SNP Links for Protein (Select 358679323) - SNP

Links from Protein

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Select item 14905807851.

rs1490580785 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 5:66053971 (GRCh38)
5:65349799 (GRCh37)
Canonical SPDI:: NC_000005.10:66053968:ATGAT:AT
Gene:: ERBIN (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.00046/8 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.66053971_66053973del, NC_000005.9:g.65349799_65349801del, NG_031822.2:g.132418_132420del, NM_018695.4:c.2653_2655del, NM_018695.3:c.2653_2655del, NM_001006600.3:c.2653_2655del, NM_001006600.2:c.2653_2655del, NM_001253699.2:c.2653_2655del, NM_001253699.1:c.2653_2655del, NM_001253697.2:c.2653_2655del, NM_001253697.1:c.2653_2655del, NM_001253701.2:c.2641_2643del, NM_001253701.1:c.2641_2643del, NM_001253698.2:c.2653_2655del, NM_001253698.1:c.2653_2655del, XM_005248554.4:c.2653_2655del, XM_005248554.3:c.2653_2655del, XM_005248554.2:c.2653_2655del, XM_005248554.1:c.2653_2655del, XM_047417386.1:c.2653_2655del, XM_047417376.1:c.2653_2655del, XM_047417377.1:c.2641_2643del, XM_047417378.1:c.2653_2655del, XM_047417379.1:c.2641_2643del, XM_047417380.1:c.2653_2655del, XM_047417381.1:c.2641_2643del, XM_047417382.1:c.2653_2655del, XM_047417383.1:c.2641_2643del, XM_047417384.1:c.2653_2655del, XM_047417385.1:c.2641_2643del, NP_061165.1:p.Asp885del, NP_001006600.1:p.Asp885del, NP_001240628.1:p.Asp885del, NP_001240626.1:p.Asp885del, NP_001240630.1:p.Asp881del, NP_001240627.1:p.Asp885del, XP_005248611.1:p.Asp885del, XP_047273342.1:p.Asp885del, XP_047273332.1:p.Asp885del, XP_047273333.1:p.Asp881del, XP_047273334.1:p.Asp885del, XP_047273335.1:p.Asp881del, XP_047273336.1:p.Asp885del, XP_047273337.1:p.Asp881del, XP_047273338.1:p.Asp885del, XP_047273339.1:p.Asp881del, XP_047273340.1:p.Asp885del, XP_047273341.1:p.Asp881del

Select item 14885996152.

rs1488599615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:66054317 (GRCh38)
5:65350145 (GRCh37)
Canonical SPDI:: NC_000005.10:66054316:T:G
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.66054317T>G, NC_000005.9:g.65350145T>G, NG_031822.2:g.132764T>G, NM_018695.4:c.2999T>G, NM_018695.3:c.2999T>G, NM_001006600.3:c.2999T>G, NM_001006600.2:c.2999T>G, NM_001253699.2:c.2999T>G, NM_001253699.1:c.2999T>G, NM_001253697.2:c.2999T>G, NM_001253697.1:c.2999T>G, NM_001253701.2:c.2987T>G, NM_001253701.1:c.2987T>G, NM_001253698.2:c.2999T>G, NM_001253698.1:c.2999T>G, XM_005248554.4:c.2999T>G, XM_005248554.3:c.2999T>G, XM_005248554.2:c.2999T>G, XM_005248554.1:c.2999T>G, XM_047417386.1:c.2999T>G, XM_047417376.1:c.2999T>G, XM_047417377.1:c.2987T>G, XM_047417378.1:c.2999T>G, XM_047417379.1:c.2987T>G, XM_047417380.1:c.2999T>G, XM_047417381.1:c.2987T>G, XM_047417382.1:c.2999T>G, XM_047417383.1:c.2987T>G, XM_047417384.1:c.2999T>G, XM_047417385.1:c.2987T>G, NP_061165.1:p.Ile1000Arg, NP_001006600.1:p.Ile1000Arg, NP_001240628.1:p.Ile1000Arg, NP_001240626.1:p.Ile1000Arg, NP_001240630.1:p.Ile996Arg, NP_001240627.1:p.Ile1000Arg, XP_005248611.1:p.Ile1000Arg, XP_047273342.1:p.Ile1000Arg, XP_047273332.1:p.Ile1000Arg, XP_047273333.1:p.Ile996Arg, XP_047273334.1:p.Ile1000Arg, XP_047273335.1:p.Ile996Arg, XP_047273336.1:p.Ile1000Arg, XP_047273337.1:p.Ile996Arg, XP_047273338.1:p.Ile1000Arg, XP_047273339.1:p.Ile996Arg, XP_047273340.1:p.Ile1000Arg, XP_047273341.1:p.Ile996Arg

Select item 14884202363.

