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Items: 1 to 20 of 821

1.

rs1489435161 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:46309301 (GRCh38)
    19:46812558 (GRCh37)
    Canonical SPDI:
    NC_000019.10:46309300:C:T
    Gene:
    HIF3A (Varview)
    Functional Consequence:
    stop_gained,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=0.000014/2 (GnomAD)
    T=0.000546/1 (Korea1K)
    HGVS:
    NC_000019.10:g.46309301C>T, NC_000019.9:g.46812558C>T, NG_029679.1:g.17254C>T, NM_152794.4:c.706C>T, NM_152794.3:c.706C>T, NM_152795.4:c.712C>T, NM_152795.3:c.712C>T, NM_022462.4:c.505C>T, NM_152796.2:c.505C>T, XM_005259152.5:c.844C>T, XM_005259152.4:c.844C>T, XM_005259152.3:c.844C>T, XM_005259152.2:c.844C>T, XM_005259152.1:c.844C>T, XM_005259156.5:c.844C>T, XM_005259156.4:c.844C>T, XM_005259156.3:c.844C>T, XM_005259156.2:c.844C>T, XM_005259156.1:c.844C>T, XM_005259153.4:c.559C>T, XM_005259153.3:c.505C>T, XM_005259153.2:c.505C>T, XM_005259153.1:c.559C>T, XM_017027132.2:c.844C>T, XM_017027132.1:c.844C>T, XM_017027135.2:c.706C>T, XM_017027135.1:c.706C>T, XM_017027134.2:c.712C>T, XM_017027134.1:c.712C>T, XM_017027141.2:c.505C>T, XM_017027141.1:c.505C>T, XM_017027140.2:c.505C>T, XM_017027140.1:c.505C>T, XM_017027133.2:c.844C>T, XM_017027133.1:c.844C>T, XM_017027137.2:c.706C>T, XM_017027137.1:c.706C>T, XM_017027136.2:c.844C>T, XM_017027136.1:c.844C>T, XM_017027138.2:c.712C>T, XM_017027138.1:c.712C>T, XM_047439216.1:c.505C>T, XM_047439217.1:c.505C>T, XM_047439214.1:c.712C>T, XM_047439215.1:c.706C>T, XM_047439218.1:c.505C>T, XM_047439219.1:c.844C>T, NP_690007.1:p.Arg236Ter, NP_690008.2:p.Arg238Ter, NP_071907.4:p.Arg169Ter, NP_690009.1:p.Arg169Ter, XP_005259209.1:p.Arg282Ter, XP_005259213.1:p.Arg282Ter, XP_005259210.3:p.Arg187Ter, XP_016882621.1:p.Arg282Ter, XP_016882624.1:p.Arg236Ter, XP_016882623.1:p.Arg238Ter, XP_016882630.1:p.Arg169Ter, XP_016882629.1:p.Arg169Ter, XP_016882622.1:p.Arg282Ter, XP_016882626.1:p.Arg236Ter, XP_016882625.1:p.Arg282Ter, XP_016882627.1:p.Arg238Ter, XP_047295172.1:p.Arg169Ter, XP_047295173.1:p.Arg169Ter, XP_047295170.1:p.Arg238Ter, XP_047295171.1:p.Arg236Ter, XP_047295174.1:p.Arg169Ter, XP_047295175.1:p.Arg282Ter

    2.

    rs1488473706 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:46308768 (GRCh38)
      19:46812025 (GRCh37)
      Canonical SPDI:
      NC_000019.10:46308767:C:T
      Gene:
      HIF3A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000094/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000019.10:g.46308768C>T, NC_000019.9:g.46812025C>T, NG_029679.1:g.16721C>T, NM_152794.4:c.548C>T, NM_152794.3:c.548C>T, NM_152795.4:c.554C>T, NM_152795.3:c.554C>T, NM_022462.4:c.347C>T, NM_152796.2:c.347C>T, XM_005259152.5:c.686C>T, XM_005259152.4:c.686C>T, XM_005259152.3:c.686C>T, XM_005259152.2:c.686C>T, XM_005259152.1:c.686C>T, XM_005259156.5:c.686C>T, XM_005259156.4:c.686C>T, XM_005259156.3:c.686C>T, XM_005259156.2:c.686C>T, XM_005259156.1:c.686C>T, XM_005259153.4:c.401C>T, XM_005259153.3:c.347C>T, XM_005259153.2:c.347C>T, XM_005259153.1:c.401C>T, XM_017027132.2:c.686C>T, XM_017027132.1:c.686C>T, XM_017027135.2:c.548C>T, XM_017027135.1:c.548C>T, XM_017027134.2:c.554C>T, XM_017027134.1:c.554C>T, XM_017027141.2:c.347C>T, XM_017027141.1:c.347C>T, XM_017027140.2:c.347C>T, XM_017027140.1:c.347C>T, XM_017027133.2:c.686C>T, XM_017027133.1:c.686C>T, XM_017027137.2:c.548C>T, XM_017027137.1:c.548C>T, XM_017027136.2:c.686C>T, XM_017027136.1:c.686C>T, XM_017027138.2:c.554C>T, XM_017027138.1:c.554C>T, XM_047439216.1:c.347C>T, XM_047439217.1:c.347C>T, XM_047439214.1:c.554C>T, XM_047439215.1:c.548C>T, XM_047439218.1:c.347C>T, XM_047439219.1:c.686C>T, NP_690007.1:p.Thr183Ile, NP_690008.2:p.Thr185Ile, NP_071907.4:p.Thr116Ile, NP_690009.1:p.Thr116Ile, XP_005259209.1:p.Thr229Ile, XP_005259213.1:p.Thr229Ile, XP_005259210.3:p.Thr134Ile, XP_016882621.1:p.Thr229Ile, XP_016882624.1:p.Thr183Ile, XP_016882623.1:p.Thr185Ile, XP_016882630.1:p.Thr116Ile, XP_016882629.1:p.Thr116Ile, XP_016882622.1:p.Thr229Ile, XP_016882626.1:p.Thr183Ile, XP_016882625.1:p.Thr229Ile, XP_016882627.1:p.Thr185Ile, XP_047295172.1:p.Thr116Ile, XP_047295173.1:p.Thr116Ile, XP_047295170.1:p.Thr185Ile, XP_047295171.1:p.Thr183Ile, XP_047295174.1:p.Thr116Ile, XP_047295175.1:p.Thr229Ile

      3.

