SNP Links for Protein (Select 11056036) - SNP

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Links from Protein

Items: 1 to 20 of 852

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Select item 14903116101.

rs1490311610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43179913 (GRCh38)
22:43575919 (GRCh37)
Canonical SPDI:: NC_000022.11:43179912:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43179913C>T, NC_000022.10:g.43575919C>T, NM_015140.4:c.634G>A, NM_015140.3:c.634G>A, NP_055955.1:p.Ala212Thr

Select item 14900042682.

rs1490004268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:43186935 (GRCh38)
22:43582941 (GRCh37)
Canonical SPDI:: NC_000022.11:43186934:G:A,NC_000022.11:43186934:G:C
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43186935G>A, NC_000022.11:g.43186935G>C, NC_000022.10:g.43582941G>A, NC_000022.10:g.43582941G>C, NM_015140.4:c.135C>T, NM_015140.4:c.135C>G, NM_015140.3:c.135C>T, NM_015140.3:c.135C>G

Select item 14898193413.

rs1489819341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:43180767 (GRCh38)
22:43576773 (GRCh37)
Canonical SPDI:: NC_000022.11:43180766:T:C
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43180767T>C, NC_000022.10:g.43576773T>C, NM_015140.4:c.521A>G, NM_015140.3:c.521A>G, NP_055955.1:p.Asn174Ser

Select item 14845156474.

rs1484515647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:43174344 (GRCh38)
22:43570350 (GRCh37)
Canonical SPDI:: NC_000022.11:43174343:A:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43174344A>T, NC_000022.10:g.43570350A>T, NM_015140.4:c.1094T>A, NM_015140.3:c.1094T>A, NP_055955.1:p.Leu365Gln

Select item 14774578805.

rs1477457880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43168805 (GRCh38)
22:43564811 (GRCh37)
Canonical SPDI:: NC_000022.11:43168804:G:A
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43168805G>A, NC_000022.10:g.43564811G>A, NM_015140.4:c.1752C>T, NM_015140.3:c.1752C>T

Select item 14770532676.

rs1477053267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43174302 (GRCh38)
22:43570308 (GRCh37)
Canonical SPDI:: NC_000022.11:43174301:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.43174302C>T, NC_000022.10:g.43570308C>T, NM_015140.4:c.1136G>A, NM_015140.3:c.1136G>A, NP_055955.1:p.Gly379Asp

Select item 14753902667.

rs1475390266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:43187044 (GRCh38)
22:43583050 (GRCh37)
Canonical SPDI:: NC_000022.11:43187043:C:A,NC_000022.11:43187043:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.43187044C>A, NC_000022.11:g.43187044C>T, NC_000022.10:g.43583050C>A, NC_000022.10:g.43583050C>T, NM_015140.4:c.26G>T, NM_015140.4:c.26G>A, NM_015140.3:c.26G>T, NM_015140.3:c.26G>A, NP_055955.1:p.Arg9Leu, NP_055955.1:p.Arg9His

Select item 14753848138.

rs1475384813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:43171872 (GRCh38)
22:43567878 (GRCh37)
Canonical SPDI:: NC_000022.11:43171871:A:G,NC_000022.11:43171871:A:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43171872A>G, NC_000022.11:g.43171872A>T, NC_000022.10:g.43567878A>G, NC_000022.10:g.43567878A>T, NM_015140.4:c.1522T>C, NM_015140.4:c.1522T>A, NM_015140.3:c.1522T>C, NM_015140.3:c.1522T>A, NP_055955.1:p.Tyr508His, NP_055955.1:p.Tyr508Asn

Select item 14745411049.

rs1474541104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:43168866 (GRCh38)
22:43564872 (GRCh37)
Canonical SPDI:: NC_000022.11:43168865:G:C
Gene:: TTLL12 (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=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.43168866G>C, NC_000022.10:g.43564872G>C, NM_015140.4:c.1691C>G, NM_015140.3:c.1691C>G, NP_055955.1:p.Ala564Gly

Select item 147255142410.

rs1472551424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:43172435 (GRCh38)
22:43568441 (GRCh37)
Canonical SPDI:: NC_000022.11:43172434:C:A
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43172435C>A, NC_000022.10:g.43568441C>A, NM_015140.4:c.1461G>T, NM_015140.3:c.1461G>T

Select item 147199779111.

