SNP Links for Protein (Select 7657015) - SNP

Links from Protein

Items: 1 to 20 of 465

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Select item 14883887001.

rs1488388700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:32396181 (GRCh38)
22:32792168 (GRCh37)
Canonical SPDI:: NC_000022.11:32396180:A:C,NC_000022.11:32396180:A:G
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.32396181A>C, NC_000022.11:g.32396181A>G, NC_000022.10:g.32792168A>C, NC_000022.10:g.32792168A>G, NM_014306.5:c.883T>G, NM_014306.5:c.883T>C, NM_014306.4:c.883T>G, NM_014306.4:c.883T>C, NP_055121.1:p.Cys295Gly, NP_055121.1:p.Cys295Arg

Select item 14845038312.

rs1484503831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:32408764 (GRCh38)
22:32804751 (GRCh37)
Canonical SPDI:: NC_000022.11:32408763:G:A,NC_000022.11:32408763:G:T
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32408764G>A, NC_000022.11:g.32408764G>T, NC_000022.10:g.32804751G>A, NC_000022.10:g.32804751G>T, NM_014306.5:c.163C>T, NM_014306.5:c.163C>A, NM_014306.4:c.163C>T, NM_014306.4:c.163C>A, NP_055121.1:p.Arg55Ter

Select item 14835212253.

rs1483521225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:32406717 (GRCh38)
22:32802704 (GRCh37)
Canonical SPDI:: NC_000022.11:32406716:A:G
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32406717A>G, NC_000022.10:g.32802704A>G, NM_014306.5:c.285T>C, NM_014306.4:c.285T>C

Select item 14817943294.

rs1481794329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32395058 (GRCh38)
22:32791045 (GRCh37)
Canonical SPDI:: NC_000022.11:32395057:G:A
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32395058G>A, NC_000022.10:g.32791045G>A, NM_014306.5:c.1147C>T, NM_014306.4:c.1147C>T, NP_055121.1:p.Pro383Ser

Select item 14771102525.

rs1477110252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32398060 (GRCh38)
22:32794047 (GRCh37)
Canonical SPDI:: NC_000022.11:32398059:T:C
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32398060T>C, NC_000022.10:g.32794047T>C, NM_014306.5:c.695A>G, NM_014306.4:c.695A>G, NP_055121.1:p.Gln232Arg

Select item 14762784696.

rs1476278469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:32412125 (GRCh38)
22:32808112 (GRCh37)
Canonical SPDI:: NC_000022.11:32412124:A:G
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32412125A>G, NC_000022.10:g.32808112A>G, NM_014306.5:c.32T>C, NM_014306.4:c.32T>C, NP_055121.1:p.Phe11Ser

Select item 14733838117.

rs1473383811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32395134 (GRCh38)
22:32791121 (GRCh37)
Canonical SPDI:: NC_000022.11:32395133:T:C
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32395134T>C, NC_000022.10:g.32791121T>C, NM_014306.5:c.1071A>G, NM_014306.4:c.1071A>G

Select item 14697422528.

rs1469742252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32406732 (GRCh38)
22:32802719 (GRCh37)
Canonical SPDI:: NC_000022.11:32406731:T:C
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32406732T>C, NC_000022.10:g.32802719T>C, NM_014306.5:c.270A>G, NM_014306.4:c.270A>G

Select item 14689172499.

rs1468917249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:32401894 (GRCh38)
22:32797881 (GRCh37)
Canonical SPDI:: NC_000022.11:32401893:C:A
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32401894C>A, NC_000022.10:g.32797881C>A, NM_014306.5:c.350G>T, NM_014306.4:c.350G>T, NP_055121.1:p.Gly117Val

Select item 146774756310.

rs1467747563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32396132 (GRCh38)
22:32792119 (GRCh37)
Canonical SPDI:: NC_000022.11:32396131:G:A
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32396132G>A, NC_000022.10:g.32792119G>A, NM_014306.5:c.932C>T, NM_014306.4:c.932C>T, NP_055121.1:p.Ala311Val

Select item 146668327611.

