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Items: 1 to 20 of 232

1.

rs1487940572 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:36729438 (GRCh38)
    2:36956581 (GRCh37)
    Canonical SPDI:
    NC_000002.12:36729437:C:T
    Gene:
    VIT (Varview), LOC124905990 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000012/3 (GnomAD_exomes)
    T=0.000021/3 (GnomAD)
    HGVS:
    NC_000002.12:g.36729438C>T, NC_000002.11:g.36956581C>T, NG_050963.1:g.37754C>T, NM_053276.4:c.65C>T, NM_053276.3:c.65C>T, NM_001177972.3:c.65C>T, NM_001177972.2:c.65C>T, NM_001177972.1:c.65C>T, NM_001177969.2:c.65C>T, NM_001177969.1:c.65C>T, NM_001328661.2:c.65C>T, NM_001328661.1:c.65C>T, NM_001177970.2:c.65C>T, NM_001177970.1:c.65C>T, NM_001177971.2:c.65C>T, NM_001177971.1:c.65C>T, NM_001391966.1:c.65C>T, NM_001391967.1:c.65C>T, NM_001391968.1:c.65C>T, NM_001391969.1:c.65C>T, NM_001391970.1:c.65C>T, XM_011532906.3:c.65C>T, XM_011532906.2:c.65C>T, XM_011532906.1:c.65C>T, NP_444506.2:p.Thr22Ile, NP_001171443.1:p.Thr22Ile, NP_001171440.1:p.Thr22Ile, NP_001315590.1:p.Thr22Ile, NP_001171441.1:p.Thr22Ile, NP_001171442.1:p.Thr22Ile, NP_001378895.1:p.Thr22Ile, NP_001378896.1:p.Thr22Ile, NP_001378897.1:p.Thr22Ile, NP_001378898.1:p.Thr22Ile, NP_001378899.1:p.Thr22Ile, XP_011531208.1:p.Thr22Ile

    2.

    rs1482205254 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      2:36755027 (GRCh38)
      2:36982170 (GRCh37)
      Canonical SPDI:
      NC_000002.12:36755026:C:G,NC_000002.12:36755026:C:T
      Gene:
      VIT (Varview), LOC124905990 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,stop_gained,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000031/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000002.12:g.36755027C>G, NC_000002.12:g.36755027C>T, NC_000002.11:g.36982170C>G, NC_000002.11:g.36982170C>T, NG_050963.1:g.63343C>G, NG_050963.1:g.63343C>T, NM_053276.4:c.382C>G, NM_053276.4:c.382C>T, NM_053276.3:c.382C>G, NM_053276.3:c.382C>T, NM_001177972.3:c.382C>G, NM_001177972.3:c.382C>T, NM_001177972.2:c.382C>G, NM_001177972.2:c.382C>T, NM_001177972.1:c.382C>G, NM_001177972.1:c.382C>T, NM_001177969.2:c.382C>G, NM_001177969.2:c.382C>T, NM_001177969.1:c.382C>G, NM_001177969.1:c.382C>T, NM_001328661.2:c.382C>G, NM_001328661.2:c.382C>T, NM_001328661.1:c.382C>G, NM_001328661.1:c.382C>T, NM_001177970.2:c.382C>G, NM_001177970.2:c.382C>T, NM_001177970.1:c.382C>G, NM_001177970.1:c.382C>T, NM_001177971.2:c.382C>G, NM_001177971.2:c.382C>T, NM_001177971.1:c.382C>G, NM_001177971.1:c.382C>T, NM_001391966.1:c.382C>G, NM_001391966.1:c.382C>T, NM_001391967.1:c.382C>G, NM_001391967.1:c.382C>T, NM_001391968.1:c.382C>G, NM_001391968.1:c.382C>T, NM_001391969.1:c.382C>G, NM_001391969.1:c.382C>T, NM_001391970.1:c.382C>G, NM_001391970.1:c.382C>T, XM_011532906.3:c.382C>G, XM_011532906.3:c.382C>T, XM_011532906.2:c.382C>G, XM_011532906.2:c.382C>T, XM_011532906.1:c.382C>G, XM_011532906.1:c.382C>T, XM_017004327.2:c.-171C>G, XM_017004327.2:c.-171C>T, XM_017004327.1:c.-171C>G, XM_017004327.1:c.-171C>T, NP_444506.2:p.Arg128Gly, NP_444506.2:p.Arg128Ter, NP_001171443.1:p.Arg128Gly, NP_001171443.1:p.Arg128Ter, NP_001171440.1:p.Arg128Gly, NP_001171440.1:p.Arg128Ter, NP_001315590.1:p.Arg128Gly, NP_001315590.1:p.Arg128Ter, NP_001171441.1:p.Arg128Gly, NP_001171441.1:p.Arg128Ter, NP_001171442.1:p.Arg128Gly, NP_001171442.1:p.Arg128Ter, NP_001378895.1:p.Arg128Gly, NP_001378895.1:p.Arg128Ter, NP_001378896.1:p.Arg128Gly, NP_001378896.1:p.Arg128Ter, NP_001378897.1:p.Arg128Gly, NP_001378897.1:p.Arg128Ter, NP_001378898.1:p.Arg128Gly, NP_001378898.1:p.Arg128Ter, NP_001378899.1:p.Arg128Gly, NP_001378899.1:p.Arg128Ter, XP_011531208.1:p.Arg128Gly, XP_011531208.1:p.Arg128Ter

