SNP Links for Protein (Select 615276331) - SNP

Links from Protein

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Select item 14894904661.

rs1489490466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43200226 (GRCh38)
17:41352243 (GRCh37)
Canonical SPDI:: NC_000017.11:43200225:G:A
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.43200226G>A, NC_000017.10:g.41352243G>A, NG_005905.2:g.17758C>T, NM_005899.5:c.2086G>A, NM_005899.4:c.2086G>A, NM_005899.3:c.2086G>A, NM_031862.4:c.2086G>A, NM_031862.3:c.2086G>A, NM_031862.2:c.2086G>A, XM_011524813.3:c.2086G>A, XM_011524813.2:c.2086G>A, XM_011524813.1:c.2086G>A, XM_017024643.3:c.1876G>A, XM_017024643.2:c.1876G>A, XM_017024643.1:c.1876G>A, XM_006721903.3:c.1876G>A, XM_006721903.2:c.1876G>A, XM_006721903.1:c.1876G>A, NM_031858.2:c.2086G>A, XM_024450749.2:c.2086G>A, XM_024450749.1:c.2086G>A, NM_001291572.2:c.2023G>A, NM_001291572.1:c.2023G>A, NM_001291571.2:c.2086G>A, NM_001291571.1:c.2086G>A, XM_047436061.1:c.2086G>A, NP_005890.2:p.Ala696Thr, NP_114068.1:p.Ala696Thr, XP_011523115.1:p.Ala696Thr, XP_016880132.1:p.Ala626Thr, XP_006721966.1:p.Ala626Thr, XP_024306517.1:p.Ala696Thr, NP_001278501.1:p.Ala675Thr, NP_001278500.1:p.Ala696Thr, XP_047292017.1:p.Ala696Thr

Select item 14882595602.

rs1488259560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:43195016 (GRCh38)
17:41347033 (GRCh37)
Canonical SPDI:: NC_000017.11:43195015:G:A,NC_000017.11:43195015:G:T
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43195016G>A, NC_000017.11:g.43195016G>T, NC_000017.10:g.41347033G>A, NC_000017.10:g.41347033G>T, NG_005905.2:g.22968C>T, NG_005905.2:g.22968C>A, NM_005899.5:c.1727G>A, NM_005899.5:c.1727G>T, NM_005899.4:c.1727G>A, NM_005899.4:c.1727G>T, NM_005899.3:c.1727G>A, NM_005899.3:c.1727G>T, NM_031862.4:c.1727G>A, NM_031862.4:c.1727G>T, NM_031862.3:c.1727G>A, NM_031862.3:c.1727G>T, NM_031862.2:c.1727G>A, NM_031862.2:c.1727G>T, XM_011524813.3:c.1727G>A, XM_011524813.3:c.1727G>T, XM_011524813.2:c.1727G>A, XM_011524813.2:c.1727G>T, XM_011524813.1:c.1727G>A, XM_011524813.1:c.1727G>T, XM_017024643.3:c.1517G>A, XM_017024643.3:c.1517G>T, XM_017024643.2:c.1517G>A, XM_017024643.2:c.1517G>T, XM_017024643.1:c.1517G>A, XM_017024643.1:c.1517G>T, XM_006721903.3:c.1517G>A, XM_006721903.3:c.1517G>T, XM_006721903.2:c.1517G>A, XM_006721903.2:c.1517G>T, XM_006721903.1:c.1517G>A, XM_006721903.1:c.1517G>T, NM_031858.2:c.1727G>A, NM_031858.2:c.1727G>T, XM_024450749.2:c.1727G>A, XM_024450749.2:c.1727G>T, XM_024450749.1:c.1727G>A, XM_024450749.1:c.1727G>T, NM_001291572.2:c.1664G>A, NM_001291572.2:c.1664G>T, NM_001291572.1:c.1664G>A, NM_001291572.1:c.1664G>T, NM_001291571.2:c.1727G>A, NM_001291571.2:c.1727G>T, NM_001291571.1:c.1727G>A, NM_001291571.1:c.1727G>T, XM_047436061.1:c.1727G>A, XM_047436061.1:c.1727G>T, NP_005890.2:p.Arg576Lys, NP_005890.2:p.Arg576Ile, NP_114068.1:p.Arg576Lys, NP_114068.1:p.Arg576Ile, XP_011523115.1:p.Arg576Lys, XP_011523115.1:p.Arg576Ile, XP_016880132.1:p.Arg506Lys, XP_016880132.1:p.Arg506Ile, XP_006721966.1:p.Arg506Lys, XP_006721966.1:p.Arg506Ile, XP_024306517.1:p.Arg576Lys, XP_024306517.1:p.Arg576Ile, NP_001278501.1:p.Arg555Lys, NP_001278501.1:p.Arg555Ile, NP_001278500.1:p.Arg576Lys, NP_001278500.1:p.Arg576Ile, XP_047292017.1:p.Arg576Lys, XP_047292017.1:p.Arg576Ile

