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 449

1.

rs1487717501 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    2:96551967 (GRCh38)
    2:97217704 (GRCh37)
    Canonical SPDI:
    NC_000002.12:96551966:G:T
    Gene:
    ARID5A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.96551967G>T, NC_000002.11:g.97217704G>T, XM_011510499.3:c.1469G>T, XM_011510499.2:c.1469G>T, XM_011510499.1:c.1469G>T, NM_212481.3:c.1439G>T, NM_212481.2:c.1439G>T, NM_212481.1:c.1439G>T, XM_017003183.2:c.1628G>T, XM_017003183.1:c.1628G>T, NM_001319085.2:c.1601G>T, NM_001319085.1:c.1601G>T, NM_001319087.2:c.1598G>T, NM_001319087.1:c.1598G>T, NM_001319094.2:c.947G>T, NM_001319094.1:c.947G>T, NM_006673.2:c.*1123G>T, NM_001319096.2:c.947G>T, NM_001319096.1:c.947G>T, NM_001319093.2:c.947G>T, NM_001319093.1:c.947G>T, XM_047443000.1:c.1628G>T, XM_047443002.1:c.1394G>T, XM_047443001.1:c.1469G>T, NM_001319092.1:c.1235G>T, XM_047443003.1:c.947G>T, NM_006673.1:c.947G>T, XP_011508801.1:p.Gly490Val, NP_997646.1:p.Gly480Val, XP_016858672.1:p.Gly543Val, NP_001306014.1:p.Gly534Val, NP_001306016.1:p.Gly533Val, NP_001306023.1:p.Gly316Val, NP_001306025.1:p.Gly316Val, NP_001306022.1:p.Gly316Val, XP_047298956.1:p.Gly543Val, XP_047298958.1:p.Gly465Val, XP_047298957.1:p.Gly490Val, NP_001306021.1:p.Gly412Val, XP_047298959.1:p.Gly316Val

    2.

    rs1487036270 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      2:96551329 (GRCh38)
      2:97217066 (GRCh37)
      Canonical SPDI:
      NC_000002.12:96551328:G:C
      Gene:
      ARID5A (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1486706622 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:96551785 (GRCh38)
        2:97217522 (GRCh37)
        Canonical SPDI:
        NC_000002.12:96551784:C:T
        Gene:
        ARID5A (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:

        4.

        rs1480980999 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          2:96552270 (GRCh38)
          2:97218007 (GRCh37)
          Canonical SPDI:
          NC_000002.12:96552269:C:A
          Gene:
          ARID5A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.96552270C>A, NC_000002.11:g.97218007C>A, XM_011510499.3:c.1772C>A, XM_011510499.2:c.1772C>A, XM_011510499.1:c.1772C>A, NM_212481.3:c.1742C>A, NM_212481.2:c.1742C>A, NM_212481.1:c.1742C>A, XM_017003183.2:c.1931C>A, XM_017003183.1:c.1931C>A, NM_001319085.2:c.1904C>A, NM_001319085.1:c.1904C>A, NM_001319087.2:c.1901C>A, NM_001319087.1:c.1901C>A, NM_001319094.2:c.1250C>A, NM_001319094.1:c.1250C>A, NM_006673.2:c.*1426C>A, NM_001319096.2:c.1250C>A, NM_001319096.1:c.1250C>A, NM_001319093.2:c.1250C>A, NM_001319093.1:c.1250C>A, XM_047443000.1:c.1931C>A, XM_047443002.1:c.1697C>A, XM_047443001.1:c.1772C>A, NM_001319092.1:c.1538C>A, XM_047443003.1:c.1250C>A, NM_006673.1:c.1250C>A, XP_011508801.1:p.Thr591Asn, NP_997646.1:p.Thr581Asn, XP_016858672.1:p.Thr644Asn, NP_001306014.1:p.Thr635Asn, NP_001306016.1:p.Thr634Asn, NP_001306023.1:p.Thr417Asn, NP_001306025.1:p.Thr417Asn, NP_001306022.1:p.Thr417Asn, XP_047298956.1:p.Thr644Asn, XP_047298958.1:p.Thr566Asn, XP_047298957.1:p.Thr591Asn, NP_001306021.1:p.Thr513Asn, XP_047298959.1:p.Thr417Asn

          5.

