SNP Links for Protein (Select 23097323) - SNP

Links from Protein

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Select item 14902143461.

rs1490214346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65388811 (GRCh38)
7:64853724 (GRCh37)
Canonical SPDI:: NC_000007.14:65388810:G:A
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.65388811G>A, NC_000007.13:g.64853724G>A, NM_152626.4:c.136G>A, NM_152626.3:c.136G>A, NM_152626.2:c.136G>A, NM_007139.4:c.-72G>A, NM_007139.3:c.-72G>A, NM_007139.2:c.-72G>A, NM_001287533.2:c.-215G>A, NM_001287533.1:c.-215G>A, NP_689839.1:p.Ala46Thr

Select item 14896792552.

rs1489679255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65398582 (GRCh38)
7:64863495 (GRCh37)
Canonical SPDI:: NC_000007.14:65398581:A:G
Gene:: ZNF92 (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)
HGVS:: NC_000007.14:g.65398582A>G, NC_000007.13:g.64863495A>G, NM_152626.4:c.468A>G, NM_152626.3:c.468A>G, NM_152626.2:c.468A>G, NM_007139.4:c.261A>G, NM_007139.3:c.261A>G, NM_007139.2:c.261A>G, NM_001287533.2:c.240A>G, NM_001287533.1:c.240A>G, NM_001287532.2:c.372A>G, NM_001287532.1:c.372A>G, NM_001287534.2:c.240A>G, NM_001287534.1:c.240A>G

Select item 14870833973.

rs1487083397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65398457 (GRCh38)
7:64863370 (GRCh37)
Canonical SPDI:: NC_000007.14:65398456:A:G
Gene:: ZNF92 (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=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.65398457A>G, NC_000007.13:g.64863370A>G, NM_152626.4:c.343A>G, NM_152626.3:c.343A>G, NM_152626.2:c.343A>G, NM_007139.4:c.136A>G, NM_007139.3:c.136A>G, NM_007139.2:c.136A>G, NM_001287533.2:c.115A>G, NM_001287533.1:c.115A>G, NM_001287532.2:c.247A>G, NM_001287532.1:c.247A>G, NM_001287534.2:c.115A>G, NM_001287534.1:c.115A>G, NP_689839.1:p.Lys115Glu, NP_009070.2:p.Lys46Glu, NP_001274462.1:p.Lys39Glu, NP_001274461.1:p.Lys83Glu, NP_001274463.1:p.Lys39Glu

Select item 14851310624.

rs1485131062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65399192 (GRCh38)
7:64864105 (GRCh37)
Canonical SPDI:: NC_000007.14:65399191:A:G
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65399192A>G, NC_000007.13:g.64864105A>G, NM_152626.4:c.1078A>G, NM_152626.3:c.1078A>G, NM_152626.2:c.1078A>G, NM_007139.4:c.871A>G, NM_007139.3:c.871A>G, NM_007139.2:c.871A>G, NM_001287533.2:c.850A>G, NM_001287533.1:c.850A>G, NM_001287532.2:c.982A>G, NM_001287532.1:c.982A>G, NM_001287534.2:c.850A>G, NM_001287534.1:c.850A>G, NP_689839.1:p.Lys360Glu, NP_009070.2:p.Lys291Glu, NP_001274462.1:p.Lys284Glu, NP_001274461.1:p.Lys328Glu, NP_001274463.1:p.Lys284Glu

Select item 14851101815.

rs1485110181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65398530 (GRCh38)
7:64863443 (GRCh37)
Canonical SPDI:: NC_000007.14:65398529:C:T
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65398530C>T, NC_000007.13:g.64863443C>T, NM_152626.4:c.416C>T, NM_152626.3:c.416C>T, NM_152626.2:c.416C>T, NM_007139.4:c.209C>T, NM_007139.3:c.209C>T, NM_007139.2:c.209C>T, NM_001287533.2:c.188C>T, NM_001287533.1:c.188C>T, NM_001287532.2:c.320C>T, NM_001287532.1:c.320C>T, NM_001287534.2:c.188C>T, NM_001287534.1:c.188C>T, NP_689839.1:p.Thr139Ile, NP_009070.2:p.Thr70Ile, NP_001274462.1:p.Thr63Ile, NP_001274461.1:p.Thr107Ile, NP_001274463.1:p.Thr63Ile

Select item 14843821476.

