SNP Links for Protein (Select 767995706) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 319

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Select item 14901610101.

rs1490161010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37744575 (GRCh38)
17:36104566 (GRCh37)
Canonical SPDI:: NC_000017.11:37744574:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.37744575C>T, NG_013019.2:g.5532G>A, NM_000458.4:c.310G>A, NM_000458.3:c.310G>A, NM_000458.2:c.310G>A, NM_001165923.4:c.310G>A, NM_001165923.3:c.310G>A, NM_001165923.2:c.310G>A, NM_001165923.1:c.310G>A, NM_001304286.2:c.310G>A, NM_001304286.1:c.310G>A, NM_001411100.1:c.310G>A, NT_187614.1:g.1983631C>T, NC_000017.10:g.36104566C>T, XM_011525163.3:c.310G>A, XM_011525163.2:c.310G>A, XM_011525163.1:c.310G>A, XM_011525162.3:c.310G>A, XM_011525162.2:c.310G>A, XM_011525162.1:c.310G>A, XM_047436630.1:c.310G>A, XM_047436631.1:c.310G>A, XM_011525160.1:c.310G>A, NM_006481.1:c.310G>A, XM_011525161.1:c.310G>A, XM_011525164.1:c.310G>A, NP_000449.1:p.Ala104Thr, NP_001159395.1:p.Ala104Thr, NP_001291215.1:p.Ala104Thr, XP_011523465.1:p.Ala104Thr, XP_011523464.1:p.Ala104Thr, XP_047292586.1:p.Ala104Thr, XP_047292587.1:p.Ala104Thr, XP_011523462.1:p.Ala104Thr, XP_011523463.1:p.Ala104Thr, XP_011523466.1:p.Ala104Thr

Select item 14892079732.

rs1489207973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:37744608 (GRCh38)
17:36104599 (GRCh37)
Canonical SPDI:: NC_000017.11:37744607:T:G
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.37744608T>G, NG_013019.2:g.5499A>C, NM_000458.4:c.277A>C, NM_000458.3:c.277A>C, NM_000458.2:c.277A>C, NM_001165923.4:c.277A>C, NM_001165923.3:c.277A>C, NM_001165923.2:c.277A>C, NM_001165923.1:c.277A>C, NM_001304286.2:c.277A>C, NM_001304286.1:c.277A>C, NM_001411100.1:c.277A>C, NT_187614.1:g.1983664T>G, NC_000017.10:g.36104599T>G, XM_011525163.3:c.277A>C, XM_011525163.2:c.277A>C, XM_011525163.1:c.277A>C, XM_011525162.3:c.277A>C, XM_011525162.2:c.277A>C, XM_011525162.1:c.277A>C, XM_047436630.1:c.277A>C, XM_047436631.1:c.277A>C, XM_011525160.1:c.277A>C, NM_006481.1:c.277A>C, XM_011525161.1:c.277A>C, XM_011525164.1:c.277A>C, NP_000449.1:p.Lys93Gln, NP_001159395.1:p.Lys93Gln, NP_001291215.1:p.Lys93Gln, XP_011523465.1:p.Lys93Gln, XP_011523464.1:p.Lys93Gln, XP_047292586.1:p.Lys93Gln, XP_047292587.1:p.Lys93Gln, XP_011523462.1:p.Lys93Gln, XP_011523463.1:p.Lys93Gln, XP_011523466.1:p.Lys93Gln

Select item 14870536083.

rs1487053608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37739537 (GRCh38)
17:36099528 (GRCh37)
Canonical SPDI:: NC_000017.11:37739536:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.37739537G>A, NG_013019.2:g.10570C>T, NM_000458.4:c.447C>T, NM_000458.3:c.447C>T, NM_000458.2:c.447C>T, NM_001165923.4:c.447C>T, NM_001165923.3:c.447C>T, NM_001165923.2:c.447C>T, NM_001165923.1:c.447C>T, NM_001304286.2:c.447C>T, NM_001304286.1:c.447C>T, NM_001411100.1:c.447C>T, NT_187614.1:g.1978593G>A, NC_000017.10:g.36099528G>A, XM_011525163.3:c.447C>T, XM_011525163.2:c.447C>T, XM_011525163.1:c.447C>T, XM_011525162.3:c.447C>T, XM_011525162.2:c.447C>T, XM_011525162.1:c.447C>T, XM_047436630.1:c.447C>T, XM_047436631.1:c.447C>T, XM_011525160.1:c.447C>T, XM_011525164.1:c.447C>T, XM_011525161.1:c.447C>T, NM_006481.1:c.447C>T