          rs1477793277 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:96551384 (GRCh38)
            2:97217121 (GRCh37)
            Canonical SPDI:
            NC_000002.12:96551383:C:T
            Gene:
            ARID5A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            HGVS:
            NC_000002.12:g.96551384C>T, NC_000002.11:g.97217121C>T, XM_011510499.3:c.886C>T, XM_011510499.2:c.886C>T, XM_011510499.1:c.886C>T, NM_212481.3:c.856C>T, NM_212481.2:c.856C>T, NM_212481.1:c.856C>T, XM_017003183.2:c.1045C>T, XM_017003183.1:c.1045C>T, NM_001319085.2:c.1018C>T, NM_001319085.1:c.1018C>T, NM_001319087.2:c.1015C>T, NM_001319087.1:c.1015C>T, NM_001319094.2:c.364C>T, NM_001319094.1:c.364C>T, NM_006673.2:c.*540C>T, NM_001319096.2:c.364C>T, NM_001319096.1:c.364C>T, NM_001319093.2:c.364C>T, NM_001319093.1:c.364C>T, XM_047443000.1:c.1045C>T, XM_047443002.1:c.811C>T, XM_047443001.1:c.886C>T, NM_001319092.1:c.652C>T, XM_047443003.1:c.364C>T, NM_006673.1:c.364C>T, XP_011508801.1:p.Pro296Ser, NP_997646.1:p.Pro286Ser, XP_016858672.1:p.Pro349Ser, NP_001306014.1:p.Pro340Ser, NP_001306016.1:p.Pro339Ser, NP_001306023.1:p.Pro122Ser, NP_001306025.1:p.Pro122Ser, NP_001306022.1:p.Pro122Ser, XP_047298956.1:p.Pro349Ser, XP_047298958.1:p.Pro271Ser, XP_047298957.1:p.Pro296Ser, NP_001306021.1:p.Pro218Ser, XP_047298959.1:p.Pro122Ser

            6.

            rs1477280422 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              2:96551396 (GRCh38)
              2:97217133 (GRCh37)
              Canonical SPDI:
              NC_000002.12:96551395:C:A,NC_000002.12:96551395:C:T
              Gene:
              ARID5A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000028/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              NC_000002.12:g.96551396C>A, NC_000002.12:g.96551396C>T, NC_000002.11:g.97217133C>A, NC_000002.11:g.97217133C>T, XM_011510499.3:c.898C>A, XM_011510499.3:c.898C>T, XM_011510499.2:c.898C>A, XM_011510499.2:c.898C>T, XM_011510499.1:c.898C>A, XM_011510499.1:c.898C>T, NM_212481.3:c.868C>A, NM_212481.3:c.868C>T, NM_212481.2:c.868C>A, NM_212481.2:c.868C>T, NM_212481.1:c.868C>A, NM_212481.1:c.868C>T, XM_017003183.2:c.1057C>A, XM_017003183.2:c.1057C>T, XM_017003183.1:c.1057C>A, XM_017003183.1:c.1057C>T, NM_001319085.2:c.1030C>A, NM_001319085.2:c.1030C>T, NM_001319085.1:c.1030C>A, NM_001319085.1:c.1030C>T, NM_001319087.2:c.1027C>A, NM_001319087.2:c.1027C>T, NM_001319087.1:c.1027C>A, NM_001319087.1:c.1027C>T, NM_001319094.2:c.376C>A, NM_001319094.2:c.376C>T, NM_001319094.1:c.376C>A, NM_001319094.1:c.376C>T, NM_006673.2:c.*552C>A, NM_006673.2:c.*552C>T, NM_001319096.2:c.376C>A, NM_001319096.2:c.376C>T, NM_001319096.1:c.376C>A, NM_001319096.1:c.376C>T, NM_001319093.2:c.376C>A, NM_001319093.2:c.376C>T, NM_001319093.1:c.376C>A, NM_001319093.1:c.376C>T, XM_047443000.1:c.1057C>A, XM_047443000.1:c.1057C>T, XM_047443002.1:c.823C>A, XM_047443002.1:c.823C>T, XM_047443001.1:c.898C>A, XM_047443001.1:c.898C>T, NM_001319092.1:c.664C>A, NM_001319092.1:c.664C>T, XM_047443003.1:c.376C>A, XM_047443003.1:c.376C>T, NM_006673.1:c.376C>A, NM_006673.1:c.376C>T, XP_011508801.1:p.Pro300Thr, XP_011508801.1:p.Pro300Ser, NP_997646.1:p.Pro290Thr, NP_997646.1:p.Pro290Ser, XP_016858672.1:p.Pro353Thr, XP_016858672.1:p.Pro353Ser, NP_001306014.1:p.Pro344Thr, NP_001306014.1:p.Pro344Ser, NP_001306016.1:p.Pro343Thr, NP_001306016.1:p.Pro343Ser, NP_001306023.1:p.Pro126Thr, NP_001306023.1:p.Pro126Ser, NP_001306025.1:p.Pro126Thr, NP_001306025.1:p.Pro126Ser, NP_001306022.1:p.Pro126Thr, NP_001306022.1:p.Pro126Ser, XP_047298956.1:p.Pro353Thr, XP_047298956.1:p.Pro353Ser, XP_047298958.1:p.Pro275Thr, XP_047298958.1:p.Pro275Ser, XP_047298957.1:p.Pro300Thr, XP_047298957.1:p.Pro300Ser, NP_001306021.1:p.Pro222Thr, NP_001306021.1:p.Pro222Ser, XP_047298959.1:p.Pro126Thr, XP_047298959.1:p.Pro126Ser

