047283847.1:p.Glu136Lys, XP_047283848.1:p.Glu136Lys
                          13.

                          rs1406917297 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:44936880 (GRCh38)
                            11:44958431 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:44936879:T:C
                            Gene:
                            TP53I11 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000031/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.44936880T>C, NC_000011.9:g.44958431T>C, NM_006034.5:c.257A>G, NM_006034.4:c.257A>G, NM_006034.3:c.257A>G, XM_005253227.4:c.257A>G, XM_005253227.3:c.257A>G, XM_005253227.2:c.257A>G, XM_005253227.1:c.257A>G, XM_011520476.3:c.257A>G, XM_011520476.2:c.257A>G, XM_011520476.1:c.257A>G, NM_001258323.3:c.257A>G, NM_001258323.2:c.257A>G, NM_001258323.1:c.257A>G, XM_017018580.3:c.257A>G, XM_017018580.2:c.257A>G, XM_017018580.1:c.257A>G, NM_001258320.2:c.257A>G, NM_001258320.1:c.257A>G, NM_001318390.2:c.23A>G, NM_001318390.1:c.23A>G, XM_011520477.2:c.257A>G, XM_011520477.1:c.257A>G, NR_134612.2:n.495A>G, NR_134612.1:n.516A>G, XM_011520478.2:c.257A>G, XM_011520478.1:c.257A>G, NM_001318384.2:c.257A>G, NM_001318384.1:c.257A>G, XM_017018581.2:c.257A>G, XM_017018581.1:c.257A>G, NM_001318388.2:c.98A>G, NM_001318388.1:c.98A>G, NM_001318389.2:c.109A>G, NM_001318389.1:c.109A>G, XM_005253229.2:c.257A>G, XM_005253229.1:c.257A>G, NM_001258321.1:c.257A>G, NM_001318386.1:c.257A>G, NM_001076787.1:c.257A>G, NM_001318385.1:c.257A>G, NM_001258322.1:c.257A>G, NM_001258324.1:c.257A>G, XM_047427890.1:c.257A>G, XM_047427893.1:c.257A>G, XM_047427891.1:c.257A>G, XM_047427892.1:c.257A>G, XM_047427894.1:c.257A>G, NP_006025.2:p.Gln86Arg, XP_005253284.1:p.Gln86Arg, XP_011518778.1:p.Gln86Arg, NP_001245252.1:p.Gln86Arg, XP_016874069.1:p.Gln86Arg, NP_001245249.1:p.Gln86Arg, NP_001305319.1:p.Gln8Arg, XP_011518779.1:p.Gln86Arg, XP_011518780.1:p.Gln86Arg, NP_001305313.1:p.Gln86Arg, XP_016874070.1:p.Gln86Arg, NP_001305317.1:p.Gln33Arg, NP_001305318.1:p.Ser37Gly, XP_005253286.1:p.Gln86Arg, NP_001245250.1:p.Gln86Arg, NP_001305315.1:p.Gln86Arg, NP_001305314.1:p.Gln86Arg, NP_001245251.1:p.Gln86Arg, NP_001245253.1:p.Gln86Arg, XP_047283846.1:p.Gln86Arg, XP_047283849.1:p.Gln86Arg, XP_047283847.1:p.Gln86Arg, XP_047283848.1:p.Gln86Arg, XP_047283850.1:p.Gln86Arg
                            14.