Select item 14846736964.

rs1484673696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37731802 (GRCh38)
17:36091793 (GRCh37)
Canonical SPDI:: NC_000017.11:37731801:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37731802G>A, NG_013019.2:g.18305C>T, NM_000458.4:c.838C>T, NM_000458.3:c.838C>T, NM_000458.2:c.838C>T, NM_001165923.4:c.760C>T, NM_001165923.3:c.760C>T, NM_001165923.2:c.760C>T, NM_001165923.1:c.760C>T, NM_001304286.2:c.760C>T, NM_001304286.1:c.760C>T, NM_001411100.1:c.838C>T, NT_187614.1:g.1970858G>A, NC_000017.10:g.36091793G>A, XM_011525163.3:c.838C>T, XM_011525163.2:c.838C>T, XM_011525163.1:c.838C>T, XM_011525162.3:c.838C>T, XM_011525162.2:c.838C>T, XM_011525162.1:c.838C>T, XM_047436630.1:c.760C>T, XM_047436631.1:c.760C>T, XM_011525160.1:c.838C>T, XM_011525164.1:c.760C>T, XM_011525161.1:c.838C>T, NM_006481.1:c.838C>T, NP_000449.1:p.Pro280Ser, NP_001159395.1:p.Pro254Ser, NP_001291215.1:p.Pro254Ser, XP_011523465.1:p.Pro280Ser, XP_011523464.1:p.Pro280Ser, XP_047292586.1:p.Pro254Ser, XP_047292587.1:p.Pro254Ser, XP_011523462.1:p.Pro280Ser, XP_011523466.1:p.Pro254Ser, XP_011523463.1:p.Pro280Ser

Select item 14845637265.

rs1484563726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:37721299 (GRCh38)
17:36081294 (GRCh37)
Canonical SPDI:: NC_000017.11:37721298:T:C
Gene:: HNF1B (Varview), LOC105371754 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000017.11:g.37721299T>C, NG_013019.2:g.28808A>G, NT_187614.1:g.1960359T>C, NC_000017.10:g.36081294T>C, XM_011525163.3:c.1048A>G, XM_011525163.2:c.1048A>G, XM_011525163.1:c.1048A>G, XP_011523465.1:p.Thr350Ala

Select item 14809462556.

rs1480946255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37744794 (GRCh38)
17:36104785 (GRCh37)
Canonical SPDI:: NC_000017.11:37744793:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37744794C>T, NG_013019.2:g.5313G>A, NM_000458.4:c.91G>A, NM_000458.3:c.91G>A, NM_000458.2:c.91G>A, NM_001165923.4:c.91G>A, NM_001165923.3:c.91G>A, NM_001165923.2:c.91G>A, NM_001165923.1:c.91G>A, NM_001304286.2:c.91G>A, NM_001304286.1:c.91G>A, NM_001411100.1:c.91G>A, NT_187614.1:g.1983850C>T, NC_000017.10:g.36104785C>T, XM_011525163.3:c.91G>A, XM_011525163.2:c.91G>A, XM_011525163.1:c.91G>A, XM_011525162.3:c.91G>A, XM_011525162.2:c.91G>A, XM_011525162.1:c.91G>A, XM_047436630.1:c.91G>A, XM_047436631.1:c.91G>A, XM_011525160.1:c.91G>A, NM_006481.1:c.91G>A, XM_011525161.1:c.91G>A, XM_011525164.1:c.91G>A, NP_000449.1:p.Glu31Lys, NP_001159395.1:p.Glu31Lys, NP_001291215.1:p.Glu31Lys, XP_011523465.1:p.Glu31Lys, XP_011523464.1:p.Glu31Lys, XP_047292586.1:p.Glu31Lys, XP_047292587.1:p.Glu31Lys, XP_011523462.1:p.Glu31Lys, XP_011523463.1:p.Glu31Lys, XP_011523466.1:p.Glu31Lys

