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Items: 1 to 20 of 493

1.

rs1490711263 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    12:59775178 (GRCh38)
    12:60168959 (GRCh37)
    Canonical SPDI:
    NC_000012.12:59775177:T:C,NC_000012.12:59775177:T:G
    Gene:
    SLC16A7 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.59775178T>C, NC_000012.12:g.59775178T>G, NC_000012.11:g.60168959T>C, NC_000012.11:g.60168959T>G, NM_004731.5:c.883T>C, NM_004731.5:c.883T>G, NM_004731.4:c.883T>C, NM_004731.4:c.883T>G, XM_011538990.4:c.961T>C, XM_011538990.4:c.961T>G, XM_011538990.3:c.961T>C, XM_011538990.3:c.961T>G, XM_011538990.2:c.961T>C, XM_011538990.2:c.961T>G, XM_011538990.1:c.961T>C, XM_011538990.1:c.961T>G, XM_005269231.4:c.883T>C, XM_005269231.4:c.883T>G, XM_005269231.3:c.883T>C, XM_005269231.3:c.883T>G, XM_005269231.2:c.883T>C, XM_005269231.2:c.883T>G, XM_005269231.1:c.883T>C, XM_005269231.1:c.883T>G, XM_017020226.3:c.586T>C, XM_017020226.3:c.586T>G, XM_017020226.2:c.586T>C, XM_017020226.2:c.586T>G, XM_017020226.1:c.586T>C, XM_017020226.1:c.586T>G, XM_011538995.3:c.586T>C, XM_011538995.3:c.586T>G, XM_011538995.2:c.586T>C, XM_011538995.2:c.586T>G, XM_011538995.1:c.586T>C, XM_011538995.1:c.586T>G, XM_011538989.3:c.961T>C, XM_011538989.3:c.961T>G, XM_011538989.2:c.961T>C, XM_011538989.2:c.961T>G, XM_011538989.1:c.961T>C, XM_011538989.1:c.961T>G, XM_011538992.3:c.961T>C, XM_011538992.3:c.961T>G, XM_011538992.2:c.961T>C, XM_011538992.2:c.961T>G, XM_011538992.1:c.961T>C, XM_011538992.1:c.961T>G, XM_011538991.3:c.961T>C, XM_011538991.3:c.961T>G, XM_011538991.2:c.961T>C, XM_011538991.2:c.961T>G, XM_011538991.1:c.961T>C, XM_011538991.1:c.961T>G, NR_073055.2:n.1290T>C, NR_073055.2:n.1290T>G, NR_073055.1:n.1323T>C, NR_073055.1:n.1323T>G, NM_001270623.2:c.883T>C, NM_001270623.2:c.883T>G, NM_001270623.1:c.883T>C, NM_001270623.1:c.883T>G, NM_001270622.2:c.883T>C, NM_001270622.2:c.883T>G, NM_001270622.1:c.883T>C, NM_001270622.1:c.883T>G, NR_073056.2:n.1151T>C, NR_073056.2:n.1151T>G, NR_073056.1:n.1184T>C, NR_073056.1:n.1184T>G, XM_024449276.2:c.883T>C, XM_024449276.2:c.883T>G, XM_024449276.1:c.883T>C, XM_024449276.1:c.883T>G, XM_047429885.1:c.586T>C, XM_047429885.1:c.586T>G, NP_004722.2:p.Phe295Leu, NP_004722.2:p.Phe295Val, XP_011537292.1:p.Phe321Leu, XP_011537292.1:p.Phe321Val, XP_005269288.1:p.Phe295Leu, XP_005269288.1:p.Phe295Val, XP_016875715.1:p.Phe196Leu, XP_016875715.1:p.Phe196Val, XP_011537297.1:p.Phe196Leu, XP_011537297.1:p.Phe196Val, XP_011537291.1:p.Phe321Leu, XP_011537291.1:p.Phe321Val, XP_011537294.1:p.Phe321Leu, XP_011537294.1:p.Phe321Val, XP_011537293.1:p.Phe321Leu, XP_011537293.1:p.Phe321Val, NP_001257552.1:p.Phe295Leu, NP_001257552.1:p.Phe295Val, NP_001257551.1:p.Phe295Leu, NP_001257551.1:p.Phe295Val, XP_024305044.1:p.Phe295Leu, XP_024305044.1:p.Phe295Val, XP_047285841.1:p.Phe196Leu, XP_047285841.1:p.Phe196Val

    2.

    rs1490683240 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:59775246 (GRCh38)
      12:60169027 (GRCh37)
      Canonical SPDI:
      NC_000012.12:59775245:C:T
      Gene:
      SLC16A7 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000028/1 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (GnomAD_exomes)
      T=0.000011/3 (TOPMED)
      HGVS:
      NC_000012.12:g.59775246C>T, NC_000012.11:g.60169027C>T, NM_004731.5:c.951C>T, NM_004731.4:c.951C>T, XM_011538990.4:c.1029C>T, XM_011538990.3:c.1029C>T, XM_011538990.2:c.1029C>T, XM_011538990.1:c.1029C>T, XM_005269231.4:c.951C>T, XM_005269231.3:c.951C>T, XM_005269231.2:c.951C>T, XM_005269231.1:c.951C>T, XM_017020226.3:c.654C>T, XM_017020226.2:c.654C>T, XM_017020226.1:c.654C>T, XM_011538995.3:c.654C>T, XM_011538995.2:c.654C>T, XM_011538995.1:c.654C>T, XM_011538989.3:c.1029C>T, XM_011538989.2:c.1029C>T, XM_011538989.1:c.1029C>T, XM_011538992.3:c.1029C>T, XM_011538992.2:c.1029C>T, XM_011538992.1:c.1029C>T, XM_011538991.3:c.1029C>T, XM_011538991.2:c.1029C>T, XM_011538991.1:c.1029C>T, NR_073055.2:n.1358C>T, NR_073055.1:n.1391C>T, NM_001270623.2:c.951C>T, NM_001270623.1:c.951C>T, NM_001270622.2:c.951C>T, NM_001270622.1:c.951C>T, NR_073056.2:n.1219C>T, NR_073056.1:n.1252C>T, XM_024449276.2:c.951C>T, XM_024449276.1:c.951C>T, XM_047429885.1:c.654C>T