rs1488420236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:66046492 (GRCh38)
5:65342320 (GRCh37)
Canonical SPDI:: NC_000005.10:66046491:C:G
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.66046492C>G, NC_000005.9:g.65342320C>G, NG_031822.2:g.124939C>G, NM_018695.4:c.1742C>G, NM_018695.3:c.1742C>G, NM_001006600.3:c.1742C>G, NM_001006600.2:c.1742C>G, NM_001253699.2:c.1742C>G, NM_001253699.1:c.1742C>G, NM_001253697.2:c.1742C>G, NM_001253697.1:c.1742C>G, NM_001253701.2:c.1730C>G, NM_001253701.1:c.1730C>G, NM_001253698.2:c.1742C>G, NM_001253698.1:c.1742C>G, XM_005248554.4:c.1742C>G, XM_005248554.3:c.1742C>G, XM_005248554.2:c.1742C>G, XM_005248554.1:c.1742C>G, XM_047417386.1:c.1742C>G, XM_047417376.1:c.1742C>G, XM_047417377.1:c.1730C>G, XM_047417378.1:c.1742C>G, XM_047417379.1:c.1730C>G, XM_047417380.1:c.1742C>G, XM_047417381.1:c.1730C>G, XM_047417382.1:c.1742C>G, XM_047417383.1:c.1730C>G, XM_047417384.1:c.1742C>G, XM_047417385.1:c.1730C>G, NP_061165.1:p.Ala581Gly, NP_001006600.1:p.Ala581Gly, NP_001240628.1:p.Ala581Gly, NP_001240626.1:p.Ala581Gly, NP_001240630.1:p.Ala577Gly, NP_001240627.1:p.Ala581Gly, XP_005248611.1:p.Ala581Gly, XP_047273342.1:p.Ala581Gly, XP_047273332.1:p.Ala581Gly, XP_047273333.1:p.Ala577Gly, XP_047273334.1:p.Ala581Gly, XP_047273335.1:p.Ala577Gly, XP_047273336.1:p.Ala581Gly, XP_047273337.1:p.Ala577Gly, XP_047273338.1:p.Ala581Gly, XP_047273339.1:p.Ala577Gly, XP_047273340.1:p.Ala581Gly, XP_047273341.1:p.Ala577Gly

Select item 14879016424.

rs1487901642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:66054226 (GRCh38)
5:65350054 (GRCh37)
Canonical SPDI:: NC_000005.10:66054225:C:G
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.66054226C>G, NC_000005.9:g.65350054C>G, NG_031822.2:g.132673C>G, NM_018695.4:c.2908C>G, NM_018695.3:c.2908C>G, NM_001006600.3:c.2908C>G, NM_001006600.2:c.2908C>G, NM_001253699.2:c.2908C>G, NM_001253699.1:c.2908C>G, NM_001253697.2:c.2908C>G, NM_001253697.1:c.2908C>G, NM_001253701.2:c.2896C>G, NM_001253701.1:c.2896C>G, NM_001253698.2:c.2908C>G, NM_001253698.1:c.2908C>G, XM_005248554.4:c.2908C>G, XM_005248554.3:c.2908C>G, XM_005248554.2:c.2908C>G, XM_005248554.1:c.2908C>G, XM_047417386.1:c.2908C>G, XM_047417376.1:c.2908C>G, XM_047417377.1:c.2896C>G, XM_047417378.1:c.2908C>G, XM_047417379.1:c.2896C>G, XM_047417380.1:c.2908C>G, XM_047417381.1:c.2896C>G, XM_047417382.1:c.2908C>G, XM_047417383.1:c.2896C>G, XM_047417384.1:c.2908C>G, XM_047417385.1:c.2896C>G, NP_061165.1:p.Gln970Glu, NP_001006600.1:p.Gln970Glu, NP_001240628.1:p.Gln970Glu, NP_001240626.1:p.Gln970Glu, NP_001240630.1:p.Gln966Glu, NP_001240627.1:p.Gln970Glu, XP_005248611.1:p.Gln970Glu, XP_047273342.1:p.Gln970Glu, XP_047273332.1:p.Gln970Glu, XP_047273333.1:p.Gln966Glu, XP_047273334.1:p.Gln970Glu, XP_047273335.1:p.Gln966Glu, XP_047273336.1:p.Gln970Glu, XP_047273337.1:p.Gln966Glu, XP_047273338.1:p.Gln970Glu, XP_047273339.1:p.Gln966Glu, XP_047273340.1:p.Gln970Glu, XP_047273341.1:p.Gln966Glu

Select item 14869835825.