Select item 14877591793.

rs1487759179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:43200362 (GRCh38)
17:41352379 (GRCh37)
Canonical SPDI:: NC_000017.11:43200361:A:C
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.43200362A>C, NC_000017.10:g.41352379A>C, NG_005905.2:g.17622T>G, NM_005899.5:c.2222A>C, NM_005899.4:c.2222A>C, NM_005899.3:c.2222A>C, NM_031862.4:c.2222A>C, NM_031862.3:c.2222A>C, NM_031862.2:c.2222A>C, XM_011524813.3:c.2222A>C, XM_011524813.2:c.2222A>C, XM_011524813.1:c.2222A>C, XM_017024643.3:c.2012A>C, XM_017024643.2:c.2012A>C, XM_017024643.1:c.2012A>C, XM_006721903.3:c.2012A>C, XM_006721903.2:c.2012A>C, XM_006721903.1:c.2012A>C, NM_031858.2:c.2222A>C, XM_024450749.2:c.2222A>C, XM_024450749.1:c.2222A>C, NM_001291572.2:c.2159A>C, NM_001291572.1:c.2159A>C, NM_001291571.2:c.2222A>C, NM_001291571.1:c.2222A>C, XM_047436061.1:c.2222A>C, NP_005890.2:p.Asp741Ala, NP_114068.1:p.Asp741Ala, XP_011523115.1:p.Asp741Ala, XP_016880132.1:p.Asp671Ala, XP_006721966.1:p.Asp671Ala, XP_024306517.1:p.Asp741Ala, NP_001278501.1:p.Asp720Ala, NP_001278500.1:p.Asp741Ala, XP_047292017.1:p.Asp741Ala

Select item 14870606734.

rs1487060673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43196533 (GRCh38)
17:41348550 (GRCh37)
Canonical SPDI:: NC_000017.11:43196532:G:A
Gene:: NBR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.43196533G>A, NC_000017.10:g.41348550G>A, NG_005905.2:g.21451C>T, NM_005899.5:c.1803G>A, NM_005899.4:c.1803G>A, NM_005899.3:c.1803G>A, NM_031862.4:c.1803G>A, NM_031862.3:c.1803G>A, NM_031862.2:c.1803G>A, XM_011524813.3:c.1803G>A, XM_011524813.2:c.1803G>A, XM_011524813.1:c.1803G>A, XM_017024643.3:c.1593G>A, XM_017024643.2:c.1593G>A, XM_017024643.1:c.1593G>A, XM_006721903.3:c.1593G>A, XM_006721903.2:c.1593G>A, XM_006721903.1:c.1593G>A, NM_031858.2:c.1803G>A, XM_024450749.2:c.1803G>A, XM_024450749.1:c.1803G>A, NM_001291572.2:c.1740G>A, NM_001291572.1:c.1740G>A, NM_001291571.2:c.1803G>A, NM_001291571.1:c.1803G>A, XM_047436061.1:c.1803G>A

Select item 14838759595.

rs1483875959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:43189732 (GRCh38)
17:41341749 (GRCh37)
Canonical SPDI:: NC_000017.11:43189731:A:G
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43189732A>G, NC_000017.10:g.41341749A>G, NG_005905.2:g.28252T>C, NM_005899.5:c.625A>G, NM_005899.4:c.625A>G, NM_005899.3:c.625A>G, NM_031862.4:c.625A>G, NM_031862.3:c.625A>G, NM_031862.2:c.625A>G, XM_011524813.3:c.625A>G, XM_011524813.2:c.625A>G, XM_011524813.1:c.625A>G, XM_017024643.3:c.625A>G, XM_017024643.2:c.625A>G, XM_017024643.1:c.625A>G, XM_006721903.3:c.625A>G, XM_006721903.2:c.625A>G, XM_006721903.1:c.625A>G, NM_031858.2:c.625A>G, XM_024450749.2:c.625A>G, XM_024450749.1:c.625A>G, NM_001291572.2:c.562A>G, NM_001291572.1:c.562A>G, NM_001291571.2:c.625A>G, NM_001291571.1:c.625A>G, XM_047436061.1:c.625A>G, NP_005890.2:p.Asn209Asp, NP_114068.1:p.Asn209Asp, XP_011523115.1:p.Asn209Asp, XP_016880132.1:p.Asn209Asp, XP_006721966.1:p.Asn209Asp, XP_024306517.1:p.Asn209Asp, NP_001278501.1:p.Asn188Asp, NP_001278500.1:p.Asn209Asp, XP_047292017.1:p.Asn209Asp