      rs1487693299 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:46303951 (GRCh38)
        19:46807208 (GRCh37)
        Canonical SPDI:
        NC_000019.10:46303950:G:A
        Gene:
        HIF3A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000019.10:g.46303951G>A, NC_000019.9:g.46807208G>A, NG_029679.1:g.11904G>A, NM_152794.4:c.74G>A, NM_152794.3:c.74G>A, NM_152795.4:c.80G>A, NM_152795.3:c.80G>A, NM_022462.4:c.19G>A, NM_152796.2:c.19G>A, XM_005259152.5:c.212G>A, XM_005259152.4:c.212G>A, XM_005259152.3:c.212G>A, XM_005259152.2:c.212G>A, XM_005259152.1:c.212G>A, XM_005259156.5:c.212G>A, XM_005259156.4:c.212G>A, XM_005259156.3:c.212G>A, XM_005259156.2:c.212G>A, XM_005259156.1:c.212G>A, XM_005259153.4:c.73G>A, XM_005259153.3:c.19G>A, XM_005259153.2:c.19G>A, XM_005259153.1:c.73G>A, XM_017027132.2:c.212G>A, XM_017027132.1:c.212G>A, XM_017027135.2:c.74G>A, XM_017027135.1:c.74G>A, XM_017027134.2:c.80G>A, XM_017027134.1:c.80G>A, XM_017027141.2:c.19G>A, XM_017027141.1:c.19G>A, XM_017027140.2:c.19G>A, XM_017027140.1:c.19G>A, XM_017027133.2:c.212G>A, XM_017027133.1:c.212G>A, XM_017027137.2:c.74G>A, XM_017027137.1:c.74G>A, XM_017027136.2:c.212G>A, XM_017027136.1:c.212G>A, XM_017027138.2:c.80G>A, XM_017027138.1:c.80G>A, XM_047439216.1:c.19G>A, XM_047439217.1:c.19G>A, XM_047439214.1:c.80G>A, XM_047439215.1:c.74G>A, XM_047439218.1:c.19G>A, XM_047439219.1:c.212G>A, NP_690007.1:p.Arg25His, NP_690008.2:p.Arg27His, NP_071907.4:p.Ala7Thr, NP_690009.1:p.Ala7Thr, XP_005259209.1:p.Arg71His, XP_005259213.1:p.Arg71His, XP_005259210.3:p.Ala25Thr, XP_016882621.1:p.Arg71His, XP_016882624.1:p.Arg25His, XP_016882623.1:p.Arg27His, XP_016882630.1:p.Ala7Thr, XP_016882629.1:p.Ala7Thr, XP_016882622.1:p.Arg71His, XP_016882626.1:p.Arg25His, XP_016882625.1:p.Arg71His, XP_016882627.1:p.Arg27His, XP_047295172.1:p.Ala7Thr, XP_047295173.1:p.Ala7Thr, XP_047295170.1:p.Arg27His, XP_047295171.1:p.Arg25His, XP_047295174.1:p.Ala7Thr, XP_047295175.1:p.Arg71His

        4.

        rs1487437159 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          19:46303997 (GRCh38)
          19:46807254 (GRCh37)
          Canonical SPDI:
          NC_000019.10:46303996:C:A,NC_000019.10:46303996:C:T
          Gene:
          HIF3A (Varview)
          Functional Consequence:
          synonymous_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.46303997C>A, NC_000019.10:g.46303997C>T, NC_000019.9:g.46807254C>A, NC_000019.9:g.46807254C>T, NG_029679.1:g.11950C>A, NG_029679.1:g.11950C>T, NM_152794.4:c.120C>A, NM_152794.4:c.120C>T, NM_152794.3:c.120C>A, NM_152794.3:c.120C>T, NM_152795.4:c.126C>A, NM_152795.4:c.126C>T, NM_152795.3:c.126C>A, NM_152795.3:c.126C>T, NM_022462.4:c.65C>A, NM_022462.4:c.65C>T, NM_152796.2:c.65C>A, NM_152796.2:c.65C>T, XM_005259152.5:c.258C>A, XM_005259152.5:c.258C>T, XM_005259152.4:c.258C>A, XM_005259152.4:c.258C>T, XM_005259152.3:c.258C>A, XM_005259152.3:c.258C>T, XM_005259152.2:c.258C>A, XM_005259152.2:c.258C>T, XM_005259152.1:c.258C>A, XM_005259152.1:c.258C>T, XM_005259156.5:c.258C>A, XM_005259156.5:c.258C>T, XM_005259156.4:c.258C>A, XM_005259156.4:c.258C>T, XM_005259156.3:c.258C>A, XM_005259156.3:c.258C>T, XM_005259156.2:c.258C>A, XM_005259156.2:c.258C>T, XM_005259156.1:c.258C>A, XM_005259156.1:c.258C>T, XM_005259153.4:c.119C>A, XM_005259153.4:c.119C>T, XM_005259153.3:c.65C>A, XM_005259153.3:c.65C>T, XM_005259153.2:c.65C>A, XM_005259153.2:c.65C>T, XM_005259153.1:c.119C>A, XM_005259153.1:c.119C>T, XM_017027132.2:c.258C>A, XM_017027132.2:c.258C>T, XM_017027132.1:c.258C>A, XM_017027132.1:c.258C>T, XM_017027135.2:c.120C>A, XM_017027135.2:c.120C>T, XM_017027135.1:c.120C>A, XM_017027135.1:c.120C>T, XM_017027134.2:c.126C>A, XM_017027134.2:c.126C>T, XM_017027134.1:c.126C>A, XM_017027134.1:c.126C>T, XM_017027141.2:c.65C>A, XM_017027141.2:c.65C>T, XM_017027141.1:c.65C>A, XM_017027141.1:c.65C>T, XM_017027140.2:c.65C>A, XM_017027140.2:c.65C>T, XM_017027140.1:c.65C>A, XM_017027140.1:c.65C>T, XM_017027133.2:c.258C>A, XM_017027133.2:c.258C>T, XM_017027133.1:c.258C>A, XM_017027133.1:c.258C>T, XM_017027137.2:c.120C>A, XM_017027137.2:c.120C>T, XM_017027137.1:c.120C>A, XM_017027137.1:c.120C>T, XM_017027136.2:c.258C>A, XM_017027136.2:c.258C>T, XM_017027136.1:c.258C>A, XM_017027136.1:c.258C>T, XM_017027138.2:c.126C>A, XM_017027138.2:c.126C>T, XM_017027138.1:c.126C>A, XM_017027138.1:c.126C>T, XM_047439216.1:c.65C>A, XM_047439216.1:c.65C>T, XM_047439217.1:c.65C>A, XM_047439217.1:c.65C>T, XM_047439214.1:c.126C>A, XM_047439214.1:c.126C>T, XM_047439215.1:c.120C>A, XM_047439215.1:c.120C>T, XM_047439218.1:c.65C>A, XM_047439218.1:c.65C>T, XM_047439219.1:c.258C>A, XM_047439219.1:c.258C>T, NP_071907.4:p.Pro22His, NP_071907.4:p.Pro22Leu, NP_690009.1:p.Pro22His, NP_690009.1:p.Pro22Leu, XP_005259210.3:p.Pro40His, XP_005259210.3:p.Pro40Leu, XP_016882630.1:p.Pro22His, XP_016882630.1:p.Pro22Leu, XP_016882629.1:p.Pro22His, XP_016882629.1:p.Pro22Leu, XP_047295172.1:p.Pro22His, XP_047295172.1:p.Pro22Leu, XP_047295173.1:p.Pro22His, XP_047295173.1:p.Pro22Leu, XP_047295174.1:p.Pro22His, XP_047295174.1:p.Pro22Leu

          5.

