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 740

1.

rs1490897073 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    21:36937303 (GRCh38)
    21:38309603 (GRCh37)
    Canonical SPDI:
    NC_000021.9:36937302:A:T
    Gene:
    HLCS (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000021.9:g.36937303A>T, NC_000021.8:g.38309603A>T, NG_016193.2:g.58092T>A, NM_000411.8:c.142T>A, NM_000411.7:c.142T>A, NM_000411.6:c.142T>A, NM_001242784.3:c.142T>A, NM_001242784.2:c.142T>A, NM_001242784.1:c.142T>A, NM_001242785.2:c.142T>A, NM_001242785.1:c.142T>A, NR_148020.2:n.442T>A, NR_148020.1:n.625T>A, NM_001352516.2:c.142T>A, NM_001352516.1:c.142T>A, NM_001352514.2:c.583T>A, NM_001352514.1:c.583T>A, NM_001352518.2:c.142T>A, NM_001352518.1:c.142T>A, NM_001352515.2:c.142T>A, NM_001352515.1:c.142T>A, NR_148021.1:n.599T>A, NM_001352517.1:c.142T>A, XM_011529540.3:c.583T>A, XM_011529540.2:c.583T>A, XM_011529540.1:c.583T>A, XM_024452065.2:c.-30T>A, XM_024452065.1:c.-30T>A, XM_047440752.1:c.427T>A, XM_047440754.1:c.142T>A, XM_047440756.1:c.142T>A, XM_047440753.1:c.583T>A, XM_047440755.1:c.583T>A, NP_000402.3:p.Ser48Thr, NP_001229713.1:p.Ser48Thr, NP_001229714.1:p.Ser48Thr, NP_001339445.1:p.Ser48Thr, NP_001339443.1:p.Ser195Thr, NP_001339447.1:p.Ser48Thr, NP_001339444.1:p.Ser48Thr, NP_001339446.1:p.Ser48Thr, XP_011527842.1:p.Ser195Thr, XP_047296708.1:p.Ser143Thr, XP_047296710.1:p.Ser48Thr, XP_047296712.1:p.Ser48Thr, XP_047296709.1:p.Ser195Thr, XP_047296711.1:p.Ser195Thr

    2.

    rs1490891842 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      21:36930421 (GRCh38)
      21:38302721 (GRCh37)
      Canonical SPDI:
      NC_000021.9:36930420:G:C
      Gene:
      HLCS (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000021.9:g.36930421G>C, NC_000021.8:g.38302721G>C, NG_016193.2:g.64974C>G, NM_000411.8:c.1009C>G, NM_000411.7:c.1009C>G, NM_000411.6:c.1009C>G, NM_001242784.3:c.1009C>G, NM_001242784.2:c.1009C>G, NM_001242784.1:c.1009C>G, NM_001242785.2:c.1009C>G, NM_001242785.1:c.1009C>G, NR_148020.2:n.1309C>G, NR_148020.1:n.1492C>G, NM_001352516.2:c.1009C>G, NM_001352516.1:c.1009C>G, NM_001352514.2:c.1450C>G, NM_001352514.1:c.1450C>G, NM_001352518.2:c.1009C>G, NM_001352518.1:c.1009C>G, NM_001352515.2:c.1009C>G, NM_001352515.1:c.1009C>G, NR_148021.1:n.1466C>G, NM_001352517.1:c.1009C>G, XM_011529540.3:c.1450C>G, XM_011529540.2:c.1450C>G, XM_011529540.1:c.1450C>G, XM_024452065.2:c.838C>G, XM_024452065.1:c.838C>G, XM_047440752.1:c.1294C>G, XM_047440754.1:c.1009C>G, XM_047440756.1:c.1009C>G, XM_047440753.1:c.1450C>G, XM_047440755.1:c.1450C>G, NP_000402.3:p.Leu337Val, NP_001229713.1:p.Leu337Val, NP_001229714.1:p.Leu337Val, NP_001339445.1:p.Leu337Val, NP_001339443.1:p.Leu484Val, NP_001339447.1:p.Leu337Val, NP_001339444.1:p.Leu337Val, NP_001339446.1:p.Leu337Val, XP_011527842.1:p.Leu484Val, XP_024307833.1:p.Leu280Val, XP_047296708.1:p.Leu432Val, XP_047296710.1:p.Leu337Val, XP_047296712.1:p.Leu337Val, XP_047296709.1:p.Leu484Val, XP_047296711.1:p.Leu484Val

      3.

