SNP Links for Protein (Select 37594464) - SNP

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Links from Protein

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Select item 14850259461.

rs1485025946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:12173757 (GRCh38)
10:12215756 (GRCh37)
Canonical SPDI:: NC_000010.11:12173756:C:G,NC_000010.11:12173756:C:T
Gene:: NUDT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.12173757C>G, NC_000010.11:g.12173757C>T, NC_000010.10:g.12215756C>G, NC_000010.10:g.12215756C>T, NM_014142.4:c.346G>C, NM_014142.4:c.346G>A, NM_014142.3:c.346G>C, NM_014142.3:c.346G>A, NM_014142.2:c.346G>C, NM_014142.2:c.346G>A, NM_001321648.2:c.88G>C, NM_001321648.2:c.88G>A, NM_001321648.1:c.88G>C, NM_001321648.1:c.88G>A, NM_001321647.2:c.346G>C, NM_001321647.2:c.346G>A, NM_001321647.1:c.346G>C, NM_001321647.1:c.346G>A, NP_054861.2:p.Glu116Gln, NP_054861.2:p.Glu116Lys, NP_001308577.1:p.Glu30Gln, NP_001308577.1:p.Glu30Lys, NP_001308576.1:p.Glu116Gln, NP_001308576.1:p.Glu116Lys

Select item 14769528922.

rs1476952892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12167770 (GRCh38)
10:12209769 (GRCh37)
Canonical SPDI:: NC_000010.11:12167769:A:G
Gene:: NUDT5 (Varview), SEC61A2 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_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_000010.11:g.12167770A>G, NC_000010.10:g.12209769A>G, NM_014142.4:c.592T>C, NM_014142.3:c.592T>C, NM_014142.2:c.592T>C, NR_024577.3:n.1506A>G, NR_024577.2:n.1542A>G, NR_024577.1:n.1542A>G, NR_024576.3:n.1373A>G, NR_024576.2:n.1409A>G, NR_024576.1:n.1409A>G, NM_001321648.2:c.334T>C, NM_001321648.1:c.334T>C, NM_001321647.2:c.583T>C, NM_001321647.1:c.583T>C, NP_054861.2:p.Tyr198His, NP_001308577.1:p.Tyr112His, NP_001308576.1:p.Tyr195His

Select item 14754507063.

rs1475450706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:12172860 (GRCh38)
10:12214859 (GRCh37)
Canonical SPDI:: NC_000010.11:12172859:C:G,NC_000010.11:12172859:C:T
Gene:: NUDT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000010.11:g.12172860C>G, NC_000010.11:g.12172860C>T, NC_000010.10:g.12214859C>G, NC_000010.10:g.12214859C>T, NM_014142.4:c.392G>C, NM_014142.4:c.392G>A, NM_014142.3:c.392G>C, NM_014142.3:c.392G>A, NM_014142.2:c.392G>C, NM_014142.2:c.392G>A, NM_001321648.2:c.134G>C, NM_001321648.2:c.134G>A, NM_001321648.1:c.134G>C, NM_001321648.1:c.134G>A, NM_001321647.2:c.392G>C, NM_001321647.2:c.392G>A, NM_001321647.1:c.392G>C, NM_001321647.1:c.392G>A, NP_054861.2:p.Cys131Ser, NP_054861.2:p.Cys131Tyr, NP_001308577.1:p.Cys45Ser, NP_001308577.1:p.Cys45Tyr, NP_001308576.1:p.Cys131Ser, NP_001308576.1:p.Cys131Tyr

Select item 14754030214.

rs1475403021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:12177881 (GRCh38)
10:12219880 (GRCh37)
Canonical SPDI:: NC_000010.11:12177880:C:T
Gene:: NUDT5 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.12177881C>T, NC_000010.10:g.12219880C>T, NM_014142.4:c.201G>A, NM_014142.3:c.201G>A, NM_014142.2:c.201G>A, NM_001321648.2:c.-58G>A, NM_001321648.1:c.-58G>A, NM_001321647.2:c.201G>A, NM_001321647.1:c.201G>A

Select item 14651193815.

rs1465119381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12177822 (GRCh38)
10:12219821 (GRCh37)
Canonical SPDI:: NC_000010.11:12177821:A:G
Gene:: NUDT5 (Varview)
Functional Consequence:: coding_sequence_variant,initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.12177822A>G, NC_000010.10:g.12219821A>G, NM_014142.4:c.260T>C, NM_014142.3:c.260T>C, NM_014142.2:c.260T>C, NM_001321648.2:c.2T>C, NM_001321648.1:c.2T>C, NM_001321647.2:c.260T>C, NM_001321647.1:c.260T>C, NP_054861.2:p.Met87Thr, NP_001308577.1:p.Met1Thr, NP_001308576.1:p.Met87Thr

