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Links from Protein

Items: 1 to 20 of 521

2.

rs1489920793 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    14:64268854 (GRCh38)
    14:64735572 (GRCh37)
    Canonical SPDI:
    NC_000014.9:64268853:C:G,NC_000014.9:64268853:C:T
    Gene:
    ESR2 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    T=0.000035/1 (TOMMO)
    HGVS:
    NC_000014.9:g.64268854C>G, NC_000014.9:g.64268854C>T, NC_000014.8:g.64735572C>G, NC_000014.8:g.64735572C>T, NG_011535.1:g.74697G>C, NG_011535.1:g.74697G>A, NM_001437.3:c.593G>C, NM_001437.3:c.593G>A, NM_001437.2:c.593G>C, NM_001437.2:c.593G>A, NM_001291712.2:c.593G>C, NM_001291712.2:c.593G>A, NM_001291712.1:c.593G>C, NM_001291712.1:c.593G>A, NR_073496.2:n.1399G>C, NR_073496.2:n.1399G>A, NR_073496.1:n.1336G>C, NR_073496.1:n.1336G>A, NM_001291723.1:c.593G>C, NM_001291723.1:c.593G>A, NM_001040275.1:c.593G>C, NM_001040275.1:c.593G>A, NM_001214902.1:c.593G>C, NM_001214902.1:c.593G>A, NM_001271876.1:c.593G>C, NM_001271876.1:c.593G>A, NR_073497.1:n.510G>C, NR_073497.1:n.510G>A, NM_001271877.1:c.593G>C, NM_001271877.1:c.593G>A, XM_047431076.1:c.593G>C, XM_047431076.1:c.593G>A, XM_047431077.1:c.593G>C, XM_047431077.1:c.593G>A, NR_073505.1:n.1336G>C, NR_073505.1:n.1336G>A, NM_001040276.1:c.593G>C, NM_001040276.1:c.593G>A, XM_047431078.1:c.593G>C, XM_047431078.1:c.593G>A, NM_001214903.1:c.593G>C, NM_001214903.1:c.593G>A, NP_001428.1:p.Arg198Pro, NP_001428.1:p.Arg198His, NP_001278641.1:p.Arg198Pro, NP_001278641.1:p.Arg198His, NP_001278652.1:p.Arg198Pro, NP_001278652.1:p.Arg198His, NP_001035365.1:p.Arg198Pro, NP_001035365.1:p.Arg198His, NP_001201831.1:p.Arg198Pro, NP_001201831.1:p.Arg198His, NP_001258805.1:p.Arg198Pro, NP_001258805.1:p.Arg198His, NP_001258806.1:p.Arg198Pro, NP_001258806.1:p.Arg198His, XP_047287032.1:p.Arg198Pro, XP_047287032.1:p.Arg198His, XP_047287033.1:p.Arg198Pro, XP_047287033.1:p.Arg198His, XP_047287034.1:p.Arg198Pro, XP_047287034.1:p.Arg198His
    3.

    rs1488456467 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      14:64233152 (GRCh38)
      14:64699870 (GRCh37)
      Canonical SPDI:
      NC_000014.9:64233151:G:A,NC_000014.9:64233151:G:T
      Gene:
      ESR2 (Varview), LOC124903328 (Varview)
      Functional Consequence:
      synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      7.

      rs1481617898 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:64233227 (GRCh38)
        14:64699945 (GRCh37)
        Canonical SPDI:
        NC_000014.9:64233226:G:A
        Gene:
        ESR2 (Varview), LOC124903328 (Varview)
        Functional Consequence:
        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000019/5 (TOPMED)
        A=0.000021/3 (GnomAD)
        A=0.000035/1 (TOMMO)
        HGVS:
        8.

        rs1481242577 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:64260591 (GRCh38)
          14:64727309 (GRCh37)
          Canonical SPDI:
          NC_000014.9:64260590:G:A
          Gene:
          ESR2 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          9.
          11.

          rs1477969709 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:64233225 (GRCh38)
            14:64699943 (GRCh37)
            Canonical SPDI:
            NC_000014.9:64233224:C:T
            Gene:
            ESR2 (Varview), LOC124903328 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            14.

            rs1473211508 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              14:64282650 (GRCh38)
              14:64749368 (GRCh37)
              Canonical SPDI:
              NC_000014.9:64282649:C:T
              Gene:
              ESR2 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              15.

              rs1472743418 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                14:64280050 (GRCh38)
                14:64746768 (GRCh37)
                Canonical SPDI:
                NC_000014.9:64280049:C:A,NC_000014.9:64280049:C:T
                Gene:
                ESR2 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000015/4 (TOPMED)
                HGVS:
                NC_000014.9:g.64280050C>A, NC_000014.9:g.64280050C>T, NC_000014.8:g.64746768C>A, NC_000014.8:g.64746768C>T, NG_011535.1:g.63501G>T, NG_011535.1:g.63501G>A, NM_001437.3:c.466G>T, NM_001437.3:c.466G>A, NM_001437.2:c.466G>T, NM_001437.2:c.466G>A, NM_001291712.2:c.466G>T, NM_001291712.2:c.466G>A, NM_001291712.1:c.466G>T, NM_001291712.1:c.466G>A, NR_073496.2:n.1272G>T, NR_073496.2:n.1272G>A, NR_073496.1:n.1209G>T, NR_073496.1:n.1209G>A, NM_001291723.1:c.466G>T, NM_001291723.1:c.466G>A, NM_001040275.1:c.466G>T, NM_001040275.1:c.466G>A, NM_001214902.1:c.466G>T, NM_001214902.1:c.466G>A, NM_001271876.1:c.466G>T, NM_001271876.1:c.466G>A, NM_001271877.1:c.466G>T, NM_001271877.1:c.466G>A, XM_047431076.1:c.466G>T, XM_047431076.1:c.466G>A, XM_047431077.1:c.466G>T, XM_047431077.1:c.466G>A, NR_073505.1:n.1209G>T, NR_073505.1:n.1209G>A, NM_001040276.1:c.466G>T, NM_001040276.1:c.466G>A, XM_047431078.1:c.466G>T, XM_047431078.1:c.466G>A, NM_001214903.1:c.466G>T, NM_001214903.1:c.466G>A, NP_001428.1:p.Ala156Ser, NP_001428.1:p.Ala156Thr, NP_001278641.1:p.Ala156Ser, NP_001278641.1:p.Ala156Thr, NP_001278652.1:p.Ala156Ser, NP_001278652.1:p.Ala156Thr, NP_001035365.1:p.Ala156Ser, NP_001035365.1:p.Ala156Thr, NP_001201831.1:p.Ala156Ser, NP_001201831.1:p.Ala156Thr, NP_001258805.1:p.Ala156Ser, NP_001258805.1:p.Ala156Thr, NP_001258806.1:p.Ala156Ser, NP_001258806.1:p.Ala156Thr, XP_047287032.1:p.Ala156Ser, XP_047287032.1:p.Ala156Thr, XP_047287033.1:p.Ala156Ser, XP_047287033.1:p.Ala156Thr, XP_047287034.1:p.Ala156Ser, XP_047287034.1:p.Ala156Thr
                16.

                rs1466727924 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  14:64282647 (GRCh38)
                  14:64749365 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:64282646:T:C
                  Gene:
                  ESR2 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000019/5 (TOPMED)
                  HGVS:
                  17.

                  rs1464923170 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:64282782 (GRCh38)
                    14:64749500 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:64282781:C:T
                    Gene:
                    ESR2 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000111/1 (ALFA)
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:

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