      rs1487718304 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        21:36937188 (GRCh38)
        21:38309488 (GRCh37)
        Canonical SPDI:
        NC_000021.9:36937187:G:T
        Gene:
        HLCS (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000021.9:g.36937188G>T, NC_000021.8:g.38309488G>T, NG_016193.2:g.58207C>A, NM_000411.8:c.257C>A, NM_000411.7:c.257C>A, NM_000411.6:c.257C>A, NM_001242784.3:c.257C>A, NM_001242784.2:c.257C>A, NM_001242784.1:c.257C>A, NM_001242785.2:c.257C>A, NM_001242785.1:c.257C>A, NR_148020.2:n.557C>A, NR_148020.1:n.740C>A, NM_001352516.2:c.257C>A, NM_001352516.1:c.257C>A, NM_001352514.2:c.698C>A, NM_001352514.1:c.698C>A, NM_001352518.2:c.257C>A, NM_001352518.1:c.257C>A, NM_001352515.2:c.257C>A, NM_001352515.1:c.257C>A, NR_148021.1:n.714C>A, NM_001352517.1:c.257C>A, XM_011529540.3:c.698C>A, XM_011529540.2:c.698C>A, XM_011529540.1:c.698C>A, XM_024452065.2:c.86C>A, XM_024452065.1:c.86C>A, XM_047440752.1:c.542C>A, XM_047440754.1:c.257C>A, XM_047440756.1:c.257C>A, XM_047440753.1:c.698C>A, XM_047440755.1:c.698C>A, NP_000402.3:p.Ala86Asp, NP_001229713.1:p.Ala86Asp, NP_001229714.1:p.Ala86Asp, NP_001339445.1:p.Ala86Asp, NP_001339443.1:p.Ala233Asp, NP_001339447.1:p.Ala86Asp, NP_001339444.1:p.Ala86Asp, NP_001339446.1:p.Ala86Asp, XP_011527842.1:p.Ala233Asp, XP_024307833.1:p.Ala29Asp, XP_047296708.1:p.Ala181Asp, XP_047296710.1:p.Ala86Asp, XP_047296712.1:p.Ala86Asp, XP_047296709.1:p.Ala233Asp, XP_047296711.1:p.Ala233Asp

        4.

        rs1486700780 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          21:36765032 (GRCh38)
          21:38137333 (GRCh37)
          Canonical SPDI:
          NC_000021.9:36765031:T:G
          Gene:
          HLCS (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1485943264 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            21:36756655 (GRCh38)
            21:38128956 (GRCh37)
            Canonical SPDI:
            NC_000021.9:36756654:T:C
            Gene:
            HLCS (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1484525748 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              21:36896925 (GRCh38)
              21:38269225 (GRCh37)
              Canonical SPDI:
              NC_000021.9:36896924:G:A
              Gene:
              HLCS (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000021.9:g.36896925G>A, NC_000021.8:g.38269225G>A, NG_016193.2:g.98470C>T, NM_000411.8:c.1386C>T, NM_000411.7:c.1386C>T, NM_000411.6:c.1386C>T, NM_001242784.3:c.1386C>T, NM_001242784.2:c.1386C>T, NM_001242784.1:c.1386C>T, NM_001242785.2:c.1386C>T, NM_001242785.1:c.1386C>T, NR_148020.2:n.1686C>T, NR_148020.1:n.1869C>T, NM_001352516.2:c.1386C>T, NM_001352516.1:c.1386C>T, NM_001352514.2:c.1827C>T, NM_001352514.1:c.1827C>T, NM_001352518.2:c.1386C>T, NM_001352518.1:c.1386C>T, NM_001352515.2:c.1386C>T, NM_001352515.1:c.1386C>T, NR_148021.1:n.1843C>T, NM_001352517.1:c.1386C>T, XM_011529540.3:c.1827C>T, XM_011529540.2:c.1827C>T, XM_011529540.1:c.1827C>T, XM_024452065.2:c.1215C>T, XM_024452065.1:c.1215C>T, XM_047440752.1:c.1671C>T, XM_047440754.1:c.1386C>T, XM_047440756.1:c.1386C>T, XM_047440753.1:c.1827C>T

              7.

              rs1482978707 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AA>- [Show Flanks]
                Chromosome:
                21:36754315 (GRCh38)
                21:38126616 (GRCh37)
                Canonical SPDI:
                NC_000021.9:36754314:AA:
                Gene:
                HLCS (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.36754315_36754316del, NC_000021.8:g.38126616_38126617del, NG_016193.2:g.241079_241080del, NM_000411.8:c.2111_2112del, NM_000411.7:c.2111_2112del, NM_000411.6:c.2111_2112del, NM_001242784.3:c.2111_2112del, NM_001242784.2:c.2111_2112del, NM_001242784.1:c.2111_2112del, NM_001242785.2:c.2111_2112del, NM_001242785.1:c.2111_2112del, NR_148020.2:n.2636_2637del, NR_148020.1:n.2819_2820del, NM_001352516.2:c.2111_2112del, NM_001352516.1:c.2111_2112del, NM_001352514.2:c.2552_2553del, NM_001352514.1:c.2552_2553del, NM_001352518.2:c.2111_2112del, NM_001352518.1:c.2111_2112del, NM_001352515.2:c.2111_2112del, NM_001352515.1:c.2111_2112del, NR_148021.1:n.2793_2794del, NM_001352517.1:c.2111_2112del, XM_024452065.2:c.1940_1941del, XM_024452065.1:c.1940_1941del, XM_047440752.1:c.2396_2397del, XM_047440754.1:c.2111_2112del, NP_000402.3:p.Val704fs, NP_001229713.1:p.Val704fs, NP_001229714.1:p.Val704fs, NP_001339445.1:p.Val704fs, NP_001339443.1:p.Val851fs, NP_001339447.1:p.Val704fs, NP_001339444.1:p.Val704fs, NP_001339446.1:p.Val704fs, XP_024307833.1:p.Val647fs, XP_047296708.1:p.Val799fs, XP_047296710.1:p.Val704fs