Select item 14808093377.

rs1480809337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:37744656 (GRCh38)
17:36104647 (GRCh37)
Canonical SPDI:: NC_000017.11:37744655:C:G
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37744656C>G, NG_013019.2:g.5451G>C, NM_000458.4:c.229G>C, NM_000458.3:c.229G>C, NM_000458.2:c.229G>C, NM_001165923.4:c.229G>C, NM_001165923.3:c.229G>C, NM_001165923.2:c.229G>C, NM_001165923.1:c.229G>C, NM_001304286.2:c.229G>C, NM_001304286.1:c.229G>C, NM_001411100.1:c.229G>C, NT_187614.1:g.1983712C>G, NC_000017.10:g.36104647C>G, XM_011525163.3:c.229G>C, XM_011525163.2:c.229G>C, XM_011525163.1:c.229G>C, XM_011525162.3:c.229G>C, XM_011525162.2:c.229G>C, XM_011525162.1:c.229G>C, XM_047436630.1:c.229G>C, XM_047436631.1:c.229G>C, XM_011525160.1:c.229G>C, XM_011525164.1:c.229G>C, XM_011525161.1:c.229G>C, NM_006481.1:c.229G>C, NP_000449.1:p.Asp77His, NP_001159395.1:p.Asp77His, NP_001291215.1:p.Asp77His, XP_011523465.1:p.Asp77His, XP_011523464.1:p.Asp77His, XP_047292586.1:p.Asp77His, XP_047292587.1:p.Asp77His, XP_011523462.1:p.Asp77His, XP_011523466.1:p.Asp77His, XP_011523463.1:p.Asp77His

Select item 14757774398.

rs1475777439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37731785 (GRCh38)
17:36091776 (GRCh37)
Canonical SPDI:: NC_000017.11:37731784:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37731785G>A, NG_013019.2:g.18322C>T, NM_000458.4:c.855C>T, NM_000458.3:c.855C>T, NM_000458.2:c.855C>T, NM_001165923.4:c.777C>T, NM_001165923.3:c.777C>T, NM_001165923.2:c.777C>T, NM_001165923.1:c.777C>T, NM_001304286.2:c.777C>T, NM_001304286.1:c.777C>T, NM_001411100.1:c.855C>T, NT_187614.1:g.1970841G>A, NC_000017.10:g.36091776G>A, XM_011525163.3:c.855C>T, XM_011525163.2:c.855C>T, XM_011525163.1:c.855C>T, XM_011525162.3:c.855C>T, XM_011525162.2:c.855C>T, XM_011525162.1:c.855C>T, XM_047436630.1:c.777C>T, XM_047436631.1:c.777C>T, XM_011525160.1:c.855C>T, XM_011525164.1:c.777C>T, XM_011525161.1:c.855C>T, NM_006481.1:c.855C>T

Select item 14749810639.