Select item 14833430136.

rs1483343013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:43200426 (GRCh38)
17:41352443 (GRCh37)
Canonical SPDI:: NC_000017.11:43200425:A:C
Gene:: NBR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43200426A>C, NC_000017.10:g.41352443A>C, NG_005905.2:g.17558T>G, NM_005899.5:c.2286A>C, NM_005899.4:c.2286A>C, NM_005899.3:c.2286A>C, NM_031862.4:c.2286A>C, NM_031862.3:c.2286A>C, NM_031862.2:c.2286A>C, XM_011524813.3:c.2286A>C, XM_011524813.2:c.2286A>C, XM_011524813.1:c.2286A>C, XM_017024643.3:c.2076A>C, XM_017024643.2:c.2076A>C, XM_017024643.1:c.2076A>C, XM_006721903.3:c.2076A>C, XM_006721903.2:c.2076A>C, XM_006721903.1:c.2076A>C, NM_031858.2:c.2286A>C, XM_024450749.2:c.2286A>C, XM_024450749.1:c.2286A>C, NM_001291572.2:c.2223A>C, NM_001291572.1:c.2223A>C, NM_001291571.2:c.2286A>C, NM_001291571.1:c.2286A>C, XM_047436061.1:c.2286A>C

Select item 14815018507.

rs1481501850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:43191515 (GRCh38)
17:41343532 (GRCh37)
Canonical SPDI:: NC_000017.11:43191514:A:G
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43191515A>G, NC_000017.10:g.41343532A>G, NG_005905.2:g.26469T>C, NM_005899.5:c.1007A>G, NM_005899.4:c.1007A>G, NM_005899.3:c.1007A>G, NM_031862.4:c.1007A>G, NM_031862.3:c.1007A>G, NM_031862.2:c.1007A>G, XM_011524813.3:c.1007A>G, XM_011524813.2:c.1007A>G, XM_011524813.1:c.1007A>G, NM_031858.2:c.1007A>G, XM_024450749.2:c.1007A>G, XM_024450749.1:c.1007A>G, NM_001291572.2:c.944A>G, NM_001291572.1:c.944A>G, NM_001291571.2:c.1007A>G, NM_001291571.1:c.1007A>G, XM_047436061.1:c.1007A>G, NP_005890.2:p.His336Arg, NP_114068.1:p.His336Arg, XP_011523115.1:p.His336Arg, XP_024306517.1:p.His336Arg, NP_001278501.1:p.His315Arg, NP_001278500.1:p.His336Arg, XP_047292017.1:p.His336Arg

Select item 14802533898.

rs1480253389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:43189702 (GRCh38)
17:41341719 (GRCh37)
Canonical SPDI:: NC_000017.11:43189701:A:G
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.43189702A>G, NC_000017.10:g.41341719A>G, NG_005905.2:g.28282T>C, NM_005899.5:c.595A>G, NM_005899.4:c.595A>G, NM_005899.3:c.595A>G, NM_031862.4:c.595A>G, NM_031862.3:c.595A>G, NM_031862.2:c.595A>G, XM_011524813.3:c.595A>G, XM_011524813.2:c.595A>G, XM_011524813.1:c.595A>G, XM_017024643.3:c.595A>G, XM_017024643.2:c.595A>G, XM_017024643.1:c.595A>G, XM_006721903.3:c.595A>G, XM_006721903.2:c.595A>G, XM_006721903.1:c.595A>G, NM_031858.2:c.595A>G, XM_024450749.2:c.595A>G, XM_024450749.1:c.595A>G, NM_001291572.2:c.532A>G, NM_001291572.1:c.532A>G, NM_001291571.2:c.595A>G, NM_001291571.1:c.595A>G, XM_047436061.1:c.595A>G, NP_005890.2:p.Thr199Ala, NP_114068.1:p.Thr199Ala, XP_011523115.1:p.Thr199Ala, XP_016880132.1:p.Thr199Ala, XP_006721966.1:p.Thr199Ala, XP_024306517.1:p.Thr199Ala, NP_001278501.1:p.Thr178Ala, NP_001278500.1:p.Thr199Ala, XP_047292017.1:p.Thr199Ala