          rs1486861108 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:46303990 (GRCh38)
            19:46807247 (GRCh37)
            Canonical SPDI:
            NC_000019.10:46303989:C:T
            Gene:
            HIF3A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_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.46303990C>T, NC_000019.9:g.46807247C>T, NG_029679.1:g.11943C>T, NM_152794.4:c.113C>T, NM_152794.3:c.113C>T, NM_152795.4:c.119C>T, NM_152795.3:c.119C>T, NM_022462.4:c.58C>T, NM_152796.2:c.58C>T, XM_005259152.5:c.251C>T, XM_005259152.4:c.251C>T, XM_005259152.3:c.251C>T, XM_005259152.2:c.251C>T, XM_005259152.1:c.251C>T, XM_005259156.5:c.251C>T, XM_005259156.4:c.251C>T, XM_005259156.3:c.251C>T, XM_005259156.2:c.251C>T, XM_005259156.1:c.251C>T, XM_005259153.4:c.112C>T, XM_005259153.3:c.58C>T, XM_005259153.2:c.58C>T, XM_005259153.1:c.112C>T, XM_017027132.2:c.251C>T, XM_017027132.1:c.251C>T, XM_017027135.2:c.113C>T, XM_017027135.1:c.113C>T, XM_017027134.2:c.119C>T, XM_017027134.1:c.119C>T, XM_017027141.2:c.58C>T, XM_017027141.1:c.58C>T, XM_017027140.2:c.58C>T, XM_017027140.1:c.58C>T, XM_017027133.2:c.251C>T, XM_017027133.1:c.251C>T, XM_017027137.2:c.113C>T, XM_017027137.1:c.113C>T, XM_017027136.2:c.251C>T, XM_017027136.1:c.251C>T, XM_017027138.2:c.119C>T, XM_017027138.1:c.119C>T, XM_047439216.1:c.58C>T, XM_047439217.1:c.58C>T, XM_047439214.1:c.119C>T, XM_047439215.1:c.113C>T, XM_047439218.1:c.58C>T, XM_047439219.1:c.251C>T, NP_690007.1:p.Thr38Met, NP_690008.2:p.Thr40Met, NP_071907.4:p.Arg20Cys, NP_690009.1:p.Arg20Cys, XP_005259209.1:p.Thr84Met, XP_005259213.1:p.Thr84Met, XP_005259210.3:p.Arg38Cys, XP_016882621.1:p.Thr84Met, XP_016882624.1:p.Thr38Met, XP_016882623.1:p.Thr40Met, XP_016882630.1:p.Arg20Cys, XP_016882629.1:p.Arg20Cys, XP_016882622.1:p.Thr84Met, XP_016882626.1:p.Thr38Met, XP_016882625.1:p.Thr84Met, XP_016882627.1:p.Thr40Met, XP_047295172.1:p.Arg20Cys, XP_047295173.1:p.Arg20Cys, XP_047295170.1:p.Thr40Met, XP_047295171.1:p.Thr38Met, XP_047295174.1:p.Arg20Cys, XP_047295175.1:p.Thr84Met

            6.

            rs1486680344 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              19:46308769 (GRCh38)
              19:46812026 (GRCh37)
              Canonical SPDI:
              NC_000019.10:46308768:C:A
              Gene:
              HIF3A (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=0.000014/2 (GnomAD)
              HGVS:
              NC_000019.10:g.46308769C>A, NC_000019.9:g.46812026C>A, NG_029679.1:g.16722C>A, NM_152794.4:c.549C>A, NM_152794.3:c.549C>A, NM_152795.4:c.555C>A, NM_152795.3:c.555C>A, NM_022462.4:c.348C>A, NM_152796.2:c.348C>A, XM_005259152.5:c.687C>A, XM_005259152.4:c.687C>A, XM_005259152.3:c.687C>A, XM_005259152.2:c.687C>A, XM_005259152.1:c.687C>A, XM_005259156.5:c.687C>A, XM_005259156.4:c.687C>A, XM_005259156.3:c.687C>A, XM_005259156.2:c.687C>A, XM_005259156.1:c.687C>A, XM_005259153.4:c.402C>A, XM_005259153.3:c.348C>A, XM_005259153.2:c.348C>A, XM_005259153.1:c.402C>A, XM_017027132.2:c.687C>A, XM_017027132.1:c.687C>A, XM_017027135.2:c.549C>A, XM_017027135.1:c.549C>A, XM_017027134.2:c.555C>A, XM_017027134.1:c.555C>A, XM_017027141.2:c.348C>A, XM_017027141.1:c.348C>A, XM_017027140.2:c.348C>A, XM_017027140.1:c.348C>A, XM_017027133.2:c.687C>A, XM_017027133.1:c.687C>A, XM_017027137.2:c.549C>A, XM_017027137.1:c.549C>A, XM_017027136.2:c.687C>A, XM_017027136.1:c.687C>A, XM_017027138.2:c.555C>A, XM_017027138.1:c.555C>A, XM_047439216.1:c.348C>A, XM_047439217.1:c.348C>A, XM_047439214.1:c.555C>A, XM_047439215.1:c.549C>A, XM_047439218.1:c.348C>A, XM_047439219.1:c.687C>A

              7.

              rs1484433092 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                19:46298443 (GRCh38)
                19:46801700 (GRCh37)
                Canonical SPDI:
                NC_000019.10:46298442:G:A,NC_000019.10:46298442:G:C
                Gene:
                HIF3A (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000066/1 (ALFA)
                A=0.000014/2 (GnomAD)
                A=0.000223/1 (Estonian)
                HGVS:
                NC_000019.10:g.46298443G>A, NC_000019.10:g.46298443G>C, NC_000019.9:g.46801700G>A, NC_000019.9:g.46801700G>C, NG_029679.1:g.6396G>A, NG_029679.1:g.6396G>C, NM_022462.4:c.-107G>A, NM_022462.4:c.-107G>C, NM_152796.2:c.-107G>A, NM_152796.2:c.-107G>C, XM_005259152.5:c.87G>A, XM_005259152.5:c.87G>C, XM_005259152.4:c.87G>A, XM_005259152.4:c.87G>C, XM_005259152.3:c.87G>A, XM_005259152.3:c.87G>C, XM_005259152.2:c.87G>A, XM_005259152.2:c.87G>C, XM_005259152.1:c.87G>A, XM_005259152.1:c.87G>C, XM_005259156.5:c.87G>A, XM_005259156.5:c.87G>C, XM_005259156.4:c.87G>A, XM_005259156.4:c.87G>C, XM_005259156.3:c.87G>A, XM_005259156.3:c.87G>C, XM_005259156.2:c.87G>A, XM_005259156.2:c.87G>C, XM_005259156.1:c.87G>A, XM_005259156.1:c.87G>C, XM_017027132.2:c.87G>A, XM_017027132.2:c.87G>C, XM_017027132.1:c.87G>A, XM_017027132.1:c.87G>C, XM_017027133.2:c.87G>A, XM_017027133.2:c.87G>C, XM_017027133.1:c.87G>A, XM_017027133.1:c.87G>C, XM_017027136.2:c.87G>A, XM_017027136.2:c.87G>C, XM_017027136.1:c.87G>A, XM_017027136.1:c.87G>C, XM_047439216.1:c.-107G>A, XM_047439216.1:c.-107G>C, XM_047439219.1:c.87G>A, XM_047439219.1:c.87G>C

