SNP Links for Protein (Select 188528648) - SNP

Select item 14906250561.

rs1490625056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:32045283 (GRCh38)
6:32013060 (GRCh37)
Canonical SPDI:: NC_000006.12:32045282:G:A,NC_000006.12:32045282:G:T
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32045283G>A, NC_000006.12:g.32045283G>T, NC_000006.11:g.32013060G>A, NC_000006.11:g.32013060G>T, NG_008337.2:g.69092C>T, NG_008337.2:g.69092C>A, NM_019105.8:c.10644C>T, NM_019105.8:c.10644C>A, NM_019105.7:c.10644C>T, NM_019105.7:c.10644C>A, NM_019105.6:c.10644C>T, NM_019105.6:c.10644C>A, NM_032470.4:c.-64C>T, NM_032470.4:c.-64C>A, NM_032470.3:c.-64C>T, NM_032470.3:c.-64C>A, NM_001365276.2:c.10650C>T, NM_001365276.2:c.10650C>A, NM_001365276.1:c.10650C>T, NM_001365276.1:c.10650C>A, NT_113891.3:g.3483605G>A, NT_113891.3:g.3483605G>T, NT_113891.2:g.3483711G>A, NT_113891.2:g.3483711G>T, NG_045227.1:g.3776G>A, NG_045227.1:g.3776G>T, NT_167247.2:g.3387316G>A, NT_167247.2:g.3387316G>T, NT_167247.1:g.3392901G>A, NT_167247.1:g.3392901G>T, NT_167245.2:g.3286692G>A, NT_167245.2:g.3286692G>T, NT_167245.1:g.3292277G>A, NT_167245.1:g.3292277G>T, NT_167248.2:g.3268518G>A, NT_167248.2:g.3268518G>T, NT_167248.1:g.3274114G>A, NT_167248.1:g.3274114G>T, NT_167249.2:g.3346470G>A, NT_167249.2:g.3346470G>T, NT_167249.1:g.3345768G>A, NT_167249.1:g.3345768G>T, NM_007116.1:c.-64C>T, NM_007116.1:c.-64C>A

Select item 14905694832.

rs1490569483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:32096535 (GRCh38)
6:32064312 (GRCh37)
Canonical SPDI:: NC_000006.12:32096534:T:G
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.32096535T>G, NC_000006.11:g.32064312T>G, NG_008337.2:g.17840A>C, NM_019105.8:c.1318A>C, NM_019105.7:c.1318A>C, NM_019105.6:c.1318A>C, NM_001365276.2:c.1318A>C, NM_001365276.1:c.1318A>C, NT_113891.3:g.3534868T>G, NT_113891.2:g.3534974T>G, NT_167247.2:g.3438561T>G, NT_167247.1:g.3444146T>G, NT_167245.2:g.3337922T>G, NT_167245.1:g.3343507T>G, NT_167246.2:g.3401535T>G, NT_167246.1:g.3407155T>G

Select item 14905614073.

rs1490561407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32096475 (GRCh38)
6:32064252 (GRCh37)
Canonical SPDI:: NC_000006.12:32096474:C:T
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000006.12:g.32096475C>T, NC_000006.11:g.32064252C>T, NG_008337.2:g.17900G>A, NM_019105.8:c.1378G>A, NM_019105.7:c.1378G>A, NM_019105.6:c.1378G>A, NM_001365276.2:c.1378G>A, NM_001365276.1:c.1378G>A, NT_113891.3:g.3534808C>T, NT_113891.2:g.3534914C>T, NT_167247.2:g.3438501C>T, NT_167247.1:g.3444086C>T, NT_167245.2:g.3337862C>T, NT_167245.1:g.3343447C>T, NT_167246.2:g.3401475C>T, NT_167246.1:g.3407095C>T, NP_061978.6:p.Asp460Asn, NP_001352205.1:p.Asp460Asn

Select item 14903437464.

rs1490343746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32056071 (GRCh38)
6:32023848 (GRCh37)
Canonical SPDI:: NC_000006.12:32056070:A:G
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32056071A>G, NC_000006.11:g.32023848A>G, NG_008337.2:g.58304T>C, NM_019105.8:c.8247T>C, NM_019105.7:c.8247T>C, NM_019105.6:c.8247T>C, NM_001365276.2:c.8247T>C, NM_001365276.1:c.8247T>C, NT_113891.3:g.3494393A>G, NT_113891.2:g.3494499A>G, NT_167247.2:g.3398104A>G, NT_167247.1:g.3403689A>G, NT_167245.2:g.3297481A>G, NT_167245.1:g.3303066A>G, NT_167248.2:g.3279306A>G, NT_167248.1:g.3284902A>G, NT_167249.2:g.3357258A>G, NT_167249.1:g.3356556A>G

