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Items: 1 to 20 of 296

1.

rs1487419742 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:35897096 (GRCh38)
    19:36387998 (GRCh37)
    Canonical SPDI:
    NC_000019.10:35897095:G:A
    Gene:
    NFKBID (Varview)
    Functional Consequence:
    missense_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000005/1 (GnomAD_exomes)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.
    3.

    rs1486418058 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      19:35896039 (GRCh38)
      19:36386941 (GRCh37)
      Canonical SPDI:
      NC_000019.10:35896038:G:A,NC_000019.10:35896038:G:C,NC_000019.10:35896038:G:T
      Gene:
      NFKBID (Varview)
      Functional Consequence:
      stop_gained,synonymous_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      T=0.000312/2 (1000Genomes)
      HGVS:
      NC_000019.10:g.35896039G>A, NC_000019.10:g.35896039G>C, NC_000019.10:g.35896039G>T, NC_000019.9:g.36386941G>A, NC_000019.9:g.36386941G>C, NC_000019.9:g.36386941G>T, XM_005259340.4:c.592C>T, XM_005259340.4:c.592C>G, XM_005259340.4:c.592C>A, XM_005259340.3:c.592C>T, XM_005259340.3:c.592C>G, XM_005259340.3:c.592C>A, XM_005259340.2:c.592C>T, XM_005259340.2:c.592C>G, XM_005259340.2:c.592C>A, XM_005259340.1:c.592C>T, XM_005259340.1:c.592C>G, XM_005259340.1:c.592C>A, NM_032721.3:c.1003C>T, NM_032721.3:c.1003C>G, NM_032721.3:c.1003C>A, NM_032721.2:c.1003C>T, NM_032721.2:c.1003C>G, NM_032721.2:c.1003C>A, NM_032721.1:c.-62C>T, NM_032721.1:c.-62C>G, NM_032721.1:c.-62C>A, NM_139239.3:c.547C>T, NM_139239.3:c.547C>G, NM_139239.3:c.547C>A, NM_139239.2:c.547C>T, NM_139239.2:c.547C>G, NM_139239.2:c.547C>A, NM_139239.1:c.547C>T, NM_139239.1:c.547C>G, NM_139239.1:c.547C>A, XM_011527420.3:c.592C>T, XM_011527420.3:c.592C>G, XM_011527420.3:c.592C>A, XM_011527420.2:c.592C>T, XM_011527420.2:c.592C>G, XM_011527420.2:c.592C>A, XM_011527420.1:c.592C>T, XM_011527420.1:c.592C>G, XM_011527420.1:c.592C>A, XM_017027397.3:c.448C>T, XM_017027397.3:c.448C>G, XM_017027397.3:c.448C>A, XM_017027397.2:c.448C>T, XM_017027397.2:c.448C>G, XM_017027397.2:c.448C>A, XM_017027397.1:c.448C>T, XM_017027397.1:c.448C>G, XM_017027397.1:c.448C>A, XM_017027390.2:c.592C>T, XM_017027390.2:c.592C>G, XM_017027390.2:c.592C>A, XM_017027390.1:c.592C>T, XM_017027390.1:c.592C>G, XM_017027390.1:c.592C>A, XM_017027391.2:c.547C>T, XM_017027391.2:c.547C>G, XM_017027391.2:c.547C>A, XM_017027391.1:c.547C>T, XM_017027391.1:c.547C>G, XM_017027391.1:c.547C>A, NM_001321831.2:c.592C>T, NM_001321831.2:c.592C>G, NM_001321831.2:c.592C>A, NM_001321831.1:c.592C>T, NM_001321831.1:c.592C>G, NM_001321831.1:c.592C>A, NM_001365706.2:c.547C>T, NM_001365706.2:c.547C>G, NM_001365706.2:c.547C>A, NM_001365706.1:c.547C>T, NM_001365706.1:c.547C>G, NM_001365706.1:c.547C>A, XM_047439557.1:c.1048C>T, XM_047439557.1:c.1048C>G, XM_047439557.1:c.1048C>A, XM_047439558.1:c.1030C>T, XM_047439558.1:c.1030C>G, XM_047439558.1:c.1030C>A, XM_047439559.1:c.985C>T, XM_047439559.1:c.985C>G, XM_047439559.1:c.985C>A, XM_047439560.1:c.547C>T, XM_047439560.1:c.547C>G, XM_047439560.1:c.547C>A, NM_001365705.1:c.547C>T, NM_001365705.1:c.547C>G, NM_001365705.1:c.547C>A, XM_047439561.1:c.517C>T, XM_047439561.1:c.517C>G, XM_047439561.1:c.517C>A, XP_005259397.1:p.Arg198Ter, XP_005259397.1:p.Arg198Gly, NP_116110.2:p.Arg335Ter, NP_116110.2:p.Arg335Gly, NP_640332.1:p.Arg183Ter, NP_640332.1:p.Arg183Gly, XP_011525722.1:p.Arg198Ter, XP_011525722.1:p.Arg198Gly, XP_016882886.1:p.Arg150Ter, XP_016882886.1:p.Arg150Gly, XP_016882879.1:p.Arg198Ter, XP_016882879.1:p.Arg198Gly, XP_016882880.1:p.Arg183Ter, XP_016882880.1:p.Arg183Gly, NP_001308760.1:p.Arg198Ter, NP_001308760.1:p.Arg198Gly, NP_001352635.1:p.Arg183Ter, NP_001352635.1:p.Arg183Gly, XP_047295513.1:p.Arg350Ter, XP_047295513.1:p.Arg350Gly, XP_047295514.1:p.Arg344Ter, XP_047295514.1:p.Arg344Gly, XP_047295515.1:p.Arg329Ter, XP_047295515.1:p.Arg329Gly, XP_047295516.1:p.Arg183Ter, XP_047295516.1:p.Arg183Gly, NP_001352634.1:p.Arg183Ter, NP_001352634.1:p.Arg183Gly, XP_047295517.1:p.Arg173Ter, XP_047295517.1:p.Arg173Gly
      4.