rs1486983582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:66024426 (GRCh38)
5:65320254 (GRCh37)
Canonical SPDI:: NC_000005.10:66024425:C:T
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.66024426C>T, NC_000005.9:g.65320254C>T, NG_031822.2:g.102873C>T, NM_018695.4:c.793C>T, NM_018695.3:c.793C>T, NM_001006600.3:c.793C>T, NM_001006600.2:c.793C>T, NM_001253699.2:c.793C>T, NM_001253699.1:c.793C>T, NM_001253697.2:c.793C>T, NM_001253697.1:c.793C>T, NM_001253701.2:c.793C>T, NM_001253701.1:c.793C>T, NM_001253698.2:c.793C>T, NM_001253698.1:c.793C>T, XM_005248554.4:c.793C>T, XM_005248554.3:c.793C>T, XM_005248554.2:c.793C>T, XM_005248554.1:c.793C>T, XM_047417386.1:c.793C>T, XM_047417376.1:c.793C>T, XM_047417377.1:c.793C>T, XM_047417378.1:c.793C>T, XM_047417379.1:c.793C>T, XM_047417380.1:c.793C>T, XM_047417381.1:c.793C>T, XM_047417382.1:c.793C>T, XM_047417383.1:c.793C>T, XM_047417384.1:c.793C>T, XM_047417385.1:c.793C>T, NP_061165.1:p.Leu265Phe, NP_001006600.1:p.Leu265Phe, NP_001240628.1:p.Leu265Phe, NP_001240626.1:p.Leu265Phe, NP_001240630.1:p.Leu265Phe, NP_001240627.1:p.Leu265Phe, XP_005248611.1:p.Leu265Phe, XP_047273342.1:p.Leu265Phe, XP_047273332.1:p.Leu265Phe, XP_047273333.1:p.Leu265Phe, XP_047273334.1:p.Leu265Phe, XP_047273335.1:p.Leu265Phe, XP_047273336.1:p.Leu265Phe, XP_047273337.1:p.Leu265Phe, XP_047273338.1:p.Leu265Phe, XP_047273339.1:p.Leu265Phe, XP_047273340.1:p.Leu265Phe, XP_047273341.1:p.Leu265Phe

Select item 14854698706.

rs1485469870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:66078476 (GRCh38)
5:65374304 (GRCh37)
Canonical SPDI:: NC_000005.10:66078475:A:G
Gene:: ERBIN (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.66078476A>G, NC_000005.9:g.65374304A>G, NG_031822.2:g.156923A>G, NM_018695.4:c.4062A>G, NM_018695.3:c.4062A>G, NM_001006600.3:c.3855A>G, NM_001006600.2:c.3855A>G, NM_001253699.2:c.4206A>G, NM_001253699.1:c.4206A>G, NM_001253697.2:c.4185A>G, NM_001253697.1:c.4185A>G, NM_001253701.2:c.4050A>G, NM_001253701.1:c.4050A>G, NM_001253698.2:c.3987A>G, NM_001253698.1:c.3987A>G, XM_005248554.4:c.4329A>G, XM_005248554.3:c.4329A>G, XM_005248554.2:c.4329A>G, XM_005248554.1:c.4329A>G, XM_047417376.1:c.4329A>G, XM_047417377.1:c.4317A>G, XM_047417378.1:c.4206A>G, XM_047417379.1:c.4194A>G, XM_047417380.1:c.4185A>G, XM_047417381.1:c.4173A>G, XM_047417382.1:c.4062A>G, XM_047417383.1:c.4050A>G, XM_047417384.1:c.3855A>G, XM_047417385.1:c.3843A>G

Select item 14845414927.

rs1484541492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:66076381 (GRCh38)
5:65372209 (GRCh37)
Canonical SPDI:: NC_000005.10:66076380:A:G
Gene:: ERBIN (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.66076381A>G, NC_000005.9:g.65372209A>G, NG_031822.2:g.154828A>G, NM_018695.4:c.3906A>G, NM_018695.3:c.3906A>G, NM_001006600.3:c.3699A>G, NM_001006600.2:c.3699A>G, NM_001253699.2:c.4050A>G, NM_001253699.1:c.4050A>G, NM_001253697.2:c.4029A>G, NM_001253697.1:c.4029A>G, NM_001253701.2:c.3894A>G, NM_001253701.1:c.3894A>G, NM_001253698.2:c.3906A>G, NM_001253698.1:c.3906A>G, XM_005248554.4:c.4173A>G, XM_005248554.3:c.4173A>G, XM_005248554.2:c.4173A>G, XM_005248554.1:c.4173A>G, XM_047417376.1:c.4173A>G, XM_047417377.1:c.4161A>G, XM_047417378.1:c.4050A>G, XM_047417379.1:c.4038A>G, XM_047417380.1:c.4029A>G, XM_047417381.1:c.4017A>G, XM_047417382.1:c.3906A>G, XM_047417383.1:c.3894A>G, XM_047417384.1:c.3699A>G, XM_047417385.1:c.3687A>G

Select item 14841159638.