      3.

      rs1481198036 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        2:36743183 (GRCh38)
        2:36970326 (GRCh37)
        Canonical SPDI:
        NC_000002.12:36743182:G:C
        Gene:
        VIT (Varview), LOC124905990 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
        HGVS:
        NC_000002.12:g.36743183G>C, NC_000002.11:g.36970326G>C, NG_050963.1:g.51499G>C, NM_053276.4:c.202G>C, NM_053276.3:c.202G>C, NM_001177972.3:c.202G>C, NM_001177972.2:c.202G>C, NM_001177972.1:c.202G>C, NM_001177969.2:c.202G>C, NM_001177969.1:c.202G>C, NM_001328661.2:c.202G>C, NM_001328661.1:c.202G>C, NM_001177970.2:c.202G>C, NM_001177970.1:c.202G>C, NM_001177971.2:c.202G>C, NM_001177971.1:c.202G>C, NM_001391966.1:c.202G>C, NM_001391967.1:c.202G>C, NM_001391968.1:c.202G>C, NM_001391969.1:c.202G>C, NM_001391970.1:c.202G>C, XM_011532906.3:c.202G>C, XM_011532906.2:c.202G>C, XM_011532906.1:c.202G>C, XM_017004327.2:c.-351G>C, XM_017004327.1:c.-351G>C, NP_444506.2:p.Asp68His, NP_001171443.1:p.Asp68His, NP_001171440.1:p.Asp68His, NP_001315590.1:p.Asp68His, NP_001171441.1:p.Asp68His, NP_001171442.1:p.Asp68His, NP_001378895.1:p.Asp68His, NP_001378896.1:p.Asp68His, NP_001378897.1:p.Asp68His, NP_001378898.1:p.Asp68His, NP_001378899.1:p.Asp68His, XP_011531208.1:p.Asp68His

        4.

        rs1481181574 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:36754944 (GRCh38)
          2:36982087 (GRCh37)
          Canonical SPDI:
          NC_000002.12:36754943:G:A
          Gene:
          VIT (Varview), LOC124905990 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.36754944G>A, NC_000002.11:g.36982087G>A, NG_050963.1:g.63260G>A, NM_053276.4:c.299G>A, NM_053276.3:c.299G>A, NM_001177972.3:c.299G>A, NM_001177972.2:c.299G>A, NM_001177972.1:c.299G>A, NM_001177969.2:c.299G>A, NM_001177969.1:c.299G>A, NM_001328661.2:c.299G>A, NM_001328661.1:c.299G>A, NM_001177970.2:c.299G>A, NM_001177970.1:c.299G>A, NM_001177971.2:c.299G>A, NM_001177971.1:c.299G>A, NM_001391966.1:c.299G>A, NM_001391967.1:c.299G>A, NM_001391968.1:c.299G>A, NM_001391969.1:c.299G>A, NM_001391970.1:c.299G>A, XM_011532906.3:c.299G>A, XM_011532906.2:c.299G>A, XM_011532906.1:c.299G>A, XM_017004327.2:c.-254G>A, XM_017004327.1:c.-254G>A, NP_444506.2:p.Gly100Glu, NP_001171443.1:p.Gly100Glu, NP_001171440.1:p.Gly100Glu, NP_001315590.1:p.Gly100Glu, NP_001171441.1:p.Gly100Glu, NP_001171442.1:p.Gly100Glu, NP_001378895.1:p.Gly100Glu, NP_001378896.1:p.Gly100Glu, NP_001378897.1:p.Gly100Glu, NP_001378898.1:p.Gly100Glu, NP_001378899.1:p.Gly100Glu, XP_011531208.1:p.Gly100Glu