      rs1486272313 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        19:35896731 (GRCh38)
        19:36387633 (GRCh37)
        Canonical SPDI:
        NC_000019.10:35896730:C:A
        Gene:
        NFKBID (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)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000019.10:g.35896731C>A, NC_000019.9:g.36387633C>A, XM_005259340.4:c.298G>T, XM_005259340.3:c.298G>T, XM_005259340.2:c.298G>T, XM_005259340.1:c.298G>T, NM_032721.3:c.709G>T, NM_032721.2:c.709G>T, NM_139239.3:c.253G>T, NM_139239.2:c.253G>T, NM_139239.1:c.253G>T, XM_011527420.3:c.298G>T, XM_011527420.2:c.298G>T, XM_011527420.1:c.298G>T, XM_017027397.3:c.154G>T, XM_017027397.2:c.154G>T, XM_017027397.1:c.154G>T, XM_017027390.2:c.298G>T, XM_017027390.1:c.298G>T, XM_017027391.2:c.253G>T, XM_017027391.1:c.253G>T, NM_001321831.2:c.298G>T, NM_001321831.1:c.298G>T, NM_001365706.2:c.253G>T, NM_001365706.1:c.253G>T, XM_047439557.1:c.754G>T, XM_047439558.1:c.736G>T, XM_047439559.1:c.691G>T, XM_047439560.1:c.253G>T, NM_001365705.1:c.253G>T, XM_047439561.1:c.223G>T, XP_005259397.1:p.Gly100Cys, NP_116110.2:p.Gly237Cys, NP_640332.1:p.Gly85Cys, XP_011525722.1:p.Gly100Cys, XP_016882886.1:p.Gly52Cys, XP_016882879.1:p.Gly100Cys, XP_016882880.1:p.Gly85Cys, NP_001308760.1:p.Gly100Cys, NP_001352635.1:p.Gly85Cys, XP_047295513.1:p.Gly252Cys, XP_047295514.1:p.Gly246Cys, XP_047295515.1:p.Gly231Cys, XP_047295516.1:p.Gly85Cys, NP_001352634.1:p.Gly85Cys, XP_047295517.1:p.Gly75Cys
        5.