              7.

              rs1477169874 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:96552117 (GRCh38)
                2:97217854 (GRCh37)
                Canonical SPDI:
                NC_000002.12:96552116:T:C
                Gene:
                ARID5A (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.96552117T>C, NC_000002.11:g.97217854T>C, XM_011510499.3:c.1619T>C, XM_011510499.2:c.1619T>C, XM_011510499.1:c.1619T>C, NM_212481.3:c.1589T>C, NM_212481.2:c.1589T>C, NM_212481.1:c.1589T>C, XM_017003183.2:c.1778T>C, XM_017003183.1:c.1778T>C, NM_001319085.2:c.1751T>C, NM_001319085.1:c.1751T>C, NM_001319087.2:c.1748T>C, NM_001319087.1:c.1748T>C, NM_001319094.2:c.1097T>C, NM_001319094.1:c.1097T>C, NM_006673.2:c.*1273T>C, NM_001319096.2:c.1097T>C, NM_001319096.1:c.1097T>C, NM_001319093.2:c.1097T>C, NM_001319093.1:c.1097T>C, XM_047443000.1:c.1778T>C, XM_047443002.1:c.1544T>C, XM_047443001.1:c.1619T>C, NM_001319092.1:c.1385T>C, XM_047443003.1:c.1097T>C, NM_006673.1:c.1097T>C, XP_011508801.1:p.Val540Ala, NP_997646.1:p.Val530Ala, XP_016858672.1:p.Val593Ala, NP_001306014.1:p.Val584Ala, NP_001306016.1:p.Val583Ala, NP_001306023.1:p.Val366Ala, NP_001306025.1:p.Val366Ala, NP_001306022.1:p.Val366Ala, XP_047298956.1:p.Val593Ala, XP_047298958.1:p.Val515Ala, XP_047298957.1:p.Val540Ala, NP_001306021.1:p.Val462Ala, XP_047298959.1:p.Val366Ala

                8.

                rs1475324095 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GCTGAACTTC>- [Show Flanks]
                  Chromosome:
                  2:96552052 (GRCh38)
                  2:97217789 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:96552050:CGCTGAACTTC:C
                  Gene:
                  ARID5A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.96552052_96552061del, NC_000002.11:g.97217789_97217798del, XM_011510499.3:c.1554_1563del, XM_011510499.2:c.1554_1563del, XM_011510499.1:c.1554_1563del, NM_212481.3:c.1524_1533del, NM_212481.2:c.1524_1533del, NM_212481.1:c.1524_1533del, XM_017003183.2:c.1713_1722del, XM_017003183.1:c.1713_1722del, NM_001319085.2:c.1686_1695del, NM_001319085.1:c.1686_1695del, NM_001319087.2:c.1683_1692del, NM_001319087.1:c.1683_1692del, NM_001319094.2:c.1032_1041del, NM_001319094.1:c.1032_1041del, NM_006673.2:c.*1208_*1217del, NM_001319096.2:c.1032_1041del, NM_001319096.1:c.1032_1041del, NM_001319093.2:c.1032_1041del, NM_001319093.1:c.1032_1041del, XM_047443000.1:c.1713_1722del, XM_047443002.1:c.1479_1488del, XM_047443001.1:c.1554_1563del, NM_001319092.1:c.1320_1329del, XM_047443003.1:c.1032_1041del, NM_006673.1:c.1032_1041del, XP_011508801.1:p.Asn520fs, NP_997646.1:p.Asn510fs, XP_016858672.1:p.Asn573fs, NP_001306014.1:p.Asn564fs, NP_001306016.1:p.Asn563fs, NP_001306023.1:p.Asn346fs, NP_001306025.1:p.Asn346fs, NP_001306022.1:p.Asn346fs, XP_047298956.1:p.Asn573fs, XP_047298958.1:p.Asn495fs, XP_047298957.1:p.Asn520fs, NP_001306021.1:p.Asn442fs, XP_047298959.1:p.Asn346fs