                            rs1406306785 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:44936815 (GRCh38)
                              11:44958366 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:44936814:C:T
                              Gene:
                              TP53I11 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000011.10:g.44936815C>T, NC_000011.9:g.44958366C>T, NM_006034.5:c.322G>A, NM_006034.4:c.322G>A, NM_006034.3:c.322G>A, XM_005253227.4:c.322G>A, XM_005253227.3:c.322G>A, XM_005253227.2:c.322G>A, XM_005253227.1:c.322G>A, XM_011520476.3:c.322G>A, XM_011520476.2:c.322G>A, XM_011520476.1:c.322G>A, NM_001258323.3:c.322G>A, NM_001258323.2:c.322G>A, NM_001258323.1:c.322G>A, XM_017018580.3:c.322G>A, XM_017018580.2:c.322G>A, XM_017018580.1:c.322G>A, NM_001258320.2:c.322G>A, NM_001258320.1:c.322G>A, NM_001318390.2:c.88G>A, NM_001318390.1:c.88G>A, XM_011520477.2:c.322G>A, XM_011520477.1:c.322G>A, NR_134612.2:n.560G>A, NR_134612.1:n.581G>A, XM_011520478.2:c.322G>A, XM_011520478.1:c.322G>A, NM_001318384.2:c.322G>A, NM_001318384.1:c.322G>A, XM_017018581.2:c.322G>A, XM_017018581.1:c.322G>A, NM_001318388.2:c.163G>A, NM_001318388.1:c.163G>A, XM_005253229.2:c.322G>A, XM_005253229.1:c.322G>A, NM_001258321.1:c.322G>A, NM_001318386.1:c.322G>A, NM_001076787.1:c.322G>A, NM_001318385.1:c.322G>A, NM_001258322.1:c.322G>A, NM_001258324.1:c.322G>A, XM_047427890.1:c.322G>A, XM_047427893.1:c.322G>A, XM_047427891.1:c.322G>A, XM_047427892.1:c.322G>A, XM_047427894.1:c.322G>A, NP_006025.2:p.Gly108Ser, XP_005253284.1:p.Gly108Ser, XP_011518778.1:p.Gly108Ser, NP_001245252.1:p.Gly108Ser, XP_016874069.1:p.Gly108Ser, NP_001245249.1:p.Gly108Ser, NP_001305319.1:p.Gly30Ser, XP_011518779.1:p.Gly108Ser, XP_011518780.1:p.Gly108Ser, NP_001305313.1:p.Gly108Ser, XP_016874070.1:p.Gly108Ser, NP_001305317.1:p.Gly55Ser, XP_005253286.1:p.Gly108Ser, NP_001245250.1:p.Gly108Ser, NP_001305315.1:p.Gly108Ser, NP_001305314.1:p.Gly108Ser, NP_001245251.1:p.Gly108Ser, NP_001245253.1:p.Gly108Ser, XP_047283846.1:p.Gly108Ser, XP_047283849.1:p.Gly108Ser, XP_047283847.1:p.Gly108Ser, XP_047283848.1:p.Gly108Ser, XP_047283850.1:p.Gly108Ser
                              15.

                              rs1392612262 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                11:44938219 (GRCh38)
                                11:44959770 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:44938218:C:
                                Gene:
                                TP53I11 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by cluster
                                HGVS:
                                NC_000011.10:g.44938219del, NC_000011.9:g.44959770del, NM_006034.5:c.117del, NM_006034.4:c.117del, NM_006034.3:c.117del, XM_005253227.4:c.117del, XM_005253227.3:c.117del, XM_005253227.2:c.117del, XM_005253227.1:c.117del, XM_011520476.3:c.117del, XM_011520476.2:c.117del, XM_011520476.1:c.117del, NM_001258323.3:c.117del, NM_001258323.2:c.117del, NM_001258323.1:c.117del, XM_017018580.3:c.117del, XM_017018580.2:c.117del, XM_017018580.1:c.117del, NM_001258320.2:c.117del, NM_001258320.1:c.117del, NM_001318390.2:c.