rs1484382147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:65399791 (GRCh38)
7:64864704 (GRCh37)
Canonical SPDI:: NC_000007.14:65399790:T:C
Gene:: ZNF92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.65399791T>C, NC_000007.13:g.64864704T>C, NM_152626.4:c.1677T>C, NM_152626.3:c.1677T>C, NM_152626.2:c.1677T>C, NM_007139.4:c.1470T>C, NM_007139.3:c.1470T>C, NM_007139.2:c.1470T>C, NM_001287533.2:c.1449T>C, NM_001287533.1:c.1449T>C, NM_001287532.2:c.1581T>C, NM_001287532.1:c.1581T>C, NM_001287534.2:c.1449T>C, NM_001287534.1:c.1449T>C

Select item 14843631167.

rs1484363116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65398981 (GRCh38)
7:64863894 (GRCh37)
Canonical SPDI:: NC_000007.14:65398980:A:G
Gene:: ZNF92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65398981A>G, NC_000007.13:g.64863894A>G, NM_152626.4:c.867A>G, NM_152626.3:c.867A>G, NM_152626.2:c.867A>G, NM_007139.4:c.660A>G, NM_007139.3:c.660A>G, NM_007139.2:c.660A>G, NM_001287533.2:c.639A>G, NM_001287533.1:c.639A>G, NM_001287532.2:c.771A>G, NM_001287532.1:c.771A>G, NM_001287534.2:c.639A>G, NM_001287534.1:c.639A>G

Select item 14825225788.

rs1482522578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65399595 (GRCh38)
7:64864508 (GRCh37)
Canonical SPDI:: NC_000007.14:65399594:C:T
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000007.14:g.65399595C>T, NC_000007.13:g.64864508C>T, NM_152626.4:c.1481C>T, NM_152626.3:c.1481C>T, NM_152626.2:c.1481C>T, NM_007139.4:c.1274C>T, NM_007139.3:c.1274C>T, NM_007139.2:c.1274C>T, NM_001287533.2:c.1253C>T, NM_001287533.1:c.1253C>T, NM_001287532.2:c.1385C>T, NM_001287532.1:c.1385C>T, NM_001287534.2:c.1253C>T, NM_001287534.1:c.1253C>T, NP_689839.1:p.Ser494Leu, NP_009070.2:p.Ser425Leu, NP_001274462.1:p.Ser418Leu, NP_001274461.1:p.Ser462Leu, NP_001274463.1:p.Ser418Leu

Select item 14810265459.

rs1481026545 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65399052 (GRCh38)
7:64863965 (GRCh37)
Canonical SPDI:: NC_000007.14:65399051:A:G
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65399052A>G, NC_000007.13:g.64863965A>G, NM_152626.4:c.938A>G, NM_152626.3:c.938A>G, NM_152626.2:c.938A>G, NM_007139.4:c.731A>G, NM_007139.3:c.731A>G, NM_007139.2:c.731A>G, NM_001287533.2:c.710A>G, NM_001287533.1:c.710A>G, NM_001287532.2:c.842A>G, NM_001287532.1:c.842A>G, NM_001287534.2:c.710A>G, NM_001287534.1:c.710A>G, NP_689839.1:p.Tyr313Cys, NP_009070.2:p.Tyr244Cys, NP_001274462.1:p.Tyr237Cys, NP_001274461.1:p.Tyr281Cys, NP_001274463.1:p.Tyr237Cys

Select item 148099741010.

rs1480997410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65388885 (GRCh38)
7:64853798 (GRCh37)
Canonical SPDI:: NC_000007.14:65388884:G:A
Gene:: ZNF92 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65388885G>A, NC_000007.13:g.64853798G>A, NM_152626.4:c.210G>A, NM_152626.3:c.210G>A, NM_152626.2:c.210G>A, NM_007139.4:c.3G>A, NM_007139.3:c.3G>A, NM_007139.2:c.3G>A, NM_001287533.2:c.-141G>A, NM_001287533.1:c.-141G>A, NP_689839.1:p.Met70Ile, NP_009070.2:p.Met1Ile

Select item 147928327711.

rs1479283277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:65398386 (GRCh38)
7:64863299 (GRCh37)
Canonical SPDI:: NC_000007.14:65398385:T:G
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0011/2 (Korea1K)
HGVS:: NC_000007.14:g.65398386T>G, NC_000007.13:g.64863299T>G, NM_152626.4:c.272T>G, NM_152626.3:c.272T>G, NM_152626.2:c.272T>G, NM_007139.4:c.65T>G, NM_007139.3:c.65T>G, NM_007139.2:c.65T>G, NM_001287533.2:c.44T>G, NM_001287533.1:c.44T>G, NM_001287532.2:c.176T>G, NM_001287532.1:c.176T>G, NM_001287534.2:c.44T>G, NM_001287534.1:c.44T>G, NP_689839.1:p.Ile91Arg, NP_009070.2:p.Ile22Arg, NP_001274462.1:p.Ile15Arg, NP_001274461.1:p.Ile59Arg, NP_001274463.1:p.Ile15Arg