                8.

                rs1481968221 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  21:36936754 (GRCh38)
                  21:38309054 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:36936753:G:A,NC_000021.9:36936753:G:C
                  Gene:
                  HLCS (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
                  Clinical significance:
                  likely-pathogenic
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000021.9:g.36936754G>A, NC_000021.9:g.36936754G>C, NC_000021.8:g.38309054G>A, NC_000021.8:g.38309054G>C, NG_016193.2:g.58641C>T, NG_016193.2:g.58641C>G, NM_000411.8:c.691C>T, NM_000411.8:c.691C>G, NM_000411.7:c.691C>T, NM_000411.7:c.691C>G, NM_000411.6:c.691C>T, NM_000411.6:c.691C>G, NM_001242784.3:c.691C>T, NM_001242784.3:c.691C>G, NM_001242784.2:c.691C>T, NM_001242784.2:c.691C>G, NM_001242784.1:c.691C>T, NM_001242784.1:c.691C>G, NM_001242785.2:c.691C>T, NM_001242785.2:c.691C>G, NM_001242785.1:c.691C>T, NM_001242785.1:c.691C>G, NR_148020.2:n.991C>T, NR_148020.2:n.991C>G, NR_148020.1:n.1174C>T, NR_148020.1:n.1174C>G, NM_001352516.2:c.691C>T, NM_001352516.2:c.691C>G, NM_001352516.1:c.691C>T, NM_001352516.1:c.691C>G, NM_001352514.2:c.1132C>T, NM_001352514.2:c.1132C>G, NM_001352514.1:c.1132C>T, NM_001352514.1:c.1132C>G, NM_001352518.2:c.691C>T, NM_001352518.2:c.691C>G, NM_001352518.1:c.691C>T, NM_001352518.1:c.691C>G, NM_001352515.2:c.691C>T, NM_001352515.2:c.691C>G, NM_001352515.1:c.691C>T, NM_001352515.1:c.691C>G, NR_148021.1:n.1148C>T, NR_148021.1:n.1148C>G, NM_001352517.1:c.691C>T, NM_001352517.1:c.691C>G, XM_011529540.3:c.1132C>T, XM_011529540.3:c.1132C>G, XM_011529540.2:c.1132C>T, XM_011529540.2:c.1132C>G, XM_011529540.1:c.1132C>T, XM_011529540.1:c.1132C>G, XM_024452065.2:c.520C>T, XM_024452065.2:c.520C>G, XM_024452065.1:c.520C>T, XM_024452065.1:c.520C>G, XM_047440752.1:c.976C>T, XM_047440752.1:c.976C>G, XM_047440754.1:c.691C>T, XM_047440754.1:c.691C>G, XM_047440756.1:c.691C>T, XM_047440756.1:c.691C>G, XM_047440753.1:c.1132C>T, XM_047440753.1:c.1132C>G, XM_047440755.1:c.1132C>T, XM_047440755.1:c.1132C>G, NP_000402.3:p.Gln231Ter, NP_000402.3:p.Gln231Glu, NP_001229713.1:p.Gln231Ter, NP_001229713.1:p.Gln231Glu, NP_001229714.1:p.Gln231Ter, NP_001229714.1:p.Gln231Glu, NP_001339445.1:p.Gln231Ter, NP_001339445.1:p.Gln231Glu, NP_001339443.1:p.Gln378Ter, NP_001339443.1:p.Gln378Glu, NP_001339447.1:p.Gln231Ter, NP_001339447.1:p.Gln231Glu, NP_001339444.1:p.Gln231Ter, NP_001339444.1:p.Gln231Glu, NP_001339446.1:p.Gln231Ter, NP_001339446.1:p.Gln231Glu, XP_011527842.1:p.Gln378Ter, XP_011527842.1:p.Gln378Glu, XP_024307833.1:p.Gln174Ter, XP_024307833.1:p.Gln174Glu, XP_047296708.1:p.Gln326Ter, XP_047296708.1:p.Gln326Glu, XP_047296710.1:p.Gln231Ter, XP_047296710.1:p.Gln231Glu, XP_047296712.1:p.Gln231Ter, XP_047296712.1:p.Gln231Glu, XP_047296709.1:p.Gln378Ter, XP_047296709.1:p.Gln378Glu, XP_047296711.1:p.Gln378Ter, XP_047296711.1:p.Gln378Glu

