SNP Links for Protein (Select 217330610) - SNP

Links from Protein

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Select item 14824876361.

rs1482487636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:81087968 (GRCh38)
14:81554312 (GRCh37)
Canonical SPDI:: NC_000014.9:81087967:C:A,NC_000014.9:81087967:C:T
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.81087968C>A, NC_000014.9:g.81087968C>T, NC_000014.8:g.81554312C>A, NC_000014.8:g.81554312C>T, NG_009206.1:g.137444C>A, NG_009206.1:g.137444C>T, NM_000369.5:c.332C>A, NM_000369.5:c.332C>T, NM_000369.4:c.332C>A, NM_000369.4:c.332C>T, NM_000369.3:c.332C>A, NM_000369.3:c.332C>T, NM_000369.2:c.332C>A, NM_000369.2:c.332C>T, NM_001142626.3:c.332C>A, NM_001142626.3:c.332C>T, NM_001142626.2:c.332C>A, NM_001142626.2:c.332C>T, NM_001018036.3:c.332C>A, NM_001018036.3:c.332C>T, NM_001018036.2:c.332C>A, NM_001018036.2:c.332C>T, XM_011537119.3:c.53C>A, XM_011537119.3:c.53C>T, XM_011537119.2:c.53C>A, XM_011537119.2:c.53C>T, XM_011537119.1:c.53C>A, XM_011537119.1:c.53C>T, XR_007064289.1:n.13993G>T, XR_007064289.1:n.13993G>A, XR_007064291.1:n.13702G>T, XR_007064291.1:n.13702G>A, XR_007064286.1:n.13624G>T, XR_007064286.1:n.13624G>A, XR_007064287.1:n.12797G>T, XR_007064287.1:n.12797G>A, XR_007064288.1:n.12755G>T, XR_007064288.1:n.12755G>A, NP_000360.2:p.Thr111Asn, NP_000360.2:p.Thr111Ile, NP_001136098.1:p.Thr111Asn, NP_001136098.1:p.Thr111Ile, NP_001018046.1:p.Thr111Asn, NP_001018046.1:p.Thr111Ile, XP_011535421.1:p.Thr18Asn, XP_011535421.1:p.Thr18Ile

Select item 14824136562.

rs1482413656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:81108578 (GRCh38)
14:81574922 (GRCh37)
Canonical SPDI:: NC_000014.9:81108577:G:C
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.81108578G>C, NC_000014.8:g.81574922G>C, NG_009206.1:g.158054G>C, NM_001142626.3:c.722G>C, NM_001142626.2:c.722G>C, NP_001136098.1:p.Gly241Ala

Select item 14776263893.

rs1477626389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:81108583 (GRCh38)
14:81574927 (GRCh37)
Canonical SPDI:: NC_000014.9:81108582:T:C
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81108583T>C, NC_000014.8:g.81574927T>C, NG_009206.1:g.158059T>C, NM_001142626.3:c.727T>C, NM_001142626.2:c.727T>C, NP_001136098.1:p.Cys243Arg

Select item 14730745984.

rs1473074598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:81091088 (GRCh38)
14:81557432 (GRCh37)
Canonical SPDI:: NC_000014.9:81091087:C:T
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.81091088C>T, NC_000014.8:g.81557432C>T, NG_009206.1:g.140564C>T, NM_000369.5:c.412C>T, NM_000369.4:c.412C>T, NM_000369.3:c.412C>T, NM_000369.2:c.412C>T, NM_001142626.3:c.412C>T, NM_001142626.2:c.412C>T, NM_001018036.3:c.412C>T, NM_001018036.2:c.412C>T, XM_011537119.3:c.133C>T, XM_011537119.2:c.133C>T, XM_011537119.1:c.133C>T, XR_007064289.1:n.10873G>A, XR_007064291.1:n.10582G>A, XR_007064286.1:n.10504G>A, XR_007064287.1:n.9677G>A, XR_007064288.1:n.9635G>A, NP_000360.2:p.Leu138Phe, NP_001136098.1:p.Leu138Phe, NP_001018046.1:p.Leu138Phe, XP_011535421.1:p.Leu45Phe

Select item 14724925965.

rs1472492596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:81108420 (GRCh38)
14:81574764 (GRCh37)
Canonical SPDI:: NC_000014.9:81108419:A:C
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.81108420A>C, NC_000014.8:g.81574764A>C, NG_009206.1:g.157896A>C, NM_000369.5:c.660A>C, NM_000369.4:c.660A>C, NM_000369.3:c.660A>C, NM_000369.2:c.660A>C, NM_001142626.3:c.660A>C, NM_001142626.2:c.660A>C, NM_001018036.3:c.660A>C, NM_001018036.2:c.660A>C, XM_011537119.3:c.381A>C, XM_011537119.2:c.381A>C, XM_011537119.1:c.381A>C