Select item 147846243412.

rs1478462434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65399468 (GRCh38)
7:64864381 (GRCh37)
Canonical SPDI:: NC_000007.14:65399467:C:T
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65399468C>T, NC_000007.13:g.64864381C>T, NM_152626.4:c.1354C>T, NM_152626.3:c.1354C>T, NM_152626.2:c.1354C>T, NM_007139.4:c.1147C>T, NM_007139.3:c.1147C>T, NM_007139.2:c.1147C>T, NM_001287533.2:c.1126C>T, NM_001287533.1:c.1126C>T, NM_001287532.2:c.1258C>T, NM_001287532.1:c.1258C>T, NM_001287534.2:c.1126C>T, NM_001287534.1:c.1126C>T, NP_689839.1:p.Pro452Ser, NP_009070.2:p.Pro383Ser, NP_001274462.1:p.Pro376Ser, NP_001274461.1:p.Pro420Ser, NP_001274463.1:p.Pro376Ser

Select item 147647426113.

rs1476474261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:65398870 (GRCh38)
7:64863783 (GRCh37)
Canonical SPDI:: NC_000007.14:65398869:T:A
Gene:: ZNF92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65398870T>A, NC_000007.13:g.64863783T>A, NM_152626.4:c.756T>A, NM_152626.3:c.756T>A, NM_152626.2:c.756T>A, NM_007139.4:c.549T>A, NM_007139.3:c.549T>A, NM_007139.2:c.549T>A, NM_001287533.2:c.528T>A, NM_001287533.1:c.528T>A, NM_001287532.2:c.660T>A, NM_001287532.1:c.660T>A, NM_001287534.2:c.528T>A, NM_001287534.1:c.528T>A

Select item 147641824314.

rs1476418243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:65398469 (GRCh38)
7:64863382 (GRCh37)
Canonical SPDI:: NC_000007.14:65398468:A:G,NC_000007.14:65398468:A:T
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.65398469A>G, NC_000007.14:g.65398469A>T, NC_000007.13:g.64863382A>G, NC_000007.13:g.64863382A>T, NM_152626.4:c.355A>G, NM_152626.4:c.355A>T, NM_152626.3:c.355A>G, NM_152626.3:c.355A>T, NM_152626.2:c.355A>G, NM_152626.2:c.355A>T, NM_007139.4:c.148A>G, NM_007139.4:c.148A>T, NM_007139.3:c.148A>G, NM_007139.3:c.148A>T, NM_007139.2:c.148A>G, NM_007139.2:c.148A>T, NM_001287533.2:c.127A>G, NM_001287533.2:c.127A>T, NM_001287533.1:c.127A>G, NM_001287533.1:c.127A>T, NM_001287532.2:c.259A>G, NM_001287532.2:c.259A>T, NM_001287532.1:c.259A>G, NM_001287532.1:c.259A>T, NM_001287534.2:c.127A>G, NM_001287534.2:c.127A>T, NM_001287534.1:c.127A>G, NM_001287534.1:c.127A>T, NP_689839.1:p.Ser119Gly, NP_689839.1:p.Ser119Cys, NP_009070.2:p.Ser50Gly, NP_009070.2:p.Ser50Cys, NP_001274462.1:p.Ser43Gly, NP_001274462.1:p.Ser43Cys, NP_001274461.1:p.Ser87Gly, NP_001274461.1:p.Ser87Cys, NP_001274463.1:p.Ser43Gly, NP_001274463.1:p.Ser43Cys

Select item 147549715915.

rs1475497159 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:65399329 (GRCh38)
7:64864242 (GRCh37)
Canonical SPDI:: NC_000007.14:65399328:TTTT:TTT
Gene:: ZNF92 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.65399332del, NC_000007.13:g.64864245del, NM_152626.4:c.1218del, NM_152626.3:c.1218del, NM_152626.2:c.1218del, NM_007139.4:c.1011del, NM_007139.3:c.1011del, NM_007139.2:c.1011del, NM_001287533.2:c.990del, NM_001287533.1:c.990del, NM_001287532.2:c.1122del, NM_001287532.1:c.1122del, NM_001287534.2:c.990del, NM_001287534.1:c.990del, NP_689839.1:p.Phe406fs, NP_009070.2:p.Phe337fs, NP_001274462.1:p.Phe330fs, NP_001274461.1:p.Phe374fs, NP_001274463.1:p.Phe330fs

Select item 147518500616.