                  9.

                  rs1471755037 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    2:96551752 (GRCh38)
                    2:97217489 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:96551751:C:G
                    Gene:
                    ARID5A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000002.12:g.96551752C>G, NC_000002.11:g.97217489C>G, XM_011510499.3:c.1254C>G, XM_011510499.2:c.1254C>G, XM_011510499.1:c.1254C>G, NM_212481.3:c.1224C>G, NM_212481.2:c.1224C>G, NM_212481.1:c.1224C>G, XM_017003183.2:c.1413C>G, XM_017003183.1:c.1413C>G, NM_001319085.2:c.1386C>G, NM_001319085.1:c.1386C>G, NM_001319087.2:c.1383C>G, NM_001319087.1:c.1383C>G, NM_001319094.2:c.732C>G, NM_001319094.1:c.732C>G, NM_006673.2:c.*908C>G, NM_001319096.2:c.732C>G, NM_001319096.1:c.732C>G, NM_001319093.2:c.732C>G, NM_001319093.1:c.732C>G, XM_047443000.1:c.1413C>G, XM_047443002.1:c.1179C>G, XM_047443001.1:c.1254C>G, NM_001319092.1:c.1020C>G, XM_047443003.1:c.732C>G, NM_006673.1:c.732C>G, XP_011508801.1:p.Ile418Met, NP_997646.1:p.Ile408Met, XP_016858672.1:p.Ile471Met, NP_001306014.1:p.Ile462Met, NP_001306016.1:p.Ile461Met, NP_001306023.1:p.Ile244Met, NP_001306025.1:p.Ile244Met, NP_001306022.1:p.Ile244Met, XP_047298956.1:p.Ile471Met, XP_047298958.1:p.Ile393Met, XP_047298957.1:p.Ile418Met, NP_001306021.1:p.Ile340Met, XP_047298959.1:p.Ile244Met

                    10.

                    rs1470165570 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      2:96551540 (GRCh38)
                      2:97217277 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:96551539:C:G
                      Gene:
                      ARID5A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000002.12:g.96551540C>G, NC_000002.11:g.97217277C>G, XM_011510499.3:c.1042C>G, XM_011510499.2:c.1042C>G, XM_011510499.1:c.1042C>G, NM_212481.3:c.1012C>G, NM_212481.2:c.1012C>G, NM_212481.1:c.1012C>G, XM_017003183.2:c.1201C>G, XM_017003183.1:c.1201C>G, NM_001319085.2:c.1174C>G, NM_001319085.1:c.1174C>G, NM_001319087.2:c.1171C>G, NM_001319087.1:c.1171C>G, NM_001319094.2:c.520C>G, NM_001319094.1:c.520C>G, NM_006673.2:c.*696C>G, NM_001319096.2:c.520C>G, NM_001319096.1:c.520C>G, NM_001319093.2:c.520C>G, NM_001319093.1:c.520C>G, XM_047443000.1:c.1201C>G, XM_047443002.1:c.967C>G, XM_047443001.1:c.1042C>G, NM_001319092.1:c.808C>G, XM_047443003.1:c.520C>G, NM_006673.1:c.520C>G, XP_011508801.1:p.Pro348Ala, NP_997646.1:p.Pro338Ala, XP_016858672.1:p.Pro401Ala, NP_001306014.1:p.Pro392Ala, NP_001306016.1:p.Pro391Ala, NP_001306023.1:p.Pro174Ala, NP_001306025.1:p.Pro174Ala, NP_001306022.1:p.Pro174Ala, XP_047298956.1:p.Pro401Ala, XP_047298958.1:p.Pro323Ala, XP_047298957.1:p.Pro348Ala, NP_001306021.1:p.Pro270Ala, XP_047298959.1:p.Pro174Ala