rs1484115963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:66053881 (GRCh38)
5:65349709 (GRCh37)
Canonical SPDI:: NC_000005.10:66053880:G:C
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.66053881G>C, NC_000005.9:g.65349709G>C, NG_031822.2:g.132328G>C, NM_018695.4:c.2563G>C, NM_018695.3:c.2563G>C, NM_001006600.3:c.2563G>C, NM_001006600.2:c.2563G>C, NM_001253699.2:c.2563G>C, NM_001253699.1:c.2563G>C, NM_001253697.2:c.2563G>C, NM_001253697.1:c.2563G>C, NM_001253701.2:c.2551G>C, NM_001253701.1:c.2551G>C, NM_001253698.2:c.2563G>C, NM_001253698.1:c.2563G>C, XM_005248554.4:c.2563G>C, XM_005248554.3:c.2563G>C, XM_005248554.2:c.2563G>C, XM_005248554.1:c.2563G>C, XM_047417386.1:c.2563G>C, XM_047417376.1:c.2563G>C, XM_047417377.1:c.2551G>C, XM_047417378.1:c.2563G>C, XM_047417379.1:c.2551G>C, XM_047417380.1:c.2563G>C, XM_047417381.1:c.2551G>C, XM_047417382.1:c.2563G>C, XM_047417383.1:c.2551G>C, XM_047417384.1:c.2563G>C, XM_047417385.1:c.2551G>C, NP_061165.1:p.Asp855His, NP_001006600.1:p.Asp855His, NP_001240628.1:p.Asp855His, NP_001240626.1:p.Asp855His, NP_001240630.1:p.Asp851His, NP_001240627.1:p.Asp855His, XP_005248611.1:p.Asp855His, XP_047273342.1:p.Asp855His, XP_047273332.1:p.Asp855His, XP_047273333.1:p.Asp851His, XP_047273334.1:p.Asp855His, XP_047273335.1:p.Asp851His, XP_047273336.1:p.Asp855His, XP_047273337.1:p.Asp851His, XP_047273338.1:p.Asp855His, XP_047273339.1:p.Asp851His, XP_047273340.1:p.Asp855His, XP_047273341.1:p.Asp851His

Select item 14832320559.

rs1483232055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:66054038 (GRCh38)
5:65349866 (GRCh37)
Canonical SPDI:: NC_000005.10:66054037:G:A
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.66054038G>A, NC_000005.9:g.65349866G>A, NG_031822.2:g.132485G>A, NM_018695.4:c.2720G>A, NM_018695.3:c.2720G>A, NM_001006600.3:c.2720G>A, NM_001006600.2:c.2720G>A, NM_001253699.2:c.2720G>A, NM_001253699.1:c.2720G>A, NM_001253697.2:c.2720G>A, NM_001253697.1:c.2720G>A, NM_001253701.2:c.2708G>A, NM_001253701.1:c.2708G>A, NM_001253698.2:c.2720G>A, NM_001253698.1:c.2720G>A, XM_005248554.4:c.2720G>A, XM_005248554.3:c.2720G>A, XM_005248554.2:c.2720G>A, XM_005248554.1:c.2720G>A, XM_047417386.1:c.2720G>A, XM_047417376.1:c.2720G>A, XM_047417377.1:c.2708G>A, XM_047417378.1:c.2720G>A, XM_047417379.1:c.2708G>A, XM_047417380.1:c.2720G>A, XM_047417381.1:c.2708G>A, XM_047417382.1:c.2720G>A, XM_047417383.1:c.2708G>A, XM_047417384.1:c.2720G>A, XM_047417385.1:c.2708G>A, NP_061165.1:p.Gly907Glu, NP_001006600.1:p.Gly907Glu, NP_001240628.1:p.Gly907Glu, NP_001240626.1:p.Gly907Glu, NP_001240630.1:p.Gly903Glu, NP_001240627.1:p.Gly907Glu, XP_005248611.1:p.Gly907Glu, XP_047273342.1:p.Gly907Glu, XP_047273332.1:p.Gly907Glu, XP_047273333.1:p.Gly903Glu, XP_047273334.1:p.Gly907Glu, XP_047273335.1:p.Gly903Glu, XP_047273336.1:p.Gly907Glu, XP_047273337.1:p.Gly903Glu, XP_047273338.1:p.Gly907Glu, XP_047273339.1:p.Gly903Glu, XP_047273340.1:p.Gly907Glu, XP_047273341.1:p.Gly903Glu

Select item 148199802610.

rs1481998026 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:66012074 (GRCh38)
5:65307902 (GRCh37)
Canonical SPDI:: NC_000005.10:66012073:AAAAAA:AAAAA
Gene:: ERBIN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.66012079del, NC_000005.9:g.65307907del, NG_031822.2:g.90526del, NM_018695.4:c.338del, NM_018695.3:c.338del, NM_001006600.3:c.338del, NM_001006600.2:c.338del, NM_001253699.2:c.338del, NM_001253699.1:c.338del, NM_001253697.2:c.338del, NM_001253697.1:c.338del, NM_001253701.2:c.338del, NM_001253701.1:c.338del, NM_001253698.2:c.338del, NM_001253698.1:c.338del, XM_005248554.4:c.338del, XM_005248554.3:c.338del, XM_005248554.2:c.338del, XM_005248554.1:c.338del, XM_047417386.1:c.338del, XM_047417376.1:c.338del, XM_047417377.1:c.338del, XM_047417378.1:c.338del, XM_047417379.1:c.338del, XM_047417380.1:c.338del, XM_047417381.1:c.338del, XM_047417382.1:c.338del, XM_047417383.1:c.338del, XM_047417384.1:c.338del, XM_047417385.1:c.338del, NP_061165.1:p.Asn113fs, NP_001006600.1:p.Asn113fs, NP_001240628.1:p.Asn113fs, NP_001240626.1:p.Asn113fs, NP_001240630.1:p.Asn113fs, NP_001240627.1:p.Asn113fs, XP_005248611.1:p.Asn113fs, XP_047273342.1:p.Asn113fs, XP_047273332.1:p.Asn113fs, XP_047273333.1:p.Asn113fs, XP_047273334.1:p.Asn113fs, XP_047273335.1:p.Asn113fs, XP_047273336.1:p.Asn113fs, XP_047273337.1:p.Asn113fs, XP_047273338.1:p.Asn113fs, XP_047273339.1:p.Asn113fs, XP_047273340.1:p.Asn113fs, XP_047273341.1:p.Asn113fs