      3.

      rs1489593934 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        12:59775473 (GRCh38)
        12:60169254 (GRCh37)
        Canonical SPDI:
        NC_000012.12:59775472:C:A
        Gene:
        SLC16A7 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000012.12:g.59775473C>A, NC_000012.11:g.60169254C>A, NM_004731.5:c.1178C>A, NM_004731.4:c.1178C>A, XM_011538990.4:c.1256C>A, XM_011538990.3:c.1256C>A, XM_011538990.2:c.1256C>A, XM_011538990.1:c.1256C>A, XM_005269231.4:c.1178C>A, XM_005269231.3:c.1178C>A, XM_005269231.2:c.1178C>A, XM_005269231.1:c.1178C>A, XM_017020226.3:c.881C>A, XM_017020226.2:c.881C>A, XM_017020226.1:c.881C>A, XM_011538995.3:c.881C>A, XM_011538995.2:c.881C>A, XM_011538995.1:c.881C>A, XM_011538989.3:c.1256C>A, XM_011538989.2:c.1256C>A, XM_011538989.1:c.1256C>A, XM_011538992.3:c.1256C>A, XM_011538992.2:c.1256C>A, XM_011538992.1:c.1256C>A, XM_011538991.3:c.1256C>A, XM_011538991.2:c.1256C>A, XM_011538991.1:c.1256C>A, NR_073055.2:n.1585C>A, NR_073055.1:n.1618C>A, NM_001270623.2:c.1178C>A, NM_001270623.1:c.1178C>A, NM_001270622.2:c.1178C>A, NM_001270622.1:c.1178C>A, NR_073056.2:n.1446C>A, NR_073056.1:n.1479C>A, XM_024449276.2:c.1178C>A, XM_024449276.1:c.1178C>A, XM_047429885.1:c.881C>A, NP_004722.2:p.Ala393Glu, XP_011537292.1:p.Ala419Glu, XP_005269288.1:p.Ala393Glu, XP_016875715.1:p.Ala294Glu, XP_011537297.1:p.Ala294Glu, XP_011537291.1:p.Ala419Glu, XP_011537294.1:p.Ala419Glu, XP_011537293.1:p.Ala419Glu, NP_001257552.1:p.Ala393Glu, NP_001257551.1:p.Ala393Glu, XP_024305044.1:p.Ala393Glu, XP_047285841.1:p.Ala294Glu

        4.

        rs1484334525 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          12:59704844 (GRCh38)
          12:60098625 (GRCh37)
          Canonical SPDI:
          NC_000012.12:59704843:G:C
          Gene:
          SLC16A7 (Varview)
          Functional Consequence:
          upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.59704844G>C, NC_000012.11:g.60098625G>C, NM_004731.5:c.43G>C, NM_004731.4:c.43G>C, XM_011538990.4:c.43G>C, XM_011538990.3:c.43G>C, XM_011538990.2:c.43G>C, XM_011538990.1:c.43G>C, XM_005269231.4:c.43G>C, XM_005269231.3:c.43G>C, XM_005269231.2:c.43G>C, XM_005269231.1:c.43G>C, XM_011538989.3:c.43G>C, XM_011538989.2:c.43G>C, XM_011538989.1:c.43G>C, XM_011538992.3:c.43G>C, XM_011538992.2:c.43G>C, XM_011538992.1:c.43G>C, XM_011538991.3:c.43G>C, XM_011538991.2:c.43G>C, XM_011538991.1:c.43G>C, NR_073055.2:n.174G>C, NR_073055.1:n.207G>C, NM_001270623.2:c.43G>C, NM_001270623.1:c.43G>C, NM_001270622.2:c.43G>C, NM_001270622.1:c.43G>C, NR_073056.2:n.174G>C, NR_073056.1:n.207G>C, XM_024449276.2:c.43G>C, XM_024449276.1:c.43G>C, NP_004722.2:p.Asp15His, XP_011537292.1:p.Asp15His, XP_005269288.1:p.Asp15His, XP_011537291.1:p.Asp15His, XP_011537294.1:p.Asp15His, XP_011537293.1:p.Asp15His, NP_001257552.1:p.Asp15His, NP_001257551.1:p.Asp15His, XP_024305044.1:p.Asp15His

          5.

          rs1484120882 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:59704921 (GRCh38)
            12:60098702 (GRCh37)
            Canonical SPDI:
            NC_000012.12:59704920:C:T
            Gene:
            SLC16A7 (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000019/5 (TOPMED)
            HGVS:

            6.