                      11.

                      rs1468798626 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:96551836 (GRCh38)
                        2:97217573 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:96551835:C:T
                        Gene:
                        ARID5A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000009/2 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1468759045 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ACCGGC>- [Show Flanks]
                          Chromosome:
                          2:96551457 (GRCh38)
                          2:97217194 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:96551453:GGCACCGGC:GGC
                          Gene:
                          ARID5A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,inframe_deletion
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GGC=0./0 (ALFA)
                          -=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000002.12:g.96551457_96551462del, NC_000002.11:g.97217194_97217199del, XM_011510499.3:c.959_964del, XM_011510499.2:c.959_964del, XM_011510499.1:c.959_964del, NM_212481.3:c.929_934del, NM_212481.2:c.929_934del, NM_212481.1:c.929_934del, XM_017003183.2:c.1118_1123del, XM_017003183.1:c.1118_1123del, NM_001319085.2:c.1091_1096del, NM_001319085.1:c.1091_1096del, NM_001319087.2:c.1088_1093del, NM_001319087.1:c.1088_1093del, NM_001319094.2:c.437_442del, NM_001319094.1:c.437_442del, NM_006673.2:c.*613_*618del, NM_001319096.2:c.437_442del, NM_001319096.1:c.437_442del, NM_001319093.2:c.437_442del, NM_001319093.1:c.437_442del, XM_047443000.1:c.1118_1123del, XM_047443002.1:c.884_889del, XM_047443001.1:c.959_964del, NM_001319092.1:c.725_730del, XM_047443003.1:c.437_442del, NM_006673.1:c.437_442del, XP_011508801.1:p.His320_Arg321del, NP_997646.1:p.His310_Arg311del, XP_016858672.1:p.His373_Arg374del, NP_001306014.1:p.His364_Arg365del, NP_001306016.1:p.His363_Arg364del, NP_001306023.1:p.His146_Arg147del, NP_001306025.1:p.His146_Arg147del, NP_001306022.1:p.His146_Arg147del, XP_047298956.1:p.His373_Arg374del, XP_047298958.1:p.His295_Arg296del, XP_047298957.1:p.His320_Arg321del, NP_001306021.1:p.His242_Arg243del, XP_047298959.1:p.His146_Arg147del

                          13.

                          rs1466965397 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:96550687 (GRCh38)
                            2:97216424 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:96550686:C:T
                            Gene:
                            ARID5A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000002.12:g.96550687C>T, NC_000002.11:g.97216424C>T, XM_011510499.3:c.554C>T, XM_011510499.2:c.554C>T, XM_011510499.1:c.554C>T, NM_212481.3:c.524C>T, NM_212481.2:c.524C>T, NM_212481.1:c.524C>T, XM_017003183.2:c.713C>T, XM_017003183.1:c.713C>T, NM_001319085.2:c.686C>T, NM_001319085.1:c.686C>T, NM_001319087.2:c.683C>T, NM_001319087.1:c.683C>T, NM_001319094.2:c.32C>T, NM_001319094.1:c.32C>T, NM_006673.2:c.*208C>T, NM_001319096.2:c.32C>T, NM_001319096.1:c.32C>T, NM_001319093.2:c.32C>T, NM_001319093.1:c.32C>T, XM_047443000.1:c.713C>T, XM_047443002.1:c.479C>T, XM_047443001.1:c.554C>T, NM_001319092.1:c.320C>T, XM_047443003.1:c.32C>T, NM_006673.1:c.32C>T, XP_011508801.1:p.Ala185Val, NP_997646.1:p.Ala175Val, XP_016858672.1:p.Ala238Val, NP_001306014.1:p.Ala229Val, NP_001306016.1:p.Ala228Val, NP_001306023.1:p.Ala11Val, NP_001306025.1:p.Ala11Val, NP_001306022.1:p.Ala11Val, XP_047298956.1:p.Ala238Val, XP_047298958.1:p.Ala160Val, XP_047298957.1:p.Ala185Val, NP_001306021.1:p.Ala107Val, XP_047298959.1:p.Ala11Val

                            14.