          5.

          rs1480926546 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G [Show Flanks]
            Chromosome:
            2:36759007 (GRCh38)
            2:36986150 (GRCh37)
            Canonical SPDI:
            NC_000002.12:36759006:C:A,NC_000002.12:36759006:C:G
            Gene:
            VIT (Varview), LOC124905990 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.36759007C>A, NC_000002.12:g.36759007C>G, NC_000002.11:g.36986150C>A, NC_000002.11:g.36986150C>G, NG_050963.1:g.67323C>A, NG_050963.1:g.67323C>G, NM_053276.4:c.448C>A, NM_053276.4:c.448C>G, NM_053276.3:c.448C>A, NM_053276.3:c.448C>G, NM_001177972.3:c.448C>A, NM_001177972.3:c.448C>G, NM_001177972.2:c.448C>A, NM_001177972.2:c.448C>G, NM_001177972.1:c.448C>A, NM_001177972.1:c.448C>G, NM_001177969.2:c.448C>A, NM_001177969.2:c.448C>G, NM_001177969.1:c.448C>A, NM_001177969.1:c.448C>G, NM_001328661.2:c.448C>A, NM_001328661.2:c.448C>G, NM_001328661.1:c.448C>A, NM_001328661.1:c.448C>G, NM_001177970.2:c.448C>A, NM_001177970.2:c.448C>G, NM_001177970.1:c.448C>A, NM_001177970.1:c.448C>G, NM_001177971.2:c.448C>A, NM_001177971.2:c.448C>G, NM_001177971.1:c.448C>A, NM_001177971.1:c.448C>G, NM_001391966.1:c.448C>A, NM_001391966.1:c.448C>G, NM_001391967.1:c.448C>A, NM_001391967.1:c.448C>G, NM_001391968.1:c.448C>A, NM_001391968.1:c.448C>G, NM_001391969.1:c.448C>A, NM_001391969.1:c.448C>G, NM_001391970.1:c.448C>A, NM_001391970.1:c.448C>G, XM_011532906.3:c.448C>A, XM_011532906.3:c.448C>G, XM_011532906.2:c.448C>A, XM_011532906.2:c.448C>G, XM_011532906.1:c.448C>A, XM_011532906.1:c.448C>G, XM_017004327.2:c.-105C>A, XM_017004327.2:c.-105C>G, XM_017004327.1:c.-105C>A, XM_017004327.1:c.-105C>G, NP_444506.2:p.Leu150Ile, NP_444506.2:p.Leu150Val, NP_001171443.1:p.Leu150Ile, NP_001171443.1:p.Leu150Val, NP_001171440.1:p.Leu150Ile, NP_001171440.1:p.Leu150Val, NP_001315590.1:p.Leu150Ile, NP_001315590.1:p.Leu150Val, NP_001171441.1:p.Leu150Ile, NP_001171441.1:p.Leu150Val, NP_001171442.1:p.Leu150Ile, NP_001171442.1:p.Leu150Val, NP_001378895.1:p.Leu150Ile, NP_001378895.1:p.Leu150Val, NP_001378896.1:p.Leu150Ile, NP_001378896.1:p.Leu150Val, NP_001378897.1:p.Leu150Ile, NP_001378897.1:p.Leu150Val, NP_001378898.1:p.Leu150Ile, NP_001378898.1:p.Leu150Val, NP_001378899.1:p.Leu150Ile, NP_001378899.1:p.Leu150Val, XP_011531208.1:p.Leu150Ile, XP_011531208.1:p.Leu150Val