                  9.

                  rs1481304665 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    21:36896970 (GRCh38)
                    21:38269270 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:36896969:T:C,NC_000021.9:36896969:T:G
                    Gene:
                    HLCS (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000021.9:g.36896970T>C, NC_000021.9:g.36896970T>G, NC_000021.8:g.38269270T>C, NC_000021.8:g.38269270T>G, NG_016193.2:g.98425A>G, NG_016193.2:g.98425A>C, NM_000411.8:c.1341A>G, NM_000411.8:c.1341A>C, NM_000411.7:c.1341A>G, NM_000411.7:c.1341A>C, NM_000411.6:c.1341A>G, NM_000411.6:c.1341A>C, NM_001242784.3:c.1341A>G, NM_001242784.3:c.1341A>C, NM_001242784.2:c.1341A>G, NM_001242784.2:c.1341A>C, NM_001242784.1:c.1341A>G, NM_001242784.1:c.1341A>C, NM_001242785.2:c.1341A>G, NM_001242785.2:c.1341A>C, NM_001242785.1:c.1341A>G, NM_001242785.1:c.1341A>C, NR_148020.2:n.1641A>G, NR_148020.2:n.1641A>C, NR_148020.1:n.1824A>G, NR_148020.1:n.1824A>C, NM_001352516.2:c.1341A>G, NM_001352516.2:c.1341A>C, NM_001352516.1:c.1341A>G, NM_001352516.1:c.1341A>C, NM_001352514.2:c.1782A>G, NM_001352514.2:c.1782A>C, NM_001352514.1:c.1782A>G, NM_001352514.1:c.1782A>C, NM_001352518.2:c.1341A>G, NM_001352518.2:c.1341A>C, NM_001352518.1:c.1341A>G, NM_001352518.1:c.1341A>C, NM_001352515.2:c.1341A>G, NM_001352515.2:c.1341A>C, NM_001352515.1:c.1341A>G, NM_001352515.1:c.1341A>C, NR_148021.1:n.1798A>G, NR_148021.1:n.1798A>C, NM_001352517.1:c.1341A>G, NM_001352517.1:c.1341A>C, XM_011529540.3:c.1782A>G, XM_011529540.3:c.1782A>C, XM_011529540.2:c.1782A>G, XM_011529540.2:c.1782A>C, XM_011529540.1:c.1782A>G, XM_011529540.1:c.1782A>C, XM_024452065.2:c.1170A>G, XM_024452065.2:c.1170A>C, XM_024452065.1:c.1170A>G, XM_024452065.1:c.1170A>C, XM_047440752.1:c.1626A>G, XM_047440752.1:c.1626A>C, XM_047440754.1:c.1341A>G, XM_047440754.1:c.1341A>C, XM_047440756.1:c.1341A>G, XM_047440756.1:c.1341A>C, XM_047440753.1:c.1782A>G, XM_047440753.1:c.1782A>C

                    10.

                    rs1479127824 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      21:36936536 (GRCh38)
                      21:38308836 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:36936535:G:A
                      Gene:
                      HLCS (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000021.9:g.36936536G>A, NC_000021.8:g.38308836G>A, NG_016193.2:g.58859C>T, NM_000411.8:c.909C>T, NM_000411.7:c.909C>T, NM_000411.6:c.909C>T, NM_001242784.3:c.909C>T, NM_001242784.2:c.909C>T, NM_001242784.1:c.909C>T, NM_001242785.2:c.909C>T, NM_001242785.1:c.909C>T, NR_148020.2:n.1209C>T, NR_148020.1:n.1392C>T, NM_001352516.2:c.909C>T, NM_001352516.1:c.909C>T, NM_001352514.2:c.1350C>T, NM_001352514.1:c.1350C>T, NM_001352518.2:c.909C>T, NM_001352518.1:c.909C>T, NM_001352515.2:c.909C>T, NM_001352515.1:c.909C>T, NR_148021.1:n.1366C>T, NM_001352517.1:c.909C>T, XM_011529540.3:c.1350C>T, XM_011529540.2:c.1350C>T, XM_011529540.1:c.1350C>T, XM_024452065.2:c.738C>T, XM_024452065.1:c.738C>T, XM_047440752.1:c.1194C>T, XM_047440754.1:c.909C>T, XM_047440756.1:c.909C>T, XM_047440753.1:c.1350C>T, XM_047440755.1:c.1350C>T

                      11.