            rs1483847083 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:59775264 (GRCh38)
              12:60169045 (GRCh37)
              Canonical SPDI:
              NC_000012.12:59775263:C:A
              Gene:
              SLC16A7 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              HGVS:
              NC_000012.12:g.59775264C>A, NC_000012.11:g.60169045C>A, NM_004731.5:c.969C>A, NM_004731.4:c.969C>A, XM_011538990.4:c.1047C>A, XM_011538990.3:c.1047C>A, XM_011538990.2:c.1047C>A, XM_011538990.1:c.1047C>A, XM_005269231.4:c.969C>A, XM_005269231.3:c.969C>A, XM_005269231.2:c.969C>A, XM_005269231.1:c.969C>A, XM_017020226.3:c.672C>A, XM_017020226.2:c.672C>A, XM_017020226.1:c.672C>A, XM_011538995.3:c.672C>A, XM_011538995.2:c.672C>A, XM_011538995.1:c.672C>A, XM_011538989.3:c.1047C>A, XM_011538989.2:c.1047C>A, XM_011538989.1:c.1047C>A, XM_011538992.3:c.1047C>A, XM_011538992.2:c.1047C>A, XM_011538992.1:c.1047C>A, XM_011538991.3:c.1047C>A, XM_011538991.2:c.1047C>A, XM_011538991.1:c.1047C>A, NR_073055.2:n.1376C>A, NR_073055.1:n.1409C>A, NM_001270623.2:c.969C>A, NM_001270623.1:c.969C>A, NM_001270622.2:c.969C>A, NM_001270622.1:c.969C>A, NR_073056.2:n.1237C>A, NR_073056.1:n.1270C>A, XM_024449276.2:c.969C>A, XM_024449276.1:c.969C>A, XM_047429885.1:c.672C>A, NP_004722.2:p.Phe323Leu, XP_011537292.1:p.Phe349Leu, XP_005269288.1:p.Phe323Leu, XP_016875715.1:p.Phe224Leu, XP_011537297.1:p.Phe224Leu, XP_011537291.1:p.Phe349Leu, XP_011537294.1:p.Phe349Leu, XP_011537293.1:p.Phe349Leu, NP_001257552.1:p.Phe323Leu, NP_001257551.1:p.Phe323Leu, XP_024305044.1:p.Phe323Leu, XP_047285841.1:p.Phe224Leu

              7.

              rs1483080927 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                12:59771351 (GRCh38)
                12:60165132 (GRCh37)
                Canonical SPDI:
                NC_000012.12:59771350:G:T
                Gene:
                SLC16A7 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.59771351G>T, NC_000012.11:g.60165132G>T, NM_004731.5:c.350G>T, NM_004731.4:c.350G>T, XM_011538990.4:c.428G>T, XM_011538990.3:c.428G>T, XM_011538990.2:c.428G>T, XM_011538990.1:c.428G>T, XM_005269231.4:c.350G>T, XM_005269231.3:c.350G>T, XM_005269231.2:c.350G>T, XM_005269231.1:c.350G>T, XM_017020226.3:c.53G>T, XM_017020226.2:c.53G>T, XM_017020226.1:c.53G>T, XM_011538995.3:c.53G>T, XM_011538995.2:c.53G>T, XM_011538995.1:c.53G>T, XM_011538989.3:c.428G>T, XM_011538989.2:c.428G>T, XM_011538989.1:c.428G>T, XM_011538992.3:c.428G>T, XM_011538992.2:c.428G>T, XM_011538992.1:c.428G>T, XM_011538991.3:c.428G>T, XM_011538991.2:c.428G>T, XM_011538991.1:c.428G>T, NR_073055.2:n.757G>T, NR_073055.1:n.790G>T, NM_001270623.2:c.350G>T, NM_001270623.1:c.350G>T, NM_001270622.2:c.350G>T, NM_001270622.1:c.350G>T, NR_073056.2:n.618G>T, NR_073056.1:n.651G>T, XM_024449276.2:c.350G>T, XM_024449276.1:c.350G>T, XM_047429885.1:c.53G>T, NP_004722.2:p.Gly117Val, XP_011537292.1:p.Gly143Val, XP_005269288.1:p.Gly117Val, XP_016875715.1:p.Gly18Val, XP_011537297.1:p.Gly18Val, XP_011537291.1:p.Gly143Val, XP_011537294.1:p.Gly143Val, XP_011537293.1:p.Gly143Val, NP_001257552.1:p.Gly117Val, NP_001257551.1:p.Gly117Val, XP_024305044.1:p.Gly117Val, XP_047285841.1:p.Gly18Val

                8.

                rs1479264088 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  12:59779507 (GRCh38)
                  12:60173288 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:59779506:T:A,NC_000012.12:59779506:T:C
                  Gene:
                  SLC16A7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000012.12:g.59779507T>A, NC_000012.12:g.59779507T>C, NC_000012.11:g.60173288T>A, NC_000012.11:g.60173288T>C, NM_004731.5:c.1265T>A, NM_004731.5:c.1265T>C, NM_004731.4:c.1265T>A, NM_004731.4:c.1265T>C, XM_011538990.4:c.1343T>A, XM_011538990.4:c.1343T>C, XM_011538990.3:c.1343T>A, XM_011538990.3:c.1343T>C, XM_011538990.2:c.1343T>A, XM_011538990.2:c.1343T>C, XM_011538990.1:c.1343T>A, XM_011538990.1:c.1343T>C, XM_005269231.4:c.1265T>A, XM_005269231.4:c.1265T>C, XM_005269231.3:c.1265T>A, XM_005269231.3:c.1265T>C, XM_005269231.2:c.1265T>A, XM_005269231.2:c.1265T>C, XM_005269231.1:c.1265T>A, XM_005269231.1:c.1265T>C, XM_017020226.3:c.968T>A, XM_017020226.3:c.968T>C, XM_017020226.2:c.968T>A, XM_017020226.2:c.968T>C, XM_017020226.1:c.968T>A, XM_017020226.1:c.968T>C, XM_011538995.3:c.968T>A, XM_011538995.3:c.968T>C, XM_011538995.2:c.968T>A, XM_011538995.2:c.968T>C, XM_011538995.1:c.968T>A, XM_011538995.1:c.968T>C, XM_011538989.3:c.1343T>A, XM_011538989.3:c.1343T>C, XM_011538989.2:c.1343T>A, XM_011538989.2:c.1343T>C, XM_011538989.1:c.1343T>A, XM_011538989.1:c.1343T>C, XM_011538992.3:c.1343T>A, XM_011538992.3:c.1343T>C, XM_011538992.2:c.1343T>A, XM_011538992.2:c.1343T>C, XM_011538992.1:c.1343T>A, XM_011538992.1:c.1343T>C, XM_011538991.3:c.1343T>A, XM_011538991.3:c.1343T>C, XM_011538991.2:c.1343T>A, XM_011538991.2:c.1343T>C, XM_011538991.1:c.1343T>A, XM_011538991.1:c.1343T>C, NR_073055.2:n.1672T>A, NR_073055.2:n.1672T>C, NR_073055.1:n.1705T>A, NR_073055.1:n.1705T>C, NM_001270623.2:c.1265T>A, NM_001270623.2:c.1265T>C, NM_001270623.1:c.1265T>A, NM_001270623.1:c.1265T>C, NM_001270622.2:c.1265T>A, NM_001270622.2:c.1265T>C, NM_001270622.1:c.1265T>A, NM_001270622.1:c.1265T>C, NR_073056.2:n.1533T>A, NR_073056.2:n.1533T>C, NR_073056.1:n.1566T>A, NR_073056.1:n.1566T>C, XM_024449276.2:c.1265T>A, XM_024449276.2:c.1265T>C, XM_024449276.1:c.1265T>A, XM_024449276.1:c.1265T>C, XM_047429885.1:c.968T>A, XM_047429885.1:c.968T>C, NP_004722.2:p.Leu422His, NP_004722.2:p.Leu422Pro, XP_011537292.1:p.Leu448His, XP_011537292.1:p.Leu448Pro, XP_005269288.1:p.Leu422His, XP_005269288.1:p.Leu422Pro, XP_016875715.1:p.Leu323His, XP_016875715.1:p.Leu323Pro, XP_011537297.1:p.Leu323His, XP_011537297.1:p.Leu323Pro, XP_011537291.1:p.Leu448His, XP_011537291.1:p.Leu448Pro, XP_011537294.1:p.Leu448His, XP_011537294.1:p.Leu448Pro, XP_011537293.1:p.Leu448His, XP_011537293.1:p.Leu448Pro, NP_001257552.1:p.Leu422His, NP_001257552.1:p.Leu422Pro, NP_001257551.1:p.Leu422His, NP_001257551.1:p.Leu422Pro, XP_024305044.1:p.Leu422His, XP_024305044.1:p.Leu422Pro, XP_047285841.1:p.Leu323His, XP_047285841.1:p.Leu323Pro