            6.

            rs1477285211 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:36758978 (GRCh38)
              2:36986121 (GRCh37)
              Canonical SPDI:
              NC_000002.12:36758977:C:T
              Gene:
              VIT (Varview), LOC124905990 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_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:
              NC_000002.12:g.36758978C>T, NC_000002.11:g.36986121C>T, NG_050963.1:g.67294C>T, NM_053276.4:c.419C>T, NM_053276.3:c.419C>T, NM_001177972.3:c.419C>T, NM_001177972.2:c.419C>T, NM_001177972.1:c.419C>T, NM_001177969.2:c.419C>T, NM_001177969.1:c.419C>T, NM_001328661.2:c.419C>T, NM_001328661.1:c.419C>T, NM_001177970.2:c.419C>T, NM_001177970.1:c.419C>T, NM_001177971.2:c.419C>T, NM_001177971.1:c.419C>T, NM_001391966.1:c.419C>T, NM_001391967.1:c.419C>T, NM_001391968.1:c.419C>T, NM_001391969.1:c.419C>T, NM_001391970.1:c.419C>T, XM_011532906.3:c.419C>T, XM_011532906.2:c.419C>T, XM_011532906.1:c.419C>T, XM_017004327.2:c.-134C>T, XM_017004327.1:c.-134C>T, NP_444506.2:p.Pro140Leu, NP_001171443.1:p.Pro140Leu, NP_001171440.1:p.Pro140Leu, NP_001315590.1:p.Pro140Leu, NP_001171441.1:p.Pro140Leu, NP_001171442.1:p.Pro140Leu, NP_001378895.1:p.Pro140Leu, NP_001378896.1:p.Pro140Leu, NP_001378897.1:p.Pro140Leu, NP_001378898.1:p.Pro140Leu, NP_001378899.1:p.Pro140Leu, XP_011531208.1:p.Pro140Leu

              7.

              rs1477133868 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:36729460 (GRCh38)
                2:36956603 (GRCh37)
                Canonical SPDI:
                NC_000002.12:36729459:A:C
                Gene:
                VIT (Varview), LOC124905990 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.36729460A>C, NC_000002.11:g.36956603A>C, NG_050963.1:g.37776A>C, NM_053276.4:c.87A>C, NM_053276.3:c.87A>C, NM_001177972.3:c.87A>C, NM_001177972.2:c.87A>C, NM_001177972.1:c.87A>C, NM_001177969.2:c.87A>C, NM_001177969.1:c.87A>C, NM_001328661.2:c.87A>C, NM_001328661.1:c.87A>C, NM_001177970.2:c.87A>C, NM_001177970.1:c.87A>C, NM_001177971.2:c.87A>C, NM_001177971.1:c.87A>C, NM_001391966.1:c.87A>C, NM_001391967.1:c.87A>C, NM_001391968.1:c.87A>C, NM_001391969.1:c.87A>C, NM_001391970.1:c.87A>C, XM_011532906.3:c.87A>C, XM_011532906.2:c.87A>C, XM_011532906.1:c.87A>C, NP_444506.2:p.Glu29Asp, NP_001171443.1:p.Glu29Asp, NP_001171440.1:p.Glu29Asp, NP_001315590.1:p.Glu29Asp, NP_001171441.1:p.Glu29Asp, NP_001171442.1:p.Glu29Asp, NP_001378895.1:p.Glu29Asp, NP_001378896.1:p.Glu29Asp, NP_001378897.1:p.Glu29Asp, NP_001378898.1:p.Glu29Asp, NP_001378899.1:p.Glu29Asp, XP_011531208.1:p.Glu29Asp

                8.