Select item 148186223511.

rs1481862235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:66048688 (GRCh38)
5:65344516 (GRCh37)
Canonical SPDI:: NC_000005.10:66048687:G:A
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.66048688G>A, NC_000005.9:g.65344516G>A, NG_031822.2:g.127135G>A, NM_018695.4:c.1810G>A, NM_018695.3:c.1810G>A, NM_001006600.3:c.1810G>A, NM_001006600.2:c.1810G>A, NM_001253699.2:c.1810G>A, NM_001253699.1:c.1810G>A, NM_001253697.2:c.1810G>A, NM_001253697.1:c.1810G>A, NM_001253701.2:c.1798G>A, NM_001253701.1:c.1798G>A, NM_001253698.2:c.1810G>A, NM_001253698.1:c.1810G>A, XM_005248554.4:c.1810G>A, XM_005248554.3:c.1810G>A, XM_005248554.2:c.1810G>A, XM_005248554.1:c.1810G>A, XM_047417386.1:c.1810G>A, XM_047417376.1:c.1810G>A, XM_047417377.1:c.1798G>A, XM_047417378.1:c.1810G>A, XM_047417379.1:c.1798G>A, XM_047417380.1:c.1810G>A, XM_047417381.1:c.1798G>A, XM_047417382.1:c.1810G>A, XM_047417383.1:c.1798G>A, XM_047417384.1:c.1810G>A, XM_047417385.1:c.1798G>A, NP_061165.1:p.Asp604Asn, NP_001006600.1:p.Asp604Asn, NP_001240628.1:p.Asp604Asn, NP_001240626.1:p.Asp604Asn, NP_001240630.1:p.Asp600Asn, NP_001240627.1:p.Asp604Asn, XP_005248611.1:p.Asp604Asn, XP_047273342.1:p.Asp604Asn, XP_047273332.1:p.Asp604Asn, XP_047273333.1:p.Asp600Asn, XP_047273334.1:p.Asp604Asn, XP_047273335.1:p.Asp600Asn, XP_047273336.1:p.Asp604Asn, XP_047273337.1:p.Asp600Asn, XP_047273338.1:p.Asp604Asn, XP_047273339.1:p.Asp600Asn, XP_047273340.1:p.Asp604Asn, XP_047273341.1:p.Asp600Asn

Select item 147988628112.

rs1479886281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:66054260 (GRCh38)
5:65350088 (GRCh37)
Canonical SPDI:: NC_000005.10:66054259:A:G
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.66054260A>G, NC_000005.9:g.65350088A>G, NG_031822.2:g.132707A>G, NM_018695.4:c.2942A>G, NM_018695.3:c.2942A>G, NM_001006600.3:c.2942A>G, NM_001006600.2:c.2942A>G, NM_001253699.2:c.2942A>G, NM_001253699.1:c.2942A>G, NM_001253697.2:c.2942A>G, NM_001253697.1:c.2942A>G, NM_001253701.2:c.2930A>G, NM_001253701.1:c.2930A>G, NM_001253698.2:c.2942A>G, NM_001253698.1:c.2942A>G, XM_005248554.4:c.2942A>G, XM_005248554.3:c.2942A>G, XM_005248554.2:c.2942A>G, XM_005248554.1:c.2942A>G, XM_047417386.1:c.2942A>G, XM_047417376.1:c.2942A>G, XM_047417377.1:c.2930A>G, XM_047417378.1:c.2942A>G, XM_047417379.1:c.2930A>G, XM_047417380.1:c.2942A>G, XM_047417381.1:c.2930A>G, XM_047417382.1:c.2942A>G, XM_047417383.1:c.2930A>G, XM_047417384.1:c.2942A>G, XM_047417385.1:c.2930A>G, NP_061165.1:p.Tyr981Cys, NP_001006600.1:p.Tyr981Cys, NP_001240628.1:p.Tyr981Cys, NP_001240626.1:p.Tyr981Cys, NP_001240630.1:p.Tyr977Cys, NP_001240627.1:p.Tyr981Cys, XP_005248611.1:p.Tyr981Cys, XP_047273342.1:p.Tyr981Cys, XP_047273332.1:p.Tyr981Cys, XP_047273333.1:p.Tyr977Cys, XP_047273334.1:p.Tyr981Cys, XP_047273335.1:p.Tyr977Cys, XP_047273336.1:p.Tyr981Cys, XP_047273337.1:p.Tyr977Cys, XP_047273338.1:p.Tyr981Cys, XP_047273339.1:p.Tyr977Cys, XP_047273340.1:p.Tyr981Cys, XP_047273341.1:p.Tyr977Cys