                8.

                rs1484419814 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:46312617 (GRCh38)
                  19:46815874 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:46312616:A:G
                  Gene:
                  HIF3A (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000447/2 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000446/2 (Estonian)
                  HGVS:
                  NC_000019.10:g.46312617A>G, NC_000019.9:g.46815874A>G, NG_029679.1:g.20570A>G, NM_152794.4:c.983A>G, NM_152794.3:c.983A>G, NM_152795.4:c.989A>G, NM_152795.3:c.989A>G, NM_022462.4:c.782A>G, NM_152796.2:c.782A>G, XM_005259152.5:c.1121A>G, XM_005259152.4:c.1121A>G, XM_005259152.3:c.1121A>G, XM_005259152.2:c.1121A>G, XM_005259152.1:c.1121A>G, XM_005259156.5:c.1121A>G, XM_005259156.4:c.1121A>G, XM_005259156.3:c.1121A>G, XM_005259156.2:c.1121A>G, XM_005259156.1:c.1121A>G, XM_005259153.4:c.836A>G, XM_005259153.3:c.782A>G, XM_005259153.2:c.782A>G, XM_005259153.1:c.836A>G, XM_017027132.2:c.1121A>G, XM_017027132.1:c.1121A>G, XM_017027135.2:c.983A>G, XM_017027135.1:c.983A>G, XM_017027134.2:c.989A>G, XM_017027134.1:c.989A>G, XM_017027141.2:c.782A>G, XM_017027141.1:c.782A>G, XM_017027140.2:c.782A>G, XM_017027140.1:c.782A>G, XM_017027133.2:c.1121A>G, XM_017027133.1:c.1121A>G, XM_017027137.2:c.983A>G, XM_017027137.1:c.983A>G, XM_017027136.2:c.1121A>G, XM_017027136.1:c.1121A>G, XM_017027138.2:c.989A>G, XM_017027138.1:c.989A>G, XM_047439216.1:c.782A>G, XM_047439217.1:c.782A>G, XM_047439214.1:c.989A>G, XM_047439215.1:c.983A>G, XM_047439218.1:c.782A>G, NP_690007.1:p.Gln328Arg, NP_690008.2:p.Gln330Arg, NP_071907.4:p.Gln261Arg, NP_690009.1:p.Gln261Arg, XP_005259209.1:p.Gln374Arg, XP_005259213.1:p.Gln374Arg, XP_005259210.3:p.Gln279Arg, XP_016882621.1:p.Gln374Arg, XP_016882624.1:p.Gln328Arg, XP_016882623.1:p.Gln330Arg, XP_016882630.1:p.Gln261Arg, XP_016882629.1:p.Gln261Arg, XP_016882622.1:p.Gln374Arg, XP_016882626.1:p.Gln328Arg, XP_016882625.1:p.Gln374Arg, XP_016882627.1:p.Gln330Arg, XP_047295172.1:p.Gln261Arg, XP_047295173.1:p.Gln261Arg, XP_047295170.1:p.Gln330Arg, XP_047295171.1:p.Gln328Arg, XP_047295174.1:p.Gln261Arg

                  9.

                  rs1482141071 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:46321946 (GRCh38)
                    19:46825203 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:46321945:C:T
                    Gene:
                    HIF3A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000019.10:g.46321946C>T, NC_000019.9:g.46825203C>T, NG_029679.1:g.29899C>T, NM_152794.4:c.1309C>T, NM_152794.3:c.1309C>T, NM_152795.4:c.1315C>T, NM_152795.3:c.1315C>T, NM_022462.4:c.1108C>T, NM_152796.2:c.1108C>T, XM_005259152.5:c.1447C>T, XM_005259152.4:c.1447C>T, XM_005259152.3:c.1447C>T, XM_005259152.2:c.1447C>T, XM_005259152.1:c.1447C>T, XM_005259156.5:c.1447C>T, XM_005259156.4:c.1447C>T, XM_005259156.3:c.1447C>T, XM_005259156.2:c.1447C>T, XM_005259156.1:c.1447C>T, XM_005259153.4:c.1162C>T, XM_005259153.3:c.1108C>T, XM_005259153.2:c.1108C>T, XM_005259153.1:c.1162C>T, XM_017027132.2:c.1447C>T, XM_017027132.1:c.1447C>T, XM_017027135.2:c.1309C>T, XM_017027135.1:c.1309C>T, XM_017027134.2:c.1315C>T, XM_017027134.1:c.1315C>T, XM_017027141.2:c.1108C>T, XM_017027141.1:c.1108C>T, XM_017027140.2:c.1108C>T, XM_017027140.1:c.1108C>T, XM_017027133.2:c.1447C>T, XM_017027133.1:c.1447C>T, XM_017027137.2:c.1309C>T, XM_017027137.1:c.1309C>T, XM_017027136.2:c.1447C>T, XM_017027136.1:c.1447C>T, XM_017027138.2:c.1315C>T, XM_017027138.1:c.1315C>T, XM_047439216.1:c.1108C>T, XM_047439217.1:c.1108C>T, XM_047439214.1:c.1315C>T, XM_047439215.1:c.1309C>T, XM_047439218.1:c.1108C>T, NP_690007.1:p.His437Tyr, NP_690008.2:p.His439Tyr, NP_071907.4:p.His370Tyr, NP_690009.1:p.His370Tyr, XP_005259209.1:p.His483Tyr, XP_005259213.1:p.His483Tyr, XP_005259210.3:p.His388Tyr, XP_016882621.1:p.His483Tyr, XP_016882624.1:p.His437Tyr, XP_016882623.1:p.His439Tyr, XP_016882630.1:p.His370Tyr, XP_016882629.1:p.His370Tyr, XP_016882622.1:p.His483Tyr, XP_016882626.1:p.His437Tyr, XP_016882625.1:p.His483Tyr, XP_016882627.1:p.His439Tyr, XP_047295172.1:p.His370Tyr, XP_047295173.1:p.His370Tyr, XP_047295170.1:p.His439Tyr, XP_047295171.1:p.His437Tyr, XP_047295174.1:p.His370Tyr

                    10.