                rs1476642135 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:36743201 (GRCh38)
                  2:36970344 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:36743200:T:C
                  Gene:
                  VIT (Varview), LOC124905990 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.36743201T>C, NC_000002.11:g.36970344T>C, NG_050963.1:g.51517T>C, NM_053276.4:c.220T>C, NM_053276.3:c.220T>C, NM_001177972.3:c.220T>C, NM_001177972.2:c.220T>C, NM_001177972.1:c.220T>C, NM_001177969.2:c.220T>C, NM_001177969.1:c.220T>C, NM_001328661.2:c.220T>C, NM_001328661.1:c.220T>C, NM_001177970.2:c.220T>C, NM_001177970.1:c.220T>C, NM_001177971.2:c.220T>C, NM_001177971.1:c.220T>C, NM_001391966.1:c.220T>C, NM_001391967.1:c.220T>C, NM_001391968.1:c.220T>C, NM_001391969.1:c.220T>C, NM_001391970.1:c.220T>C, XM_011532906.3:c.220T>C, XM_011532906.2:c.220T>C, XM_011532906.1:c.220T>C, XM_017004327.2:c.-333T>C, XM_017004327.1:c.-333T>C, NP_444506.2:p.Tyr74His, NP_001171443.1:p.Tyr74His, NP_001171440.1:p.Tyr74His, NP_001315590.1:p.Tyr74His, NP_001171441.1:p.Tyr74His, NP_001171442.1:p.Tyr74His, NP_001378895.1:p.Tyr74His, NP_001378896.1:p.Tyr74His, NP_001378897.1:p.Tyr74His, NP_001378898.1:p.Tyr74His, NP_001378899.1:p.Tyr74His, XP_011531208.1:p.Tyr74His

                  9.

                  rs1470234104 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    2:36759071 (GRCh38)
                    2:36986214 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:36759070:C:G
                    Gene:
                    VIT (Varview), LOC124905990 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1468626074 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      2:36754943 (GRCh38)
                      2:36982086 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:36754942:G:A,NC_000002.12:36754942:G:C,NC_000002.12:36754942:G:T
                      Gene:
                      VIT (Varview), LOC124905990 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.36754943G>A, NC_000002.12:g.36754943G>C, NC_000002.12:g.36754943G>T, NC_000002.11:g.36982086G>A, NC_000002.11:g.36982086G>C, NC_000002.11:g.36982086G>T, NG_050963.1:g.63259G>A, NG_050963.1:g.63259G>C, NG_050963.1:g.63259G>T, NM_053276.4:c.298G>A, NM_053276.4:c.298G>C, NM_053276.4:c.298G>T, NM_053276.3:c.298G>A, NM_053276.3:c.298G>C, NM_053276.3:c.298G>T, NM_001177972.3:c.298G>A, NM_001177972.3:c.298G>C, NM_001177972.3:c.298G>T, NM_001177972.2:c.298G>A, NM_001177972.2:c.298G>C, NM_001177972.2:c.298G>T, NM_001177972.1:c.298G>A, NM_001177972.1:c.298G>C, NM_001177972.1:c.298G>T, NM_001177969.2:c.298G>A, NM_001177969.2:c.298G>C, NM_001177969.2:c.298G>T, NM_001177969.1:c.298G>A, NM_001177969.1:c.298G>C, NM_001177969.1:c.298G>T, NM_001328661.2:c.298G>A, NM_001328661.2:c.298G>C, NM_001328661.2:c.298G>T, NM_001328661.1:c.298G>A, NM_001328661.1:c.298G>C, NM_001328661.1:c.298G>T, NM_001177970.2:c.298G>A, NM_001177970.2:c.298G>C, NM_001177970.2:c.298G>T, NM_001177970.1:c.298G>A, NM_001177970.1:c.298G>C, NM_001177970.1:c.298G>T, NM_001177971.2:c.298G>A, NM_001177971.2:c.298G>C, NM_001177971.2:c.298G>T, NM_001177971.1:c.298G>A, NM_001177971.1:c.298G>C, NM_001177971.1:c.298G>T, NM_001391966.1:c.298G>A, NM_001391966.1:c.298G>C, NM_001391966.1:c.298G>T, NM_001391967.1:c.298G>A, NM_001391967.1:c.298G>C, NM_001391967.1:c.298G>T, NM_001391968.1:c.298G>A, NM_001391968.1:c.298G>C, NM_001391968.1:c.298G>T, NM_001391969.1:c.298G>A, NM_001391969.1:c.298G>C, NM_001391969.1:c.298G>T, NM_001391970.1:c.298G>A, NM_001391970.1:c.298G>C, NM_001391970.1:c.298G>T, XM_011532906.3:c.298G>A, XM_011532906.3:c.298G>C, XM_011532906.3:c.298G>T, XM_011532906.2:c.298G>A, XM_011532906.2:c.298G>C, XM_011532906.2:c.298G>T, XM_011532906.1:c.298G>A, XM_011532906.1:c.298G>C, XM_011532906.1:c.298G>T, XM_017004327.2:c.-255G>A, XM_017004327.2:c.-255G>C, XM_017004327.2:c.-255G>T, XM_017004327.1:c.-255G>A, XM_017004327.1:c.-255G>C, XM_017004327.1:c.-255G>T, NP_444506.2:p.Gly100Arg, NP_444506.2:p.Gly100Arg, NP_444506.2:p.Gly100Trp, NP_001171443.1:p.Gly100Arg, NP_001171443.1:p.Gly100Arg, NP_001171443.1:p.Gly100Trp, NP_001171440.1:p.Gly100Arg, NP_001171440.1:p.Gly100Arg, NP_001171440.1:p.Gly100Trp, NP_001315590.1:p.Gly100Arg, NP_001315590.1:p.Gly100Arg, NP_001315590.1:p.Gly100Trp, NP_001171441.1:p.Gly100Arg, NP_001171441.1:p.Gly100Arg, NP_001171441.1:p.Gly100Trp, NP_001171442.1:p.Gly100Arg, NP_001171442.1:p.Gly100Arg, NP_001171442.1:p.Gly100Trp, NP_001378895.1:p.Gly100Arg, NP_001378895.1:p.Gly100Arg, NP_001378895.1:p.Gly100Trp, NP_001378896.1:p.Gly100Arg, NP_001378896.1:p.Gly100Arg, NP_001378896.1:p.Gly100Trp, NP_001378897.1:p.Gly100Arg, NP_001378897.1:p.Gly100Arg, NP_001378897.1:p.Gly100Trp, NP_001378898.1:p.Gly100Arg, NP_001378898.1:p.Gly100Arg, NP_001378898.1:p.Gly100Trp, NP_001378899.1:p.Gly100Arg, NP_001378899.1:p.Gly100Arg, NP_001378899.1:p.Gly100Trp, XP_011531208.1:p.Gly100Arg, XP_011531208.1:p.Gly100Arg, XP_011531208.1:p.Gly100Trp

