SNP Links for Protein (Select 237874249) - SNP

Links from Protein

Items: 1 to 20 of 291

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Select item 14896516381.

rs1489651638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100922894 (GRCh38)
X:100177883 (GRCh37)
Canonical SPDI:: NC_000023.11:100922893:T:C
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.100922894T>C, NC_000023.10:g.100177883T>C, NG_021224.1:g.11016A>G, NM_212559.3:c.503A>G, NM_212559.2:c.503A>G, XM_011530954.4:c.542A>G, XM_011530954.3:c.542A>G, XM_011530954.2:c.542A>G, XM_011530954.1:c.542A>G, XM_011530955.2:c.155A>G, XM_011530955.1:c.155A>G, NP_997724.2:p.Tyr168Cys, XP_011529256.1:p.Tyr181Cys, XP_011529257.1:p.Tyr52Cys

Select item 14869806582.

rs1486980658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100922811 (GRCh38)
X:100177800 (GRCh37)
Canonical SPDI:: NC_000023.11:100922810:C:T
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100922811C>T, NC_000023.10:g.100177800C>T, NG_021224.1:g.11099G>A, NM_212559.3:c.586G>A, NM_212559.2:c.586G>A, XM_011530954.4:c.625G>A, XM_011530954.3:c.625G>A, XM_011530954.2:c.625G>A, XM_011530954.1:c.625G>A, XM_011530955.2:c.238G>A, XM_011530955.1:c.238G>A, NP_997724.2:p.Glu196Lys, XP_011529256.1:p.Glu209Lys, XP_011529257.1:p.Glu80Lys

Select item 14814551273.

rs1481455127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:100914696 (GRCh38)
X:100169685 (GRCh37)
Canonical SPDI:: NC_000023.11:100914695:T:A
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100914696T>A, NC_000023.10:g.100169685T>A, NG_021224.1:g.19214A>T, NM_212559.3:c.992A>T, NM_212559.2:c.992A>T, XM_011530954.4:c.1031A>T, XM_011530954.3:c.1031A>T, XM_011530954.2:c.1031A>T, XM_011530954.1:c.1031A>T, XM_011530955.2:c.644A>T, XM_011530955.1:c.644A>T, XM_017029517.2:c.380A>T, XM_017029517.1:c.380A>T, NP_997724.2:p.Gln331Leu, XP_011529256.1:p.Gln344Leu, XP_011529257.1:p.Gln215Leu, XP_016885006.1:p.Gln127Leu

Select item 14749931354.

rs1474993135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100914742 (GRCh38)
X:100169731 (GRCh37)
Canonical SPDI:: NC_000023.11:100914741:T:C
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100914742T>C, NC_000023.10:g.100169731T>C, NG_021224.1:g.19168A>G, NM_212559.3:c.946A>G, NM_212559.2:c.946A>G, XM_011530954.4:c.985A>G, XM_011530954.3:c.985A>G, XM_011530954.2:c.985A>G, XM_011530954.1:c.985A>G, XM_011530955.2:c.598A>G, XM_011530955.1:c.598A>G, XM_017029517.2:c.334A>G, XM_017029517.1:c.334A>G, NP_997724.2:p.Thr316Ala, XP_011529256.1:p.Thr329Ala, XP_011529257.1:p.Thr200Ala, XP_016885006.1:p.Thr112Ala

Select item 14735180925.

rs1473518092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100914451 (GRCh38)
X:100169440 (GRCh37)
Canonical SPDI:: NC_000023.11:100914450:T:C
Gene:: XKRX (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.100914451T>C, NC_000023.10:g.100169440T>C, NG_021224.1:g.19459A>G, NM_212559.3:c.1237A>G, NM_212559.2:c.1237A>G, XM_011530955.2:c.889A>G, XM_011530955.1:c.889A>G, XM_017029517.2:c.625A>G, XM_017029517.1:c.625A>G, NP_997724.2:p.Thr413Ala, XP_011529257.1:p.Thr297Ala, XP_016885006.1:p.Thr209Ala

Select item 14688859436.

rs1468885943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100914630 (GRCh38)
X:100169619 (GRCh37)
Canonical SPDI:: NC_000023.11:100914629:T:C
Gene:: XKRX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.100914630T>C, NC_000023.10:g.100169619T>C, NG_021224.1:g.19280A>G, NM_212559.3:c.1058A>G, NM_212559.2:c.1058A>G, XM_011530954.4:c.1097A>G, XM_011530954.3:c.1097A>G, XM_011530954.2:c.1097A>G, XM_011530954.1:c.1097A>G, XM_011530955.2:c.710A>G, XM_011530955.1:c.710A>G, XM_017029517.2:c.446A>G, XM_017029517.1:c.446A>G, NP_997724.2:p.Tyr353Cys, XP_011529256.1:p.Tyr366Cys, XP_011529257.1:p.Tyr237Cys, XP_016885006.1:p.Tyr149Cys

Select item 14610521257.