                    rs1481390996 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:46312534 (GRCh38)
                      19:46815791 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:46312533:G:A
                      Gene:
                      HIF3A (Varview)
                      Functional Consequence:
                      synonymous_variant,intron_variant,coding_sequence_variant
                      HGVS:
                      NC_000019.10:g.46312534G>A, NC_000019.9:g.46815791G>A, NG_029679.1:g.20487G>A, NM_152794.4:c.900G>A, NM_152794.3:c.900G>A, NM_152795.4:c.906G>A, NM_152795.3:c.906G>A, NM_022462.4:c.699G>A, NM_152796.2:c.699G>A, XM_005259152.5:c.1038G>A, XM_005259152.4:c.1038G>A, XM_005259152.3:c.1038G>A, XM_005259152.2:c.1038G>A, XM_005259152.1:c.1038G>A, XM_005259156.5:c.1038G>A, XM_005259156.4:c.1038G>A, XM_005259156.3:c.1038G>A, XM_005259156.2:c.1038G>A, XM_005259156.1:c.1038G>A, XM_005259153.4:c.753G>A, XM_005259153.3:c.699G>A, XM_005259153.2:c.699G>A, XM_005259153.1:c.753G>A, XM_017027132.2:c.1038G>A, XM_017027132.1:c.1038G>A, XM_017027135.2:c.900G>A, XM_017027135.1:c.900G>A, XM_017027134.2:c.906G>A, XM_017027134.1:c.906G>A, XM_017027141.2:c.699G>A, XM_017027141.1:c.699G>A, XM_017027140.2:c.699G>A, XM_017027140.1:c.699G>A, XM_017027133.2:c.1038G>A, XM_017027133.1:c.1038G>A, XM_017027137.2:c.900G>A, XM_017027137.1:c.900G>A, XM_017027136.2:c.1038G>A, XM_017027136.1:c.1038G>A, XM_017027138.2:c.906G>A, XM_017027138.1:c.906G>A, XM_047439216.1:c.699G>A, XM_047439217.1:c.699G>A, XM_047439214.1:c.906G>A, XM_047439215.1:c.900G>A, XM_047439218.1:c.699G>A

                      11.

                      rs1479398392 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:46308689 (GRCh38)
                        19:46811946 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:46308688:C:T
                        Gene:
                        HIF3A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.46308689C>T, NC_000019.9:g.46811946C>T, NG_029679.1:g.16642C>T, NM_152794.4:c.469C>T, NM_152794.3:c.469C>T, NM_152795.4:c.475C>T, NM_152795.3:c.475C>T, NM_022462.4:c.268C>T, NM_152796.2:c.268C>T, XM_005259152.5:c.607C>T, XM_005259152.4:c.607C>T, XM_005259152.3:c.607C>T, XM_005259152.2:c.607C>T, XM_005259152.1:c.607C>T, XM_005259156.5:c.607C>T, XM_005259156.4:c.607C>T, XM_005259156.3:c.607C>T, XM_005259156.2:c.607C>T, XM_005259156.1:c.607C>T, XM_005259153.4:c.322C>T, XM_005259153.3:c.268C>T, XM_005259153.2:c.268C>T, XM_005259153.1:c.322C>T, XM_017027132.2:c.607C>T, XM_017027132.1:c.607C>T, XM_017027135.2:c.469C>T, XM_017027135.1:c.469C>T, XM_017027134.2:c.475C>T, XM_017027134.1:c.475C>T, XM_017027141.2:c.268C>T, XM_017027141.1:c.268C>T, XM_017027140.2:c.268C>T, XM_017027140.1:c.268C>T, XM_017027133.2:c.607C>T, XM_017027133.1:c.607C>T, XM_017027137.2:c.469C>T, XM_017027137.1:c.469C>T, XM_017027136.2:c.607C>T, XM_017027136.1:c.607C>T, XM_017027138.2:c.475C>T, XM_017027138.1:c.475C>T, XM_047439216.1:c.268C>T, XM_047439217.1:c.268C>T, XM_047439214.1:c.475C>T, XM_047439215.1:c.469C>T, XM_047439218.1:c.268C>T, XM_047439219.1:c.607C>T, NP_690007.1:p.Pro157Ser, NP_690008.2:p.Pro159Ser, NP_071907.4:p.Pro90Ser, NP_690009.1:p.Pro90Ser, XP_005259209.1:p.Pro203Ser, XP_005259213.1:p.Pro203Ser, XP_005259210.3:p.Pro108Ser, XP_016882621.1:p.Pro203Ser, XP_016882624.1:p.Pro157Ser, XP_016882623.1:p.Pro159Ser, XP_016882630.1:p.Pro90Ser, XP_016882629.1:p.Pro90Ser, XP_016882622.1:p.Pro203Ser, XP_016882626.1:p.Pro157Ser, XP_016882625.1:p.Pro203Ser, XP_016882627.1:p.Pro159Ser, XP_047295172.1:p.Pro90Ser, XP_047295173.1:p.Pro90Ser, XP_047295170.1:p.Pro159Ser, XP_047295171.1:p.Pro157Ser, XP_047295174.1:p.Pro90Ser, XP_047295175.1:p.Pro203Ser

                        12.

                        rs1479154746 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:46325605 (GRCh38)
                          19:46828862 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:46325604:C:T
                          Gene:
                          HIF3A (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.46325605C>T, NC_000019.9:g.46828862C>T, NG_029679.1:g.33558C>T, NM_152794.4:c.1400C>T, NM_152794.3:c.1400C>T, NM_152795.4:c.1406C>T, NM_152795.3:c.1406C>T, NM_022462.4:c.1199C>T, NM_152796.2:c.1199C>T, XM_005259152.5:c.1538C>T, XM_005259152.4:c.1538C>T, XM_005259152.3:c.1538C>T, XM_005259152.2:c.1538C>T, XM_005259152.1:c.1538C>T, XM_005259156.5:c.1538C>T, XM_005259156.4:c.1538C>T, XM_005259156.3:c.1538C>T, XM_005259156.2:c.1538C>T, XM_005259156.1:c.1538C>T, XM_005259153.4:c.1253C>T, XM_005259153.3:c.1199C>T, XM_005259153.2:c.1199C>T, XM_005259153.1:c.1253C>T, XM_017027132.2:c.1538C>T, XM_017027132.1:c.1538C>T, XM_017027135.2:c.1400C>T, XM_017027135.1:c.1400C>T, XM_017027134.2:c.1406C>T, XM_017027134.1:c.1406C>T, XM_017027141.2:c.1199C>T, XM_017027141.1:c.1199C>T, XM_017027140.2:c.1199C>T, XM_017027140.1:c.1199C>T, XM_017027133.2:c.1538C>T, XM_017027133.1:c.1538C>T, XM_017027137.2:c.1400C>T, XM_017027137.1:c.1400C>T, XM_017027136.2:c.1538C>T, XM_017027136.1:c.1538C>T, XM_017027138.2:c.1406C>T, XM_017027138.1:c.1406C>T, XM_047439216.1:c.1199C>T, XM_047439217.1:c.1199C>T, XM_047439214.1:c.1406C>T, XM_047439215.1:c.1400C>T, XM_047439218.1:c.1199C>T, NP_690007.1:p.Thr467Ile, NP_690008.2:p.Thr469Ile, NP_071907.4:p.Thr400Ile, NP_690009.1:p.Thr400Ile, XP_005259209.1:p.Thr513Ile, XP_005259213.1:p.Thr513Ile, XP_005259210.3:p.Thr418Ile, XP_016882621.1:p.Thr513Ile, XP_016882624.1:p.Thr467Ile, XP_016882623.1:p.Thr469Ile, XP_016882630.1:p.Thr400Ile, XP_016882629.1:p.Thr400Ile, XP_016882622.1:p.Thr513Ile, XP_016882626.1:p.Thr467Ile, XP_016882625.1:p.Thr513Ile, XP_016882627.1:p.Thr469Ile, XP_047295172.1:p.Thr400Ile, XP_047295173.1:p.Thr400Ile, XP_047295170.1:p.Thr469Ile, XP_047295171.1:p.Thr467Ile, XP_047295174.1:p.Thr400Ile

                          13.