Select item 14900815295.

rs1490081529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:32070376 (GRCh38)
6:32038153 (GRCh37)
Canonical SPDI:: NC_000006.12:32070375:G:C
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000006.12:g.32070376G>C, NC_000006.11:g.32038153G>C, NG_008337.2:g.43999C>G, NM_019105.8:c.5029C>G, NM_019105.7:c.5029C>G, NM_019105.6:c.5029C>G, NM_001365276.2:c.5029C>G, NM_001365276.1:c.5029C>G, NT_113891.3:g.3508715G>C, NT_113891.2:g.3508821G>C, NT_167247.2:g.3412422G>C, NT_167247.1:g.3418007G>C, NT_167245.2:g.3311781G>C, NT_167245.1:g.3317366G>C, NT_167248.2:g.3293594G>C, NT_167248.1:g.3299190G>C, NT_167246.2:g.3375370G>C, NT_167246.1:g.3380990G>C, NP_061978.6:p.Leu1677Val, NP_001352205.1:p.Leu1677Val

Select item 14899872386.

rs1489987238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32043468 (GRCh38)
6:32011245 (GRCh37)
Canonical SPDI:: NC_000006.12:32043467:G:A
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.32043468G>A, NC_000006.11:g.32011245G>A, NG_007941.3:g.10164G>A, NT_113891.3:g.3481790G>A, NT_113891.2:g.3481896G>A, NG_008337.2:g.70907C>T, NM_019105.8:c.11613C>T, NM_019105.7:c.11613C>T, NM_019105.6:c.11613C>T, NM_032470.4:c.906C>T, NM_032470.3:c.906C>T, NM_001365276.2:c.11619C>T, NM_001365276.1:c.11619C>T, NT_167247.2:g.3385501G>A, NT_167247.1:g.3391086G>A, NT_167245.2:g.3284877G>A, NT_167245.1:g.3290462G>A, NG_045227.1:g.1961G>A, NT_167249.2:g.3344655G>A, NT_167249.1:g.3343953G>A, NT_167248.2:g.3266703G>A, NT_167248.1:g.3272299G>A, NM_007116.1:c.906C>T

Select item 14897085967.

rs1489708596 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:32096173 (GRCh38)
6:32063950 (GRCh37)
Canonical SPDI:: NC_000006.12:32096172:GGGG:GGG
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32096176del, NC_000006.11:g.32063953del, NG_008337.2:g.18202del, NM_019105.8:c.1680del, NM_019105.7:c.1680del, NM_019105.6:c.1680del, NM_001365276.2:c.1680del, NM_001365276.1:c.1680del, NT_113891.3:g.3534509del, NT_113891.2:g.3534615del, NT_167247.2:g.3438202del, NT_167247.1:g.3443787del, NT_167245.2:g.3337563del, NT_167245.1:g.3343148del, NT_167246.2:g.3401176del, NT_167246.1:g.3406796del, NP_061978.6:p.Gly562fs, NP_001352205.1:p.Gly562fs

Select item 14896476398.

rs1489647639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:32072261 (GRCh38)
6:32040038 (GRCh37)
Canonical SPDI:: NC_000006.12:32072260:C:A,NC_000006.12:32072260:C:G
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32072261C>A, NC_000006.12:g.32072261C>G, NC_000006.11:g.32040038C>A, NC_000006.11:g.32040038C>G, NG_008337.2:g.42114G>T, NG_008337.2:g.42114G>C, NM_019105.8:c.4719G>T, NM_019105.8:c.4719G>C, NM_019105.7:c.4719G>T, NM_019105.7:c.4719G>C, NM_019105.6:c.4719G>T, NM_019105.6:c.4719G>C, NM_001365276.2:c.4719G>T, NM_001365276.2:c.4719G>C, NM_001365276.1:c.4719G>T, NM_001365276.1:c.4719G>C, NT_113891.3:g.3510600C>A, NT_113891.3:g.3510600C>G, NT_113891.2:g.3510706C>A, NT_113891.2:g.3510706C>G, NT_167247.2:g.3414309C>A, NT_167247.2:g.3414309C>G, NT_167247.1:g.3419894C>A, NT_167247.1:g.3419894C>G, NT_167245.2:g.3313667C>A, NT_167245.2:g.3313667C>G, NT_167245.1:g.3319252C>A, NT_167245.1:g.3319252C>G, NT_167248.2:g.3295478C>A, NT_167248.2:g.3295478C>G, NT_167248.1:g.3301074C>A, NT_167248.1:g.3301074C>G, NT_167246.2:g.3377255C>A, NT_167246.2:g.3377255C>G, NT_167246.1:g.3382875C>A, NT_167246.1:g.3382875C>G, NP_061978.6:p.Lys1573Asn, NP_061978.6:p.Lys1573Asn, NP_001352205.1:p.Lys1573Asn, NP_001352205.1:p.Lys1573Asn