        rs1484464284 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:35889924 (GRCh38)
          19:36380826 (GRCh37)
          Canonical SPDI:
          NC_000019.10:35889923:A:G
          Gene:
          NFKBID (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000028/1 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000029/4 (GnomAD)
          HGVS:
          NC_000019.10:g.35889924A>G, NC_000019.9:g.36380826A>G, XM_005259340.4:c.899T>C, XM_005259340.3:c.899T>C, XM_005259340.2:c.899T>C, XM_005259340.1:c.899T>C, NM_032721.3:c.1310T>C, NM_032721.2:c.1310T>C, NM_032721.1:c.365T>C, NM_139239.3:c.854T>C, NM_139239.2:c.854T>C, NM_139239.1:c.854T>C, XM_011527420.3:c.899T>C, XM_011527420.2:c.899T>C, XM_011527420.1:c.899T>C, XM_017027397.3:c.755T>C, XM_017027397.2:c.755T>C, XM_017027397.1:c.755T>C, XM_017027390.2:c.899T>C, XM_017027390.1:c.899T>C, XM_017027391.2:c.854T>C, XM_017027391.1:c.854T>C, NM_001321831.2:c.899T>C, NM_001321831.1:c.899T>C, XM_047439557.1:c.1355T>C, XM_047439558.1:c.1337T>C, XM_047439559.1:c.1292T>C, XM_047439560.1:c.854T>C, NM_001365705.1:c.854T>C, XM_047439561.1:c.824T>C, XP_005259397.1:p.Val300Ala, NP_116110.2:p.Val437Ala, NP_640332.1:p.Val285Ala, XP_011525722.1:p.Val300Ala, XP_016882886.1:p.Val252Ala, XP_016882879.1:p.Val300Ala, XP_016882880.1:p.Val285Ala, NP_001308760.1:p.Val300Ala, XP_047295513.1:p.Val452Ala, XP_047295514.1:p.Val446Ala, XP_047295515.1:p.Val431Ala, XP_047295516.1:p.Val285Ala, NP_001352634.1:p.Val285Ala, XP_047295517.1:p.Val275Ala
          6.

          rs1482013135 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            19:35889959 (GRCh38)
            19:36380861 (GRCh37)
            Canonical SPDI:
            NC_000019.10:35889958:G:A,NC_000019.10:35889958:G:T
            Gene:
            NFKBID (Varview)
            Functional Consequence:
            synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000019.10:g.35889959G>A, NC_000019.10:g.35889959G>T, NC_000019.9:g.36380861G>A, NC_000019.9:g.36380861G>T, XM_005259340.4:c.864C>T, XM_005259340.4:c.864C>A, XM_005259340.3:c.864C>T, XM_005259340.3:c.864C>A, XM_005259340.2:c.864C>T, XM_005259340.2:c.864C>A, XM_005259340.1:c.864C>T, XM_005259340.1:c.864C>A, NM_032721.3:c.1275C>T, NM_032721.3:c.1275C>A, NM_032721.2:c.1275C>T, NM_032721.2:c.1275C>A, NM_032721.1:c.330C>T, NM_032721.1:c.330C>A, NM_139239.3:c.819C>T, NM_139239.3:c.819C>A, NM_139239.2:c.819C>T, NM_139239.2:c.819C>A, NM_139239.1:c.819C>T, NM_139239.1:c.819C>A, XM_011527420.3:c.864C>T, XM_011527420.3:c.864C>A, XM_011527420.2:c.864C>T, XM_011527420.2:c.864C>A, XM_011527420.1:c.864C>T, XM_011527420.1:c.864C>A, XM_017027397.3:c.720C>T, XM_017027397.3:c.720C>A, XM_017027397.2:c.720C>T, XM_017027397.2:c.720C>A, XM_017027397.1:c.720C>T, XM_017027397.1:c.720C>A, XM_017027390.2:c.864C>T, XM_017027390.2:c.864C>A, XM_017027390.1:c.864C>T, XM_017027390.1:c.864C>A, XM_017027391.2:c.819C>T, XM_017027391.2:c.819C>A, XM_017027391.1:c.819C>T, XM_017027391.1:c.819C>A, NM_001321831.2:c.864C>T, NM_001321831.2:c.864C>A, NM_001321831.1:c.864C>T, NM_001321831.1:c.864C>A, XM_047439557.1:c.1320C>T, XM_047439557.1:c.1320C>A, XM_047439558.1:c.1302C>T, XM_047439558.1:c.1302C>A, XM_047439559.1:c.1257C>T, XM_047439559.1:c.1257C>A, XM_047439560.1:c.819C>T, XM_047439560.1:c.819C>A, NM_001365705.1:c.819C>T, NM_001365705.1:c.819C>A, XM_047439561.1:c.789C>T, XM_047439561.1:c.789C>A, XP_005259397.1:p.Asp288Glu, NP_116110.2:p.Asp425Glu, NP_640332.1:p.Asp273Glu, XP_011525722.1:p.Asp288Glu, XP_016882886.1:p.Asp240Glu, XP_016882879.1:p.Asp288Glu, XP_016882880.1:p.Asp273Glu, NP_001308760.1:p.Asp288Glu, XP_047295513.1:p.Asp440Glu, XP_047295514.1:p.Asp434Glu, XP_047295515.1:p.Asp419Glu, XP_047295516.1:p.Asp273Glu, NP_001352634.1:p.Asp273Glu, XP_047295517.1:p.Asp263Glu
            7.