Select item 14781748649.

rs1478174864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43197086 (GRCh38)
17:41349103 (GRCh37)
Canonical SPDI:: NC_000017.11:43197085:G:A
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43197086G>A, NC_000017.10:g.41349103G>A, NG_005905.2:g.20898C>T, NM_005899.5:c.2006G>A, NM_005899.4:c.2006G>A, NM_005899.3:c.2006G>A, NM_031862.4:c.2006G>A, NM_031862.3:c.2006G>A, NM_031862.2:c.2006G>A, XM_011524813.3:c.2006G>A, XM_011524813.2:c.2006G>A, XM_011524813.1:c.2006G>A, XM_017024643.3:c.1796G>A, XM_017024643.2:c.1796G>A, XM_017024643.1:c.1796G>A, XM_006721903.3:c.1796G>A, XM_006721903.2:c.1796G>A, XM_006721903.1:c.1796G>A, NM_031858.2:c.2006G>A, XM_024450749.2:c.2006G>A, XM_024450749.1:c.2006G>A, NM_001291572.2:c.1943G>A, NM_001291572.1:c.1943G>A, NM_001291571.2:c.2006G>A, NM_001291571.1:c.2006G>A, XM_047436061.1:c.2006G>A, NP_005890.2:p.Cys669Tyr, NP_114068.1:p.Cys669Tyr, XP_011523115.1:p.Cys669Tyr, XP_016880132.1:p.Cys599Tyr, XP_006721966.1:p.Cys599Tyr, XP_024306517.1:p.Cys669Tyr, NP_001278501.1:p.Cys648Tyr, NP_001278500.1:p.Cys669Tyr, XP_047292017.1:p.Cys669Tyr

Select item 147762716310.

rs1477627163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43196540 (GRCh38)
17:41348557 (GRCh37)
Canonical SPDI:: NC_000017.11:43196539:T:C
Gene:: NBR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43196540T>C, NC_000017.10:g.41348557T>C, NG_005905.2:g.21444A>G, NM_005899.5:c.1810T>C, NM_005899.4:c.1810T>C, NM_005899.3:c.1810T>C, NM_031862.4:c.1810T>C, NM_031862.3:c.1810T>C, NM_031862.2:c.1810T>C, XM_011524813.3:c.1810T>C, XM_011524813.2:c.1810T>C, XM_011524813.1:c.1810T>C, XM_017024643.3:c.1600T>C, XM_017024643.2:c.1600T>C, XM_017024643.1:c.1600T>C, XM_006721903.3:c.1600T>C, XM_006721903.2:c.1600T>C, XM_006721903.1:c.1600T>C, NM_031858.2:c.1810T>C, XM_024450749.2:c.1810T>C, XM_024450749.1:c.1810T>C, NM_001291572.2:c.1747T>C, NM_001291572.1:c.1747T>C, NM_001291571.2:c.1810T>C, NM_001291571.1:c.1810T>C, XM_047436061.1:c.1810T>C

Select item 147677346011.

rs1476773460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:43200525 (GRCh38)
17:41352542 (GRCh37)
Canonical SPDI:: NC_000017.11:43200524:A:T
Gene:: NBR1 (Varview)
Functional Consequence:: synonymous_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)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43200525A>T, NC_000017.10:g.41352542A>T, NG_005905.2:g.17459T>A, NM_005899.5:c.2385A>T, NM_005899.4:c.2385A>T, NM_005899.3:c.2385A>T, NM_031862.4:c.2385A>T, NM_031862.3:c.2385A>T, NM_031862.2:c.2385A>T, XM_011524813.3:c.2385A>T, XM_011524813.2:c.2385A>T, XM_011524813.1:c.2385A>T, XM_017024643.3:c.2175A>T, XM_017024643.2:c.2175A>T, XM_017024643.1:c.2175A>T, XM_006721903.3:c.2175A>T, XM_006721903.2:c.2175A>T, XM_006721903.1:c.2175A>T, NM_031858.2:c.2385A>T, XM_024450749.2:c.2385A>T, XM_024450749.1:c.2385A>T, NM_001291572.2:c.2322A>T, NM_001291572.1:c.2322A>T, NM_001291571.2:c.2385A>T, NM_001291571.1:c.2385A>T, XM_047436061.1:c.2385A>T