                      11.

                      rs1457651648 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:36759107 (GRCh38)
                        2:36986250 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:36759106:T:G
                        Gene:
                        VIT (Varview), LOC124905990 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_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=0.000011/3 (TOPMED)
                        HGVS:

                        12.

                        rs1445580176 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          2:36729450 (GRCh38)
                          2:36956593 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:36729449:C:G
                          Gene:
                          VIT (Varview), LOC124905990 (Varview)
                          Functional Consequence:
                          stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.36729450C>G, NC_000002.11:g.36956593C>G, NG_050963.1:g.37766C>G, NM_053276.4:c.77C>G, NM_053276.3:c.77C>G, NM_001177972.3:c.77C>G, NM_001177972.2:c.77C>G, NM_001177972.1:c.77C>G, NM_001177969.2:c.77C>G, NM_001177969.1:c.77C>G, NM_001328661.2:c.77C>G, NM_001328661.1:c.77C>G, NM_001177970.2:c.77C>G, NM_001177970.1:c.77C>G, NM_001177971.2:c.77C>G, NM_001177971.1:c.77C>G, NM_001391966.1:c.77C>G, NM_001391967.1:c.77C>G, NM_001391968.1:c.77C>G, NM_001391969.1:c.77C>G, NM_001391970.1:c.77C>G, XM_011532906.3:c.77C>G, XM_011532906.2:c.77C>G, XM_011532906.1:c.77C>G, NP_444506.2:p.Ser26Ter, NP_001171443.1:p.Ser26Ter, NP_001171440.1:p.Ser26Ter, NP_001315590.1:p.Ser26Ter, NP_001171441.1:p.Ser26Ter, NP_001171442.1:p.Ser26Ter, NP_001378895.1:p.Ser26Ter, NP_001378896.1:p.Ser26Ter, NP_001378897.1:p.Ser26Ter, NP_001378898.1:p.Ser26Ter, NP_001378899.1:p.Ser26Ter, XP_011531208.1:p.Ser26Ter

                          13.