            rs1477448748 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:35889963 (GRCh38)
              19:36380865 (GRCh37)
              Canonical SPDI:
              NC_000019.10:35889962:G:A
              Gene:
              NFKBID (Varview)
              Functional Consequence:
              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=0.000014/2 (GnomAD)
              HGVS:
              NC_000019.10:g.35889963G>A, NC_000019.9:g.36380865G>A, XM_005259340.4:c.860C>T, XM_005259340.3:c.860C>T, XM_005259340.2:c.860C>T, XM_005259340.1:c.860C>T, NM_032721.3:c.1271C>T, NM_032721.2:c.1271C>T, NM_032721.1:c.326C>T, NM_139239.3:c.815C>T, NM_139239.2:c.815C>T, NM_139239.1:c.815C>T, XM_011527420.3:c.860C>T, XM_011527420.2:c.860C>T, XM_011527420.1:c.860C>T, XM_017027397.3:c.716C>T, XM_017027397.2:c.716C>T, XM_017027397.1:c.716C>T, XM_017027390.2:c.860C>T, XM_017027390.1:c.860C>T, XM_017027391.2:c.815C>T, XM_017027391.1:c.815C>T, NM_001321831.2:c.860C>T, NM_001321831.1:c.860C>T, XM_047439557.1:c.1316C>T, XM_047439558.1:c.1298C>T, XM_047439559.1:c.1253C>T, XM_047439560.1:c.815C>T, NM_001365705.1:c.815C>T, XM_047439561.1:c.785C>T, XP_005259397.1:p.Ala287Val, NP_116110.2:p.Ala424Val, NP_640332.1:p.Ala272Val, XP_011525722.1:p.Ala287Val, XP_016882886.1:p.Ala239Val, XP_016882879.1:p.Ala287Val, XP_016882880.1:p.Ala272Val, NP_001308760.1:p.Ala287Val, XP_047295513.1:p.Ala439Val, XP_047295514.1:p.Ala433Val, XP_047295515.1:p.Ala418Val, XP_047295516.1:p.Ala272Val, NP_001352634.1:p.Ala272Val, XP_047295517.1:p.Ala262Val
              9.