Select item 147620698912.

rs1476206989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:43193182 (GRCh38)
17:41345199 (GRCh37)
Canonical SPDI:: NC_000017.11:43193181:C:G
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43193182C>G, NC_000017.10:g.41345199C>G, NG_005905.2:g.24802G>C, NM_005899.5:c.1162C>G, NM_005899.4:c.1162C>G, NM_005899.3:c.1162C>G, NM_031862.4:c.1162C>G, NM_031862.3:c.1162C>G, NM_031862.2:c.1162C>G, XM_011524813.3:c.1162C>G, XM_011524813.2:c.1162C>G, XM_011524813.1:c.1162C>G, XM_017024643.3:c.952C>G, XM_017024643.2:c.952C>G, XM_017024643.1:c.952C>G, XM_006721903.3:c.952C>G, XM_006721903.2:c.952C>G, XM_006721903.1:c.952C>G, NM_031858.2:c.1162C>G, XM_024450749.2:c.1162C>G, XM_024450749.1:c.1162C>G, NM_001291572.2:c.1099C>G, NM_001291572.1:c.1099C>G, NM_001291571.2:c.1162C>G, NM_001291571.1:c.1162C>G, XM_047436061.1:c.1162C>G, NP_005890.2:p.Pro388Ala, NP_114068.1:p.Pro388Ala, XP_011523115.1:p.Pro388Ala, XP_016880132.1:p.Pro318Ala, XP_006721966.1:p.Pro318Ala, XP_024306517.1:p.Pro388Ala, NP_001278501.1:p.Pro367Ala, NP_001278500.1:p.Pro388Ala, XP_047292017.1:p.Pro388Ala

Select item 147597434313.

rs1475974343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:43175898 (GRCh38)
17:41327915 (GRCh37)
Canonical SPDI:: NC_000017.11:43175897:T:A,NC_000017.11:43175897:T:C
Gene:: NBR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43175898T>A, NC_000017.11:g.43175898T>C, NC_000017.10:g.41327915T>A, NC_000017.10:g.41327915T>C, NG_005905.2:g.42086A>T, NG_005905.2:g.42086A>G, NM_005899.5:c.99T>A, NM_005899.5:c.99T>C, NM_005899.4:c.99T>A, NM_005899.4:c.99T>C, NM_005899.3:c.99T>A, NM_005899.3:c.99T>C, NM_031862.4:c.99T>A, NM_031862.4:c.99T>C, NM_031862.3:c.99T>A, NM_031862.3:c.99T>C, NM_031862.2:c.99T>A, NM_031862.2:c.99T>C, XM_011524813.3:c.99T>A, XM_011524813.3:c.99T>C, XM_011524813.2:c.99T>A, XM_011524813.2:c.99T>C, XM_011524813.1:c.99T>A, XM_011524813.1:c.99T>C, XM_017024643.3:c.99T>A, XM_017024643.3:c.99T>C, XM_017024643.2:c.99T>A, XM_017024643.2:c.99T>C, XM_017024643.1:c.99T>A, XM_017024643.1:c.99T>C, XM_006721903.3:c.99T>A, XM_006721903.3:c.99T>C, XM_006721903.2:c.99T>A, XM_006721903.2:c.99T>C, XM_006721903.1:c.99T>A, XM_006721903.1:c.99T>C, NM_031858.2:c.99T>A, NM_031858.2:c.99T>C, XM_024450749.2:c.99T>A, XM_024450749.2:c.99T>C, XM_024450749.1:c.99T>A, XM_024450749.1:c.99T>C, NM_001291572.2:c.99T>A, NM_001291572.2:c.99T>C, NM_001291572.1:c.99T>A, NM_001291572.1:c.99T>C, NM_001291571.2:c.99T>A, NM_001291571.2:c.99T>C, NM_001291571.1:c.99T>A, NM_001291571.1:c.99T>C, XM_047436061.1:c.99T>A, XM_047436061.1:c.99T>C

Select item 147582328614.