rs1474981063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37731636 (GRCh38)
17:36091627 (GRCh37)
Canonical SPDI:: NC_000017.11:37731635:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37731636G>A, NG_013019.2:g.18471C>T, NM_000458.4:c.1004C>T, NM_000458.3:c.1004C>T, NM_000458.2:c.1004C>T, NM_001165923.4:c.926C>T, NM_001165923.3:c.926C>T, NM_001165923.2:c.926C>T, NM_001165923.1:c.926C>T, NM_001304286.2:c.926C>T, NM_001304286.1:c.926C>T, NM_001411100.1:c.1004C>T, NT_187614.1:g.1970692G>A, NC_000017.10:g.36091627G>A, XM_011525163.3:c.1004C>T, XM_011525163.2:c.1004C>T, XM_011525163.1:c.1004C>T, XM_011525162.3:c.1004C>T, XM_011525162.2:c.1004C>T, XM_011525162.1:c.1004C>T, XM_047436630.1:c.926C>T, XM_047436631.1:c.926C>T, XM_011525160.1:c.1004C>T, NM_006481.1:c.1004C>T, XM_011525161.1:c.1004C>T, XM_011525164.1:c.926C>T, NP_000449.1:p.Pro335Leu, NP_001159395.1:p.Pro309Leu, NP_001291215.1:p.Pro309Leu, XP_011523465.1:p.Pro335Leu, XP_011523464.1:p.Pro335Leu, XP_047292586.1:p.Pro309Leu, XP_047292587.1:p.Pro309Leu, XP_011523462.1:p.Pro335Leu, XP_011523463.1:p.Pro335Leu, XP_011523466.1:p.Pro309Leu

Select item 147491563410.

rs1474915634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:37744593 (GRCh38)
17:36104584 (GRCh37)
Canonical SPDI:: NC_000017.11:37744592:G:C
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37744593G>C, NG_013019.2:g.5514C>G, NM_000458.4:c.292C>G, NM_000458.3:c.292C>G, NM_000458.2:c.292C>G, NM_001165923.4:c.292C>G, NM_001165923.3:c.292C>G, NM_001165923.2:c.292C>G, NM_001165923.1:c.292C>G, NM_001304286.2:c.292C>G, NM_001304286.1:c.292C>G, NM_001411100.1:c.292C>G, NT_187614.1:g.1983649G>C, NC_000017.10:g.36104584G>C, XM_011525163.3:c.292C>G, XM_011525163.2:c.292C>G, XM_011525163.1:c.292C>G, XM_011525162.3:c.292C>G, XM_011525162.2:c.292C>G, XM_011525162.1:c.292C>G, XM_047436630.1:c.292C>G, XM_047436631.1:c.292C>G, XM_011525160.1:c.292C>G, XM_011525164.1:c.292C>G, XM_011525161.1:c.292C>G, NM_006481.1:c.292C>G, NP_000449.1:p.Leu98Val, NP_001159395.1:p.Leu98Val, NP_001291215.1:p.Leu98Val, XP_011523465.1:p.Leu98Val, XP_011523464.1:p.Leu98Val, XP_047292586.1:p.Leu98Val, XP_047292587.1:p.Leu98Val, XP_011523462.1:p.Leu98Val, XP_011523466.1:p.Leu98Val, XP_011523463.1:p.Leu98Val

Select item 147436042011.

rs1474360420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:37744783 (GRCh38)
17:36104774 (GRCh37)
Canonical SPDI:: NC_000017.11:37744782:C:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37744783C>A, NG_013019.2:g.5324G>T, NM_000458.4:c.102G>T, NM_000458.3:c.102G>T, NM_000458.2:c.102G>T, NM_001165923.4:c.102G>T, NM_001165923.3:c.102G>T, NM_001165923.2:c.102G>T, NM_001165923.1:c.102G>T, NM_001304286.2:c.102G>T, NM_001304286.1:c.102G>T, NM_001411100.1:c.102G>T, NT_187614.1:g.1983839C>A, NC_000017.10:g.36104774C>A, XM_011525163.3:c.102G>T, XM_011525163.2:c.102G>T, XM_011525163.1:c.102G>T, XM_011525162.3:c.102G>T, XM_011525162.2:c.102G>T, XM_011525162.1:c.102G>T, XM_047436630.1:c.102G>T, XM_047436631.1:c.102G>T, XM_011525160.1:c.102G>T, XM_011525164.1:c.102G>T, XM_011525161.1:c.102G>T, NM_006481.1:c.102G>T

Select item 147290796512.