Select item 14893656559.

rs1489365655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32095645 (GRCh38)
6:32063422 (GRCh37)
Canonical SPDI:: NC_000006.12:32095644:G:A
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32095645G>A, NC_000006.11:g.32063422G>A, NG_008337.2:g.18730C>T, NM_019105.8:c.2208C>T, NM_019105.7:c.2208C>T, NM_019105.6:c.2208C>T, NM_001365276.2:c.2208C>T, NM_001365276.1:c.2208C>T, NT_113891.3:g.3533978G>A, NT_113891.2:g.3534084G>A, NT_167247.2:g.3437671G>A, NT_167247.1:g.3443256G>A, NT_167245.2:g.3337032G>A, NT_167245.1:g.3342617G>A, NT_167246.2:g.3400645G>A, NT_167246.1:g.3406265G>A

Select item 148907215710.

rs1489072157 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGACGGTCCAGG [Show Flanks]
Chromosome:: 6:32058246 (GRCh38)
6:32026024 (GRCh37)
Canonical SPDI:: NC_000006.12:32058246:GGGGGACGGTCCAGG:GGGGGACGGTCCAGGGGGACGGTCCAGG
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGACGGTCCAGGGGGACGGTCCAGG=0.000071/1 (ALFA)
GGGGGACGGTCCA=0.000004/1 (TOPMED)
GGGGGACGGTCCA=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32058249_32058261dup, NC_000006.11:g.32026026_32026038dup, NG_008337.2:g.56116_56128dup, NM_019105.8:c.7624_7636dup, NM_019105.7:c.7624_7636dup, NM_019105.6:c.7624_7636dup, NM_001365276.2:c.7624_7636dup, NM_001365276.1:c.7624_7636dup, NT_113891.3:g.3496571_3496583dup, NT_113891.2:g.3496677_3496689dup, NT_167247.2:g.3400282_3400294dup, NT_167247.1:g.3405867_3405879dup, NT_167245.2:g.3299657_3299669dup, NT_167245.1:g.3305242_3305254dup, NT_167248.2:g.3281484_3281496dup, NT_167248.1:g.3287080_3287092dup, NT_167249.2:g.3359436_3359448dup, NT_167249.1:g.3358734_3358746dup, NP_061978.6:p.Gln2546fs, NP_001352205.1:p.Gln2546fs

Select item 148840343611.

rs1488403436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:32073756 (GRCh38)
6:32041533 (GRCh37)
Canonical SPDI:: NC_000006.12:32073755:C:G
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000006.12:g.32073756C>G, NC_000006.11:g.32041533C>G, NG_008337.2:g.40619G>C, NM_019105.8:c.4572G>C, NM_019105.7:c.4572G>C, NM_019105.6:c.4572G>C, NM_001365276.2:c.4572G>C, NM_001365276.1:c.4572G>C, NT_113891.3:g.3512095C>G, NT_113891.2:g.3512201C>G, NT_167247.2:g.3415804C>G, NT_167247.1:g.3421389C>G, NT_167245.2:g.3315162C>G, NT_167245.1:g.3320747C>G, NT_167248.2:g.3296973C>G, NT_167248.1:g.3302569C>G, NT_167246.2:g.3378750C>G, NT_167246.1:g.3384370C>G, NT_167244.2:g.3406377C>G, NT_167244.1:g.3356293C>G, NP_061978.6:p.Gln1524His, NP_001352205.1:p.Gln1524His

Select item 148823606512.

rs1488236065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32042169 (GRCh38)
6:32009946 (GRCh37)
Canonical SPDI:: NC_000006.12:32042168:A:G
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32042169A>G, NC_000006.11:g.32009946A>G, NG_007941.3:g.8865A>G, NT_113891.3:g.3480491A>G, NT_113891.2:g.3480597A>G, NG_008337.2:g.72206T>C, NM_019105.8:c.12306T>C, NM_019105.7:c.12306T>C, NM_019105.6:c.12306T>C, NM_032470.4:c.1599T>C, NM_032470.3:c.1599T>C, NM_001365276.2:c.12312T>C, NM_001365276.1:c.12312T>C, NT_167247.2:g.3384202A>G, NT_167247.1:g.3389787A>G, NT_167245.2:g.3283577A>G, NT_167245.1:g.3289162A>G, NG_045227.1:g.662A>G, NT_167249.2:g.3343356A>G, NT_167249.1:g.3342654A>G, NT_167248.2:g.3265404A>G, NT_167248.1:g.3271000A>G, NM_007116.1:c.1599T>C