                  9.

                  rs1478701162 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:59771224 (GRCh38)
                    12:60165005 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:59771223:G:A
                    Gene:
                    SLC16A7 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                    HGVS:
                    NC_000012.12:g.59771224G>A, NC_000012.11:g.60165005G>A, NM_004731.5:c.223G>A, NM_004731.4:c.223G>A, XM_011538990.4:c.301G>A, XM_011538990.3:c.301G>A, XM_011538990.2:c.301G>A, XM_011538990.1:c.301G>A, XM_005269231.4:c.223G>A, XM_005269231.3:c.223G>A, XM_005269231.2:c.223G>A, XM_005269231.1:c.223G>A, XM_017020226.3:c.-75G>A, XM_017020226.2:c.-75G>A, XM_017020226.1:c.-75G>A, XM_011538995.3:c.-75G>A, XM_011538995.2:c.-75G>A, XM_011538995.1:c.-75G>A, XM_011538989.3:c.301G>A, XM_011538989.2:c.301G>A, XM_011538989.1:c.301G>A, XM_011538992.3:c.301G>A, XM_011538992.2:c.301G>A, XM_011538992.1:c.301G>A, XM_011538991.3:c.301G>A, XM_011538991.2:c.301G>A, XM_011538991.1:c.301G>A, NR_073055.2:n.630G>A, NR_073055.1:n.663G>A, NM_001270623.2:c.223G>A, NM_001270623.1:c.223G>A, NM_001270622.2:c.223G>A, NM_001270622.1:c.223G>A, NR_073056.2:n.491G>A, NR_073056.1:n.524G>A, XM_024449276.2:c.223G>A, XM_024449276.1:c.223G>A, XM_047429885.1:c.-75G>A, NP_004722.2:p.Val75Ile, XP_011537292.1:p.Val101Ile, XP_005269288.1:p.Val75Ile, XP_011537291.1:p.Val101Ile, XP_011537294.1:p.Val101Ile, XP_011537293.1:p.Val101Ile, NP_001257552.1:p.Val75Ile, NP_001257551.1:p.Val75Ile, XP_024305044.1:p.Val75Ile

                    10.

                    rs1477609581 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      12:59775425 (GRCh38)
                      12:60169206 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:59775424:T:G
                      Gene:
                      SLC16A7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.59775425T>G, NC_000012.11:g.60169206T>G, NM_004731.5:c.1130T>G, NM_004731.4:c.1130T>G, XM_011538990.4:c.1208T>G, XM_011538990.3:c.1208T>G, XM_011538990.2:c.1208T>G, XM_011538990.1:c.1208T>G, XM_005269231.4:c.1130T>G, XM_005269231.3:c.1130T>G, XM_005269231.2:c.1130T>G, XM_005269231.1:c.1130T>G, XM_017020226.3:c.833T>G, XM_017020226.2:c.833T>G, XM_017020226.1:c.833T>G, XM_011538995.3:c.833T>G, XM_011538995.2:c.833T>G, XM_011538995.1:c.833T>G, XM_011538989.3:c.1208T>G, XM_011538989.2:c.1208T>G, XM_011538989.1:c.1208T>G, XM_011538992.3:c.1208T>G, XM_011538992.2:c.1208T>G, XM_011538992.1:c.1208T>G, XM_011538991.3:c.1208T>G, XM_011538991.2:c.1208T>G, XM_011538991.1:c.1208T>G, NR_073055.2:n.1537T>G, NR_073055.1:n.1570T>G, NM_001270623.2:c.1130T>G, NM_001270623.1:c.1130T>G, NM_001270622.2:c.1130T>G, NM_001270622.1:c.1130T>G, NR_073056.2:n.1398T>G, NR_073056.1:n.1431T>G, XM_024449276.2:c.1130T>G, XM_024449276.1:c.1130T>G, XM_047429885.1:c.833T>G, NP_004722.2:p.Leu377Arg, XP_011537292.1:p.Leu403Arg, XP_005269288.1:p.Leu377Arg, XP_016875715.1:p.Leu278Arg, XP_011537297.1:p.Leu278Arg, XP_011537291.1:p.Leu403Arg, XP_011537294.1:p.Leu403Arg, XP_011537293.1:p.Leu403Arg, NP_001257552.1:p.Leu377Arg, NP_001257551.1:p.Leu377Arg, XP_024305044.1:p.Leu377Arg, XP_047285841.1:p.Leu278Arg