-313del, NM_001318390.1:c.-313del, XM_011520477.2:c.117del, XM_011520477.1:c.117del, NR_134612.2:n.355del, NR_134612.1:n.376del, XM_011520478.2:c.117del, XM_011520478.1:c.117del, NM_001318384.2:c.117del, NM_001318384.1:c.117del, XM_017018581.2:c.117del, XM_017018581.1:c.117del, NM_001318388.2:c.17del, NM_001318388.1:c.17del, NM_001318389.2:c.-32del, NM_001318389.1:c.-32del, NM_001318387.2:c.117del, NM_001318387.1:c.117del, XM_005253229.2:c.117del, XM_005253229.1:c.117del, NM_001258321.1:c.117del, NM_001318386.1:c.117del, NM_001076787.1:c.117del, NM_001318385.1:c.117del, NM_001258322.1:c.117del, NM_001258324.1:c.117del, XM_047427890.1:c.117del, XM_047427893.1:c.117del, XM_047427891.1:c.117del, XM_047427892.1:c.117del, XM_047427894.1:c.117del, NP_006025.2:p.His40fs, XP_005253284.1:p.His40fs, XP_011518778.1:p.His40fs, NP_001245252.1:p.His40fs, XP_016874069.1:p.His40fs, NP_001245249.1:p.His40fs, XP_011518779.1:p.His40fs, XP_011518780.1:p.His40fs, NP_001305313.1:p.His40fs, XP_016874070.1:p.His40fs, NP_001305317.1:p.Cys6fs, NP_001305316.1:p.His40fs, XP_005253286.1:p.His40fs, NP_001245250.1:p.His40fs, NP_001305315.1:p.His40fs, NP_001305314.1:p.His40fs, NP_001245251.1:p.His40fs, NP_001245253.1:p.His40fs, XP_047283846.1:p.His40fs, XP_047283849.1:p.His40fs, XP_047283847.1:p.His40fs, XP_047283848.1:p.His40fs, XP_047283850.1:p.His40fs
                                16.

                                rs1391478094 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  11:44936843 (GRCh38)
                                  11:44958394 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:44936842:G:A,NC_000011.10:44936842:G:T
                                  Gene:
                                  TP53I11 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.44936843G>A, NC_000011.10:g.44936843G>T, NC_000011.9:g.44958394G>A, NC_000011.9:g.44958394G>T, NM_006034.5:c.294C>T, NM_006034.5:c.294C>A, NM_006034.4:c.294C>T, NM_006034.4:c.294C>A, NM_006034.3:c.294C>T, NM_006034.3:c.294C>A, XM_005253227.4:c.294C>T, XM_005253227.4:c.294C>A, XM_005253227.3:c.294C>T, XM_005253227.3:c.294C>A, XM_005253227.2:c.294C>T, XM_005253227.2:c.294C>A, XM_005253227.1:c.294C>T, XM_005253227.1:c.294C>A, XM_011520476.3:c.294C>T, XM_011520476.3:c.294C>A, XM_011520476.2:c.294C>T, XM_011520476.2:c.294C>A, XM_011520476.1:c.294C>T, XM_011520476.1:c.294C>A, NM_001258323.3:c.294C>T, NM_001258323.3:c.294C>A, NM_001258323.2:c.294C>T, NM_001258323.2:c.294C>A, NM_001258323.1:c.294C>T, NM_001258323.1:c.294C>A, XM_017018580.3:c.294C>T, XM_017018580.3:c.294C>A, XM_017018580.2:c.294C>T, XM_017018580.2:c.294C>A, XM_017018580.1:c.294C>T, XM_017018580.1:c.294C>A, NM_001258320.2:c.294C>T, NM_001258320.2:c.294C>A, NM_001258320.1:c.294C>T, NM_001258320.1:c.294C>A, NM_001318390.2:c.60C>T, NM_001318390.2:c.60C>A, NM_001318390.1:c.60C>T, NM_001318390.1:c.60C>A, XM_011520477.2:c.294C>T, XM_011520477.2:c.294C>A, XM_011520477.1:c.294C>T, XM_011520477.1:c.294C>A, NR_134612.2:n.532C>T, NR_134612.2:n.532C>A, NR_134612.1:n.553C>T, NR_134612.1:n.553C>A, XM_011520478.2:c.294C>T, XM_011520478.2:c.294C>A, XM_011520478.1:c.294C>T, XM_011520478.1:c.294C>A, NM_001318384.2:c.294C>T, NM_001318384.2:c.294C>A, NM_001318384.1:c.294C>T, NM_001318384.1:c.294C>A, XM_017018581.2:c.294C>T, XM_017018581.2:c.294C>A, XM_017018581.1:c.294C>T, XM_017018581.1:c.294C>A, NM_001318388.2:c.135C>T, NM_001318388.2:c.135C>A, NM_001318388.1:c.135C>T, NM_001318388.1:c.135C>A, XM_005253229.2:c.294C>T, XM_005253229.2:c.294C>A, XM_005253229.1:c.294C>T, XM_005253229.1:c.294C>A, NM_001258321.1:c.294C>T, NM_001258321.1:c.294C>A, NM_001318386.1:c.294C>T, NM_001318386.1:c.294C>A, NM_001076787.1:c.294C>T, NM_001076787.1:c.294C>A, NM_001318385.1:c.294C>T, NM_001318385.1:c.294C>A, NM_001258322.1:c.294C>T, NM_001258322.1:c.294C>A, NM_001258324.1:c.294C>T, NM_001258324.1:c.294C>A, XM_047427890.1:c.294C>T, XM_047427890.1:c.294C>A, XM_047427893.1:c.294C>T, XM_047427893.1:c.294C>A, XM_047427891.1:c.294C>T, XM_047427891.1:c.294C>A, XM_047427892.1:c.294C>T, XM_047427892.1:c.294C>A, XM_047427894.1:c.294C>T, XM_047427894.1:c.294C>A
                                  17.

                                  rs1386101375 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    11:44936853 (GRCh38)
                                    11:44958404 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:44936852:G:T
                                    Gene:
                                    TP53I11 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000011.10:g.44936853G>T, NC_000011.9:g.44958404G>T, NM_006034.5:c.284C>A, NM_006034.4:c.284C>A, NM_006034.3:c.284C>A, XM_005253227.4:c.284C>A, XM_005253227.3:c.284C>A, XM_005253227.2:c.284C>A, XM_005253227.1:c.284C>A, XM_011520476.3:c.284C>A, XM_011520476.2:c.284C>A, XM_011520476.1:c.284C>A, NM_001258323.3:c.284C>A, NM_001258323.2:c.284C>A, NM_001258323.1:c.284C>A, XM_017018580.3:c.284C>A, XM_017018580.2:c.284C>A, XM_017018580.1:c.284C>A, NM_001258320.2:c.284C>A, NM_001258320.1:c.284C>A, NM_001318390.2:c.50C>A, NM_001318390.1:c.50C>A, XM_011520477.2:c.284C>A, XM_011520477.1:c.284C>A, NR_134612.2:n.522C>A, NR_134612.1:n.543C>A, XM_011520478.2:c.284C>A, XM_011520478.1:c.284C>A, NM_001318384.2:c.284C>A, NM_001318384.1:c.284C>A, XM_017018581.2:c.284C>A, XM_017018581.1:c.284C>A, NM_001318388.2:c.125C>A, NM_001318388.1:c.125C>A, XM_005253229.2:c.284C>A, XM_005253229.1:c.284C>A, NM_001258321.1:c.284C>A, NM_001318386.1:c.284C>A, NM_001076787.1:c.284C>A, NM_001318385.1:c.284C>A, NM_001258322.1:c.284C>A, NM_001258324.1:c.284C>A, XM_047427890.1:c.284C>A, XM_047427893.1:c.284C>A, XM_047427891.1:c.284C>A, XM_047427892.1:c.284C>A, XM_047427894.1:c.284C>A, NP_006025.2:p.Ala95Asp, XP_005253284.1:p.Ala95Asp, XP_011518778.1:p.Ala95Asp, NP_001245252.1:p.Ala95Asp, XP_016874069.1:p.Ala95Asp, NP_001245249.1:p.Ala95Asp, NP_001305319.1:p.Ala17Asp, XP_011518779.1:p.Ala95Asp, XP_011518780.1:p.Ala95Asp, NP_001305313.1:p.Ala95Asp, XP_016874070.1:p.Ala95Asp, NP_001305317.1:p.Ala42Asp, XP_005253286.1:p.Ala95Asp, NP_001245250.1:p.Ala95Asp, NP_001305315.1:p.Ala95Asp, NP_001305314.1:p.Ala95Asp, NP_001245251.1:p.Ala95Asp, NP_001245253.1:p.Ala95Asp, XP_047283846.1:p.Ala95Asp, XP_047283849.1:p.Ala95Asp, XP_047283847.1:p.Ala95Asp, XP_047283848.1:p.Ala95Asp, XP_047283850.1:p.Ala95Asp
                                    18.