Select item 14620169066.

rs1462016906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:12172851 (GRCh38)
10:12214850 (GRCh37)
Canonical SPDI:: NC_000010.11:12172850:G:A,NC_000010.11:12172850:G:C
Gene:: NUDT5 (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.12172851G>A, NC_000010.11:g.12172851G>C, NC_000010.10:g.12214850G>A, NC_000010.10:g.12214850G>C, NM_014142.4:c.401C>T, NM_014142.4:c.401C>G, NM_014142.3:c.401C>T, NM_014142.3:c.401C>G, NM_014142.2:c.401C>T, NM_014142.2:c.401C>G, NM_001321648.2:c.143C>T, NM_001321648.2:c.143C>G, NM_001321648.1:c.143C>T, NM_001321648.1:c.143C>G, NM_001321647.2:c.401C>T, NM_001321647.2:c.401C>G, NM_001321647.1:c.401C>T, NM_001321647.1:c.401C>G, NP_054861.2:p.Pro134Leu, NP_054861.2:p.Pro134Arg, NP_001308577.1:p.Pro48Leu, NP_001308577.1:p.Pro48Arg, NP_001308576.1:p.Pro134Leu, NP_001308576.1:p.Pro134Arg

Select item 14477774467.

rs1447777446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:12170740 (GRCh38)
10:12212739 (GRCh37)
Canonical SPDI:: NC_000010.11:12170739:T:C
Gene:: NUDT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.12170740T>C, NC_000010.10:g.12212739T>C, NM_014142.4:c.527A>G, NM_014142.3:c.527A>G, NM_014142.2:c.527A>G, NM_001321648.2:c.269A>G, NM_001321648.1:c.269A>G, NM_001321647.2:c.518A>G, NM_001321647.1:c.518A>G, NP_054861.2:p.Asn176Ser, NP_001308577.1:p.Asn90Ser, NP_001308576.1:p.Asn173Ser

Select item 14445344238.

rs1444534423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:12173768 (GRCh38)
10:12215767 (GRCh37)
Canonical SPDI:: NC_000010.11:12173767:T:A,NC_000010.11:12173767:T:G
Gene:: NUDT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.12173768T>A, NC_000010.11:g.12173768T>G, NC_000010.10:g.12215767T>A, NC_000010.10:g.12215767T>G, NM_014142.4:c.335A>T, NM_014142.4:c.335A>C, NM_014142.3:c.335A>T, NM_014142.3:c.335A>C, NM_014142.2:c.335A>T, NM_014142.2:c.335A>C, NM_001321648.2:c.77A>T, NM_001321648.2:c.77A>C, NM_001321648.1:c.77A>T, NM_001321648.1:c.77A>C, NM_001321647.2:c.335A>T, NM_001321647.2:c.335A>C, NM_001321647.1:c.335A>T, NM_001321647.1:c.335A>C, NP_054861.2:p.Glu112Val, NP_054861.2:p.Glu112Ala, NP_001308577.1:p.Glu26Val, NP_001308577.1:p.Glu26Ala, NP_001308576.1:p.Glu112Val, NP_001308576.1:p.Glu112Ala

Select item 14360982189.

rs1436098218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:12167721 (GRCh38)
10:12209720 (GRCh37)
Canonical SPDI:: NC_000010.11:12167720:A:T
Gene:: NUDT5 (Varview), SEC61A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.12167721A>T, NC_000010.10:g.12209720A>T, NM_014142.4:c.641T>A, NM_014142.3:c.641T>A, NM_014142.2:c.641T>A, NM_001321648.2:c.383T>A, NM_001321648.1:c.383T>A, NM_001321647.2:c.632T>A, NM_001321647.1:c.632T>A, NP_054861.2:p.Val214Glu, NP_001308577.1:p.Val128Glu, NP_001308576.1:p.Val211Glu

Select item 142975843310.