                      11.

                      rs1476635604 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:59779612 (GRCh38)
                        12:60173393 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:59779611:C:T
                        Gene:
                        SLC16A7 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000012/3 (GnomAD_exomes)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000012.12:g.59779612C>T, NC_000012.11:g.60173393C>T, NM_004731.5:c.1370C>T, NM_004731.4:c.1370C>T, XM_011538990.4:c.1448C>T, XM_011538990.3:c.1448C>T, XM_011538990.2:c.1448C>T, XM_011538990.1:c.1448C>T, XM_005269231.4:c.1370C>T, XM_005269231.3:c.1370C>T, XM_005269231.2:c.1370C>T, XM_005269231.1:c.1370C>T, XM_017020226.3:c.1073C>T, XM_017020226.2:c.1073C>T, XM_017020226.1:c.1073C>T, XM_011538995.3:c.1073C>T, XM_011538995.2:c.1073C>T, XM_011538995.1:c.1073C>T, XM_011538989.3:c.1448C>T, XM_011538989.2:c.1448C>T, XM_011538989.1:c.1448C>T, XM_011538992.3:c.1448C>T, XM_011538992.2:c.1448C>T, XM_011538992.1:c.1448C>T, XM_011538991.3:c.1448C>T, XM_011538991.2:c.1448C>T, XM_011538991.1:c.1448C>T, NR_073055.2:n.1777C>T, NR_073055.1:n.1810C>T, NM_001270623.2:c.1370C>T, NM_001270623.1:c.1370C>T, NM_001270622.2:c.1370C>T, NM_001270622.1:c.1370C>T, NR_073056.2:n.1638C>T, NR_073056.1:n.1671C>T, XM_024449276.2:c.1370C>T, XM_024449276.1:c.1370C>T, XM_047429885.1:c.1073C>T, NP_004722.2:p.Ser457Leu, XP_011537292.1:p.Ser483Leu, XP_005269288.1:p.Ser457Leu, XP_016875715.1:p.Ser358Leu, XP_011537297.1:p.Ser358Leu, XP_011537291.1:p.Ser483Leu, XP_011537294.1:p.Ser483Leu, XP_011537293.1:p.Ser483Leu, NP_001257552.1:p.Ser457Leu, NP_001257551.1:p.Ser457Leu, XP_024305044.1:p.Ser457Leu, XP_047285841.1:p.Ser358Leu

                        12.

                        rs1474641731 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:59775451 (GRCh38)
                          12:60169232 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:59775450:G:A
                          Gene:
                          SLC16A7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000012.12:g.59775451G>A, NC_000012.11:g.60169232G>A, NM_004731.5:c.1156G>A, NM_004731.4:c.1156G>A, XM_011538990.4:c.1234G>A, XM_011538990.3:c.1234G>A, XM_011538990.2:c.1234G>A, XM_011538990.1:c.1234G>A, XM_005269231.4:c.1156G>A, XM_005269231.3:c.1156G>A, XM_005269231.2:c.1156G>A, XM_005269231.1:c.1156G>A, XM_017020226.3:c.859G>A, XM_017020226.2:c.859G>A, XM_017020226.1:c.859G>A, XM_011538995.3:c.859G>A, XM_011538995.2:c.859G>A, XM_011538995.1:c.859G>A, XM_011538989.3:c.1234G>A, XM_011538989.2:c.1234G>A, XM_011538989.1:c.1234G>A, XM_011538992.3:c.1234G>A, XM_011538992.2:c.1234G>A, XM_011538992.1:c.1234G>A, XM_011538991.3:c.1234G>A, XM_011538991.2:c.1234G>A, XM_011538991.1:c.1234G>A, NR_073055.2:n.1563G>A, NR_073055.1:n.1596G>A, NM_001270623.2:c.1156G>A, NM_001270623.1:c.1156G>A, NM_001270622.2:c.1156G>A, NM_001270622.1:c.1156G>A, NR_073056.2:n.1424G>A, NR_073056.1:n.1457G>A, XM_024449276.2:c.1156G>A, XM_024449276.1:c.1156G>A, XM_047429885.1:c.859G>A, NP_004722.2:p.Val386Ile, XP_011537292.1:p.Val412Ile, XP_005269288.1:p.Val386Ile, XP_016875715.1:p.Val287Ile, XP_011537297.1:p.Val287Ile, XP_011537291.1:p.Val412Ile, XP_011537294.1:p.Val412Ile, XP_011537293.1:p.Val412Ile, NP_001257552.1:p.Val386Ile, NP_001257551.1:p.Val386Ile, XP_024305044.1:p.Val386Ile, XP_047285841.1:p.Val287Ile

                          13.