rs1472907965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37739528 (GRCh38)
17:36099519 (GRCh37)
Canonical SPDI:: NC_000017.11:37739527:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37739528C>T, NG_013019.2:g.10579G>A, NM_000458.4:c.456G>A, NM_000458.3:c.456G>A, NM_000458.2:c.456G>A, NM_001165923.4:c.456G>A, NM_001165923.3:c.456G>A, NM_001165923.2:c.456G>A, NM_001165923.1:c.456G>A, NM_001304286.2:c.456G>A, NM_001304286.1:c.456G>A, NM_001411100.1:c.456G>A, NT_187614.1:g.1978584C>T, NC_000017.10:g.36099519C>T, XM_011525163.3:c.456G>A, XM_011525163.2:c.456G>A, XM_011525163.1:c.456G>A, XM_011525162.3:c.456G>A, XM_011525162.2:c.456G>A, XM_011525162.1:c.456G>A, XM_047436630.1:c.456G>A, XM_047436631.1:c.456G>A, XM_011525160.1:c.456G>A, NM_006481.1:c.456G>A, XM_011525161.1:c.456G>A, XM_011525164.1:c.456G>A

Select item 146445725713.

rs1464457257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37733695 (GRCh38)
17:36093688 (GRCh37)
Canonical SPDI:: NC_000017.11:37733694:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37733695G>A, NG_013019.2:g.16412C>T, NM_000458.4:c.671C>T, NM_000458.3:c.671C>T, NM_000458.2:c.671C>T, NM_001165923.4:c.593C>T, NM_001165923.3:c.593C>T, NM_001165923.2:c.593C>T, NM_001165923.1:c.593C>T, NM_001304286.2:c.593C>T, NM_001304286.1:c.593C>T, NM_001411100.1:c.671C>T, NT_187614.1:g.1972753G>A, NC_000017.10:g.36093688G>A, XM_011525163.3:c.671C>T, XM_011525163.2:c.671C>T, XM_011525163.1:c.671C>T, XM_011525162.3:c.671C>T, XM_011525162.2:c.671C>T, XM_011525162.1:c.671C>T, XM_047436630.1:c.593C>T, XM_047436631.1:c.593C>T, XM_011525160.1:c.671C>T, NM_006481.1:c.671C>T, XM_011525161.1:c.671C>T, XM_011525164.1:c.593C>T, NP_000449.1:p.Ser224Phe, NP_001159395.1:p.Ser198Phe, NP_001291215.1:p.Ser198Phe, XP_011523465.1:p.Ser224Phe, XP_011523464.1:p.Ser224Phe, XP_047292586.1:p.Ser198Phe, XP_047292587.1:p.Ser198Phe, XP_011523462.1:p.Ser224Phe, XP_011523463.1:p.Ser224Phe, XP_011523466.1:p.Ser198Phe

Select item 146400297114.

rs1464002971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37731704 (GRCh38)
17:36091695 (GRCh37)
Canonical SPDI:: NC_000017.11:37731703:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.37731704C>T, NG_013019.2:g.18403G>A, NM_000458.4:c.936G>A, NM_000458.3:c.936G>A, NM_000458.2:c.936G>A, NM_001165923.4:c.858G>A, NM_001165923.3:c.858G>A, NM_001165923.2:c.858G>A, NM_001165923.1:c.858G>A, NM_001304286.2:c.858G>A, NM_001304286.1:c.858G>A, NM_001411100.1:c.936G>A, NT_187614.1:g.1970760C>T, NC_000017.10:g.36091695C>T, XM_011525163.3:c.936G>A, XM_011525163.2:c.936G>A, XM_011525163.1:c.936G>A, XM_011525162.3:c.936G>A, XM_011525162.2:c.936G>A, XM_011525162.1:c.936G>A, XM_047436630.1:c.858G>A, XM_047436631.1:c.858G>A, XM_011525160.1:c.936G>A, NM_006481.1:c.936G>A, XM_011525161.1:c.936G>A, XM_011525164.1:c.858G>A

Select item 146113493915.