rs1429758433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:12167787 (GRCh38)
10:12209786 (GRCh37)
Canonical SPDI:: NC_000010.11:12167786:G:A,NC_000010.11:12167786:G:C
Gene:: NUDT5 (Varview), SEC61A2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.12167787G>A, NC_000010.11:g.12167787G>C, NC_000010.10:g.12209786G>A, NC_000010.10:g.12209786G>C, NM_014142.4:c.575C>T, NM_014142.4:c.575C>G, NM_014142.3:c.575C>T, NM_014142.3:c.575C>G, NM_014142.2:c.575C>T, NM_014142.2:c.575C>G, NR_024577.3:n.1523G>A, NR_024577.3:n.1523G>C, NR_024577.2:n.1559G>A, NR_024577.2:n.1559G>C, NR_024577.1:n.1559G>A, NR_024577.1:n.1559G>C, NR_024576.3:n.1390G>A, NR_024576.3:n.1390G>C, NR_024576.2:n.1426G>A, NR_024576.2:n.1426G>C, NR_024576.1:n.1426G>A, NR_024576.1:n.1426G>C, NM_001321648.2:c.317C>T, NM_001321648.2:c.317C>G, NM_001321648.1:c.317C>T, NM_001321648.1:c.317C>G, NM_001321647.2:c.566C>T, NM_001321647.2:c.566C>G, NM_001321647.1:c.566C>T, NM_001321647.1:c.566C>G, NP_054861.2:p.Thr192Ile, NP_054861.2:p.Thr192Arg, NP_001308577.1:p.Thr106Ile, NP_001308577.1:p.Thr106Arg, NP_001308576.1:p.Thr189Ile, NP_001308576.1:p.Thr189Arg

Select item 142689510811.

rs1426895108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:12177805 (GRCh38)
10:12219804 (GRCh37)
Canonical SPDI:: NC_000010.11:12177804:C:G,NC_000010.11:12177804:C:T
Gene:: NUDT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.12177805C>G, NC_000010.11:g.12177805C>T, NC_000010.10:g.12219804C>G, NC_000010.10:g.12219804C>T, NM_014142.4:c.277G>C, NM_014142.4:c.277G>A, NM_014142.3:c.277G>C, NM_014142.3:c.277G>A, NM_014142.2:c.277G>C, NM_014142.2:c.277G>A, NM_001321648.2:c.19G>C, NM_001321648.2:c.19G>A, NM_001321648.1:c.19G>C, NM_001321648.1:c.19G>A, NM_001321647.2:c.277G>C, NM_001321647.2:c.277G>A, NM_001321647.1:c.277G>C, NM_001321647.1:c.277G>A, NP_054861.2:p.Glu93Gln, NP_054861.2:p.Glu93Lys, NP_001308577.1:p.Glu7Gln, NP_001308577.1:p.Glu7Lys, NP_001308576.1:p.Glu93Gln, NP_001308576.1:p.Glu93Lys

Select item 141854912212.

rs1418549122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:12172849 (GRCh38)
10:12214848 (GRCh37)
Canonical SPDI:: NC_000010.11:12172848:C:T
Gene:: NUDT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.12172849C>T, NC_000010.10:g.12214848C>T, NM_014142.4:c.403G>A, NM_014142.3:c.403G>A, NM_014142.2:c.403G>A, NM_001321648.2:c.145G>A, NM_001321648.1:c.145G>A, NM_001321647.2:c.403G>A, NM_001321647.1:c.403G>A, NP_054861.2:p.Gly135Ser, NP_001308577.1:p.Gly49Ser, NP_001308576.1:p.Gly135Ser

Select item 141810162413.

rs1418101624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:12172817 (GRCh38)
10:12214816 (GRCh37)
Canonical SPDI:: NC_000010.11:12172816:T:C,NC_000010.11:12172816:T:G
Gene:: NUDT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.12172817T>C, NC_000010.11:g.12172817T>G, NC_000010.10:g.12214816T>C, NC_000010.10:g.12214816T>G, NM_014142.4:c.435A>G, NM_014142.4:c.435A>C, NM_014142.3:c.435A>G, NM_014142.3:c.435A>C, NM_014142.2:c.435A>G, NM_014142.2:c.435A>C, NM_001321648.2:c.177A>G, NM_001321648.2:c.177A>C, NM_001321648.1:c.177A>G, NM_001321648.1:c.177A>C, NM_001321647.2:c.435A>G, NM_001321647.2:c.435A>C, NM_001321647.1:c.435A>G, NM_001321647.1:c.435A>C

Select item 141467120914.