                            rs1465401929 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:96551290 (GRCh38)
                              2:97217027 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:96551289:C:T
                              Gene:
                              ARID5A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1463029845 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:96552286 (GRCh38)
                                2:97218023 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:96552285:C:T
                                Gene:
                                ARID5A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1456640291 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:96551617 (GRCh38)
                                  2:97217354 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:96551616:C:T
                                  Gene:
                                  ARID5A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1455760088 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:96551469 (GRCh38)
                                    2:97217206 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:96551468:C:T
                                    Gene:
                                    ARID5A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000002.12:g.96551469C>T, NC_000002.11:g.97217206C>T, XM_011510499.3:c.971C>T, XM_011510499.2:c.971C>T, XM_011510499.1:c.971C>T, NM_212481.3:c.941C>T, NM_212481.2:c.941C>T, NM_212481.1:c.941C>T, XM_017003183.2:c.1130C>T, XM_017003183.1:c.1130C>T, NM_001319085.2:c.1103C>T, NM_001319085.1:c.1103C>T, NM_001319087.2:c.1100C>T, NM_001319087.1:c.1100C>T, NM_001319094.2:c.449C>T, NM_001319094.1:c.449C>T, NM_006673.2:c.*625C>T, NM_001319096.2:c.449C>T, NM_001319096.1:c.449C>T, NM_001319093.2:c.449C>T, NM_001319093.1:c.449C>T, XM_047443000.1:c.1130C>T, XM_047443002.1:c.896C>T, XM_047443001.1:c.971C>T, NM_001319092.1:c.737C>T, XM_047443003.1:c.449C>T, NM_006673.1:c.449C>T, XP_011508801.1:p.Pro324Leu, NP_997646.1:p.Pro314Leu, XP_016858672.1:p.Pro377Leu, NP_001306014.1:p.Pro368Leu, NP_001306016.1:p.Pro367Leu, NP_001306023.1:p.Pro150Leu, NP_001306025.1:p.Pro150Leu, NP_001306022.1:p.Pro150Leu, XP_047298956.1:p.Pro377Leu, XP_047298958.1:p.Pro299Leu, XP_047298957.1:p.Pro324Leu, NP_001306021.1:p.Pro246Leu, XP_047298959.1:p.Pro150Leu

                                    18.

                                    rs1454544299 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      2:96551572 (GRCh38)
                                      2:97217309 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:96551571:C:A
                                      Gene:
                                      ARID5A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000019/5 (TOPMED)
                                      A=0.000021/3 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1454458443 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:96551791 (GRCh38)
                                        2:97217528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:96551790:G:A
                                        Gene:
                                        ARID5A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.96551791G>A, NC_000002.11:g.97217528G>A, XM_011510499.3:c.1293G>A, XM_011510499.2:c.1293G>A, XM_011510499.1:c.1293G>A, NM_212481.3:c.1263G>A, NM_212481.2:c.1263G>A, NM_212481.1:c.1263G>A, XM_017003183.2:c.1452G>A, XM_017003183.1:c.1452G>A, NM_001319085.2:c.1425G>A, NM_001319085.1:c.1425G>A, NM_001319087.2:c.1422G>A, NM_001319087.1:c.1422G>A, NM_001319094.2:c.771G>A, NM_001319094.1:c.771G>A, NM_006673.2:c.*947G>A, NM_001319096.2:c.771G>A, NM_001319096.1:c.771G>A, NM_001319093.2:c.771G>A, NM_001319093.1:c.771G>A, XM_047443000.1:c.1452G>A, XM_047443002.1:c.1218G>A, XM_047443001.1:c.1293G>A, NM_001319092.1:c.1059G>A, XM_047443003.1:c.771G>A, NM_006673.1:c.771G>A, XP_011508801.1:p.Met431Ile, NP_997646.1:p.Met421Ile, XP_016858672.1:p.Met484Ile, NP_001306014.1:p.Met475Ile, NP_001306016.1:p.Met474Ile, NP_001306023.1:p.Met257Ile, NP_001306025.1:p.Met257Ile, NP_001306022.1:p.Met257Ile, XP_047298956.1:p.Met484Ile, XP_047298958.1:p.Met406Ile, XP_047298957.1:p.Met431Ile, NP_001306021.1:p.Met353Ile, XP_047298959.1:p.Met257Ile

                                        20.

                                        rs1448518106 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:96551344 (GRCh38)
                                          2:97217081 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:96551343:C:T
                                          Gene:
                                          ARID5A (Varview)
                                          Functional Consequence:
                                          synonymous_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:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...