                          rs1478112815 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            19:46303973 (GRCh38)
                            19:46807230 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:46303972:G:A,NC_000019.10:46303972:G:C
                            Gene:
                            HIF3A (Varview)
                            Functional Consequence:
                            synonymous_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000019.10:g.46303973G>A, NC_000019.10:g.46303973G>C, NC_000019.9:g.46807230G>A, NC_000019.9:g.46807230G>C, NG_029679.1:g.11926G>A, NG_029679.1:g.11926G>C, NM_152794.4:c.96G>A, NM_152794.4:c.96G>C, NM_152794.3:c.96G>A, NM_152794.3:c.96G>C, NM_152795.4:c.102G>A, NM_152795.4:c.102G>C, NM_152795.3:c.102G>A, NM_152795.3:c.102G>C, NM_022462.4:c.41G>A, NM_022462.4:c.41G>C, NM_152796.2:c.41G>A, NM_152796.2:c.41G>C, XM_005259152.5:c.234G>A, XM_005259152.5:c.234G>C, XM_005259152.4:c.234G>A, XM_005259152.4:c.234G>C, XM_005259152.3:c.234G>A, XM_005259152.3:c.234G>C, XM_005259152.2:c.234G>A, XM_005259152.2:c.234G>C, XM_005259152.1:c.234G>A, XM_005259152.1:c.234G>C, XM_005259156.5:c.234G>A, XM_005259156.5:c.234G>C, XM_005259156.4:c.234G>A, XM_005259156.4:c.234G>C, XM_005259156.3:c.234G>A, XM_005259156.3:c.234G>C, XM_005259156.2:c.234G>A, XM_005259156.2:c.234G>C, XM_005259156.1:c.234G>A, XM_005259156.1:c.234G>C, XM_005259153.4:c.95G>A, XM_005259153.4:c.95G>C, XM_005259153.3:c.41G>A, XM_005259153.3:c.41G>C, XM_005259153.2:c.41G>A, XM_005259153.2:c.41G>C, XM_005259153.1:c.95G>A, XM_005259153.1:c.95G>C, XM_017027132.2:c.234G>A, XM_017027132.2:c.234G>C, XM_017027132.1:c.234G>A, XM_017027132.1:c.234G>C, XM_017027135.2:c.96G>A, XM_017027135.2:c.96G>C, XM_017027135.1:c.96G>A, XM_017027135.1:c.96G>C, XM_017027134.2:c.102G>A, XM_017027134.2:c.102G>C, XM_017027134.1:c.102G>A, XM_017027134.1:c.102G>C, XM_017027141.2:c.41G>A, XM_017027141.2:c.41G>C, XM_017027141.1:c.41G>A, XM_017027141.1:c.41G>C, XM_017027140.2:c.41G>A, XM_017027140.2:c.41G>C, XM_017027140.1:c.41G>A, XM_017027140.1:c.41G>C, XM_017027133.2:c.234G>A, XM_017027133.2:c.234G>C, XM_017027133.1:c.234G>A, XM_017027133.1:c.234G>C, XM_017027137.2:c.96G>A, XM_017027137.2:c.96G>C, XM_017027137.1:c.96G>A, XM_017027137.1:c.96G>C, XM_017027136.2:c.234G>A, XM_017027136.2:c.234G>C, XM_017027136.1:c.234G>A, XM_017027136.1:c.234G>C, XM_017027138.2:c.102G>A, XM_017027138.2:c.102G>C, XM_017027138.1:c.102G>A, XM_017027138.1:c.102G>C, XM_047439216.1:c.41G>A, XM_047439216.1:c.41G>C, XM_047439217.1:c.41G>A, XM_047439217.1:c.41G>C, XM_047439214.1:c.102G>A, XM_047439214.1:c.102G>C, XM_047439215.1:c.96G>A, XM_047439215.1:c.96G>C, XM_047439218.1:c.41G>A, XM_047439218.1:c.41G>C, XM_047439219.1:c.234G>A, XM_047439219.1:c.234G>C, NP_071907.4:p.Cys14Tyr, NP_071907.4:p.Cys14Ser, NP_690009.1:p.Cys14Tyr, NP_690009.1:p.Cys14Ser, XP_005259210.3:p.Cys32Tyr, XP_005259210.3:p.Cys32Ser, XP_016882630.1:p.Cys14Tyr, XP_016882630.1:p.Cys14Ser, XP_016882629.1:p.Cys14Tyr, XP_016882629.1:p.Cys14Ser, XP_047295172.1:p.Cys14Tyr, XP_047295172.1:p.Cys14Ser, XP_047295173.1:p.Cys14Tyr, XP_047295173.1:p.Cys14Ser, XP_047295174.1:p.Cys14Tyr, XP_047295174.1:p.Cys14Ser

                            14.

                            rs1478053745 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:46308736 (GRCh38)
                              19:46811993 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:46308735:C:T
                              Gene:
                              HIF3A (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              HGVS:
                              NC_000019.10:g.46308736C>T, NC_000019.9:g.46811993C>T, NG_029679.1:g.16689C>T, NM_152794.4:c.516C>T, NM_152794.3:c.516C>T, NM_152795.4:c.522C>T, NM_152795.3:c.522C>T, NM_022462.4:c.315C>T, NM_152796.2:c.315C>T, XM_005259152.5:c.654C>T, XM_005259152.4:c.654C>T, XM_005259152.3:c.654C>T, XM_005259152.2:c.654C>T, XM_005259152.1:c.654C>T, XM_005259156.5:c.654C>T, XM_005259156.4:c.654C>T, XM_005259156.3:c.654C>T, XM_005259156.2:c.654C>T, XM_005259156.1:c.654C>T, XM_005259153.4:c.369C>T, XM_005259153.3:c.315C>T, XM_005259153.2:c.315C>T, XM_005259153.1:c.369C>T, XM_017027132.2:c.654C>T, XM_017027132.1:c.654C>T, XM_017027135.2:c.516C>T, XM_017027135.1:c.516C>T, XM_017027134.2:c.522C>T, XM_017027134.1:c.522C>T, XM_017027141.2:c.315C>T, XM_017027141.1:c.315C>T, XM_017027140.2:c.315C>T, XM_017027140.1:c.315C>T, XM_017027133.2:c.654C>T, XM_017027133.1:c.654C>T, XM_017027137.2:c.516C>T, XM_017027137.1:c.516C>T, XM_017027136.2:c.654C>T, XM_017027136.1:c.654C>T, XM_017027138.2:c.522C>T, XM_017027138.1:c.522C>T, XM_047439216.1:c.315C>T, XM_047439217.1:c.315C>T, XM_047439214.1:c.522C>T, XM_047439215.1:c.516C>T, XM_047439218.1:c.315C>T, XM_047439219.1:c.654C>T

                              15.