Select item 14709560736.

rs1470956073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:80955729 (GRCh38)
14:81422073 (GRCh37)
Canonical SPDI:: NC_000014.9:80955728:A:G
Gene:: TSHR (Varview), CEP128 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.80955729A>G, NC_000014.8:g.81422073A>G, NG_009206.1:g.5205A>G, NM_000369.5:c.49A>G, NM_000369.4:c.49A>G, NM_000369.3:c.49A>G, NM_000369.2:c.49A>G, NM_001142626.3:c.49A>G, NM_001142626.2:c.49A>G, NM_001018036.3:c.49A>G, NM_001018036.2:c.49A>G, NP_000360.2:p.Arg17Gly, NP_001136098.1:p.Arg17Gly, NP_001018046.1:p.Arg17Gly

Select item 14692736117.

rs1469273611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:81092575 (GRCh38)
14:81558919 (GRCh37)
Canonical SPDI:: NC_000014.9:81092574:C:T
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.81092575C>T, NC_000014.8:g.81558919C>T, NG_009206.1:g.142051C>T, NM_000369.5:c.512C>T, NM_000369.4:c.512C>T, NM_000369.3:c.512C>T, NM_000369.2:c.512C>T, NM_001142626.3:c.512C>T, NM_001142626.2:c.512C>T, NM_001018036.3:c.512C>T, NM_001018036.2:c.512C>T, XM_011537119.3:c.233C>T, XM_011537119.2:c.233C>T, XM_011537119.1:c.233C>T, XR_007064289.1:n.9386G>A, XR_007064291.1:n.9095G>A, XR_007064286.1:n.9017G>A, XR_007064287.1:n.8190G>A, XR_007064288.1:n.8148G>A, NP_000360.2:p.Ala171Val, NP_001136098.1:p.Ala171Val, NP_001018046.1:p.Ala171Val, XP_011535421.1:p.Ala78Val

Select item 14628766788.

rs1462876678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:81087975 (GRCh38)
14:81554319 (GRCh37)
Canonical SPDI:: NC_000014.9:81087974:C:A
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81087975C>A, NC_000014.8:g.81554319C>A, NG_009206.1:g.137451C>A, NM_000369.5:c.339C>A, NM_000369.4:c.339C>A, NM_000369.3:c.339C>A, NM_000369.2:c.339C>A, NM_001142626.3:c.339C>A, NM_001142626.2:c.339C>A, NM_001018036.3:c.339C>A, NM_001018036.2:c.339C>A, XM_011537119.3:c.60C>A, XM_011537119.2:c.60C>A, XM_011537119.1:c.60C>A, XR_007064289.1:n.13986G>T, XR_007064291.1:n.13695G>T, XR_007064286.1:n.13617G>T, XR_007064287.1:n.12790G>T, XR_007064288.1:n.12748G>T, NP_000360.2:p.Asn113Lys, NP_001136098.1:p.Asn113Lys, NP_001018046.1:p.Asn113Lys, XP_011535421.1:p.Asn20Lys

Select item 14604091819.

rs1460409181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:80955690 (GRCh38)
14:81422034 (GRCh37)
Canonical SPDI:: NC_000014.9:80955689:G:A,NC_000014.9:80955689:G:T
Gene:: TSHR (Varview), CEP128 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.80955690G>A, NC_000014.9:g.80955690G>T, NC_000014.8:g.81422034G>A, NC_000014.8:g.81422034G>T, NG_009206.1:g.5166G>A, NG_009206.1:g.5166G>T, NM_000369.5:c.10G>A, NM_000369.5:c.10G>T, NM_000369.4:c.10G>A, NM_000369.4:c.10G>T, NM_000369.3:c.10G>A, NM_000369.3:c.10G>T, NM_000369.2:c.10G>A, NM_000369.2:c.10G>T, NM_001142626.3:c.10G>A, NM_001142626.3:c.10G>T, NM_001142626.2:c.10G>A, NM_001142626.2:c.10G>T, NM_001018036.3:c.10G>A, NM_001018036.3:c.10G>T, NM_001018036.2:c.10G>A, NM_001018036.2:c.10G>T, NP_000360.2:p.Ala4Thr, NP_000360.2:p.Ala4Ser, NP_001136098.1:p.Ala4Thr, NP_001136098.1:p.Ala4Ser, NP_001018046.1:p.Ala4Thr, NP_001018046.1:p.Ala4Ser

Select item 145758061710.