                                    rs1384535639 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:44935629 (GRCh38)
                                      11:44957180 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:44935628:G:A
                                      Gene:
                                      TP53I11 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000008/2 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000011.10:g.44935629G>A, NC_000011.9:g.44957180G>A, NM_006034.5:c.368C>T, NM_006034.4:c.368C>T, NM_006034.3:c.368C>T, XM_005253227.4:c.368C>T, XM_005253227.3:c.368C>T, XM_005253227.2:c.368C>T, XM_005253227.1:c.368C>T, XM_011520476.3:c.368C>T, XM_011520476.2:c.368C>T, XM_011520476.1:c.368C>T, NM_001258323.3:c.368C>T, NM_001258323.2:c.368C>T, NM_001258323.1:c.368C>T, XM_017018580.3:c.368C>T, XM_017018580.2:c.368C>T, XM_017018580.1:c.368C>T, NM_001258320.2:c.368C>T, NM_001258320.1:c.368C>T, NM_001318390.2:c.134C>T, NM_001318390.1:c.134C>T, XM_011520477.2:c.368C>T, XM_011520477.1:c.368C>T, NR_134612.2:n.737C>T, NR_134612.1:n.758C>T, XM_011520478.2:c.368C>T, XM_011520478.1:c.368C>T, NM_001318384.2:c.368C>T, NM_001318384.1:c.368C>T, XM_017018581.2:c.368C>T, XM_017018581.1:c.368C>T, NM_001318388.2:c.209C>T, NM_001318388.1:c.209C>T, NM_001318389.2:c.143C>T, NM_001318389.1:c.143C>T, NM_001318387.2:c.212C>T, NM_001318387.1:c.212C>T, NM_001258321.1:c.368C>T, NM_001318386.1:c.368C>T, NM_001076787.1:c.368C>T, NM_001318385.1:c.368C>T, NM_001258322.1:c.368C>T, NM_001258324.1:c.368C>T, XM_047427890.1:c.368C>T, XM_047427893.1:c.368C>T, XM_047427891.1:c.368C>T, XM_047427892.1:c.368C>T, NP_006025.2:p.Thr123Met, XP_005253284.1:p.Thr123Met, XP_011518778.1:p.Thr123Met, NP_001245252.1:p.Thr123Met, XP_016874069.1:p.Thr123Met, NP_001245249.1:p.Thr123Met, NP_001305319.1:p.Thr45Met, XP_011518779.1:p.Thr123Met, XP_011518780.1:p.Thr123Met, NP_001305313.1:p.Thr123Met, XP_016874070.1:p.Thr123Met, NP_001305317.1:p.Thr70Met, NP_001305318.1:p.Thr48Met, NP_001305316.1:p.Thr71Met, NP_001245250.1:p.Thr123Met, NP_001305315.1:p.Thr123Met, NP_001305314.1:p.Thr123Met, NP_001245251.1:p.Thr123Met, NP_001245253.1:p.Thr123Met, XP_047283846.1:p.Thr123Met, XP_047283849.1:p.Thr123Met, XP_047283847.1:p.Thr123Met, XP_047283848.1:p.Thr123Met
                                      19.