rs1461052125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:100914450 (GRCh38)
X:100169439 (GRCh37)
Canonical SPDI:: NC_000023.11:100914449:G:A
Gene:: XKRX (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100914450G>A, NC_000023.10:g.100169439G>A, NG_021224.1:g.19460C>T, NM_212559.3:c.1238C>T, NM_212559.2:c.1238C>T, XM_011530955.2:c.890C>T, XM_011530955.1:c.890C>T, XM_017029517.2:c.626C>T, XM_017029517.1:c.626C>T, NP_997724.2:p.Thr413Ile, XP_011529257.1:p.Thr297Ile, XP_016885006.1:p.Thr209Ile

Select item 14510911108.

rs1451091110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:100914848 (GRCh38)
X:100169837 (GRCh37)
Canonical SPDI:: NC_000023.11:100914847:G:A
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914848G>A, NC_000023.10:g.100169837G>A, NG_021224.1:g.19062C>T, NM_212559.3:c.840C>T, NM_212559.2:c.840C>T, XM_011530954.4:c.879C>T, XM_011530954.3:c.879C>T, XM_011530954.2:c.879C>T, XM_011530954.1:c.879C>T, XM_011530955.2:c.492C>T, XM_011530955.1:c.492C>T, XM_017029517.2:c.228C>T, XM_017029517.1:c.228C>T

Select item 14429709199.

rs1442970919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:100914918 (GRCh38)
X:100169907 (GRCh37)
Canonical SPDI:: NC_000023.11:100914917:A:G
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914918A>G, NC_000023.10:g.100169907A>G, NG_021224.1:g.18992T>C, NM_212559.3:c.770T>C, NM_212559.2:c.770T>C, XM_011530954.4:c.809T>C, XM_011530954.3:c.809T>C, XM_011530954.2:c.809T>C, XM_011530954.1:c.809T>C, XM_011530955.2:c.422T>C, XM_011530955.1:c.422T>C, XM_017029517.2:c.158T>C, XM_017029517.1:c.158T>C, NP_997724.2:p.Ile257Thr, XP_011529256.1:p.Ile270Thr, XP_011529257.1:p.Ile141Thr, XP_016885006.1:p.Ile53Thr

Select item 143996369410.

rs1439963694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:100914492 (GRCh38)
X:100169481 (GRCh37)
Canonical SPDI:: NC_000023.11:100914491:A:G
Gene:: XKRX (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914492A>G, NC_000023.10:g.100169481A>G, NG_021224.1:g.19418T>C, NM_212559.3:c.1196T>C, NM_212559.2:c.1196T>C, XM_011530955.2:c.848T>C, XM_011530955.1:c.848T>C, XM_017029517.2:c.584T>C, XM_017029517.1:c.584T>C, NP_997724.2:p.Leu399Pro, XP_011529257.1:p.Leu283Pro, XP_016885006.1:p.Leu195Pro

Select item 143677935111.

rs1436779351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100915029 (GRCh38)
X:100170018 (GRCh37)
Canonical SPDI:: NC_000023.11:100915028:T:C
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100915029T>C, NC_000023.10:g.100170018T>C, NG_021224.1:g.18881A>G, NM_212559.3:c.659A>G, NM_212559.2:c.659A>G, XM_011530954.4:c.698A>G, XM_011530954.3:c.698A>G, XM_011530954.2:c.698A>G, XM_011530954.1:c.698A>G, XM_011530955.2:c.311A>G, XM_011530955.1:c.311A>G, XM_017029517.2:c.47A>G, XM_017029517.1:c.47A>G, NP_997724.2:p.Asn220Ser, XP_011529256.1:p.Asn233Ser, XP_011529257.1:p.Asn104Ser, XP_016885006.1:p.Asn16Ser

Select item 143307068712.

rs1433070687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:100914977 (GRCh38)
X:100169966 (GRCh37)
Canonical SPDI:: NC_000023.11:100914976:T:C
Gene:: XKRX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.100914977T>C, NC_000023.10:g.100169966T>C, NG_021224.1:g.18933A>G, NM_212559.3:c.711A>G, NM_212559.2:c.711A>G, XM_011530954.4:c.750A>G, XM_011530954.3:c.750A>G, XM_011530954.2:c.750A>G, XM_011530954.1:c.750A>G, XM_011530955.2:c.363A>G, XM_011530955.1:c.363A>G, XM_017029517.2:c.99A>G, XM_017029517.1:c.99A>G

Select item 143252292213.

rs1432522922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100928036 (GRCh38)
X:100183025 (GRCh37)
Canonical SPDI:: NC_000023.11:100928035:C:T
Gene:: XKRX (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.100928036C>T, NC_000023.10:g.100183025C>T, NG_021224.1:g.5874G>A, NM_212559.3:c.269G>A, NM_212559.2:c.269G>A, XM_011530954.4:c.308G>A, XM_011530954.3:c.308G>A, XM_011530954.2:c.308G>A, XM_011530954.1:c.308G>A, NP_997724.2:p.Arg90Lys, XP_011529256.1:p.Arg103Lys

Select item 142811123814.