Select item 147950802413.

rs1479508024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:65994752 (GRCh38)
5:65290580 (GRCh37)
Canonical SPDI:: NC_000005.10:65994751:T:G
Gene:: ERBIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.65994752T>G, NC_000005.9:g.65290580T>G, NG_031822.2:g.73199T>G, NM_018695.4:c.195T>G, NM_018695.3:c.195T>G, NM_001006600.3:c.195T>G, NM_001006600.2:c.195T>G, NM_001253699.2:c.195T>G, NM_001253699.1:c.195T>G, NM_001253697.2:c.195T>G, NM_001253697.1:c.195T>G, NM_001253701.2:c.195T>G, NM_001253701.1:c.195T>G, NM_001253698.2:c.195T>G, NM_001253698.1:c.195T>G, XM_005248554.4:c.195T>G, XM_005248554.3:c.195T>G, XM_005248554.2:c.195T>G, XM_005248554.1:c.195T>G, XM_047417386.1:c.195T>G, XM_047417376.1:c.195T>G, XM_047417377.1:c.195T>G, XM_047417378.1:c.195T>G, XM_047417379.1:c.195T>G, XM_047417380.1:c.195T>G, XM_047417381.1:c.195T>G, XM_047417382.1:c.195T>G, XM_047417383.1:c.195T>G, XM_047417384.1:c.195T>G, XM_047417385.1:c.195T>G

Select item 147897578514.

rs1478975785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:66043177 (GRCh38)
5:65339005 (GRCh37)
Canonical SPDI:: NC_000005.10:66043176:T:C
Gene:: ERBIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.66043177T>C, NC_000005.9:g.65339005T>C, NG_031822.2:g.121624T>C, NM_018695.4:c.1407T>C, NM_018695.3:c.1407T>C, NM_001006600.3:c.1407T>C, NM_001006600.2:c.1407T>C, NM_001253699.2:c.1407T>C, NM_001253699.1:c.1407T>C, NM_001253697.2:c.1407T>C, NM_001253697.1:c.1407T>C, NM_001253701.2:c.1407T>C, NM_001253701.1:c.1407T>C, NM_001253698.2:c.1407T>C, NM_001253698.1:c.1407T>C, XM_005248554.4:c.1407T>C, XM_005248554.3:c.1407T>C, XM_005248554.2:c.1407T>C, XM_005248554.1:c.1407T>C, XM_047417386.1:c.1407T>C, XM_047417376.1:c.1407T>C, XM_047417377.1:c.1407T>C, XM_047417378.1:c.1407T>C, XM_047417379.1:c.1407T>C, XM_047417380.1:c.1407T>C, XM_047417381.1:c.1407T>C, XM_047417382.1:c.1407T>C, XM_047417383.1:c.1407T>C, XM_047417384.1:c.1407T>C, XM_047417385.1:c.1407T>C

Select item 147859321215.

rs1478593212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:66054667 (GRCh38)
5:65350495 (GRCh37)
Canonical SPDI:: NC_000005.10:66054666:C:A
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.66054667C>A, NC_000005.9:g.65350495C>A, NG_031822.2:g.133114C>A, NM_018695.4:c.3349C>A, NM_018695.3:c.3349C>A, NM_001006600.3:c.3349C>A, NM_001006600.2:c.3349C>A, NM_001253699.2:c.3349C>A, NM_001253699.1:c.3349C>A, NM_001253697.2:c.3349C>A, NM_001253697.1:c.3349C>A, NM_001253701.2:c.3337C>A, NM_001253701.1:c.3337C>A, NM_001253698.2:c.3349C>A, NM_001253698.1:c.3349C>A, XM_005248554.4:c.3349C>A, XM_005248554.3:c.3349C>A, XM_005248554.2:c.3349C>A, XM_005248554.1:c.3349C>A, XM_047417386.1:c.3349C>A, XM_047417376.1:c.3349C>A, XM_047417377.1:c.3337C>A, XM_047417378.1:c.3349C>A, XM_047417379.1:c.3337C>A, XM_047417380.1:c.3349C>A, XM_047417381.1:c.3337C>A, XM_047417382.1:c.3349C>A, XM_047417383.1:c.3337C>A, XM_047417384.1:c.3349C>A, XM_047417385.1:c.3337C>A, NP_061165.1:p.Pro1117Thr, NP_001006600.1:p.Pro1117Thr, NP_001240628.1:p.Pro1117Thr, NP_001240626.1:p.Pro1117Thr, NP_001240630.1:p.Pro1113Thr, NP_001240627.1:p.Pro1117Thr, XP_005248611.1:p.Pro1117Thr, XP_047273342.1:p.Pro1117Thr, XP_047273332.1:p.Pro1117Thr, XP_047273333.1:p.Pro1113Thr, XP_047273334.1:p.Pro1117Thr, XP_047273335.1:p.Pro1113Thr, XP_047273336.1:p.Pro1117Thr, XP_047273337.1:p.Pro1113Thr, XP_047273338.1:p.Pro1117Thr, XP_047273339.1:p.Pro1113Thr, XP_047273340.1:p.Pro1117Thr, XP_047273341.1:p.Pro1113Thr