                              rs1476628601 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:46309215 (GRCh38)
                                19:46812472 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:46309214:G:A
                                Gene:
                                HIF3A (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000019.10:g.46309215G>A, NC_000019.9:g.46812472G>A, NG_029679.1:g.17168G>A, NM_152794.4:c.620G>A, NM_152794.3:c.620G>A, NM_152795.4:c.626G>A, NM_152795.3:c.626G>A, NM_022462.4:c.419G>A, NM_152796.2:c.419G>A, XM_005259152.5:c.758G>A, XM_005259152.4:c.758G>A, XM_005259152.3:c.758G>A, XM_005259152.2:c.758G>A, XM_005259152.1:c.758G>A, XM_005259156.5:c.758G>A, XM_005259156.4:c.758G>A, XM_005259156.3:c.758G>A, XM_005259156.2:c.758G>A, XM_005259156.1:c.758G>A, XM_005259153.4:c.473G>A, XM_005259153.3:c.419G>A, XM_005259153.2:c.419G>A, XM_005259153.1:c.473G>A, XM_017027132.2:c.758G>A, XM_017027132.1:c.758G>A, XM_017027135.2:c.620G>A, XM_017027135.1:c.620G>A, XM_017027134.2:c.626G>A, XM_017027134.1:c.626G>A, XM_017027141.2:c.419G>A, XM_017027141.1:c.419G>A, XM_017027140.2:c.419G>A, XM_017027140.1:c.419G>A, XM_017027133.2:c.758G>A, XM_017027133.1:c.758G>A, XM_017027137.2:c.620G>A, XM_017027137.1:c.620G>A, XM_017027136.2:c.758G>A, XM_017027136.1:c.758G>A, XM_017027138.2:c.626G>A, XM_017027138.1:c.626G>A, XM_047439216.1:c.419G>A, XM_047439217.1:c.419G>A, XM_047439214.1:c.626G>A, XM_047439215.1:c.620G>A, XM_047439218.1:c.419G>A, XM_047439219.1:c.758G>A, NP_690007.1:p.Ser207Asn, NP_690008.2:p.Ser209Asn, NP_071907.4:p.Ser140Asn, NP_690009.1:p.Ser140Asn, XP_005259209.1:p.Ser253Asn, XP_005259213.1:p.Ser253Asn, XP_005259210.3:p.Ser158Asn, XP_016882621.1:p.Ser253Asn, XP_016882624.1:p.Ser207Asn, XP_016882623.1:p.Ser209Asn, XP_016882630.1:p.Ser140Asn, XP_016882629.1:p.Ser140Asn, XP_016882622.1:p.Ser253Asn, XP_016882626.1:p.Ser207Asn, XP_016882625.1:p.Ser253Asn, XP_016882627.1:p.Ser209Asn, XP_047295172.1:p.Ser140Asn, XP_047295173.1:p.Ser140Asn, XP_047295170.1:p.Ser209Asn, XP_047295171.1:p.Ser207Asn, XP_047295174.1:p.Ser140Asn, XP_047295175.1:p.Ser253Asn

                                16.

                                rs1475745852 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:46312261 (GRCh38)
                                  19:46815518 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:46312260:C:T
                                  Gene:
                                  HIF3A (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.46312261C>T, NC_000019.9:g.46815518C>T, NG_029679.1:g.20214C>T, NM_152794.4:c.865C>T, NM_152794.3:c.865C>T, NM_152795.4:c.871C>T, NM_152795.3:c.871C>T, NM_022462.4:c.664C>T, NM_152796.2:c.664C>T, XM_005259152.5:c.1003C>T, XM_005259152.4:c.1003C>T, XM_005259152.3:c.1003C>T, XM_005259152.2:c.1003C>T, XM_005259152.1:c.1003C>T, XM_005259156.5:c.1003C>T, XM_005259156.4:c.1003C>T, XM_005259156.3:c.1003C>T, XM_005259156.2:c.1003C>T, XM_005259156.1:c.1003C>T, XM_005259153.4:c.718C>T, XM_005259153.3:c.664C>T, XM_005259153.2:c.664C>T, XM_005259153.1:c.718C>T, XM_017027132.2:c.1003C>T, XM_017027132.1:c.1003C>T, XM_017027135.2:c.865C>T, XM_017027135.1:c.865C>T, XM_017027134.2:c.871C>T, XM_017027134.1:c.871C>T, XM_017027141.2:c.664C>T, XM_017027141.1:c.664C>T, XM_017027140.2:c.664C>T, XM_017027140.1:c.664C>T, XM_017027133.2:c.1003C>T, XM_017027133.1:c.1003C>T, XM_017027137.2:c.865C>T, XM_017027137.1:c.865C>T, XM_017027136.2:c.1003C>T, XM_017027136.1:c.1003C>T, XM_017027138.2:c.871C>T, XM_017027138.1:c.871C>T, XM_047439216.1:c.664C>T, XM_047439217.1:c.664C>T, XM_047439214.1:c.871C>T, XM_047439215.1:c.865C>T, XM_047439218.1:c.664C>T, XM_047439219.1:c.1003C>T, NP_690007.1:p.His289Tyr, NP_690008.2:p.His291Tyr, NP_071907.4:p.His222Tyr, NP_690009.1:p.His222Tyr, XP_005259209.1:p.His335Tyr, XP_005259213.1:p.His335Tyr, XP_005259210.3:p.His240Tyr, XP_016882621.1:p.His335Tyr, XP_016882624.1:p.His289Tyr, XP_016882623.1:p.His291Tyr, XP_016882630.1:p.His222Tyr, XP_016882629.1:p.His222Tyr, XP_016882622.1:p.His335Tyr, XP_016882626.1:p.His289Tyr, XP_016882625.1:p.His335Tyr, XP_016882627.1:p.His291Tyr, XP_047295172.1:p.His222Tyr, XP_047295173.1:p.His222Tyr, XP_047295170.1:p.His291Tyr, XP_047295171.1:p.His289Tyr, XP_047295174.1:p.His222Tyr, XP_047295175.1:p.His335Tyr

                                  17.