              rs1468289931 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                19:35889901 (GRCh38)
                19:36380803 (GRCh37)
                Canonical SPDI:
                NC_000019.10:35889900:C:A,NC_000019.10:35889900:C:T
                Gene:
                NFKBID (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000019.10:g.35889901C>A, NC_000019.10:g.35889901C>T, NC_000019.9:g.36380803C>A, NC_000019.9:g.36380803C>T, XM_005259340.4:c.922G>T, XM_005259340.4:c.922G>A, XM_005259340.3:c.922G>T, XM_005259340.3:c.922G>A, XM_005259340.2:c.922G>T, XM_005259340.2:c.922G>A, XM_005259340.1:c.922G>T, XM_005259340.1:c.922G>A, NM_032721.3:c.1333G>T, NM_032721.3:c.1333G>A, NM_032721.2:c.1333G>T, NM_032721.2:c.1333G>A, NM_032721.1:c.388G>T, NM_032721.1:c.388G>A, NM_139239.3:c.877G>T, NM_139239.3:c.877G>A, NM_139239.2:c.877G>T, NM_139239.2:c.877G>A, NM_139239.1:c.877G>T, NM_139239.1:c.877G>A, XM_011527420.3:c.922G>T, XM_011527420.3:c.922G>A, XM_011527420.2:c.922G>T, XM_011527420.2:c.922G>A, XM_011527420.1:c.922G>T, XM_011527420.1:c.922G>A, XM_017027397.3:c.778G>T, XM_017027397.3:c.778G>A, XM_017027397.2:c.778G>T, XM_017027397.2:c.778G>A, XM_017027397.1:c.778G>T, XM_017027397.1:c.778G>A, XM_017027390.2:c.922G>T, XM_017027390.2:c.922G>A, XM_017027390.1:c.922G>T, XM_017027390.1:c.922G>A, XM_017027391.2:c.877G>T, XM_017027391.2:c.877G>A, XM_017027391.1:c.877G>T, XM_017027391.1:c.877G>A, NM_001321831.2:c.922G>T, NM_001321831.2:c.922G>A, NM_001321831.1:c.922G>T, NM_001321831.1:c.922G>A, XM_047439557.1:c.1378G>T, XM_047439557.1:c.1378G>A, XM_047439558.1:c.1360G>T, XM_047439558.1:c.1360G>A, XM_047439559.1:c.1315G>T, XM_047439559.1:c.1315G>A, XM_047439560.1:c.877G>T, XM_047439560.1:c.877G>A, NM_001365705.1:c.877G>T, NM_001365705.1:c.877G>A, XM_047439561.1:c.847G>T, XM_047439561.1:c.847G>A, XP_005259397.1:p.Gly308Cys, XP_005259397.1:p.Gly308Ser, NP_116110.2:p.Gly445Cys, NP_116110.2:p.Gly445Ser, NP_640332.1:p.Gly293Cys, NP_640332.1:p.Gly293Ser, XP_011525722.1:p.Gly308Cys, XP_011525722.1:p.Gly308Ser, XP_016882886.1:p.Gly260Cys, XP_016882886.1:p.Gly260Ser, XP_016882879.1:p.Gly308Cys, XP_016882879.1:p.Gly308Ser, XP_016882880.1:p.Gly293Cys, XP_016882880.1:p.Gly293Ser, NP_001308760.1:p.Gly308Cys, NP_001308760.1:p.Gly308Ser, XP_047295513.1:p.Gly460Cys, XP_047295513.1:p.Gly460Ser, XP_047295514.1:p.Gly454Cys, XP_047295514.1:p.Gly454Ser, XP_047295515.1:p.Gly439Cys, XP_047295515.1:p.Gly439Ser, XP_047295516.1:p.Gly293Cys, XP_047295516.1:p.Gly293Ser, NP_001352634.1:p.Gly293Cys, NP_001352634.1:p.Gly293Ser, XP_047295517.1:p.Gly283Cys, XP_047295517.1:p.Gly283Ser
                11.

                rs1467183972 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:35888587 (GRCh38)
                  19:36379489 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:35888586:C:T
                  Gene:
                  NFKBID (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000019.10:g.35888587C>T, NC_000019.9:g.36379489C>T, XM_005259340.4:c.959G>A, XM_005259340.3:c.959G>A, XM_005259340.2:c.959G>A, XM_005259340.1:c.959G>A, NM_032721.3:c.1370G>A, NM_032721.2:c.1370G>A, NM_032721.1:c.425G>A, NM_139239.3:c.914G>A, NM_139239.2:c.914G>A, NM_139239.1:c.914G>A, XM_011527420.3:c.959G>A, XM_011527420.2:c.959G>A, XM_011527420.1:c.959G>A, XM_017027397.3:c.815G>A, XM_017027397.2:c.815G>A, XM_017027397.1:c.815G>A, XM_017027390.2:c.959G>A, XM_017027390.1:c.959G>A, XM_017027391.2:c.914G>A, XM_017027391.1:c.914G>A, NM_001321831.2:c.959G>A, NM_001321831.1:c.959G>A, XM_047439557.1:c.1415G>A, XM_047439558.1:c.1397G>A, XM_047439559.1:c.1352G>A, XM_047439560.1:c.914G>A, NM_001365705.1:c.914G>A, XM_047439561.1:c.884G>A, XP_005259397.1:p.Arg320His, NP_116110.2:p.Arg457His, NP_640332.1:p.Arg305His, XP_011525722.1:p.Arg320His, XP_016882886.1:p.Arg272His, XP_016882879.1:p.Arg320His, XP_016882880.1:p.Arg305His, NP_001308760.1:p.Arg320His, XP_047295513.1:p.Arg472His, XP_047295514.1:p.Arg466His, XP_047295515.1:p.Arg451His, XP_047295516.1:p.Arg305His, NP_001352634.1:p.Arg305His, XP_047295517.1:p.Arg295His
                  12.