                          rs1473226592 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            12:59779613 (GRCh38)
                            12:60173394 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:59779612:GG:G
                            Gene:
                            SLC16A7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000012.12:g.59779614del, NC_000012.11:g.60173395del, NM_004731.5:c.1372del, NM_004731.4:c.1372del, XM_011538990.4:c.1450del, XM_011538990.3:c.1450del, XM_011538990.2:c.1450del, XM_011538990.1:c.1450del, XM_005269231.4:c.1372del, XM_005269231.3:c.1372del, XM_005269231.2:c.1372del, XM_005269231.1:c.1372del, XM_017020226.3:c.1075del, XM_017020226.2:c.1075del, XM_017020226.1:c.1075del, XM_011538995.3:c.1075del, XM_011538995.2:c.1075del, XM_011538995.1:c.1075del, XM_011538989.3:c.1450del, XM_011538989.2:c.1450del, XM_011538989.1:c.1450del, XM_011538992.3:c.1450del, XM_011538992.2:c.1450del, XM_011538992.1:c.1450del, XM_011538991.3:c.1450del, XM_011538991.2:c.1450del, XM_011538991.1:c.1450del, NR_073055.2:n.1779del, NR_073055.1:n.1812del, NM_001270623.2:c.1372del, NM_001270623.1:c.1372del, NM_001270622.2:c.1372del, NM_001270622.1:c.1372del, NR_073056.2:n.1640del, NR_073056.1:n.1673del, XM_024449276.2:c.1372del, XM_024449276.1:c.1372del, XM_047429885.1:c.1075del, NP_004722.2:p.Glu458fs, XP_011537292.1:p.Glu484fs, XP_005269288.1:p.Glu458fs, XP_016875715.1:p.Glu359fs, XP_011537297.1:p.Glu359fs, XP_011537291.1:p.Glu484fs, XP_011537294.1:p.Glu484fs, XP_011537293.1:p.Glu484fs, NP_001257552.1:p.Glu458fs, NP_001257551.1:p.Glu458fs, XP_024305044.1:p.Glu458fs, XP_047285841.1:p.Glu359fs

                            14.

                            rs1473111651 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              12:59779591 (GRCh38)
                              12:60173372 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:59779590:C:G
                              Gene:
                              SLC16A7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000012.12:g.59779591C>G, NC_000012.11:g.60173372C>G, NM_004731.5:c.1349C>G, NM_004731.4:c.1349C>G, XM_011538990.4:c.1427C>G, XM_011538990.3:c.1427C>G, XM_011538990.2:c.1427C>G, XM_011538990.1:c.1427C>G, XM_005269231.4:c.1349C>G, XM_005269231.3:c.1349C>G, XM_005269231.2:c.1349C>G, XM_005269231.1:c.1349C>G, XM_017020226.3:c.1052C>G, XM_017020226.2:c.1052C>G, XM_017020226.1:c.1052C>G, XM_011538995.3:c.1052C>G, XM_011538995.2:c.1052C>G, XM_011538995.1:c.1052C>G, XM_011538989.3:c.1427C>G, XM_011538989.2:c.1427C>G, XM_011538989.1:c.1427C>G, XM_011538992.3:c.1427C>G, XM_011538992.2:c.1427C>G, XM_011538992.1:c.1427C>G, XM_011538991.3:c.1427C>G, XM_011538991.2:c.1427C>G, XM_011538991.1:c.1427C>G, NR_073055.2:n.1756C>G, NR_073055.1:n.1789C>G, NM_001270623.2:c.1349C>G, NM_001270623.1:c.1349C>G, NM_001270622.2:c.1349C>G, NM_001270622.1:c.1349C>G, NR_073056.2:n.1617C>G, NR_073056.1:n.1650C>G, XM_024449276.2:c.1349C>G, XM_024449276.1:c.1349C>G, XM_047429885.1:c.1052C>G, NP_004722.2:p.Pro450Arg, XP_011537292.1:p.Pro476Arg, XP_005269288.1:p.Pro450Arg, XP_016875715.1:p.Pro351Arg, XP_011537297.1:p.Pro351Arg, XP_011537291.1:p.Pro476Arg, XP_011537294.1:p.Pro476Arg, XP_011537293.1:p.Pro476Arg, NP_001257552.1:p.Pro450Arg, NP_001257551.1:p.Pro450Arg, XP_024305044.1:p.Pro450Arg, XP_047285841.1:p.Pro351Arg

                              15.

                              rs1472909763 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:59774910 (GRCh38)
                                12:60168691 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:59774909:T:C
                                Gene:
                                SLC16A7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000012.12:g.59774910T>C, NC_000012.11:g.60168691T>C, NM_004731.5:c.615T>C, NM_004731.4:c.615T>C, XM_011538990.4:c.693T>C, XM_011538990.3:c.693T>C, XM_011538990.2:c.693T>C, XM_011538990.1:c.693T>C, XM_005269231.4:c.615T>C, XM_005269231.3:c.615T>C, XM_005269231.2:c.615T>C, XM_005269231.1:c.615T>C, XM_017020226.3:c.318T>C, XM_017020226.2:c.318T>C, XM_017020226.1:c.318T>C, XM_011538995.3:c.318T>C, XM_011538995.2:c.318T>C, XM_011538995.1:c.318T>C, XM_011538989.3:c.693T>C, XM_011538989.2:c.693T>C, XM_011538989.1:c.693T>C, XM_011538992.3:c.693T>C, XM_011538992.2:c.693T>C, XM_011538992.1:c.693T>C, XM_011538991.3:c.693T>C, XM_011538991.2:c.693T>C, XM_011538991.1:c.693T>C, NR_073055.2:n.1022T>C, NR_073055.1:n.1055T>C, NM_001270623.2:c.615T>C, NM_001270623.1:c.615T>C, NM_001270622.2:c.615T>C, NM_001270622.1:c.615T>C, NR_073056.2:n.883T>C, NR_073056.1:n.916T>C, XM_024449276.2:c.615T>C, XM_024449276.1:c.615T>C, XM_047429885.1:c.318T>C

                                16.