                      rs1477809008 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        21:36936922 (GRCh38)
                        21:38309222 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:36936921:C:G
                        Gene:
                        HLCS (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000021.9:g.36936922C>G, NC_000021.8:g.38309222C>G, NG_016193.2:g.58473G>C, NM_000411.8:c.523G>C, NM_000411.7:c.523G>C, NM_000411.6:c.523G>C, NM_001242784.3:c.523G>C, NM_001242784.2:c.523G>C, NM_001242784.1:c.523G>C, NM_001242785.2:c.523G>C, NM_001242785.1:c.523G>C, NR_148020.2:n.823G>C, NR_148020.1:n.1006G>C, NM_001352516.2:c.523G>C, NM_001352516.1:c.523G>C, NM_001352514.2:c.964G>C, NM_001352514.1:c.964G>C, NM_001352518.2:c.523G>C, NM_001352518.1:c.523G>C, NM_001352515.2:c.523G>C, NM_001352515.1:c.523G>C, NR_148021.1:n.980G>C, NM_001352517.1:c.523G>C, XM_011529540.3:c.964G>C, XM_011529540.2:c.964G>C, XM_011529540.1:c.964G>C, XM_024452065.2:c.352G>C, XM_024452065.1:c.352G>C, XM_047440752.1:c.808G>C, XM_047440754.1:c.523G>C, XM_047440756.1:c.523G>C, XM_047440753.1:c.964G>C, XM_047440755.1:c.964G>C, NP_000402.3:p.Ala175Pro, NP_001229713.1:p.Ala175Pro, NP_001229714.1:p.Ala175Pro, NP_001339445.1:p.Ala175Pro, NP_001339443.1:p.Ala322Pro, NP_001339447.1:p.Ala175Pro, NP_001339444.1:p.Ala175Pro, NP_001339446.1:p.Ala175Pro, XP_011527842.1:p.Ala322Pro, XP_024307833.1:p.Ala118Pro, XP_047296708.1:p.Ala270Pro, XP_047296710.1:p.Ala175Pro, XP_047296712.1:p.Ala175Pro, XP_047296709.1:p.Ala322Pro, XP_047296711.1:p.Ala322Pro

                        12.

                        rs1477360619 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          21:36756720 (GRCh38)
                          21:38129021 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:36756719:T:C
                          Gene:
                          HLCS (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000021.9:g.36756720T>C, NC_000021.8:g.38129021T>C, NG_016193.2:g.238675A>G, NM_000411.8:c.1831A>G, NM_000411.7:c.1831A>G, NM_000411.6:c.1831A>G, NM_001242784.3:c.1831A>G, NM_001242784.2:c.1831A>G, NM_001242784.1:c.1831A>G, NM_001242785.2:c.1831A>G, NM_001242785.1:c.1831A>G, NR_148020.2:n.2356A>G, NR_148020.1:n.2539A>G, NM_001352516.2:c.1831A>G, NM_001352516.1:c.1831A>G, NM_001352514.2:c.2272A>G, NM_001352514.1:c.2272A>G, NM_001352518.2:c.1831A>G, NM_001352518.1:c.1831A>G, NM_001352515.2:c.1831A>G, NM_001352515.1:c.1831A>G, NR_148021.1:n.2513A>G, NM_001352517.1:c.1831A>G, XM_024452065.2:c.1660A>G, XM_024452065.1:c.1660A>G, XM_047440752.1:c.2116A>G, XM_047440754.1:c.1831A>G, NP_000402.3:p.Ile611Val, NP_001229713.1:p.Ile611Val, NP_001229714.1:p.Ile611Val, NP_001339445.1:p.Ile611Val, NP_001339443.1:p.Ile758Val, NP_001339447.1:p.Ile611Val, NP_001339444.1:p.Ile611Val, NP_001339446.1:p.Ile611Val, XP_024307833.1:p.Ile554Val, XP_047296708.1:p.Ile706Val, XP_047296710.1:p.Ile611Val

                          13.