rs1457580617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:81062188 (GRCh38)
14:81528532 (GRCh37)
Canonical SPDI:: NC_000014.9:81062187:G:A
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.81062188G>A, NC_000014.8:g.81528532G>A, NG_009206.1:g.111664G>A, NM_000369.5:c.211G>A, NM_000369.4:c.211G>A, NM_000369.3:c.211G>A, NM_000369.2:c.211G>A, NM_001142626.3:c.211G>A, NM_001142626.2:c.211G>A, NM_001018036.3:c.211G>A, NM_001018036.2:c.211G>A, NP_000360.2:p.Ala71Thr, NP_001136098.1:p.Ala71Thr, NP_001018046.1:p.Ala71Thr

Select item 145498593811.

rs1454985938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:81096669 (GRCh38)
14:81563013 (GRCh37)
Canonical SPDI:: NC_000014.9:81096668:C:A
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.81096669C>A, NC_000014.8:g.81563013C>A, NG_009206.1:g.146145C>A, NM_000369.5:c.576C>A, NM_000369.4:c.576C>A, NM_000369.3:c.576C>A, NM_000369.2:c.576C>A, NM_001142626.3:c.576C>A, NM_001142626.2:c.576C>A, NM_001018036.3:c.576C>A, NM_001018036.2:c.576C>A, XM_011537119.3:c.297C>A, XM_011537119.2:c.297C>A, XM_011537119.1:c.297C>A

Select item 144999331312.

rs1449993313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:81088014 (GRCh38)
14:81554358 (GRCh37)
Canonical SPDI:: NC_000014.9:81088013:C:T
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.81088014C>T, NC_000014.8:g.81554358C>T, NG_009206.1:g.137490C>T, NM_000369.5:c.378C>T, NM_000369.4:c.378C>T, NM_000369.3:c.378C>T, NM_000369.2:c.378C>T, NM_001142626.3:c.378C>T, NM_001142626.2:c.378C>T, NM_001018036.3:c.378C>T, NM_001018036.2:c.378C>T, XM_011537119.3:c.99C>T, XM_011537119.2:c.99C>T, XM_011537119.1:c.99C>T, XR_007064289.1:n.13947G>A, XR_007064291.1:n.13656G>A, XR_007064286.1:n.13578G>A, XR_007064287.1:n.12751G>A, XR_007064288.1:n.12709G>A

Select item 144807962513.

rs1448079625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:81092581 (GRCh38)
14:81558925 (GRCh37)
Canonical SPDI:: NC_000014.9:81092580:A:T
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.81092581A>T, NC_000014.8:g.81558925A>T, NG_009206.1:g.142057A>T, NM_000369.5:c.518A>T, NM_000369.4:c.518A>T, NM_000369.3:c.518A>T, NM_000369.2:c.518A>T, NM_001142626.3:c.518A>T, NM_001142626.2:c.518A>T, NM_001018036.3:c.518A>T, NM_001018036.2:c.518A>T, XM_011537119.3:c.239A>T, XM_011537119.2:c.239A>T, XM_011537119.1:c.239A>T, XR_007064289.1:n.9380T>A, XR_007064291.1:n.9089T>A, XR_007064286.1:n.9011T>A, XR_007064287.1:n.8184T>A, XR_007064288.1:n.8142T>A, NP_000360.2:p.Gln173Leu, NP_001136098.1:p.Gln173Leu, NP_001018046.1:p.Gln173Leu, XP_011535421.1:p.Gln80Leu

Select item 144348473614.

rs1443484736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:81108626 (GRCh38)
14:81574970 (GRCh37)
Canonical SPDI:: NC_000014.9:81108625:G:A,NC_000014.9:81108625:G:C
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.81108626G>A, NC_000014.9:g.81108626G>C, NC_000014.8:g.81574970G>A, NC_000014.8:g.81574970G>C, NG_009206.1:g.158102G>A, NG_009206.1:g.158102G>C, NM_001142626.3:c.770G>A, NM_001142626.3:c.770G>C, NM_001142626.2:c.770G>A, NM_001142626.2:c.770G>C, NM_001018036.3:c.707G>A, NM_001018036.3:c.707G>C, NM_001018036.2:c.707G>A, NM_001018036.2:c.707G>C, NP_001136098.1:p.Arg257Lys, NP_001136098.1:p.Arg257Thr, NP_001018046.1:p.Arg236Lys, NP_001018046.1:p.Arg236Thr

Select item 144323349515.

rs1443233495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:81108435 (GRCh38)
14:81574779 (GRCh37)
Canonical SPDI:: NC_000014.9:81108434:C:T
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000014.9:g.81108435C>T, NC_000014.8:g.81574779C>T, NG_009206.1:g.157911C>T, NM_000369.5:c.675C>T, NM_000369.4:c.675C>T, NM_000369.3:c.675C>T, NM_000369.2:c.675C>T, NM_001142626.3:c.675C>T, NM_001142626.2:c.675C>T, NM_001018036.3:c.675C>T, NM_001018036.2:c.675C>T, XM_011537119.3:c.396C>T, XM_011537119.2:c.396C>T, XM_011537119.1:c.396C>T