rs1475823286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:43193628 (GRCh38)
17:41345645 (GRCh37)
Canonical SPDI:: NC_000017.11:43193627:G:A,NC_000017.11:43193627:G:T
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43193628G>A, NC_000017.11:g.43193628G>T, NC_000017.10:g.41345645G>A, NC_000017.10:g.41345645G>T, NG_005905.2:g.24356C>T, NG_005905.2:g.24356C>A, NM_005899.5:c.1514G>A, NM_005899.5:c.1514G>T, NM_005899.4:c.1514G>A, NM_005899.4:c.1514G>T, NM_005899.3:c.1514G>A, NM_005899.3:c.1514G>T, NM_031862.4:c.1514G>A, NM_031862.4:c.1514G>T, NM_031862.3:c.1514G>A, NM_031862.3:c.1514G>T, NM_031862.2:c.1514G>A, NM_031862.2:c.1514G>T, XM_011524813.3:c.1514G>A, XM_011524813.3:c.1514G>T, XM_011524813.2:c.1514G>A, XM_011524813.2:c.1514G>T, XM_011524813.1:c.1514G>A, XM_011524813.1:c.1514G>T, XM_017024643.3:c.1304G>A, XM_017024643.3:c.1304G>T, XM_017024643.2:c.1304G>A, XM_017024643.2:c.1304G>T, XM_017024643.1:c.1304G>A, XM_017024643.1:c.1304G>T, XM_006721903.3:c.1304G>A, XM_006721903.3:c.1304G>T, XM_006721903.2:c.1304G>A, XM_006721903.2:c.1304G>T, XM_006721903.1:c.1304G>A, XM_006721903.1:c.1304G>T, NM_031858.2:c.1514G>A, NM_031858.2:c.1514G>T, XM_024450749.2:c.1514G>A, XM_024450749.2:c.1514G>T, XM_024450749.1:c.1514G>A, XM_024450749.1:c.1514G>T, NM_001291572.2:c.1451G>A, NM_001291572.2:c.1451G>T, NM_001291572.1:c.1451G>A, NM_001291572.1:c.1451G>T, NM_001291571.2:c.1514G>A, NM_001291571.2:c.1514G>T, NM_001291571.1:c.1514G>A, NM_001291571.1:c.1514G>T, XM_047436061.1:c.1514G>A, XM_047436061.1:c.1514G>T, NP_005890.2:p.Cys505Tyr, NP_005890.2:p.Cys505Phe, NP_114068.1:p.Cys505Tyr, NP_114068.1:p.Cys505Phe, XP_011523115.1:p.Cys505Tyr, XP_011523115.1:p.Cys505Phe, XP_016880132.1:p.Cys435Tyr, XP_016880132.1:p.Cys435Phe, XP_006721966.1:p.Cys435Tyr, XP_006721966.1:p.Cys435Phe, XP_024306517.1:p.Cys505Tyr, XP_024306517.1:p.Cys505Phe, NP_001278501.1:p.Cys484Tyr, NP_001278501.1:p.Cys484Phe, NP_001278500.1:p.Cys505Tyr, NP_001278500.1:p.Cys505Phe, XP_047292017.1:p.Cys505Tyr, XP_047292017.1:p.Cys505Phe

Select item 147361119615.

rs1473611196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:43193453 (GRCh38)
17:41345470 (GRCh37)
Canonical SPDI:: NC_000017.11:43193452:A:G
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.43193453A>G, NC_000017.10:g.41345470A>G, NG_005905.2:g.24531T>C, NM_005899.5:c.1339A>G, NM_005899.4:c.1339A>G, NM_005899.3:c.1339A>G, NM_031862.4:c.1339A>G, NM_031862.3:c.1339A>G, NM_031862.2:c.1339A>G, XM_011524813.3:c.1339A>G, XM_011524813.2:c.1339A>G, XM_011524813.1:c.1339A>G, XM_017024643.3:c.1129A>G, XM_017024643.2:c.1129A>G, XM_017024643.1:c.1129A>G, XM_006721903.3:c.1129A>G, XM_006721903.2:c.1129A>G, XM_006721903.1:c.1129A>G, NM_031858.2:c.1339A>G, XM_024450749.2:c.1339A>G, XM_024450749.1:c.1339A>G, NM_001291572.2:c.1276A>G, NM_001291572.1:c.1276A>G, NM_001291571.2:c.1339A>G, NM_001291571.1:c.1339A>G, XM_047436061.1:c.1339A>G, NP_005890.2:p.Ile447Val, NP_114068.1:p.Ile447Val, XP_011523115.1:p.Ile447Val, XP_016880132.1:p.Ile377Val, XP_006721966.1:p.Ile377Val, XP_024306517.1:p.Ile447Val, NP_001278501.1:p.Ile426Val, NP_001278500.1:p.Ile447Val, XP_047292017.1:p.Ile447Val