                                rs1472456458 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:59704950 (GRCh38)
                                  12:60098731 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:59704949:T:C
                                  Gene:
                                  SLC16A7 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.59704950T>C, NC_000012.11:g.60098731T>C, NM_004731.5:c.149T>C, NM_004731.4:c.149T>C, XM_011538990.4:c.149T>C, XM_011538990.3:c.149T>C, XM_011538990.2:c.149T>C, XM_011538990.1:c.149T>C, XM_005269231.4:c.149T>C, XM_005269231.3:c.149T>C, XM_005269231.2:c.149T>C, XM_005269231.1:c.149T>C, XM_011538989.3:c.149T>C, XM_011538989.2:c.149T>C, XM_011538989.1:c.149T>C, XM_011538992.3:c.149T>C, XM_011538992.2:c.149T>C, XM_011538992.1:c.149T>C, XM_011538991.3:c.149T>C, XM_011538991.2:c.149T>C, XM_011538991.1:c.149T>C, NR_073055.2:n.280T>C, NR_073055.1:n.313T>C, NM_001270623.2:c.149T>C, NM_001270623.1:c.149T>C, NM_001270622.2:c.149T>C, NM_001270622.1:c.149T>C, NR_073056.2:n.280T>C, NR_073056.1:n.313T>C, XM_024449276.2:c.149T>C, XM_024449276.1:c.149T>C, NP_004722.2:p.Ile50Thr, XP_011537292.1:p.Ile50Thr, XP_005269288.1:p.Ile50Thr, XP_011537291.1:p.Ile50Thr, XP_011537294.1:p.Ile50Thr, XP_011537293.1:p.Ile50Thr, NP_001257552.1:p.Ile50Thr, NP_001257551.1:p.Ile50Thr, XP_024305044.1:p.Ile50Thr

                                  17.

                                  rs1470472950 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    12:59775061 (GRCh38)
                                    12:60168842 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:59775060:A:G,NC_000012.12:59775060:A:T
                                    Gene:
                                    SLC16A7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.59775061A>G, NC_000012.12:g.59775061A>T, NC_000012.11:g.60168842A>G, NC_000012.11:g.60168842A>T, NM_004731.5:c.766A>G, NM_004731.5:c.766A>T, NM_004731.4:c.766A>G, NM_004731.4:c.766A>T, XM_011538990.4:c.844A>G, XM_011538990.4:c.844A>T, XM_011538990.3:c.844A>G, XM_011538990.3:c.844A>T, XM_011538990.2:c.844A>G, XM_011538990.2:c.844A>T, XM_011538990.1:c.844A>G, XM_011538990.1:c.844A>T, XM_005269231.4:c.766A>G, XM_005269231.4:c.766A>T, XM_005269231.3:c.766A>G, XM_005269231.3:c.766A>T, XM_005269231.2:c.766A>G, XM_005269231.2:c.766A>T, XM_005269231.1:c.766A>G, XM_005269231.1:c.766A>T, XM_017020226.3:c.469A>G, XM_017020226.3:c.469A>T, XM_017020226.2:c.469A>G, XM_017020226.2:c.469A>T, XM_017020226.1:c.469A>G, XM_017020226.1:c.469A>T, XM_011538995.3:c.469A>G, XM_011538995.3:c.469A>T, XM_011538995.2:c.469A>G, XM_011538995.2:c.469A>T, XM_011538995.1:c.469A>G, XM_011538995.1:c.469A>T, XM_011538989.3:c.844A>G, XM_011538989.3:c.844A>T, XM_011538989.2:c.844A>G, XM_011538989.2:c.844A>T, XM_011538989.1:c.844A>G, XM_011538989.1:c.844A>T, XM_011538992.3:c.844A>G, XM_011538992.3:c.844A>T, XM_011538992.2:c.844A>G, XM_011538992.2:c.844A>T, XM_011538992.1:c.844A>G, XM_011538992.1:c.844A>T, XM_011538991.3:c.844A>G, XM_011538991.3:c.844A>T, XM_011538991.2:c.844A>G, XM_011538991.2:c.844A>T, XM_011538991.1:c.844A>G, XM_011538991.1:c.844A>T, NR_073055.2:n.1173A>G, NR_073055.2:n.1173A>T, NR_073055.1:n.1206A>G, NR_073055.1:n.1206A>T, NM_001270623.2:c.766A>G, NM_001270623.2:c.766A>T, NM_001270623.1:c.766A>G, NM_001270623.1:c.766A>T, NM_001270622.2:c.766A>G, NM_001270622.2:c.766A>T, NM_001270622.1:c.766A>G, NM_001270622.1:c.766A>T, NR_073056.2:n.1034A>G, NR_073056.2:n.1034A>T, NR_073056.1:n.1067A>G, NR_073056.1:n.1067A>T, XM_024449276.2:c.766A>G, XM_024449276.2:c.766A>T, XM_024449276.1:c.766A>G, XM_024449276.1:c.766A>T, XM_047429885.1:c.469A>G, XM_047429885.1:c.469A>T, NP_004722.2:p.Ile256Val, NP_004722.2:p.Ile256Phe, XP_011537292.1:p.Ile282Val, XP_011537292.1:p.Ile282Phe, XP_005269288.1:p.Ile256Val, XP_005269288.1:p.Ile256Phe, XP_016875715.1:p.Ile157Val, XP_016875715.1:p.Ile157Phe, XP_011537297.1:p.Ile157Val, XP_011537297.1:p.Ile157Phe, XP_011537291.1:p.Ile282Val, XP_011537291.1:p.Ile282Phe, XP_011537294.1:p.Ile282Val, XP_011537294.1:p.Ile282Phe, XP_011537293.1:p.Ile282Val, XP_011537293.1:p.Ile282Phe, NP_001257552.1:p.Ile256Val, NP_001257552.1:p.Ile256Phe, NP_001257551.1:p.Ile256Val, NP_001257551.1:p.Ile256Phe, XP_024305044.1:p.Ile256Val, XP_024305044.1:p.Ile256Phe, XP_047285841.1:p.Ile157Val, XP_047285841.1:p.Ile157Phe

                                    18.