rs1428111238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:100914659 (GRCh38)
X:100169648 (GRCh37)
Canonical SPDI:: NC_000023.11:100914658:C:A
Gene:: XKRX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.100914659C>A, NC_000023.10:g.100169648C>A, NG_021224.1:g.19251G>T, NM_212559.3:c.1029G>T, NM_212559.2:c.1029G>T, XM_011530954.4:c.1068G>T, XM_011530954.3:c.1068G>T, XM_011530954.2:c.1068G>T, XM_011530954.1:c.1068G>T, XM_011530955.2:c.681G>T, XM_011530955.1:c.681G>T, XM_017029517.2:c.417G>T, XM_017029517.1:c.417G>T

Select item 142702699315.

rs1427026993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:100914563 (GRCh38)
X:100169552 (GRCh37)
Canonical SPDI:: NC_000023.11:100914562:T:G
Gene:: XKRX (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914563T>G, NC_000023.10:g.100169552T>G, NG_021224.1:g.19347A>C, NM_212559.3:c.1125A>C, NM_212559.2:c.1125A>C, XM_011530955.2:c.777A>C, XM_011530955.1:c.777A>C, XM_017029517.2:c.513A>C, XM_017029517.1:c.513A>C, NP_997724.2:p.Leu375Phe, XP_011529257.1:p.Leu259Phe, XP_016885006.1:p.Leu171Phe

Select item 141667444616.

rs1416674446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100914948 (GRCh38)
X:100169937 (GRCh37)
Canonical SPDI:: NC_000023.11:100914947:C:T
Gene:: XKRX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.100914948C>T, NC_000023.10:g.100169937C>T, NG_021224.1:g.18962G>A, NM_212559.3:c.740G>A, NM_212559.2:c.740G>A, XM_011530954.4:c.779G>A, XM_011530954.3:c.779G>A, XM_011530954.2:c.779G>A, XM_011530954.1:c.779G>A, XM_011530955.2:c.392G>A, XM_011530955.1:c.392G>A, XM_017029517.2:c.128G>A, XM_017029517.1:c.128G>A, NP_997724.2:p.Arg247Gln, XP_011529256.1:p.Arg260Gln, XP_011529257.1:p.Arg131Gln, XP_016885006.1:p.Arg43Gln

Select item 141463462217.

rs1414634622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:100914934 (GRCh38)
X:100169923 (GRCh37)
Canonical SPDI:: NC_000023.11:100914933:T:G
Gene:: XKRX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914934T>G, NC_000023.10:g.100169923T>G, NG_021224.1:g.18976A>C, NM_212559.3:c.754A>C, NM_212559.2:c.754A>C, XM_011530954.4:c.793A>C, XM_011530954.3:c.793A>C, XM_011530954.2:c.793A>C, XM_011530954.1:c.793A>C, XM_011530955.2:c.406A>C, XM_011530955.1:c.406A>C, XM_017029517.2:c.142A>C, XM_017029517.1:c.142A>C, NP_997724.2:p.Thr252Pro, XP_011529256.1:p.Thr265Pro, XP_011529257.1:p.Thr136Pro, XP_016885006.1:p.Thr48Pro

Select item 140520215618.

rs1405202156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100914617 (GRCh38)
X:100169606 (GRCh37)
Canonical SPDI:: NC_000023.11:100914616:C:T
Gene:: XKRX (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914617C>T, NC_000023.10:g.100169606C>T, NG_021224.1:g.19293G>A, NM_212559.3:c.1071G>A, NM_212559.2:c.1071G>A, XM_011530955.2:c.723G>A, XM_011530955.1:c.723G>A, XM_017029517.2:c.459G>A, XM_017029517.1:c.459G>A

Select item 140364669219.

rs1403646692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:100914379 (GRCh38)
X:100169368 (GRCh37)
Canonical SPDI:: NC_000023.11:100914378:C:T
Gene:: XKRX (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.100914379C>T, NC_000023.10:g.100169368C>T, NG_021224.1:g.19531G>A, NM_212559.3:c.1309G>A, NM_212559.2:c.1309G>A, XM_011530955.2:c.961G>A, XM_011530955.1:c.961G>A, XM_017029517.2:c.697G>A, XM_017029517.1:c.697G>A, NP_997724.2:p.Glu437Lys, XP_011529257.1:p.Glu321Lys, XP_016885006.1:p.Glu233Lys

Select item 139729980020.

rs1397299800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:100914956 (GRCh38)
X:100169945 (GRCh37)
Canonical SPDI:: NC_000023.11:100914955:G:A
Gene:: XKRX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.100914956G>A, NC_000023.10:g.100169945G>A, NG_021224.1:g.18954C>T, NM_212559.3:c.732C>T, NM_212559.2:c.732C>T, XM_011530954.4:c.771C>T, XM_011530954.3:c.771C>T, XM_011530954.2:c.771C>T, XM_011530954.1:c.771C>T, XM_011530955.2:c.384C>T, XM_011530955.1:c.384C>T, XM_017029517.2:c.120C>T, XM_017029517.1:c.120C>T

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