Select item 147832071116.

rs1478320711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:66026323 (GRCh38)
5:65322151 (GRCh37)
Canonical SPDI:: NC_000005.10:66026322:A:T
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.66026323A>T, NC_000005.9:g.65322151A>T, NG_031822.2:g.104770A>T, NM_018695.4:c.1042A>T, NM_018695.3:c.1042A>T, NM_001006600.3:c.1042A>T, NM_001006600.2:c.1042A>T, NM_001253699.2:c.1042A>T, NM_001253699.1:c.1042A>T, NM_001253697.2:c.1042A>T, NM_001253697.1:c.1042A>T, NM_001253701.2:c.1042A>T, NM_001253701.1:c.1042A>T, NM_001253698.2:c.1042A>T, NM_001253698.1:c.1042A>T, XM_005248554.4:c.1042A>T, XM_005248554.3:c.1042A>T, XM_005248554.2:c.1042A>T, XM_005248554.1:c.1042A>T, XM_047417386.1:c.1042A>T, XM_047417376.1:c.1042A>T, XM_047417377.1:c.1042A>T, XM_047417378.1:c.1042A>T, XM_047417379.1:c.1042A>T, XM_047417380.1:c.1042A>T, XM_047417381.1:c.1042A>T, XM_047417382.1:c.1042A>T, XM_047417383.1:c.1042A>T, XM_047417384.1:c.1042A>T, XM_047417385.1:c.1042A>T, NP_061165.1:p.Thr348Ser, NP_001006600.1:p.Thr348Ser, NP_001240628.1:p.Thr348Ser, NP_001240626.1:p.Thr348Ser, NP_001240630.1:p.Thr348Ser, NP_001240627.1:p.Thr348Ser, XP_005248611.1:p.Thr348Ser, XP_047273342.1:p.Thr348Ser, XP_047273332.1:p.Thr348Ser, XP_047273333.1:p.Thr348Ser, XP_047273334.1:p.Thr348Ser, XP_047273335.1:p.Thr348Ser, XP_047273336.1:p.Thr348Ser, XP_047273337.1:p.Thr348Ser, XP_047273338.1:p.Thr348Ser, XP_047273339.1:p.Thr348Ser, XP_047273340.1:p.Thr348Ser, XP_047273341.1:p.Thr348Ser

Select item 147524667817.

rs1475246678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:66014669 (GRCh38)
5:65310497 (GRCh37)
Canonical SPDI:: NC_000005.10:66014668:A:G
Gene:: ERBIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.66014669A>G, NC_000005.9:g.65310497A>G, NG_031822.2:g.93116A>G, NM_018695.4:c.477A>G, NM_018695.3:c.477A>G, NM_001006600.3:c.477A>G, NM_001006600.2:c.477A>G, NM_001253699.2:c.477A>G, NM_001253699.1:c.477A>G, NM_001253697.2:c.477A>G, NM_001253697.1:c.477A>G, NM_001253701.2:c.477A>G, NM_001253701.1:c.477A>G, NM_001253698.2:c.477A>G, NM_001253698.1:c.477A>G, XM_005248554.4:c.477A>G, XM_005248554.3:c.477A>G, XM_005248554.2:c.477A>G, XM_005248554.1:c.477A>G, XM_047417386.1:c.477A>G, XM_047417376.1:c.477A>G, XM_047417377.1:c.477A>G, XM_047417378.1:c.477A>G, XM_047417379.1:c.477A>G, XM_047417380.1:c.477A>G, XM_047417381.1:c.477A>G, XM_047417382.1:c.477A>G, XM_047417383.1:c.477A>G, XM_047417384.1:c.477A>G, XM_047417385.1:c.477A>G

Select item 147484089118.

