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Links from Protein

Items: 1 to 20 of 345

3.

rs1487808625 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    13:48707049 (GRCh38)
    13:49281185 (GRCh37)
    Canonical SPDI:
    NC_000013.11:48707048:C:A,NC_000013.11:48707048:C:T
    Gene:
    CYSLTR2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000013.11:g.48707049C>A, NC_000013.11:g.48707049C>T, NC_000013.10:g.49281185C>A, NC_000013.10:g.49281185C>T, NG_051649.1:g.58339C>A, NG_051649.1:g.58339C>T, NM_020377.5:c.232C>A, NM_020377.5:c.232C>T, NM_020377.4:c.232C>A, NM_020377.4:c.232C>T, NM_020377.3:c.232C>A, NM_020377.3:c.232C>T, NM_020377.2:c.232C>A, NM_020377.2:c.232C>T, NM_001308465.3:c.232C>A, NM_001308465.3:c.232C>T, NM_001308465.2:c.232C>A, NM_001308465.2:c.232C>T, NM_001308465.1:c.232C>A, NM_001308465.1:c.232C>T, NM_001308467.3:c.232C>A, NM_001308467.3:c.232C>T, NM_001308467.2:c.232C>A, NM_001308467.2:c.232C>T, NM_001308467.1:c.232C>A, NM_001308467.1:c.232C>T, NM_001308476.3:c.232C>A, NM_001308476.3:c.232C>T, NM_001308476.2:c.232C>A, NM_001308476.2:c.232C>T, NM_001308476.1:c.232C>A, NM_001308476.1:c.232C>T, NM_001308468.3:c.232C>A, NM_001308468.3:c.232C>T, NM_001308468.2:c.232C>A, NM_001308468.2:c.232C>T, NM_001308468.1:c.232C>A, NM_001308468.1:c.232C>T, NM_001308469.3:c.232C>A, NM_001308469.3:c.232C>T, NM_001308469.2:c.232C>A, NM_001308469.2:c.232C>T, NM_001308469.1:c.232C>A, NM_001308469.1:c.232C>T, NM_001308470.3:c.232C>A, NM_001308470.3:c.232C>T, NM_001308470.2:c.232C>A, NM_001308470.2:c.232C>T, NM_001308470.1:c.232C>A, NM_001308470.1:c.232C>T, NM_001308471.3:c.232C>A, NM_001308471.3:c.232C>T, NM_001308471.2:c.232C>A, NM_001308471.2:c.232C>T, NM_001308471.1:c.232C>A, NM_001308471.1:c.232C>T, NM_001387014.1:c.232C>A, NM_001387014.1:c.232C>T, NM_001387013.1:c.232C>A, NM_001387013.1:c.232C>T, NM_001387012.1:c.232C>A, NM_001387012.1:c.232C>T, NP_065110.1:p.Leu78Ile, NP_001295394.1:p.Leu78Ile, NP_001295396.1:p.Leu78Ile, NP_001295405.1:p.Leu78Ile, NP_001295397.1:p.Leu78Ile, NP_001295398.1:p.Leu78Ile, NP_001295399.1:p.Leu78Ile, NP_001295400.1:p.Leu78Ile, NP_001373943.1:p.Leu78Ile, NP_001373942.1:p.Leu78Ile, NP_001373941.1:p.Leu78Ile
    10.

    rs1477558002 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      13:48707689 (GRCh38)
      13:49281825 (GRCh37)
      Canonical SPDI:
      NC_000013.11:48707688:T:A,NC_000013.11:48707688:T:C
      Gene:
      CYSLTR2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      A=0.000342/1 (KOREAN)
      A=0.000546/1 (Korea1K)
      HGVS:
      NC_000013.11:g.48707689T>A, NC_000013.11:g.48707689T>C, NC_000013.10:g.49281825T>A, NC_000013.10:g.49281825T>C, NG_051649.1:g.58979T>A, NG_051649.1:g.58979T>C, NM_020377.5:c.872T>A, NM_020377.5:c.872T>C, NM_020377.4:c.872T>A, NM_020377.4:c.872T>C, NM_020377.3:c.872T>A, NM_020377.3:c.872T>C, NM_020377.2:c.872T>A, NM_020377.2:c.872T>C, NM_001308465.3:c.872T>A, NM_001308465.3:c.872T>C, NM_001308465.2:c.872T>A, NM_001308465.2:c.872T>C, NM_001308465.1:c.872T>A, NM_001308465.1:c.872T>C, NM_001308467.3:c.872T>A, NM_001308467.3:c.872T>C, NM_001308467.2:c.872T>A, NM_001308467.2:c.872T>C, NM_001308467.1:c.872T>A, NM_001308467.1:c.872T>C, NM_001308476.3:c.872T>A, NM_001308476.3:c.872T>C, NM_001308476.2:c.872T>A, NM_001308476.2:c.872T>C, NM_001308476.1:c.872T>A, NM_001308476.1:c.872T>C, NM_001308468.3:c.872T>A, NM_001308468.3:c.872T>C, NM_001308468.2:c.872T>A, NM_001308468.2:c.872T>C, NM_001308468.1:c.872T>A, NM_001308468.1:c.872T>C, NM_001308469.3:c.872T>A, NM_001308469.3:c.872T>C, NM_001308469.2:c.872T>A, NM_001308469.2:c.872T>C, NM_001308469.1:c.872T>A, NM_001308469.1:c.872T>C, NM_001308470.3:c.872T>A, NM_001308470.3:c.872T>C, NM_001308470.2:c.872T>A, NM_001308470.2:c.872T>C, NM_001308470.1:c.872T>A, NM_001308470.1:c.872T>C, NM_001308471.3:c.872T>A, NM_001308471.3:c.872T>C, NM_001308471.2:c.872T>A, NM_001308471.2:c.872T>C, NM_001308471.1:c.872T>A, NM_001308471.1:c.872T>C, NM_001387014.1:c.872T>A, NM_001387014.1:c.872T>C, NM_001387013.1:c.872T>A, NM_001387013.1:c.872T>C, NM_001387012.1:c.872T>A, NM_001387012.1:c.872T>C, NP_065110.1:p.Leu291Gln, NP_065110.1:p.Leu291Pro, NP_001295394.1:p.Leu291Gln, NP_001295394.1:p.Leu291Pro, NP_001295396.1:p.Leu291Gln, NP_001295396.1:p.Leu291Pro, NP_001295405.1:p.Leu291Gln, NP_001295405.1:p.Leu291Pro, NP_001295397.1:p.Leu291Gln, NP_001295397.1:p.Leu291Pro, NP_001295398.1:p.Leu291Gln, NP_001295398.1:p.Leu291Pro, NP_001295399.1:p.Leu291Gln, NP_001295399.1:p.Leu291Pro, NP_001295400.1:p.Leu291Gln, NP_001295400.1:p.Leu291Pro, NP_001373943.1:p.Leu291Gln, NP_001373943.1:p.Leu291Pro, NP_001373942.1:p.Leu291Gln, NP_001373942.1:p.Leu291Pro, NP_001373941.1:p.Leu291Gln, NP_001373941.1:p.Leu291Pro

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