                  rs1465378629 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:35895999 (GRCh38)
                    19:36386901 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:35895998:C:T
                    Gene:
                    NFKBID (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000019.10:g.35895999C>T, NC_000019.9:g.36386901C>T, XM_005259340.4:c.632G>A, XM_005259340.3:c.632G>A, XM_005259340.2:c.632G>A, XM_005259340.1:c.632G>A, NM_032721.3:c.1043G>A, NM_032721.2:c.1043G>A, NM_032721.1:c.-22G>A, NM_139239.3:c.587G>A, NM_139239.2:c.587G>A, NM_139239.1:c.587G>A, XM_011527420.3:c.632G>A, XM_011527420.2:c.632G>A, XM_011527420.1:c.632G>A, XM_017027397.3:c.488G>A, XM_017027397.2:c.488G>A, XM_017027397.1:c.488G>A, XM_017027390.2:c.632G>A, XM_017027390.1:c.632G>A, XM_017027391.2:c.587G>A, XM_017027391.1:c.587G>A, NM_001321831.2:c.632G>A, NM_001321831.1:c.632G>A, NM_001365706.2:c.587G>A, NM_001365706.1:c.587G>A, XM_047439557.1:c.1088G>A, XM_047439558.1:c.1070G>A, XM_047439559.1:c.1025G>A, XM_047439560.1:c.587G>A, NM_001365705.1:c.587G>A, XM_047439561.1:c.557G>A, XP_005259397.1:p.Gly211Asp, NP_116110.2:p.Gly348Asp, NP_640332.1:p.Gly196Asp, XP_011525722.1:p.Gly211Asp, XP_016882886.1:p.Gly163Asp, XP_016882879.1:p.Gly211Asp, XP_016882880.1:p.Gly196Asp, NP_001308760.1:p.Gly211Asp, NP_001352635.1:p.Gly196Asp, XP_047295513.1:p.Gly363Asp, XP_047295514.1:p.Gly357Asp, XP_047295515.1:p.Gly342Asp, XP_047295516.1:p.Gly196Asp, NP_001352634.1:p.Gly196Asp, XP_047295517.1:p.Gly186Asp
                    15.

                    rs1451482562 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      19:35890458 (GRCh38)
                      19:36381360 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:35890457:C:G
                      Gene:
                      NFKBID (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_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_000019.10:g.35890458C>G, NC_000019.9:g.36381360C>G, XM_005259340.4:c.684G>C, XM_005259340.3:c.684G>C, XM_005259340.2:c.684G>C, XM_005259340.1:c.684G>C, NM_032721.3:c.1095G>C, NM_032721.2:c.1095G>C, NM_032721.1:c.150G>C, NM_139239.3:c.639G>C, NM_139239.2:c.639G>C, NM_139239.1:c.639G>C, XM_011527420.3:c.684G>C, XM_011527420.2:c.684G>C, XM_011527420.1:c.684G>C, XM_017027397.3:c.540G>C, XM_017027397.2:c.540G>C, XM_017027397.1:c.540G>C, XM_017027390.2:c.684G>C, XM_017027390.1:c.684G>C, XM_017027391.2:c.639G>C, XM_017027391.1:c.639G>C, NM_001321831.2:c.684G>C, NM_001321831.1:c.684G>C, XM_047439557.1:c.1140G>C, XM_047439558.1:c.1122G>C, XM_047439559.1:c.1077G>C, XM_047439560.1:c.639G>C, NM_001365705.1:c.639G>C, XM_047439561.1:c.609G>C, XP_005259397.1:p.Leu228Phe, NP_116110.2:p.Leu365Phe, NP_640332.1:p.Leu213Phe, XP_011525722.1:p.Leu228Phe, XP_016882886.1:p.Leu180Phe, XP_016882879.1:p.Leu228Phe, XP_016882880.1:p.Leu213Phe, NP_001308760.1:p.Leu228Phe, XP_047295513.1:p.Leu380Phe, XP_047295514.1:p.Leu374Phe, XP_047295515.1:p.Leu359Phe, XP_047295516.1:p.Leu213Phe, NP_001352634.1:p.Leu213Phe, XP_047295517.1:p.Leu203Phe
                      18.