rs1461134939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:37731724 (GRCh38)
17:36091715 (GRCh37)
Canonical SPDI:: NC_000017.11:37731723:C:G,NC_000017.11:37731723:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: missense_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_000017.11:g.37731724C>G, NC_000017.11:g.37731724C>T, NG_013019.2:g.18383G>C, NG_013019.2:g.18383G>A, NM_000458.4:c.916G>C, NM_000458.4:c.916G>A, NM_000458.3:c.916G>C, NM_000458.3:c.916G>A, NM_000458.2:c.916G>C, NM_000458.2:c.916G>A, NM_001165923.4:c.838G>C, NM_001165923.4:c.838G>A, NM_001165923.3:c.838G>C, NM_001165923.3:c.838G>A, NM_001165923.2:c.838G>C, NM_001165923.2:c.838G>A, NM_001165923.1:c.838G>C, NM_001165923.1:c.838G>A, NM_001304286.2:c.838G>C, NM_001304286.2:c.838G>A, NM_001304286.1:c.838G>C, NM_001304286.1:c.838G>A, NM_001411100.1:c.916G>C, NM_001411100.1:c.916G>A, NT_187614.1:g.1970780C>G, NT_187614.1:g.1970780C>T, NC_000017.10:g.36091715C>G, NC_000017.10:g.36091715C>T, XM_011525163.3:c.916G>C, XM_011525163.3:c.916G>A, XM_011525163.2:c.916G>C, XM_011525163.2:c.916G>A, XM_011525163.1:c.916G>C, XM_011525163.1:c.916G>A, XM_011525162.3:c.916G>C, XM_011525162.3:c.916G>A, XM_011525162.2:c.916G>C, XM_011525162.2:c.916G>A, XM_011525162.1:c.916G>C, XM_011525162.1:c.916G>A, XM_047436630.1:c.838G>C, XM_047436630.1:c.838G>A, XM_047436631.1:c.838G>C, XM_047436631.1:c.838G>A, XM_011525160.1:c.916G>C, XM_011525160.1:c.916G>A, XM_011525164.1:c.838G>C, XM_011525164.1:c.838G>A, XM_011525161.1:c.916G>C, XM_011525161.1:c.916G>A, NM_006481.1:c.916G>C, NM_006481.1:c.916G>A, NP_000449.1:p.Glu306Gln, NP_000449.1:p.Glu306Lys, NP_001159395.1:p.Glu280Gln, NP_001159395.1:p.Glu280Lys, NP_001291215.1:p.Glu280Gln, NP_001291215.1:p.Glu280Lys, XP_011523465.1:p.Glu306Gln, XP_011523465.1:p.Glu306Lys, XP_011523464.1:p.Glu306Gln, XP_011523464.1:p.Glu306Lys, XP_047292586.1:p.Glu280Gln, XP_047292586.1:p.Glu280Lys, XP_047292587.1:p.Glu280Gln, XP_047292587.1:p.Glu280Lys, XP_011523462.1:p.Glu306Gln, XP_011523462.1:p.Glu306Lys, XP_011523466.1:p.Glu280Gln, XP_011523466.1:p.Glu280Lys, XP_011523463.1:p.Glu306Gln, XP_011523463.1:p.Glu306Lys

Select item 146000325516.

rs1460003255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:37744717 (GRCh38)
17:36104708 (GRCh37)
Canonical SPDI:: NC_000017.11:37744716:G:C
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37744717G>C, NG_013019.2:g.5390C>G, NM_000458.4:c.168C>G, NM_000458.3:c.168C>G, NM_000458.2:c.168C>G, NM_001165923.4:c.168C>G, NM_001165923.3:c.168C>G, NM_001165923.2:c.168C>G, NM_001165923.1:c.168C>G, NM_001304286.2:c.168C>G, NM_001304286.1:c.168C>G, NM_001411100.1:c.168C>G, NT_187614.1:g.1983773G>C, NC_000017.10:g.36104708G>C, XM_011525163.3:c.168C>G, XM_011525163.2:c.168C>G, XM_011525163.1:c.168C>G, XM_011525162.3:c.168C>G, XM_011525162.2:c.168C>G, XM_011525162.1:c.168C>G, XM_047436630.1:c.168C>G, XM_047436631.1:c.168C>G, XM_011525160.1:c.168C>G, XM_011525164.1:c.168C>G, XM_011525161.1:c.168C>G, NM_006481.1:c.168C>G