                          rs1477156017 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            21:36937146 (GRCh38)
                            21:38309446 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:36937145:T:C,NC_000021.9:36937145:T:G
                            Gene:
                            HLCS (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000008/2 (GnomAD_exomes)
                            G=0.000546/1 (Korea1K)
                            HGVS:
                            NC_000021.9:g.36937146T>C, NC_000021.9:g.36937146T>G, NC_000021.8:g.38309446T>C, NC_000021.8:g.38309446T>G, NG_016193.2:g.58249A>G, NG_016193.2:g.58249A>C, NM_000411.8:c.299A>G, NM_000411.8:c.299A>C, NM_000411.7:c.299A>G, NM_000411.7:c.299A>C, NM_000411.6:c.299A>G, NM_000411.6:c.299A>C, NM_001242784.3:c.299A>G, NM_001242784.3:c.299A>C, NM_001242784.2:c.299A>G, NM_001242784.2:c.299A>C, NM_001242784.1:c.299A>G, NM_001242784.1:c.299A>C, NM_001242785.2:c.299A>G, NM_001242785.2:c.299A>C, NM_001242785.1:c.299A>G, NM_001242785.1:c.299A>C, NR_148020.2:n.599A>G, NR_148020.2:n.599A>C, NR_148020.1:n.782A>G, NR_148020.1:n.782A>C, NM_001352516.2:c.299A>G, NM_001352516.2:c.299A>C, NM_001352516.1:c.299A>G, NM_001352516.1:c.299A>C, NM_001352514.2:c.740A>G, NM_001352514.2:c.740A>C, NM_001352514.1:c.740A>G, NM_001352514.1:c.740A>C, NM_001352518.2:c.299A>G, NM_001352518.2:c.299A>C, NM_001352518.1:c.299A>G, NM_001352518.1:c.299A>C, NM_001352515.2:c.299A>G, NM_001352515.2:c.299A>C, NM_001352515.1:c.299A>G, NM_001352515.1:c.299A>C, NR_148021.1:n.756A>G, NR_148021.1:n.756A>C, NM_001352517.1:c.299A>G, NM_001352517.1:c.299A>C, XM_011529540.3:c.740A>G, XM_011529540.3:c.740A>C, XM_011529540.2:c.740A>G, XM_011529540.2:c.740A>C, XM_011529540.1:c.740A>G, XM_011529540.1:c.740A>C, XM_024452065.2:c.128A>G, XM_024452065.2:c.128A>C, XM_024452065.1:c.128A>G, XM_024452065.1:c.128A>C, XM_047440752.1:c.584A>G, XM_047440752.1:c.584A>C, XM_047440754.1:c.299A>G, XM_047440754.1:c.299A>C, XM_047440756.1:c.299A>G, XM_047440756.1:c.299A>C, XM_047440753.1:c.740A>G, XM_047440753.1:c.740A>C, XM_047440755.1:c.740A>G, XM_047440755.1:c.740A>C, NP_000402.3:p.His100Arg, NP_000402.3:p.His100Pro, NP_001229713.1:p.His100Arg, NP_001229713.1:p.His100Pro, NP_001229714.1:p.His100Arg, NP_001229714.1:p.His100Pro, NP_001339445.1:p.His100Arg, NP_001339445.1:p.His100Pro, NP_001339443.1:p.His247Arg, NP_001339443.1:p.His247Pro, NP_001339447.1:p.His100Arg, NP_001339447.1:p.His100Pro, NP_001339444.1:p.His100Arg, NP_001339444.1:p.His100Pro, NP_001339446.1:p.His100Arg, NP_001339446.1:p.His100Pro, XP_011527842.1:p.His247Arg, XP_011527842.1:p.His247Pro, XP_024307833.1:p.His43Arg, XP_024307833.1:p.His43Pro, XP_047296708.1:p.His195Arg, XP_047296708.1:p.His195Pro, XP_047296710.1:p.His100Arg, XP_047296710.1:p.His100Pro, XP_047296712.1:p.His100Arg, XP_047296712.1:p.His100Pro, XP_047296709.1:p.His247Arg, XP_047296709.1:p.His247Pro, XP_047296711.1:p.His247Arg, XP_047296711.1:p.His247Pro

                            14.

                            rs1472894366 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              21:36937307 (GRCh38)
                              21:38309608 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:36937307::C
                              Gene:
                              HLCS (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000048/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000021.9:g.36937307_36937308insC, NC_000021.8:g.38309607_38309608insC, NG_016193.2:g.58087_58088insG, NM_000411.8:c.137_138insG, NM_000411.7:c.137_138insG, NM_000411.6:c.137_138insG, NM_001242784.3:c.137_138insG, NM_001242784.2:c.137_138insG, NM_001242784.1:c.137_138insG, NM_001242785.2:c.137_138insG, NM_001242785.1:c.137_138insG, NR_148020.2:n.437_438insG, NR_148020.1:n.620_621insG, NM_001352516.2:c.137_138insG, NM_001352516.1:c.137_138insG, NM_001352514.2:c.578_579insG, NM_001352514.1:c.578_579insG, NM_001352518.2:c.137_138insG, NM_001352518.1:c.137_138insG, NM_001352515.2:c.137_138insG, NM_001352515.1:c.137_138insG, NR_148021.1:n.594_595insG, NM_001352517.1:c.137_138insG, XM_011529540.3:c.578_579insG, XM_011529540.2:c.578_579insG, XM_011529540.1:c.578_579insG, XM_024452065.2:c.-35_-34insG, XM_024452065.1:c.-35_-34insG, XM_047440752.1:c.422_423insG, XM_047440754.1:c.137_138insG, XM_047440756.1:c.137_138insG, XM_047440753.1:c.578_579insG, XM_047440755.1:c.578_579insG, NP_000402.3:p.Pro47fs, NP_001229713.1:p.Pro47fs, NP_001229714.1:p.Pro47fs, NP_001339445.1:p.Pro47fs, NP_001339443.1:p.Pro194fs, NP_001339447.1:p.Pro47fs, NP_001339444.1:p.Pro47fs, NP_001339446.1:p.Pro47fs, XP_011527842.1:p.Pro194fs, XP_047296708.1:p.Pro142fs, XP_047296710.1:p.Pro47fs, XP_047296712.1:p.Pro47fs, XP_047296709.1:p.Pro194fs, XP_047296711.1:p.Pro194fs

                              15.