rs1474840891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:66023321 (GRCh38)
5:65319149 (GRCh37)
Canonical SPDI:: NC_000005.10:66023320:A:C
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.66023321A>C, NC_000005.9:g.65319149A>C, NG_031822.2:g.101768A>C, NM_018695.4:c.629A>C, NM_018695.3:c.629A>C, NM_001006600.3:c.629A>C, NM_001006600.2:c.629A>C, NM_001253699.2:c.629A>C, NM_001253699.1:c.629A>C, NM_001253697.2:c.629A>C, NM_001253697.1:c.629A>C, NM_001253701.2:c.629A>C, NM_001253701.1:c.629A>C, NM_001253698.2:c.629A>C, NM_001253698.1:c.629A>C, XM_005248554.4:c.629A>C, XM_005248554.3:c.629A>C, XM_005248554.2:c.629A>C, XM_005248554.1:c.629A>C, XM_047417386.1:c.629A>C, XM_047417376.1:c.629A>C, XM_047417377.1:c.629A>C, XM_047417378.1:c.629A>C, XM_047417379.1:c.629A>C, XM_047417380.1:c.629A>C, XM_047417381.1:c.629A>C, XM_047417382.1:c.629A>C, XM_047417383.1:c.629A>C, XM_047417384.1:c.629A>C, XM_047417385.1:c.629A>C, NP_061165.1:p.Lys210Thr, NP_001006600.1:p.Lys210Thr, NP_001240628.1:p.Lys210Thr, NP_001240626.1:p.Lys210Thr, NP_001240630.1:p.Lys210Thr, NP_001240627.1:p.Lys210Thr, XP_005248611.1:p.Lys210Thr, XP_047273342.1:p.Lys210Thr, XP_047273332.1:p.Lys210Thr, XP_047273333.1:p.Lys210Thr, XP_047273334.1:p.Lys210Thr, XP_047273335.1:p.Lys210Thr, XP_047273336.1:p.Lys210Thr, XP_047273337.1:p.Lys210Thr, XP_047273338.1:p.Lys210Thr, XP_047273339.1:p.Lys210Thr, XP_047273340.1:p.Lys210Thr, XP_047273341.1:p.Lys210Thr

Select item 147330745219.

rs1473307452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:66053603 (GRCh38)
5:65349431 (GRCh37)
Canonical SPDI:: NC_000005.10:66053602:A:G
Gene:: ERBIN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.66053603A>G, NC_000005.9:g.65349431A>G, NG_031822.2:g.132050A>G, NM_018695.4:c.2285A>G, NM_018695.3:c.2285A>G, NM_001006600.3:c.2285A>G, NM_001006600.2:c.2285A>G, NM_001253699.2:c.2285A>G, NM_001253699.1:c.2285A>G, NM_001253697.2:c.2285A>G, NM_001253697.1:c.2285A>G, NM_001253701.2:c.2273A>G, NM_001253701.1:c.2273A>G, NM_001253698.2:c.2285A>G, NM_001253698.1:c.2285A>G, XM_005248554.4:c.2285A>G, XM_005248554.3:c.2285A>G, XM_005248554.2:c.2285A>G, XM_005248554.1:c.2285A>G, XM_047417386.1:c.2285A>G, XM_047417376.1:c.2285A>G, XM_047417377.1:c.2273A>G, XM_047417378.1:c.2285A>G, XM_047417379.1:c.2273A>G, XM_047417380.1:c.2285A>G, XM_047417381.1:c.2273A>G, XM_047417382.1:c.2285A>G, XM_047417383.1:c.2273A>G, XM_047417384.1:c.2285A>G, XM_047417385.1:c.2273A>G, NP_061165.1:p.His762Arg, NP_001006600.1:p.His762Arg, NP_001240628.1:p.His762Arg, NP_001240626.1:p.His762Arg, NP_001240630.1:p.His758Arg, NP_001240627.1:p.His762Arg, XP_005248611.1:p.His762Arg, XP_047273342.1:p.His762Arg, XP_047273332.1:p.His762Arg, XP_047273333.1:p.His758Arg, XP_047273334.1:p.His762Arg, XP_047273335.1:p.His758Arg, XP_047273336.1:p.His762Arg, XP_047273337.1:p.His758Arg, XP_047273338.1:p.His762Arg, XP_047273339.1:p.His758Arg, XP_047273340.1:p.His762Arg, XP_047273341.1:p.His758Arg

Select item 147265182920.

rs1472651829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:66054600 (GRCh38)
5:65350428 (GRCh37)
Canonical SPDI:: NC_000005.10:66054599:A:G
Gene:: ERBIN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.66054600A>G, NC_000005.9:g.65350428A>G, NG_031822.2:g.133047A>G, NM_018695.4:c.3282A>G, NM_018695.3:c.3282A>G, NM_001006600.3:c.3282A>G, NM_001006600.2:c.3282A>G, NM_001253699.2:c.3282A>G, NM_001253699.1:c.3282A>G, NM_001253697.2:c.3282A>G, NM_001253697.1:c.3282A>G, NM_001253701.2:c.3270A>G, NM_001253701.1:c.3270A>G, NM_001253698.2:c.3282A>G, NM_001253698.1:c.3282A>G, XM_005248554.4:c.3282A>G, XM_005248554.3:c.3282A>G, XM_005248554.2:c.3282A>G, XM_005248554.1:c.3282A>G, XM_047417386.1:c.3282A>G, XM_047417376.1:c.3282A>G, XM_047417377.1:c.3270A>G, XM_047417378.1:c.3282A>G, XM_047417379.1:c.3270A>G, XM_047417380.1:c.3282A>G, XM_047417381.1:c.3270A>G, XM_047417382.1:c.3282A>G, XM_047417383.1:c.3270A>G, XM_047417384.1:c.3282A>G, XM_047417385.1:c.3270A>G

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