rs1466683276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:32395034 (GRCh38)
22:32791021 (GRCh37)
Canonical SPDI:: NC_000022.11:32395033:C:T
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.32395034C>T, NC_000022.10:g.32791021C>T, NM_014306.5:c.1171G>A, NM_014306.4:c.1171G>A, NP_055121.1:p.Asp391Asn

Select item 146614962712.

rs1466149627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:32395155 (GRCh38)
22:32791142 (GRCh37)
Canonical SPDI:: NC_000022.11:32395154:A:C
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32395155A>C, NC_000022.10:g.32791142A>C, NM_014306.5:c.1050T>G, NM_014306.4:c.1050T>G, NP_055121.1:p.Asp350Glu

Select item 146319280313.

rs1463192803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32396224 (GRCh38)
22:32792211 (GRCh37)
Canonical SPDI:: NC_000022.11:32396223:G:A
Gene:: RTCB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32396224G>A, NC_000022.10:g.32792211G>A, NM_014306.5:c.840C>T, NM_014306.4:c.840C>T

Select item 145914058214.

rs1459140582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:32395087 (GRCh38)
22:32791074 (GRCh37)
Canonical SPDI:: NC_000022.11:32395086:T:C,NC_000022.11:32395086:T:G
Gene:: RTCB (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)
HGVS:: NC_000022.11:g.32395087T>C, NC_000022.11:g.32395087T>G, NC_000022.10:g.32791074T>C, NC_000022.10:g.32791074T>G, NM_014306.5:c.1118A>G, NM_014306.5:c.1118A>C, NM_014306.4:c.1118A>G, NM_014306.4:c.1118A>C, NP_055121.1:p.His373Arg, NP_055121.1:p.His373Pro

Select item 145656852415.

rs1456568524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32408216 (GRCh38)
22:32804203 (GRCh37)
Canonical SPDI:: NC_000022.11:32408215:T:C
Gene:: RTCB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32408216T>C, NC_000022.10:g.32804203T>C, NM_014306.5:c.199A>G, NM_014306.4:c.199A>G, NP_055121.1:p.Lys67Glu

Select item 145461893916.

rs1454618939 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 22:32408791 (GRCh38)
22:32804778 (GRCh37)
Canonical SPDI:: NC_000022.11:32408790:TC:
Gene:: RTCB (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32408791_32408792del, NC_000022.10:g.32804778_32804779del, NM_014306.5:c.135_136del, NM_014306.4:c.135_136del, NP_055121.1:p.Leu45fs

Select item 144917511917.

rs1449175119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:32408207 (GRCh38)
22:32804194 (GRCh37)
Canonical SPDI:: NC_000022.11:32408206:C:T
Gene:: RTCB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32408207C>T, NC_000022.10:g.32804194C>T, NM_014306.5:c.208G>A, NM_014306.4:c.208G>A, NP_055121.1:p.Gly70Ser

Select item 144104894718.

rs1441048947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:32406670 (GRCh38)
22:32802657 (GRCh37)
Canonical SPDI:: NC_000022.11:32406669:A:G
Gene:: RTCB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32406670A>G, NC_000022.10:g.32802657A>G, NM_014306.5:c.332T>C, NM_014306.4:c.332T>C, NP_055121.1:p.Val111Ala

Select item 144095291219.

rs1440952912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:32398019 (GRCh38)
22:32794006 (GRCh37)
Canonical SPDI:: NC_000022.11:32398018:T:A
Gene:: RTCB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32398019T>A, NC_000022.10:g.32794006T>A, NM_014306.5:c.736A>T, NM_014306.4:c.736A>T, NP_055121.1:p.Met246Leu

Select item 144093053320.

rs1440930533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:32406758 (GRCh38)
22:32802745 (GRCh37)
Canonical SPDI:: NC_000022.11:32406757:A:T
Gene:: RTCB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.32406758A>T, NC_000022.10:g.32802745A>T, NM_014306.5:c.244T>A, NM_014306.4:c.244T>A, NP_055121.1:p.Ser82Thr

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