                          rs1444266822 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:36743184 (GRCh38)
                            2:36970327 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:36743183:A:C
                            Gene:
                            VIT (Varview), LOC124905990 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_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:
                            NC_000002.12:g.36743184A>C, NC_000002.11:g.36970327A>C, NG_050963.1:g.51500A>C, NM_053276.4:c.203A>C, NM_053276.3:c.203A>C, NM_001177972.3:c.203A>C, NM_001177972.2:c.203A>C, NM_001177972.1:c.203A>C, NM_001177969.2:c.203A>C, NM_001177969.1:c.203A>C, NM_001328661.2:c.203A>C, NM_001328661.1:c.203A>C, NM_001177970.2:c.203A>C, NM_001177970.1:c.203A>C, NM_001177971.2:c.203A>C, NM_001177971.1:c.203A>C, NM_001391966.1:c.203A>C, NM_001391967.1:c.203A>C, NM_001391968.1:c.203A>C, NM_001391969.1:c.203A>C, NM_001391970.1:c.203A>C, XM_011532906.3:c.203A>C, XM_011532906.2:c.203A>C, XM_011532906.1:c.203A>C, XM_017004327.2:c.-350A>C, XM_017004327.1:c.-350A>C, NP_444506.2:p.Asp68Ala, NP_001171443.1:p.Asp68Ala, NP_001171440.1:p.Asp68Ala, NP_001315590.1:p.Asp68Ala, NP_001171441.1:p.Asp68Ala, NP_001171442.1:p.Asp68Ala, NP_001378895.1:p.Asp68Ala, NP_001378896.1:p.Asp68Ala, NP_001378897.1:p.Asp68Ala, NP_001378898.1:p.Asp68Ala, NP_001378899.1:p.Asp68Ala, XP_011531208.1:p.Asp68Ala

                            14.

                            rs1444188764 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:36743240 (GRCh38)
                              2:36970383 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:36743239:G:A
                              Gene:
                              VIT (Varview), LOC124905990 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.36743240G>A, NC_000002.11:g.36970383G>A, NG_050963.1:g.51556G>A, NM_053276.4:c.259G>A, NM_053276.3:c.259G>A, NM_001177972.3:c.259G>A, NM_001177972.2:c.259G>A, NM_001177972.1:c.259G>A, NM_001177969.2:c.259G>A, NM_001177969.1:c.259G>A, NM_001328661.2:c.259G>A, NM_001328661.1:c.259G>A, NM_001177970.2:c.259G>A, NM_001177970.1:c.259G>A, NM_001177971.2:c.259G>A, NM_001177971.1:c.259G>A, NM_001391966.1:c.259G>A, NM_001391967.1:c.259G>A, NM_001391968.1:c.259G>A, NM_001391969.1:c.259G>A, NM_001391970.1:c.259G>A, XM_011532906.3:c.259G>A, XM_011532906.2:c.259G>A, XM_011532906.1:c.259G>A, XM_017004327.2:c.-294G>A, XM_017004327.1:c.-294G>A, NP_444506.2:p.Gly87Ser, NP_001171443.1:p.Gly87Ser, NP_001171440.1:p.Gly87Ser, NP_001315590.1:p.Gly87Ser, NP_001171441.1:p.Gly87Ser, NP_001171442.1:p.Gly87Ser, NP_001378895.1:p.Gly87Ser, NP_001378896.1:p.Gly87Ser, NP_001378897.1:p.Gly87Ser, NP_001378898.1:p.Gly87Ser, NP_001378899.1:p.Gly87Ser, XP_011531208.1:p.Gly87Ser

                              15.