                                      rs1374174517 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:44934950 (GRCh38)
                                        11:44956501 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:44934949:G:A
                                        Gene:
                                        TP53I11 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.44934950G>A, NC_000011.9:g.44956501G>A, NM_006034.5:c.504C>T, NM_006034.4:c.504C>T, NM_006034.3:c.504C>T, XM_005253227.4:c.504C>T, XM_005253227.3:c.504C>T, XM_005253227.2:c.504C>T, XM_005253227.1:c.504C>T, XM_011520476.3:c.504C>T, XM_011520476.2:c.504C>T, XM_011520476.1:c.504C>T, NM_001258323.3:c.504C>T, NM_001258323.2:c.504C>T, NM_001258323.1:c.504C>T, XM_017018580.3:c.504C>T, XM_017018580.2:c.504C>T, XM_017018580.1:c.504C>T, NM_001258320.2:c.504C>T, NM_001258320.1:c.504C>T, NM_001318390.2:c.270C>T, NM_001318390.1:c.270C>T, XM_011520477.2:c.504C>T, XM_011520477.1:c.504C>T, NR_134612.2:n.873C>T, NR_134612.1:n.894C>T, XM_011520478.2:c.504C>T, XM_011520478.1:c.504C>T, NM_001318384.2:c.504C>T, NM_001318384.1:c.504C>T, XM_017018581.2:c.504C>T, XM_017018581.1:c.504C>T, NM_001318388.2:c.345C>T, NM_001318388.1:c.345C>T, NM_001318389.2:c.279C>T, NM_001318389.1:c.279C>T, NM_001318387.2:c.348C>T, NM_001318387.1:c.348C>T, NM_001258321.1:c.504C>T, NM_001318386.1:c.504C>T, NM_001076787.1:c.504C>T, NM_001318385.1:c.504C>T, NM_001258322.1:c.504C>T, NM_001258324.1:c.504C>T, XM_047427890.1:c.504C>T, XM_047427893.1:c.504C>T, XM_047427891.1:c.504C>T, XM_047427892.1:c.504C>T
                                        20.

                                        rs1366731239 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:44937331 (GRCh38)
                                          11:44958882 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:44937330:A:G
                                          Gene:
                                          TP53I11 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000009/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.44937331A>G, NC_000011.9:g.44958882A>G, NM_006034.5:c.210T>C, NM_006034.4:c.210T>C, NM_006034.3:c.210T>C, XM_005253227.4:c.210T>C, XM_005253227.3:c.210T>C, XM_005253227.2:c.210T>C, XM_005253227.1:c.210T>C, XM_011520476.3:c.210T>C, XM_011520476.2:c.210T>C, XM_011520476.1:c.210T>C, NM_001258323.3:c.210T>C, NM_001258323.2:c.210T>C, NM_001258323.1:c.210T>C, XM_017018580.3:c.210T>C, XM_017018580.2:c.210T>C, XM_017018580.1:c.210T>C, NM_001258320.2:c.210T>C, NM_001258320.1:c.210T>C, NM_001318390.2:c.-220T>C, NM_001318390.1:c.-220T>C, XM_011520477.2:c.210T>C, XM_011520477.1:c.210T>C, NR_134612.2:n.448T>C, NR_134612.1:n.469T>C, XM_011520478.2:c.210T>C, XM_011520478.1:c.210T>C, NM_001318384.2:c.210T>C, NM_001318384.1:c.210T>C, XM_017018581.2:c.210T>C, XM_017018581.1:c.210T>C, NM_001318388.2:c.51T>C, NM_001318388.1:c.51T>C, NM_001318389.2:c.62T>C, NM_001318389.1:c.62T>C, NM_001318387.2:c.151T>C, NM_001318387.1:c.151T>C, XM_005253229.2:c.210T>C, XM_005253229.1:c.210T>C, NM_001258321.1:c.210T>C, NM_001318386.1:c.210T>C, NM_001076787.1:c.210T>C, NM_001318385.1:c.210T>C, NM_001258322.1:c.210T>C, NM_001258324.1:c.210T>C, XM_047427890.1:c.210T>C, XM_047427893.1:c.210T>C, XM_047427891.1:c.210T>C, XM_047427892.1:c.210T>C, XM_047427894.1:c.210T>C, NP_001305318.1:p.Leu21Pro, NP_001305316.1:p.Cys51Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...