Select item 145757480717.

rs1457574807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:37731700 (GRCh38)
17:36091691 (GRCh37)
Canonical SPDI:: NC_000017.11:37731699:C:A
Gene:: HNF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37731700C>A, NG_013019.2:g.18407G>T, NM_000458.4:c.940G>T, NM_000458.3:c.940G>T, NM_000458.2:c.940G>T, NM_001165923.4:c.862G>T, NM_001165923.3:c.862G>T, NM_001165923.2:c.862G>T, NM_001165923.1:c.862G>T, NM_001304286.2:c.862G>T, NM_001304286.1:c.862G>T, NM_001411100.1:c.940G>T, NT_187614.1:g.1970756C>A, NC_000017.10:g.36091691C>A, XM_011525163.3:c.940G>T, XM_011525163.2:c.940G>T, XM_011525163.1:c.940G>T, XM_011525162.3:c.940G>T, XM_011525162.2:c.940G>T, XM_011525162.1:c.940G>T, XM_047436630.1:c.862G>T, XM_047436631.1:c.862G>T, XM_011525160.1:c.940G>T, NM_006481.1:c.940G>T, XM_011525161.1:c.940G>T, XM_011525164.1:c.862G>T, NP_000449.1:p.Ala314Ser, NP_001159395.1:p.Ala288Ser, NP_001291215.1:p.Ala288Ser, XP_011523465.1:p.Ala314Ser, XP_011523464.1:p.Ala314Ser, XP_047292586.1:p.Ala288Ser, XP_047292587.1:p.Ala288Ser, XP_011523462.1:p.Ala314Ser, XP_011523463.1:p.Ala314Ser, XP_011523466.1:p.Ala288Ser

Select item 145424569018.

rs1454245690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37744690 (GRCh38)
17:36104681 (GRCh37)
Canonical SPDI:: NC_000017.11:37744689:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37744690G>A, NG_013019.2:g.5417C>T, NM_000458.4:c.195C>T, NM_000458.3:c.195C>T, NM_000458.2:c.195C>T, NM_001165923.4:c.195C>T, NM_001165923.3:c.195C>T, NM_001165923.2:c.195C>T, NM_001165923.1:c.195C>T, NM_001304286.2:c.195C>T, NM_001304286.1:c.195C>T, NM_001411100.1:c.195C>T, NT_187614.1:g.1983746G>A, NC_000017.10:g.36104681G>A, XM_011525163.3:c.195C>T, XM_011525163.2:c.195C>T, XM_011525163.1:c.195C>T, XM_011525162.3:c.195C>T, XM_011525162.2:c.195C>T, XM_011525162.1:c.195C>T, XM_047436630.1:c.195C>T, XM_047436631.1:c.195C>T, XM_011525160.1:c.195C>T, NM_006481.1:c.195C>T, XM_011525161.1:c.195C>T, XM_011525164.1:c.195C>T

Select item 144507674119.

rs1445076741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:37744686 (GRCh38)
17:36104677 (GRCh37)
Canonical SPDI:: NC_000017.11:37744685:T:A
Gene:: HNF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37744686T>A, NG_013019.2:g.5421A>T, NM_000458.4:c.199A>T, NM_000458.3:c.199A>T, NM_000458.2:c.199A>T, NM_001165923.4:c.199A>T, NM_001165923.3:c.199A>T, NM_001165923.2:c.199A>T, NM_001165923.1:c.199A>T, NM_001304286.2:c.199A>T, NM_001304286.1:c.199A>T, NM_001411100.1:c.199A>T, NT_187614.1:g.1983742T>A, NC_000017.10:g.36104677T>A, XM_011525163.3:c.199A>T, XM_011525163.2:c.199A>T, XM_011525163.1:c.199A>T, XM_011525162.3:c.199A>T, XM_011525162.2:c.199A>T, XM_011525162.1:c.199A>T, XM_047436630.1:c.199A>T, XM_047436631.1:c.199A>T, XM_011525160.1:c.199A>T, XM_011525164.1:c.199A>T, XM_011525161.1:c.199A>T, NM_006481.1:c.199A>T, NP_000449.1:p.Asn67Tyr, NP_001159395.1:p.Asn67Tyr, NP_001291215.1:p.Asn67Tyr, XP_011523465.1:p.Asn67Tyr, XP_011523464.1:p.Asn67Tyr, XP_047292586.1:p.Asn67Tyr, XP_047292587.1:p.Asn67Tyr, XP_011523462.1:p.Asn67Tyr, XP_011523466.1:p.Asn67Tyr, XP_011523463.1:p.Asn67Tyr