                                    rs1468438585 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      12:59774738 (GRCh38)
                                      12:60168519 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:59774737:G:C
                                      Gene:
                                      SLC16A7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.59774738G>C, NC_000012.11:g.60168519G>C, NM_004731.5:c.443G>C, NM_004731.4:c.443G>C, XM_011538990.4:c.521G>C, XM_011538990.3:c.521G>C, XM_011538990.2:c.521G>C, XM_011538990.1:c.521G>C, XM_005269231.4:c.443G>C, XM_005269231.3:c.443G>C, XM_005269231.2:c.443G>C, XM_005269231.1:c.443G>C, XM_017020226.3:c.146G>C, XM_017020226.2:c.146G>C, XM_017020226.1:c.146G>C, XM_011538995.3:c.146G>C, XM_011538995.2:c.146G>C, XM_011538995.1:c.146G>C, XM_011538989.3:c.521G>C, XM_011538989.2:c.521G>C, XM_011538989.1:c.521G>C, XM_011538992.3:c.521G>C, XM_011538992.2:c.521G>C, XM_011538992.1:c.521G>C, XM_011538991.3:c.521G>C, XM_011538991.2:c.521G>C, XM_011538991.1:c.521G>C, NR_073055.2:n.850G>C, NR_073055.1:n.883G>C, NM_001270623.2:c.443G>C, NM_001270623.1:c.443G>C, NM_001270622.2:c.443G>C, NM_001270622.1:c.443G>C, NR_073056.2:n.711G>C, NR_073056.1:n.744G>C, XM_024449276.2:c.443G>C, XM_024449276.1:c.443G>C, XM_047429885.1:c.146G>C, NP_004722.2:p.Gly148Ala, XP_011537292.1:p.Gly174Ala, XP_005269288.1:p.Gly148Ala, XP_016875715.1:p.Gly49Ala, XP_011537297.1:p.Gly49Ala, XP_011537291.1:p.Gly174Ala, XP_011537294.1:p.Gly174Ala, XP_011537293.1:p.Gly174Ala, NP_001257552.1:p.Gly148Ala, NP_001257551.1:p.Gly148Ala, XP_024305044.1:p.Gly148Ala, XP_047285841.1:p.Gly49Ala

                                      19.

                                      rs1467320443 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:59705009 (GRCh38)
                                        12:60098790 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:59705008:T:C
                                        Gene:
                                        SLC16A7 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_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_000012.12:g.59705009T>C, NC_000012.11:g.60098790T>C, NM_004731.5:c.208T>C, NM_004731.4:c.208T>C, XM_011538990.4:c.208T>C, XM_011538990.3:c.208T>C, XM_011538990.2:c.208T>C, XM_011538990.1:c.208T>C, XM_005269231.4:c.208T>C, XM_005269231.3:c.208T>C, XM_005269231.2:c.208T>C, XM_005269231.1:c.208T>C, XM_017020226.3:c.-1201T>C, XM_017020226.2:c.-1201T>C, XM_017020226.1:c.-1201T>C, XM_011538989.3:c.208T>C, XM_011538989.2:c.208T>C, XM_011538989.1:c.208T>C, XM_011538992.3:c.208T>C, XM_011538992.2:c.208T>C, XM_011538992.1:c.208T>C, XM_011538991.3:c.208T>C, XM_011538991.2:c.208T>C, XM_011538991.1:c.208T>C, NR_073055.2:n.339T>C, NR_073055.1:n.372T>C, NM_001270623.2:c.208T>C, NM_001270623.1:c.208T>C, NM_001270622.2:c.208T>C, NM_001270622.1:c.208T>C, NR_073056.2:n.339T>C, NR_073056.1:n.372T>C, XM_024449276.2:c.208T>C, XM_024449276.1:c.208T>C, NP_004722.2:p.Tyr70His, XP_011537292.1:p.Tyr70His, XP_005269288.1:p.Tyr70His, XP_011537291.1:p.Tyr70His, XP_011537294.1:p.Tyr70His, XP_011537293.1:p.Tyr70His, NP_001257552.1:p.Tyr70His, NP_001257551.1:p.Tyr70His, XP_024305044.1:p.Tyr70His

                                        20.

                                        rs1464847614 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:59775373 (GRCh38)
                                          12:60169154 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:59775372:G:A
                                          Gene:
                                          SLC16A7 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.59775373G>A, NC_000012.11:g.60169154G>A, NM_004731.5:c.1078G>A, NM_004731.4:c.1078G>A, XM_011538990.4:c.1156G>A, XM_011538990.3:c.1156G>A, XM_011538990.2:c.1156G>A, XM_011538990.1:c.1156G>A, XM_005269231.4:c.1078G>A, XM_005269231.3:c.1078G>A, XM_005269231.2:c.1078G>A, XM_005269231.1:c.1078G>A, XM_017020226.3:c.781G>A, XM_017020226.2:c.781G>A, XM_017020226.1:c.781G>A, XM_011538995.3:c.781G>A, XM_011538995.2:c.781G>A, XM_011538995.1:c.781G>A, XM_011538989.3:c.1156G>A, XM_011538989.2:c.1156G>A, XM_011538989.1:c.1156G>A, XM_011538992.3:c.1156G>A, XM_011538992.2:c.1156G>A, XM_011538992.1:c.1156G>A, XM_011538991.3:c.1156G>A, XM_011538991.2:c.1156G>A, XM_011538991.1:c.1156G>A, NR_073055.2:n.1485G>A, NR_073055.1:n.1518G>A, NM_001270623.2:c.1078G>A, NM_001270623.1:c.1078G>A, NM_001270622.2:c.1078G>A, NM_001270622.1:c.1078G>A, NR_073056.2:n.1346G>A, NR_073056.1:n.1379G>A, XM_024449276.2:c.1078G>A, XM_024449276.1:c.1078G>A, XM_047429885.1:c.781G>A, NP_004722.2:p.Glu360Lys, XP_011537292.1:p.Glu386Lys, XP_005269288.1:p.Glu360Lys, XP_016875715.1:p.Glu261Lys, XP_011537297.1:p.Glu261Lys, XP_011537291.1:p.Glu386Lys, XP_011537294.1:p.Glu386Lys, XP_011537293.1:p.Glu386Lys, NP_001257552.1:p.Glu360Lys, NP_001257551.1:p.Glu360Lys, XP_024305044.1:p.Glu360Lys, XP_047285841.1:p.Glu261Lys

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