rs1475185006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:65398755 (GRCh38)
7:64863668 (GRCh37)
Canonical SPDI:: NC_000007.14:65398754:C:T
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/2 (TOMMO)
HGVS:: NC_000007.14:g.65398755C>T, NC_000007.13:g.64863668C>T, NM_152626.4:c.641C>T, NM_152626.3:c.641C>T, NM_152626.2:c.641C>T, NM_007139.4:c.434C>T, NM_007139.3:c.434C>T, NM_007139.2:c.434C>T, NM_001287533.2:c.413C>T, NM_001287533.1:c.413C>T, NM_001287532.2:c.545C>T, NM_001287532.1:c.545C>T, NM_001287534.2:c.413C>T, NM_001287534.1:c.413C>T, NP_689839.1:p.Ser214Leu, NP_009070.2:p.Ser145Leu, NP_001274462.1:p.Ser138Leu, NP_001274461.1:p.Ser182Leu, NP_001274463.1:p.Ser138Leu

Select item 147481536317.

rs1474815363 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:65398381 (GRCh38)
7:64863294 (GRCh37)
Canonical SPDI:: NC_000007.14:65398380:C:
Gene:: ZNF92 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0004/6 (ALFA)
-=0.00109/2 (Korea1K)
-=0.00134/6 (Estonian)
HGVS:: NC_000007.14:g.65398381del, NC_000007.13:g.64863294del, NM_152626.4:c.267del, NM_152626.3:c.267del, NM_152626.2:c.267del, NM_007139.4:c.60del, NM_007139.3:c.60del, NM_007139.2:c.60del, NM_001287533.2:c.39del, NM_001287533.1:c.39del, NM_001287532.2:c.171del, NM_001287532.1:c.171del, NM_001287534.2:c.39del, NM_001287534.1:c.39del, NP_689839.1:p.His89fs, NP_009070.2:p.His20fs, NP_001274462.1:p.His13fs, NP_001274461.1:p.His57fs, NP_001274463.1:p.His13fs

Select item 147407257518.

rs1474072575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:65399676 (GRCh38)
7:64864589 (GRCh37)
Canonical SPDI:: NC_000007.14:65399675:C:A
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65399676C>A, NC_000007.13:g.64864589C>A, NM_152626.4:c.1562C>A, NM_152626.3:c.1562C>A, NM_152626.2:c.1562C>A, NM_007139.4:c.1355C>A, NM_007139.3:c.1355C>A, NM_007139.2:c.1355C>A, NM_001287533.2:c.1334C>A, NM_001287533.1:c.1334C>A, NM_001287532.2:c.1466C>A, NM_001287532.1:c.1466C>A, NM_001287534.2:c.1334C>A, NM_001287534.1:c.1334C>A, NP_689839.1:p.Ser521Tyr, NP_009070.2:p.Ser452Tyr, NP_001274462.1:p.Ser445Tyr, NP_001274461.1:p.Ser489Tyr, NP_001274463.1:p.Ser445Tyr

Select item 146907576519.

rs1469075765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:65398478 (GRCh38)
7:64863391 (GRCh37)
Canonical SPDI:: NC_000007.14:65398477:G:A
Gene:: ZNF92 (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_000007.14:g.65398478G>A, NC_000007.13:g.64863391G>A, NM_152626.4:c.364G>A, NM_152626.3:c.364G>A, NM_152626.2:c.364G>A, NM_007139.4:c.157G>A, NM_007139.3:c.157G>A, NM_007139.2:c.157G>A, NM_001287533.2:c.136G>A, NM_001287533.1:c.136G>A, NM_001287532.2:c.268G>A, NM_001287532.1:c.268G>A, NM_001287534.2:c.136G>A, NM_001287534.1:c.136G>A, NP_689839.1:p.Ala122Thr, NP_009070.2:p.Ala53Thr, NP_001274462.1:p.Ala46Thr, NP_001274461.1:p.Ala90Thr, NP_001274463.1:p.Ala46Thr

Select item 146819715220.

rs1468197152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:65398542 (GRCh38)
7:64863455 (GRCh37)
Canonical SPDI:: NC_000007.14:65398541:A:G
Gene:: ZNF92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.65398542A>G, NC_000007.13:g.64863455A>G, NM_152626.4:c.428A>G, NM_152626.3:c.428A>G, NM_152626.2:c.428A>G, NM_007139.4:c.221A>G, NM_007139.3:c.221A>G, NM_007139.2:c.221A>G, NM_001287533.2:c.200A>G, NM_001287533.1:c.200A>G, NM_001287532.2:c.332A>G, NM_001287532.1:c.332A>G, NM_001287534.2:c.200A>G, NM_001287534.1:c.200A>G, NP_689839.1:p.Lys143Arg, NP_009070.2:p.Lys74Arg, NP_001274462.1:p.Lys67Arg, NP_001274461.1:p.Lys111Arg, NP_001274463.1:p.Lys67Arg

dbSNP

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