Select item 144286940620.

rs1442869406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:37744672 (GRCh38)
17:36104663 (GRCh37)
Canonical SPDI:: NC_000017.11:37744671:C:A,NC_000017.11:37744671:C:G
Gene:: HNF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.37744672C>A, NC_000017.11:g.37744672C>G, NG_013019.2:g.5435G>T, NG_013019.2:g.5435G>C, NM_000458.4:c.213G>T, NM_000458.4:c.213G>C, NM_000458.3:c.213G>T, NM_000458.3:c.213G>C, NM_000458.2:c.213G>T, NM_000458.2:c.213G>C, NM_001165923.4:c.213G>T, NM_001165923.4:c.213G>C, NM_001165923.3:c.213G>T, NM_001165923.3:c.213G>C, NM_001165923.2:c.213G>T, NM_001165923.2:c.213G>C, NM_001165923.1:c.213G>T, NM_001165923.1:c.213G>C, NM_001304286.2:c.213G>T, NM_001304286.2:c.213G>C, NM_001304286.1:c.213G>T, NM_001304286.1:c.213G>C, NM_001411100.1:c.213G>T, NM_001411100.1:c.213G>C, NT_187614.1:g.1983728C>A, NT_187614.1:g.1983728C>G, NC_000017.10:g.36104663C>A, NC_000017.10:g.36104663C>G, XM_011525163.3:c.213G>T, XM_011525163.3:c.213G>C, XM_011525163.2:c.213G>T, XM_011525163.2:c.213G>C, XM_011525163.1:c.213G>T, XM_011525163.1:c.213G>C, XM_011525162.3:c.213G>T, XM_011525162.3:c.213G>C, XM_011525162.2:c.213G>T, XM_011525162.2:c.213G>C, XM_011525162.1:c.213G>T, XM_011525162.1:c.213G>C, XM_047436630.1:c.213G>T, XM_047436630.1:c.213G>C, XM_047436631.1:c.213G>T, XM_047436631.1:c.213G>C, XM_011525160.1:c.213G>T, XM_011525160.1:c.213G>C, NM_006481.1:c.213G>T, NM_006481.1:c.213G>C, XM_011525161.1:c.213G>T, XM_011525161.1:c.213G>C, XM_011525164.1:c.213G>T, XM_011525164.1:c.213G>C, NP_000449.1:p.Lys71Asn, NP_000449.1:p.Lys71Asn, NP_001159395.1:p.Lys71Asn, NP_001159395.1:p.Lys71Asn, NP_001291215.1:p.Lys71Asn, NP_001291215.1:p.Lys71Asn, XP_011523465.1:p.Lys71Asn, XP_011523465.1:p.Lys71Asn, XP_011523464.1:p.Lys71Asn, XP_011523464.1:p.Lys71Asn, XP_047292586.1:p.Lys71Asn, XP_047292586.1:p.Lys71Asn, XP_047292587.1:p.Lys71Asn, XP_047292587.1:p.Lys71Asn, XP_011523462.1:p.Lys71Asn, XP_011523462.1:p.Lys71Asn, XP_011523463.1:p.Lys71Asn, XP_011523463.1:p.Lys71Asn, XP_011523466.1:p.Lys71Asn, XP_011523466.1:p.Lys71Asn

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