                              rs1472760580 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                21:36936596 (GRCh38)
                                21:38308896 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:36936595:G:A
                                Gene:
                                HLCS (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000008/2 (GnomAD_exomes)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000021.9:g.36936596G>A, NC_000021.8:g.38308896G>A, NG_016193.2:g.58799C>T, NM_000411.8:c.849C>T, NM_000411.7:c.849C>T, NM_000411.6:c.849C>T, NM_001242784.3:c.849C>T, NM_001242784.2:c.849C>T, NM_001242784.1:c.849C>T, NM_001242785.2:c.849C>T, NM_001242785.1:c.849C>T, NR_148020.2:n.1149C>T, NR_148020.1:n.1332C>T, NM_001352516.2:c.849C>T, NM_001352516.1:c.849C>T, NM_001352514.2:c.1290C>T, NM_001352514.1:c.1290C>T, NM_001352518.2:c.849C>T, NM_001352518.1:c.849C>T, NM_001352515.2:c.849C>T, NM_001352515.1:c.849C>T, NR_148021.1:n.1306C>T, NM_001352517.1:c.849C>T, XM_011529540.3:c.1290C>T, XM_011529540.2:c.1290C>T, XM_011529540.1:c.1290C>T, XM_024452065.2:c.678C>T, XM_024452065.1:c.678C>T, XM_047440752.1:c.1134C>T, XM_047440754.1:c.849C>T, XM_047440756.1:c.849C>T, XM_047440753.1:c.1290C>T, XM_047440755.1:c.1290C>T

                                16.

                                rs1471072200 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  21:36756649 (GRCh38)
                                  21:38128950 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:36756648:A:G
                                  Gene:
                                  HLCS (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1468902937 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    21:36765122 (GRCh38)
                                    21:38137423 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:36765121:G:C
                                    Gene:
                                    HLCS (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000021.9:g.36765122G>C, NC_000021.8:g.38137423G>C, NG_016193.2:g.230273C>G, NM_000411.8:c.1570C>G, NM_000411.7:c.1570C>G, NM_000411.6:c.1570C>G, NM_001242784.3:c.1570C>G, NM_001242784.2:c.1570C>G, NM_001242784.1:c.1570C>G, NM_001242785.2:c.1570C>G, NM_001242785.1:c.1570C>G, NR_148020.2:n.1870C>G, NR_148020.1:n.2053C>G, NM_001352516.2:c.1570C>G, NM_001352516.1:c.1570C>G, NM_001352514.2:c.2011C>G, NM_001352514.1:c.2011C>G, NM_001352518.2:c.1570C>G, NM_001352518.1:c.1570C>G, NM_001352515.2:c.1570C>G, NM_001352515.1:c.1570C>G, NR_148021.1:n.2027C>G, NM_001352517.1:c.1570C>G, XM_024452065.2:c.1399C>G, XM_024452065.1:c.1399C>G, XM_047440752.1:c.1855C>G, XM_047440754.1:c.1570C>G, XM_047440753.1:c.2011C>G, NP_000402.3:p.Leu524Val, NP_001229713.1:p.Leu524Val, NP_001229714.1:p.Leu524Val, NP_001339445.1:p.Leu524Val, NP_001339443.1:p.Leu671Val, NP_001339447.1:p.Leu524Val, NP_001339444.1:p.Leu524Val, NP_001339446.1:p.Leu524Val, XP_024307833.1:p.Leu467Val, XP_047296708.1:p.Leu619Val, XP_047296710.1:p.Leu524Val, XP_047296709.1:p.Leu671Val

                                    18.

                                    rs1467195179 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      21:36936535 (GRCh38)
                                      21:38308835 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:36936534:G:C
                                      Gene:
                                      HLCS (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000021.9:g.36936535G>C, NC_000021.8:g.38308835G>C, NG_016193.2:g.58860C>G, NM_000411.8:c.910C>G, NM_000411.7:c.910C>G, NM_000411.6:c.910C>G, NM_001242784.3:c.910C>G, NM_001242784.2:c.910C>G, NM_001242784.1:c.910C>G, NM_001242785.2:c.910C>G, NM_001242785.1:c.910C>G, NR_148020.2:n.1210C>G, NR_148020.1:n.1393C>G, NM_001352516.2:c.910C>G, NM_001352516.1:c.910C>G, NM_001352514.2:c.1351C>G, NM_001352514.1:c.1351C>G, NM_001352518.2:c.910C>G, NM_001352518.1:c.910C>G, NM_001352515.2:c.910C>G, NM_001352515.1:c.910C>G, NR_148021.1:n.1367C>G, NM_001352517.1:c.910C>G, XM_011529540.3:c.1351C>G, XM_011529540.2:c.1351C>G, XM_011529540.1:c.1351C>G, XM_024452065.2:c.739C>G, XM_024452065.1:c.739C>G, XM_047440752.1:c.1195C>G, XM_047440754.1:c.910C>G, XM_047440756.1:c.910C>G, XM_047440753.1:c.1351C>G, XM_047440755.1:c.1351C>G, NP_000402.3:p.Gln304Glu, NP_001229713.1:p.Gln304Glu, NP_001229714.1:p.Gln304Glu, NP_001339445.1:p.Gln304Glu, NP_001339443.1:p.Gln451Glu, NP_001339447.1:p.Gln304Glu, NP_001339444.1:p.Gln304Glu, NP_001339446.1:p.Gln304Glu, XP_011527842.1:p.Gln451Glu, XP_024307833.1:p.Gln247Glu, XP_047296708.1:p.Gln399Glu, XP_047296710.1:p.Gln304Glu, XP_047296712.1:p.Gln304Glu, XP_047296709.1:p.Gln451Glu, XP_047296711.1:p.Gln451Glu

                                      19.