Select item 147289390116.

rs1472893901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43190658 (GRCh38)
17:41342675 (GRCh37)
Canonical SPDI:: NC_000017.11:43190657:G:A
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/7 (GnomAD_exomes)
A=0.000049/13 (TOPMED)
A=0.000086/12 (GnomAD)
HGVS:: NC_000017.11:g.43190658G>A, NC_000017.10:g.41342675G>A, NG_005905.2:g.27326C>T, NM_005899.5:c.745G>A, NM_005899.4:c.745G>A, NM_005899.3:c.745G>A, NM_031862.4:c.745G>A, NM_031862.3:c.745G>A, NM_031862.2:c.745G>A, XM_011524813.3:c.745G>A, XM_011524813.2:c.745G>A, XM_011524813.1:c.745G>A, XM_017024643.3:c.745G>A, XM_017024643.2:c.745G>A, XM_017024643.1:c.745G>A, XM_006721903.3:c.745G>A, XM_006721903.2:c.745G>A, XM_006721903.1:c.745G>A, NM_031858.2:c.745G>A, XM_024450749.2:c.745G>A, XM_024450749.1:c.745G>A, NM_001291572.2:c.682G>A, NM_001291572.1:c.682G>A, NM_001291571.2:c.745G>A, NM_001291571.1:c.745G>A, XM_047436061.1:c.745G>A, NP_005890.2:p.Gly249Ser, NP_114068.1:p.Gly249Ser, XP_011523115.1:p.Gly249Ser, XP_016880132.1:p.Gly249Ser, XP_006721966.1:p.Gly249Ser, XP_024306517.1:p.Gly249Ser, NP_001278501.1:p.Gly228Ser, NP_001278500.1:p.Gly249Ser, XP_047292017.1:p.Gly249Ser

Select item 147284215817.

rs1472842158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43209902 (GRCh38)
17:41361921 (GRCh37)
Canonical SPDI:: NC_000017.11:43209901:C:T
Gene:: NBR1 (Varview), TMEM106A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,upstream_transcript_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_000017.11:g.43209902C>T, NC_000017.10:g.41361921C>T, NG_005905.2:g.8080G>A, NM_005899.5:c.2729C>T, NM_005899.4:c.2729C>T, NM_005899.3:c.2729C>T, NM_031862.4:c.2729C>T, NM_031862.3:c.2729C>T, NM_031862.2:c.2729C>T, XM_011524813.3:c.2729C>T, XM_011524813.2:c.2729C>T, XM_011524813.1:c.2729C>T, XM_017024643.3:c.2519C>T, XM_017024643.2:c.2519C>T, XM_017024643.1:c.2519C>T, XM_006721903.3:c.2519C>T, XM_006721903.2:c.2519C>T, XM_006721903.1:c.2519C>T, NM_031858.2:c.2729C>T, XM_024450749.2:c.2729C>T, XM_024450749.1:c.2729C>T, NM_001291572.2:c.2502C>T, NM_001291572.1:c.2502C>T, XM_047436061.1:c.2729C>T, NP_005890.2:p.Pro910Leu, NP_114068.1:p.Pro910Leu, XP_011523115.1:p.Pro910Leu, XP_016880132.1:p.Pro840Leu, XP_006721966.1:p.Pro840Leu, XP_024306517.1:p.Pro910Leu, XP_047292017.1:p.Pro910Leu

Select item 147250053718.