Select item 143929059716.

rs1439290597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:81091129 (GRCh38)
14:81557473 (GRCh37)
Canonical SPDI:: NC_000014.9:81091128:T:A
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.81091129T>A, NC_000014.8:g.81557473T>A, NG_009206.1:g.140605T>A, NM_000369.5:c.453T>A, NM_000369.4:c.453T>A, NM_000369.3:c.453T>A, NM_000369.2:c.453T>A, NM_001142626.3:c.453T>A, NM_001142626.2:c.453T>A, NM_001018036.3:c.453T>A, NM_001018036.2:c.453T>A, XM_011537119.3:c.174T>A, XM_011537119.2:c.174T>A, XM_011537119.1:c.174T>A, XR_007064289.1:n.10832A>T, XR_007064291.1:n.10541A>T, XR_007064286.1:n.10463A>T, XR_007064287.1:n.9636A>T, XR_007064288.1:n.9594A>T, NP_000360.2:p.Asp151Glu, NP_001136098.1:p.Asp151Glu, NP_001018046.1:p.Asp151Glu, XP_011535421.1:p.Asp58Glu

Select item 143870721417.

rs1438707214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:80955810 (GRCh38)
14:81422154 (GRCh37)
Canonical SPDI:: NC_000014.9:80955809:A:G
Gene:: TSHR (Varview), CEP128 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.80955810A>G, NC_000014.8:g.81422154A>G, NG_009206.1:g.5286A>G, NM_000369.5:c.130A>G, NM_000369.4:c.130A>G, NM_000369.3:c.130A>G, NM_000369.2:c.130A>G, NM_001142626.3:c.130A>G, NM_001142626.2:c.130A>G, NM_001018036.3:c.130A>G, NM_001018036.2:c.130A>G, NP_000360.2:p.Ile44Val, NP_001136098.1:p.Ile44Val, NP_001018046.1:p.Ile44Val

Select item 143107302318.

rs1431073023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:81096686 (GRCh38)
14:81563030 (GRCh37)
Canonical SPDI:: NC_000014.9:81096685:A:G
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.81096686A>G, NC_000014.8:g.81563030A>G, NG_009206.1:g.146162A>G, NM_000369.5:c.593A>G, NM_000369.4:c.593A>G, NM_000369.3:c.593A>G, NM_000369.2:c.593A>G, NM_001142626.3:c.593A>G, NM_001142626.2:c.593A>G, NM_001018036.3:c.593A>G, NM_001018036.2:c.593A>G, XM_011537119.3:c.314A>G, XM_011537119.2:c.314A>G, XM_011537119.1:c.314A>G, NP_000360.2:p.Asn198Ser, NP_001136098.1:p.Asn198Ser, NP_001018046.1:p.Asn198Ser, XP_011535421.1:p.Asn105Ser

Select item 143072240419.

rs1430722404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:81096671 (GRCh38)
14:81563015 (GRCh37)
Canonical SPDI:: NC_000014.9:81096670:A:G
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.81096671A>G, NC_000014.8:g.81563015A>G, NG_009206.1:g.146147A>G, NM_000369.5:c.578A>G, NM_000369.4:c.578A>G, NM_000369.3:c.578A>G, NM_000369.2:c.578A>G, NM_001142626.3:c.578A>G, NM_001142626.2:c.578A>G, NM_001018036.3:c.578A>G, NM_001018036.2:c.578A>G, XM_011537119.3:c.299A>G, XM_011537119.2:c.299A>G, XM_011537119.1:c.299A>G, NP_000360.2:p.Gln193Arg, NP_001136098.1:p.Gln193Arg, NP_001018046.1:p.Gln193Arg, XP_011535421.1:p.Gln100Arg

Select item 142780922220.

rs1427809222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:81096702 (GRCh38)
14:81563046 (GRCh37)
Canonical SPDI:: NC_000014.9:81096701:T:C
Gene:: TSHR (Varview), LOC101928462 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.81096702T>C, NC_000014.8:g.81563046T>C, NG_009206.1:g.146178T>C, NM_000369.5:c.609T>C, NM_000369.4:c.609T>C, NM_000369.3:c.609T>C, NM_000369.2:c.609T>C, NM_001142626.3:c.609T>C, NM_001142626.2:c.609T>C, NM_001018036.3:c.609T>C, NM_001018036.2:c.609T>C, XM_011537119.3:c.330T>C, XM_011537119.2:c.330T>C, XM_011537119.1:c.330T>C

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