                                  rs1473625265 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    19:46339583 (GRCh38)
                                    19:46842840 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:46339582:C:G,NC_000019.10:46339582:C:T
                                    Gene:
                                    HIF3A (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000019.10:g.46339583C>G, NC_000019.10:g.46339583C>T, NC_000019.9:g.46842840C>G, NC_000019.9:g.46842840C>T, NG_029679.1:g.47536C>G, NG_029679.1:g.47536C>T, NM_152794.4:c.1965C>G, NM_152794.4:c.1965C>T, NM_152794.3:c.1965C>G, NM_152794.3:c.1965C>T, NM_152795.4:c.1971C>G, NM_152795.4:c.1971C>T, NM_152795.3:c.1971C>G, NM_152795.3:c.1971C>T, NM_022462.4:c.1764C>G, NM_022462.4:c.1764C>T, XM_005259152.5:c.2103C>G, XM_005259152.5:c.2103C>T, XM_005259152.4:c.2103C>G, XM_005259152.4:c.2103C>T, XM_005259152.3:c.2103C>G, XM_005259152.3:c.2103C>T, XM_005259152.2:c.2103C>G, XM_005259152.2:c.2103C>T, XM_005259152.1:c.2103C>G, XM_005259152.1:c.2103C>T, XM_017027132.2:c.2229C>G, XM_017027132.2:c.2229C>T, XM_017027132.1:c.2229C>G, XM_017027132.1:c.2229C>T, XM_017027135.2:c.2091C>G, XM_017027135.2:c.2091C>T, XM_017027135.1:c.2091C>G, XM_017027135.1:c.2091C>T, XM_017027134.2:c.2097C>G, XM_017027134.2:c.2097C>T, XM_017027134.1:c.2097C>G, XM_017027134.1:c.2097C>T, XM_017027141.2:c.1890C>G, XM_017027141.2:c.1890C>T, XM_017027141.1:c.1890C>G, XM_017027141.1:c.1890C>T, XM_017027140.2:c.1890C>G, XM_017027140.2:c.1890C>T, XM_017027140.1:c.1890C>G, XM_017027140.1:c.1890C>T, XM_047439216.1:c.1890C>G, XM_047439216.1:c.1890C>T, XM_047439217.1:c.1764C>G, XM_047439217.1:c.1764C>T

                                    18.

                                    rs1473293212 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      19:46309179 (GRCh38)
                                      19:46812436 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:46309178:C:A
                                      Gene:
                                      HIF3A (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000019.10:g.46309179C>A, NC_000019.9:g.46812436C>A, NG_029679.1:g.17132C>A, NM_152794.4:c.584C>A, NM_152794.3:c.584C>A, NM_152795.4:c.590C>A, NM_152795.3:c.590C>A, NM_022462.4:c.383C>A, NM_152796.2:c.383C>A, XM_005259152.5:c.722C>A, XM_005259152.4:c.722C>A, XM_005259152.3:c.722C>A, XM_005259152.2:c.722C>A, XM_005259152.1:c.722C>A, XM_005259156.5:c.722C>A, XM_005259156.4:c.722C>A, XM_005259156.3:c.722C>A, XM_005259156.2:c.722C>A, XM_005259156.1:c.722C>A, XM_005259153.4:c.437C>A, XM_005259153.3:c.383C>A, XM_005259153.2:c.383C>A, XM_005259153.1:c.437C>A, XM_017027132.2:c.722C>A, XM_017027132.1:c.722C>A, XM_017027135.2:c.584C>A, XM_017027135.1:c.584C>A, XM_017027134.2:c.590C>A, XM_017027134.1:c.590C>A, XM_017027141.2:c.383C>A, XM_017027141.1:c.383C>A, XM_017027140.2:c.383C>A, XM_017027140.1:c.383C>A, XM_017027133.2:c.722C>A, XM_017027133.1:c.722C>A, XM_017027137.2:c.584C>A, XM_017027137.1:c.584C>A, XM_017027136.2:c.722C>A, XM_017027136.1:c.722C>A, XM_017027138.2:c.590C>A, XM_017027138.1:c.590C>A, XM_047439216.1:c.383C>A, XM_047439217.1:c.383C>A, XM_047439214.1:c.590C>A, XM_047439215.1:c.584C>A, XM_047439218.1:c.383C>A, XM_047439219.1:c.722C>A, NP_690007.1:p.Ala195Asp, NP_690008.2:p.Ala197Asp, NP_071907.4:p.Ala128Asp, NP_690009.1:p.Ala128Asp, XP_005259209.1:p.Ala241Asp, XP_005259213.1:p.Ala241Asp, XP_005259210.3:p.Ala146Asp, XP_016882621.1:p.Ala241Asp, XP_016882624.1:p.Ala195Asp, XP_016882623.1:p.Ala197Asp, XP_016882630.1:p.Ala128Asp, XP_016882629.1:p.Ala128Asp, XP_016882622.1:p.Ala241Asp, XP_016882626.1:p.Ala195Asp, XP_016882625.1:p.Ala241Asp, XP_016882627.1:p.Ala197Asp, XP_047295172.1:p.Ala128Asp, XP_047295173.1:p.Ala128Asp, XP_047295170.1:p.Ala197Asp, XP_047295171.1:p.Ala195Asp, XP_047295174.1:p.Ala128Asp, XP_047295175.1:p.Ala241Asp

                                      19.

                                      rs1472677472 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:46304057 (GRCh38)
                                        19:46807314 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:46304056:C:T
                                        Gene:
                                        HIF3A (Varview)
                                        Functional Consequence:
                                        synonymous_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000019/5 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.46304057C>T, NC_000019.9:g.46807314C>T, NG_029679.1:g.12010C>T, NM_152794.4:c.180C>T, NM_152794.3:c.180C>T, NM_152795.4:c.186C>T, NM_152795.3:c.186C>T, NM_022462.4:c.125C>T, NM_152796.2:c.125C>T, XM_005259152.5:c.318C>T, XM_005259152.4:c.318C>T, XM_005259152.3:c.318C>T, XM_005259152.2:c.318C>T, XM_005259152.1:c.318C>T, XM_005259156.5:c.318C>T, XM_005259156.4:c.318C>T, XM_005259156.3:c.318C>T, XM_005259156.2:c.318C>T, XM_005259156.1:c.318C>T, XM_005259153.4:c.179C>T, XM_005259153.3:c.125C>T, XM_005259153.2:c.125C>T, XM_005259153.1:c.179C>T, XM_017027132.2:c.318C>T, XM_017027132.1:c.318C>T, XM_017027135.2:c.180C>T, XM_017027135.1:c.180C>T, XM_017027134.2:c.186C>T, XM_017027134.1:c.186C>T, XM_017027141.2:c.125C>T, XM_017027141.1:c.125C>T, XM_017027140.2:c.125C>T, XM_017027140.1:c.125C>T, XM_017027133.2:c.318C>T, XM_017027133.1:c.318C>T, XM_017027137.2:c.180C>T, XM_017027137.1:c.180C>T, XM_017027136.2:c.318C>T, XM_017027136.1:c.318C>T, XM_017027138.2:c.186C>T, XM_017027138.1:c.186C>T, XM_047439216.1:c.125C>T, XM_047439217.1:c.125C>T, XM_047439214.1:c.186C>T, XM_047439215.1:c.180C>T, XM_047439218.1:c.125C>T, XM_047439219.1:c.318C>T, NP_071907.4:p.Ala42Val, NP_690009.1:p.Ala42Val, XP_005259210.3:p.Ala60Val, XP_016882630.1:p.Ala42Val, XP_016882629.1:p.Ala42Val, XP_047295172.1:p.Ala42Val, XP_047295173.1:p.Ala42Val, XP_047295174.1:p.Ala42Val

                                        20.

                                        rs1470856917 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:46298511 (GRCh38)
                                          19:46801768 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:46298510:G:A
                                          Gene:
                                          HIF3A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000021/3 (GnomAD)
                                          A=0.000023/6 (TOPMED)
                                          A=0.000026/3 (GnomAD_exomes)
                                          HGVS:

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