rs1472500537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:43201762 (GRCh38)
17:41353779 (GRCh37)
Canonical SPDI:: NC_000017.11:43201761:C:A
Gene:: NBR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43201762C>A, NC_000017.10:g.41353779C>A, NG_005905.2:g.16222G>T, NM_005899.5:c.2545C>A, NM_005899.4:c.2545C>A, NM_005899.3:c.2545C>A, NM_031862.4:c.2545C>A, NM_031862.3:c.2545C>A, NM_031862.2:c.2545C>A, XM_011524813.3:c.2545C>A, XM_011524813.2:c.2545C>A, XM_011524813.1:c.2545C>A, XM_017024643.3:c.2335C>A, XM_017024643.2:c.2335C>A, XM_017024643.1:c.2335C>A, XM_006721903.3:c.2335C>A, XM_006721903.2:c.2335C>A, XM_006721903.1:c.2335C>A, NM_031858.2:c.2545C>A, XM_024450749.2:c.2545C>A, XM_024450749.1:c.2545C>A, NM_001291572.2:c.2482C>A, NM_001291572.1:c.2482C>A, NM_001291571.2:c.2545C>A, NM_001291571.1:c.2545C>A, XM_047436061.1:c.2545C>A, NP_005890.2:p.Pro849Thr, NP_114068.1:p.Pro849Thr, XP_011523115.1:p.Pro849Thr, XP_016880132.1:p.Pro779Thr, XP_006721966.1:p.Pro779Thr, XP_024306517.1:p.Pro849Thr, NP_001278501.1:p.Pro828Thr, NP_001278500.1:p.Pro849Thr, XP_047292017.1:p.Pro849Thr

Select item 146834279619.

rs1468342796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:43189095 (GRCh38)
17:41341112 (GRCh37)
Canonical SPDI:: NC_000017.11:43189094:C:G
Gene:: NBR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43189095C>G, NC_000017.10:g.41341112C>G, NG_005905.2:g.28889G>C, NM_005899.5:c.456C>G, NM_005899.4:c.456C>G, NM_005899.3:c.456C>G, NM_031862.4:c.456C>G, NM_031862.3:c.456C>G, NM_031862.2:c.456C>G, XM_011524813.3:c.456C>G, XM_011524813.2:c.456C>G, XM_011524813.1:c.456C>G, XM_017024643.3:c.456C>G, XM_017024643.2:c.456C>G, XM_017024643.1:c.456C>G, XM_006721903.3:c.456C>G, XM_006721903.2:c.456C>G, XM_006721903.1:c.456C>G, NM_031858.2:c.456C>G, XM_024450749.2:c.456C>G, XM_024450749.1:c.456C>G, NM_001291572.2:c.393C>G, NM_001291572.1:c.393C>G, NM_001291571.2:c.456C>G, NM_001291571.1:c.456C>G, XM_047436061.1:c.456C>G, NP_005890.2:p.Asp152Glu, NP_114068.1:p.Asp152Glu, XP_011523115.1:p.Asp152Glu, XP_016880132.1:p.Asp152Glu, XP_006721966.1:p.Asp152Glu, XP_024306517.1:p.Asp152Glu, NP_001278501.1:p.Asp131Glu, NP_001278500.1:p.Asp152Glu, XP_047292017.1:p.Asp152Glu

Select item 146760014620.

rs1467600146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43200253 (GRCh38)
17:41352270 (GRCh37)
Canonical SPDI:: NC_000017.11:43200252:G:A
Gene:: NBR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43200253G>A, NC_000017.10:g.41352270G>A, NG_005905.2:g.17731C>T, NM_005899.5:c.2113G>A, NM_005899.4:c.2113G>A, NM_005899.3:c.2113G>A, NM_031862.4:c.2113G>A, NM_031862.3:c.2113G>A, NM_031862.2:c.2113G>A, XM_011524813.3:c.2113G>A, XM_011524813.2:c.2113G>A, XM_011524813.1:c.2113G>A, XM_017024643.3:c.1903G>A, XM_017024643.2:c.1903G>A, XM_017024643.1:c.1903G>A, XM_006721903.3:c.1903G>A, XM_006721903.2:c.1903G>A, XM_006721903.1:c.1903G>A, NM_031858.2:c.2113G>A, XM_024450749.2:c.2113G>A, XM_024450749.1:c.2113G>A, NM_001291572.2:c.2050G>A, NM_001291572.1:c.2050G>A, NM_001291571.2:c.2113G>A, NM_001291571.1:c.2113G>A, XM_047436061.1:c.2113G>A, NP_005890.2:p.Glu705Lys, NP_114068.1:p.Glu705Lys, XP_011523115.1:p.Glu705Lys, XP_016880132.1:p.Glu635Lys, XP_006721966.1:p.Glu635Lys, XP_024306517.1:p.Glu705Lys, NP_001278501.1:p.Glu684Lys, NP_001278500.1:p.Glu705Lys, XP_047292017.1:p.Glu705Lys

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