rs1414671209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:12186274 (GRCh38)
10:12228273 (GRCh37)
Canonical SPDI:: NC_000010.11:12186273:T:C
Gene:: NUDT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_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_000010.11:g.12186274T>C, NC_000010.10:g.12228273T>C, NM_014142.4:c.18A>G, NM_014142.3:c.18A>G, NM_014142.2:c.18A>G, NM_001321648.2:c.-336A>G, NM_001321648.1:c.-336A>G, NM_001321647.2:c.18A>G, NM_001321647.1:c.18A>G

Select item 140758083015.

rs1407580830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:12177818 (GRCh38)
10:12219817 (GRCh37)
Canonical SPDI:: NC_000010.11:12177817:C:T
Gene:: NUDT5 (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)
HGVS:: NC_000010.11:g.12177818C>T, NC_000010.10:g.12219817C>T, NM_014142.4:c.264G>A, NM_014142.3:c.264G>A, NM_014142.2:c.264G>A, NM_001321648.2:c.6G>A, NM_001321648.1:c.6G>A, NM_001321647.2:c.264G>A, NM_001321647.1:c.264G>A

Select item 140282703516.

rs1402827035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:12179120 (GRCh38)
10:12221119 (GRCh37)
Canonical SPDI:: NC_000010.11:12179119:T:A
Gene:: NUDT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.12179120T>A, NC_000010.10:g.12221119T>A, NM_014142.4:c.144A>T, NM_014142.3:c.144A>T, NM_014142.2:c.144A>T, NM_001321648.2:c.-115A>T, NM_001321648.1:c.-115A>T, NM_001321647.2:c.144A>T, NM_001321647.1:c.144A>T

Select item 139995441017.

rs1399954410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12184934 (GRCh38)
10:12226933 (GRCh37)
Canonical SPDI:: NC_000010.11:12184933:A:G
Gene:: NUDT5 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.12184934A>G, NC_000010.10:g.12226933A>G, NM_014142.4:c.86T>C, NM_014142.3:c.86T>C, NM_014142.2:c.86T>C, NM_001321648.2:c.-268T>C, NM_001321648.1:c.-268T>C, NM_001321647.2:c.86T>C, NM_001321647.1:c.86T>C, NP_054861.2:p.Val29Ala, NP_001308576.1:p.Val29Ala

Select item 138955806018.

rs1389558060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:12173797 (GRCh38)
10:12215796 (GRCh37)
Canonical SPDI:: NC_000010.11:12173796:A:C
Gene:: NUDT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.12173797A>C, NC_000010.10:g.12215796A>C, NM_014142.4:c.306T>G, NM_014142.3:c.306T>G, NM_014142.2:c.306T>G, NM_001321648.2:c.48T>G, NM_001321648.1:c.48T>G, NM_001321647.2:c.306T>G, NM_001321647.1:c.306T>G

Select item 138669719319.

rs1386697193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:12184937 (GRCh38)
10:12226936 (GRCh37)
Canonical SPDI:: NC_000010.11:12184936:C:G,NC_000010.11:12184936:C:T
Gene:: NUDT5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.12184937C>G, NC_000010.11:g.12184937C>T, NC_000010.10:g.12226936C>G, NC_000010.10:g.12226936C>T, NM_014142.4:c.83G>C, NM_014142.4:c.83G>A, NM_014142.3:c.83G>C, NM_014142.3:c.83G>A, NM_014142.2:c.83G>C, NM_014142.2:c.83G>A, NM_001321648.2:c.-271G>C, NM_001321648.2:c.-271G>A, NM_001321648.1:c.-271G>C, NM_001321648.1:c.-271G>A, NM_001321647.2:c.83G>C, NM_001321647.2:c.83G>A, NM_001321647.1:c.83G>C, NM_001321647.1:c.83G>A, NP_054861.2:p.Trp28Ser, NP_054861.2:p.Trp28Ter, NP_001308576.1:p.Trp28Ser, NP_001308576.1:p.Trp28Ter

Select item 138627454320.

rs1386274543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:12170731 (GRCh38)
10:12212730 (GRCh37)
Canonical SPDI:: NC_000010.11:12170730:A:G
Gene:: NUDT5 (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)
HGVS:: NC_000010.11:g.12170731A>G, NC_000010.10:g.12212730A>G, NM_014142.4:c.536T>C, NM_014142.3:c.536T>C, NM_014142.2:c.536T>C, NM_001321648.2:c.278T>C, NM_001321648.1:c.278T>C, NM_001321647.2:c.527T>C, NM_001321647.1:c.527T>C, NP_054861.2:p.Leu179Pro, NP_001308577.1:p.Leu93Pro, NP_001308576.1:p.Leu176Pro

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