                                      rs1466111134 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        21:36754341 (GRCh38)
                                        21:38126642 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:36754340:G:A
                                        Gene:
                                        HLCS (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
                                        Clinical significance:
                                        likely-pathogenic
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000031/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000021.9:g.36754341G>A, NC_000021.8:g.38126642G>A, NG_016193.2:g.241054C>T, NM_000411.8:c.2086C>T, NM_000411.7:c.2086C>T, NM_000411.6:c.2086C>T, NM_001242784.3:c.2086C>T, NM_001242784.2:c.2086C>T, NM_001242784.1:c.2086C>T, NM_001242785.2:c.2086C>T, NM_001242785.1:c.2086C>T, NR_148020.2:n.2611C>T, NR_148020.1:n.2794C>T, NM_001352516.2:c.2086C>T, NM_001352516.1:c.2086C>T, NM_001352514.2:c.2527C>T, NM_001352514.1:c.2527C>T, NM_001352518.2:c.2086C>T, NM_001352518.1:c.2086C>T, NM_001352515.2:c.2086C>T, NM_001352515.1:c.2086C>T, NR_148021.1:n.2768C>T, NM_001352517.1:c.2086C>T, XM_024452065.2:c.1915C>T, XM_024452065.1:c.1915C>T, XM_047440752.1:c.2371C>T, XM_047440754.1:c.2086C>T, NP_000402.3:p.Gln696Ter, NP_001229713.1:p.Gln696Ter, NP_001229714.1:p.Gln696Ter, NP_001339445.1:p.Gln696Ter, NP_001339443.1:p.Gln843Ter, NP_001339447.1:p.Gln696Ter, NP_001339444.1:p.Gln696Ter, NP_001339446.1:p.Gln696Ter, XP_024307833.1:p.Gln639Ter, XP_047296708.1:p.Gln791Ter, XP_047296710.1:p.Gln696Ter

                                        20.

                                        rs1465548855 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          21:36936643 (GRCh38)
                                          21:38308943 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:36936642:G:A
                                          Gene:
                                          HLCS (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.0002/1 (ALFA)
                                          A=0.0002/1 (Estonian)
                                          HGVS:
                                          NC_000021.9:g.36936643G>A, NC_000021.8:g.38308943G>A, NG_016193.2:g.58752C>T, NM_000411.8:c.802C>T, NM_000411.7:c.802C>T, NM_000411.6:c.802C>T, NM_001242784.3:c.802C>T, NM_001242784.2:c.802C>T, NM_001242784.1:c.802C>T, NM_001242785.2:c.802C>T, NM_001242785.1:c.802C>T, NR_148020.2:n.1102C>T, NR_148020.1:n.1285C>T, NM_001352516.2:c.802C>T, NM_001352516.1:c.802C>T, NM_001352514.2:c.1243C>T, NM_001352514.1:c.1243C>T, NM_001352518.2:c.802C>T, NM_001352518.1:c.802C>T, NM_001352515.2:c.802C>T, NM_001352515.1:c.802C>T, NR_148021.1:n.1259C>T, NM_001352517.1:c.802C>T, XM_011529540.3:c.1243C>T, XM_011529540.2:c.1243C>T, XM_011529540.1:c.1243C>T, XM_024452065.2:c.631C>T, XM_024452065.1:c.631C>T, XM_047440752.1:c.1087C>T, XM_047440754.1:c.802C>T, XM_047440756.1:c.802C>T, XM_047440753.1:c.1243C>T, XM_047440755.1:c.1243C>T, NP_000402.3:p.Gln268Ter, NP_001229713.1:p.Gln268Ter, NP_001229714.1:p.Gln268Ter, NP_001339445.1:p.Gln268Ter, NP_001339443.1:p.Gln415Ter, NP_001339447.1:p.Gln268Ter, NP_001339444.1:p.Gln268Ter, NP_001339446.1:p.Gln268Ter, XP_011527842.1:p.Gln415Ter, XP_024307833.1:p.Gln211Ter, XP_047296708.1:p.Gln363Ter, XP_047296710.1:p.Gln268Ter, XP_047296712.1:p.Gln268Ter, XP_047296709.1:p.Gln415Ter, XP_047296711.1:p.Gln415Ter

                                          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...