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 411

4.

rs1487303100 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    10:88768911 (GRCh38)
    10:90528668 (GRCh37)
    Canonical SPDI:
    NC_000010.11:88768910:C:A,NC_000010.11:88768910:C:T
    Gene:
    LIPN (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000010.11:g.88768911C>A, NC_000010.11:g.88768911C>T, NC_000010.10:g.90528668C>A, NC_000010.10:g.90528668C>T, NG_031911.1:g.12506C>A, NG_031911.1:g.12506C>T, NM_001102469.2:c.655C>A, NM_001102469.2:c.655C>T, NM_001102469.1:c.655C>A, NM_001102469.1:c.655C>T, XM_005270049.4:c.655C>A, XM_005270049.4:c.655C>T, XM_005270049.3:c.655C>A, XM_005270049.3:c.655C>T, XM_005270049.2:c.655C>A, XM_005270049.2:c.655C>T, XM_005270049.1:c.655C>A, XM_005270049.1:c.655C>T, XM_011540084.3:c.655C>A, XM_011540084.3:c.655C>T, XM_011540084.2:c.655C>A, XM_011540084.2:c.655C>T, XM_011540084.1:c.655C>A, XM_011540084.1:c.655C>T, XM_017016549.2:c.655C>A, XM_017016549.2:c.655C>T, XM_017016549.1:c.655C>A, XM_017016549.1:c.655C>T, XM_047425642.1:c.655C>A, XM_047425642.1:c.655C>T, XM_047425643.1:c.655C>A, XM_047425643.1:c.655C>T, XM_047425644.1:c.655C>A, XM_047425644.1:c.655C>T, NP_001095939.1:p.Pro219Thr, NP_001095939.1:p.Pro219Ser, XP_005270106.1:p.Pro219Thr, XP_005270106.1:p.Pro219Ser, XP_011538386.1:p.Pro219Thr, XP_011538386.1:p.Pro219Ser, XP_016872038.1:p.Pro219Thr, XP_016872038.1:p.Pro219Ser, XP_047281598.1:p.Pro219Thr, XP_047281598.1:p.Pro219Ser, XP_047281599.1:p.Pro219Thr, XP_047281599.1:p.Pro219Ser, XP_047281600.1:p.Pro219Thr, XP_047281600.1:p.Pro219Ser
    6.

    rs1480471696 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:88761510 (GRCh38)
      10:90521267 (GRCh37)
      Canonical SPDI:
      NC_000010.11:88761509:T:C
      Gene:
      LIPN (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      HGVS:
      8.

      rs1478777062 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:88774482 (GRCh38)
        10:90534239 (GRCh37)
        Canonical SPDI:
        NC_000010.11:88774481:G:A
        Gene:
        LIPN (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        12.

        rs1474402042 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:88778023 (GRCh38)
          10:90537780 (GRCh37)
          Canonical SPDI:
          NC_000010.11:88778022:A:G
          Gene:
          LIPN (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_downstream_transcript_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:
          13.

          rs1474060461 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:88770910 (GRCh38)
            10:90530667 (GRCh37)
            Canonical SPDI:
            NC_000010.11:88770909:C:T
            Gene:
            LIPN (Varview)
            Functional Consequence:
            coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.0002/1 (ALFA)
            T=0.0002/1 (Estonian)
            HGVS:
            14.

            rs1473901348 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:88775153 (GRCh38)
              10:90534910 (GRCh37)
              Canonical SPDI:
              NC_000010.11:88775152:A:G
              Gene:
              LIPN (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000006/1 (GnomAD_exomes)
              G=0.000007/1 (GnomAD)
              HGVS:
              15.

              rs1470263201 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                10:88762286 (GRCh38)
                10:90522043 (GRCh37)
                Canonical SPDI:
                NC_000010.11:88762285:A:T
                Gene:
                LIPN (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000026/7 (TOPMED)
                HGVS:
                17.

                rs1469770426 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:88778207 (GRCh38)
                  10:90537964 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:88778206:A:G
                  Gene:
                  LIPN (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_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)
                  HGVS:
                  19.

                  rs1460931607 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    10:88778027 (GRCh38)
                    10:90537784 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:88778026:G:C
                    Gene:
                    LIPN (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    20.

                    rs1460355989 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:88778240 (GRCh38)
                      10:90537997 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:88778239:T:C
                      Gene:
                      LIPN (Varview)
                      Functional Consequence:
                      terminator_codon_variant,stop_lost,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000008/2 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:

                      Display Settings:

                      Format
                      Items per page
                      Sort by

                      Send to:

                      Choose Destination

                      Supplemental Content

                      Find related data

                      Recent activity

                      Your browsing activity is empty.

                      Activity recording is turned off.

                      Turn recording back on

                      See more...