rs1471997791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:43180853 (GRCh38)
22:43576859 (GRCh37)
Canonical SPDI:: NC_000022.11:43180852:C:G,NC_000022.11:43180852:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.43180853C>G, NC_000022.11:g.43180853C>T, NC_000022.10:g.43576859C>G, NC_000022.10:g.43576859C>T, NM_015140.4:c.435G>C, NM_015140.4:c.435G>A, NM_015140.3:c.435G>C, NM_015140.3:c.435G>A, NP_055955.1:p.Met145Ile, NP_055955.1:p.Met145Ile

Select item 147140793812.

rs1471407938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:43180899 (GRCh38)
22:43576905 (GRCh37)
Canonical SPDI:: NC_000022.11:43180898:T:C
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43180899T>C, NC_000022.10:g.43576905T>C, NM_015140.4:c.389A>G, NM_015140.3:c.389A>G, NP_055955.1:p.His130Arg

Select item 147000207713.

rs1470002077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:43168834 (GRCh38)
22:43564840 (GRCh37)
Canonical SPDI:: NC_000022.11:43168833:G:A,NC_000022.11:43168833:G:T
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.43168834G>A, NC_000022.11:g.43168834G>T, NC_000022.10:g.43564840G>A, NC_000022.10:g.43564840G>T, NM_015140.4:c.1723C>T, NM_015140.4:c.1723C>A, NM_015140.3:c.1723C>T, NM_015140.3:c.1723C>A, NP_055955.1:p.Pro575Ser, NP_055955.1:p.Pro575Thr

Select item 146937797814.

rs1469377978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43172446 (GRCh38)
22:43568452 (GRCh37)
Canonical SPDI:: NC_000022.11:43172445:G:A
Gene:: TTLL12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/9 (GnomAD_exomes)
A=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.43172446G>A, NC_000022.10:g.43568452G>A, NM_015140.4:c.1450C>T, NM_015140.3:c.1450C>T, NP_055955.1:p.Arg484Trp

Select item 146456594515.

rs1464565945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:43174215 (GRCh38)
22:43570221 (GRCh37)
Canonical SPDI:: NC_000022.11:43174214:T:C
Gene:: TTLL12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.43174215T>C, NC_000022.10:g.43570221T>C, NM_015140.4:c.1223A>G, NM_015140.3:c.1223A>G, NP_055955.1:p.Glu408Gly

Select item 146439733116.

rs1464397331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43172462 (GRCh38)
22:43568468 (GRCh37)
Canonical SPDI:: NC_000022.11:43172461:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.43172462C>T, NC_000022.10:g.43568468C>T, NM_015140.4:c.1434G>A, NM_015140.3:c.1434G>A

Select item 146354852017.

rs1463548520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43174600 (GRCh38)
22:43570606 (GRCh37)
Canonical SPDI:: NC_000022.11:43174599:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43174600C>T, NC_000022.10:g.43570606C>T, NM_015140.4:c.933G>A, NM_015140.3:c.933G>A

Select item 146321599218.

rs1463215992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:43174243 (GRCh38)
22:43570249 (GRCh37)
Canonical SPDI:: NC_000022.11:43174242:G:A,NC_000022.11:43174242:G:T
Gene:: TTLL12 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43174243G>A, NC_000022.11:g.43174243G>T, NC_000022.10:g.43570249G>A, NC_000022.10:g.43570249G>T, NM_015140.4:c.1195C>T, NM_015140.4:c.1195C>A, NM_015140.3:c.1195C>T, NM_015140.3:c.1195C>A, NP_055955.1:p.Gln399Ter, NP_055955.1:p.Gln399Lys

Select item 146176991419.

rs1461769914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43171825 (GRCh38)
22:43567831 (GRCh37)
Canonical SPDI:: NC_000022.11:43171824:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43171825C>T, NC_000022.10:g.43567831C>T, NM_015140.4:c.1569G>A, NM_015140.3:c.1569G>A

Select item 145419598520.

rs1454195985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43179931 (GRCh38)
22:43575937 (GRCh37)
Canonical SPDI:: NC_000022.11:43179930:C:T
Gene:: TTLL12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.43179931C>T, NC_000022.10:g.43575937C>T, NM_015140.4:c.616G>A, NM_015140.3:c.616G>A, NP_055955.1:p.Val206Met

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