                              rs1442895499 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:36759023 (GRCh38)
                                2:36986166 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:36759022:C:T
                                Gene:
                                VIT (Varview), LOC124905990 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000026/7 (TOPMED)
                                T=0.000029/4 (GnomAD)
                                HGVS:
                                NC_000002.12:g.36759023C>T, NC_000002.11:g.36986166C>T, NG_050963.1:g.67339C>T, NM_053276.4:c.464C>T, NM_053276.3:c.464C>T, NM_001177972.3:c.464C>T, NM_001177972.2:c.464C>T, NM_001177972.1:c.464C>T, NM_001177969.2:c.464C>T, NM_001177969.1:c.464C>T, NM_001328661.2:c.464C>T, NM_001328661.1:c.464C>T, NM_001177970.2:c.464C>T, NM_001177970.1:c.464C>T, NM_001177971.2:c.464C>T, NM_001177971.1:c.464C>T, NM_001391966.1:c.464C>T, NM_001391967.1:c.464C>T, NM_001391968.1:c.464C>T, NM_001391969.1:c.464C>T, NM_001391970.1:c.464C>T, XM_011532906.3:c.464C>T, XM_011532906.2:c.464C>T, XM_011532906.1:c.464C>T, XM_017004327.2:c.-89C>T, XM_017004327.1:c.-89C>T, NP_444506.2:p.Ser155Leu, NP_001171443.1:p.Ser155Leu, NP_001171440.1:p.Ser155Leu, NP_001315590.1:p.Ser155Leu, NP_001171441.1:p.Ser155Leu, NP_001171442.1:p.Ser155Leu, NP_001378895.1:p.Ser155Leu, NP_001378896.1:p.Ser155Leu, NP_001378897.1:p.Ser155Leu, NP_001378898.1:p.Ser155Leu, NP_001378899.1:p.Ser155Leu, XP_011531208.1:p.Ser155Leu

                                16.

                                rs1441475495 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:36754956 (GRCh38)
                                  2:36982099 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:36754955:T:C
                                  Gene:
                                  VIT (Varview), LOC124905990 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.36754956T>C, NC_000002.11:g.36982099T>C, NG_050963.1:g.63272T>C, NM_053276.4:c.311T>C, NM_053276.3:c.311T>C, NM_001177972.3:c.311T>C, NM_001177972.2:c.311T>C, NM_001177972.1:c.311T>C, NM_001177969.2:c.311T>C, NM_001177969.1:c.311T>C, NM_001328661.2:c.311T>C, NM_001328661.1:c.311T>C, NM_001177970.2:c.311T>C, NM_001177970.1:c.311T>C, NM_001177971.2:c.311T>C, NM_001177971.1:c.311T>C, NM_001391966.1:c.311T>C, NM_001391967.1:c.311T>C, NM_001391968.1:c.311T>C, NM_001391969.1:c.311T>C, NM_001391970.1:c.311T>C, XM_011532906.3:c.311T>C, XM_011532906.2:c.311T>C, XM_011532906.1:c.311T>C, XM_017004327.2:c.-242T>C, XM_017004327.1:c.-242T>C, NP_444506.2:p.Val104Ala, NP_001171443.1:p.Val104Ala, NP_001171440.1:p.Val104Ala, NP_001315590.1:p.Val104Ala, NP_001171441.1:p.Val104Ala, NP_001171442.1:p.Val104Ala, NP_001378895.1:p.Val104Ala, NP_001378896.1:p.Val104Ala, NP_001378897.1:p.Val104Ala, NP_001378898.1:p.Val104Ala, NP_001378899.1:p.Val104Ala, XP_011531208.1:p.Val104Ala

                                  17.

                                  rs1440204196 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    2:36759056 (GRCh38)
                                    2:36986199 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:36759055:C:A
                                    Gene:
                                    VIT (Varview), LOC124905990 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,stop_gained,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1436039332 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      2:36759083 (GRCh38)
                                      2:36986226 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:36759082:A:C
                                      Gene:
                                      VIT (Varview), LOC124905990 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1435721712 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:36759018 (GRCh38)
                                        2:36986161 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:36759017:A:G
                                        Gene:
                                        VIT (Varview), LOC124905990 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1423358496 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:36754960 (GRCh38)
                                          2:36982103 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:36754959:G:A
                                          Gene:
                                          VIT (Varview), LOC124905990 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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