                      rs1449481430 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:35896830 (GRCh38)
                        19:36387732 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:35896829:G:T
                        Gene:
                        NFKBID (Varview)
                        Functional Consequence:
                        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_000019.10:g.35896830G>T, NC_000019.9:g.36387732G>T, XM_005259340.4:c.199C>A, XM_005259340.3:c.199C>A, XM_005259340.2:c.199C>A, XM_005259340.1:c.199C>A, NM_032721.3:c.610C>A, NM_032721.2:c.610C>A, NM_139239.3:c.154C>A, NM_139239.2:c.154C>A, NM_139239.1:c.154C>A, XM_011527420.3:c.199C>A, XM_011527420.2:c.199C>A, XM_011527420.1:c.199C>A, XM_017027397.3:c.55C>A, XM_017027397.2:c.55C>A, XM_017027397.1:c.55C>A, XM_017027390.2:c.199C>A, XM_017027390.1:c.199C>A, XM_017027391.2:c.154C>A, XM_017027391.1:c.154C>A, NM_001321831.2:c.199C>A, NM_001321831.1:c.199C>A, NM_001365706.2:c.154C>A, NM_001365706.1:c.154C>A, XM_047439557.1:c.655C>A, XM_047439558.1:c.637C>A, XM_047439559.1:c.592C>A, XM_047439560.1:c.154C>A, NM_001365705.1:c.154C>A, XM_047439561.1:c.124C>A, XP_005259397.1:p.Leu67Ile, NP_116110.2:p.Leu204Ile, NP_640332.1:p.Leu52Ile, XP_011525722.1:p.Leu67Ile, XP_016882886.1:p.Leu19Ile, XP_016882879.1:p.Leu67Ile, XP_016882880.1:p.Leu52Ile, NP_001308760.1:p.Leu67Ile, NP_001352635.1:p.Leu52Ile, XP_047295513.1:p.Leu219Ile, XP_047295514.1:p.Leu213Ile, XP_047295515.1:p.Leu198Ile, XP_047295516.1:p.Leu52Ile, NP_001352634.1:p.Leu52Ile, XP_047295517.1:p.Leu42Ile
                        20.

                        rs1440823199 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:35896119 (GRCh38)
                          19:36387021 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:35896118:G:A
                          Gene:
                          NFKBID (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000019.10:g.35896119G>A, NC_000019.9:g.36387021G>A, XM_005259340.4:c.512C>T, XM_005259340.3:c.512C>T, XM_005259340.2:c.512C>T, XM_005259340.1:c.512C>T, NM_032721.3:c.923C>T, NM_032721.2:c.923C>T, NM_032721.1:c.-142C>T, NM_139239.3:c.467C>T, NM_139239.2:c.467C>T, NM_139239.1:c.467C>T, XM_011527420.3:c.512C>T, XM_011527420.2:c.512C>T, XM_011527420.1:c.512C>T, XM_017027397.3:c.368C>T, XM_017027397.2:c.368C>T, XM_017027397.1:c.368C>T, XM_017027390.2:c.512C>T, XM_017027390.1:c.512C>T, XM_017027391.2:c.467C>T, XM_017027391.1:c.467C>T, NM_001321831.2:c.512C>T, NM_001321831.1:c.512C>T, NM_001365706.2:c.467C>T, NM_001365706.1:c.467C>T, XM_047439557.1:c.968C>T, XM_047439558.1:c.950C>T, XM_047439559.1:c.905C>T, XM_047439560.1:c.467C>T, NM_001365705.1:c.467C>T, XM_047439561.1:c.437C>T, XP_005259397.1:p.Pro171Leu, NP_116110.2:p.Pro308Leu, NP_640332.1:p.Pro156Leu, XP_011525722.1:p.Pro171Leu, XP_016882886.1:p.Pro123Leu, XP_016882879.1:p.Pro171Leu, XP_016882880.1:p.Pro156Leu, NP_001308760.1:p.Pro171Leu, NP_001352635.1:p.Pro156Leu, XP_047295513.1:p.Pro323Leu, XP_047295514.1:p.Pro317Leu, XP_047295515.1:p.Pro302Leu, XP_047295516.1:p.Pro156Leu, NP_001352634.1:p.Pro156Leu, XP_047295517.1:p.Pro146Leu

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