Select item 148803556213.

rs1488035562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32044581 (GRCh38)
6:32012358 (GRCh37)
Canonical SPDI:: NC_000006.12:32044580:C:T
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32044581C>T, NC_000006.11:g.32012358C>T, NG_008337.2:g.69794G>A, NM_019105.8:c.11057G>A, NM_019105.7:c.11057G>A, NM_019105.6:c.11057G>A, NM_032470.4:c.350G>A, NM_032470.3:c.350G>A, NM_001365276.2:c.11063G>A, NM_001365276.1:c.11063G>A, NT_113891.3:g.3482903C>T, NT_113891.2:g.3483009C>T, NG_045227.1:g.3074C>T, NT_167247.2:g.3386614C>T, NT_167247.1:g.3392199C>T, NT_167245.2:g.3285990C>T, NT_167245.1:g.3291575C>T, NT_167248.2:g.3267816C>T, NT_167248.1:g.3273412C>T, NT_167249.2:g.3345768C>T, NT_167249.1:g.3345066C>T, NM_007116.1:c.350G>A, NP_061978.6:p.Arg3686His, NP_115859.2:p.Arg117His, NP_001352205.1:p.Arg3688His

Select item 148802940614.

rs1488029406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32088922 (GRCh38)
6:32056699 (GRCh37)
Canonical SPDI:: NC_000006.12:32088921:C:T
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.32088922C>T, NC_000006.11:g.32056699C>T, NG_008337.2:g.25453G>A, NM_019105.8:c.2642G>A, NM_019105.7:c.2642G>A, NM_019105.6:c.2642G>A, NM_001365276.2:c.2642G>A, NM_001365276.1:c.2642G>A, NT_113891.3:g.3527256C>T, NT_113891.2:g.3527362C>T, NT_167247.2:g.3430950C>T, NT_167247.1:g.3436535C>T, NT_167245.2:g.3330313C>T, NT_167245.1:g.3335898C>T, NT_167246.2:g.3393924C>T, NT_167246.1:g.3399544C>T, XR_007068840.1:n.415C>T, XR_007068820.1:n.415C>T, NP_061978.6:p.Arg881Lys, NP_001352205.1:p.Arg881Lys

Select item 148770631815.

rs1487706318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32097254 (GRCh38)
6:32065031 (GRCh37)
Canonical SPDI:: NC_000006.12:32097253:C:T
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32097254C>T, NC_000006.11:g.32065031C>T, NG_008337.2:g.17121G>A, NM_019105.8:c.599G>A, NM_019105.7:c.599G>A, NM_019105.6:c.599G>A, NM_001365276.2:c.599G>A, NM_001365276.1:c.599G>A, NT_113891.3:g.3535587C>T, NT_113891.2:g.3535693C>T, NT_167247.2:g.3439280C>T, NT_167247.1:g.3444865C>T, NT_167245.2:g.3338641C>T, NT_167245.1:g.3344226C>T, NT_167246.2:g.3402254C>T, NT_167246.1:g.3407874C>T, NP_061978.6:p.Gly200Asp, NP_001352205.1:p.Gly200Asp

Select item 148767553916.

rs1487675539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32009138 (GRCh38)
6:31976915 (GRCh37)
Canonical SPDI:: NC_000006.12:32009137:G:A
Gene:: CYP21A1P (Varview), TNXA (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.32009138G>A, NC_000006.11:g.31976915G>A, NG_045228.1:g.366G>A, NT_167248.2:g.3265108G>A, NT_167248.1:g.3270704G>A, NG_045227.1:g.366G>A, NT_113891.3:g.3480195G>A, NT_113891.2:g.3480301G>A, NG_007941.3:g.8569G>A, NG_008337.2:g.72502C>T, NM_019105.8:c.12525C>T, NM_019105.7:c.12525C>T, NM_019105.6:c.12525C>T, NM_032470.4:c.1818C>T, NM_032470.3:c.1818C>T, NM_001365276.2:c.12531C>T, NM_001365276.1:c.12531C>T, NT_167245.2:g.3283281G>A, NT_167245.1:g.3288866G>A, NT_167249.2:g.3343060G>A, NT_167249.1:g.3342358G>A, NT_167247.2:g.3383906G>A, NT_167247.1:g.3389491G>A, NR_001284.2:n.2385C>T, NM_007116.1:c.1818C>T

Select item 148767456317.

rs1487674563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:32096662 (GRCh38)
6:32064439 (GRCh37)
Canonical SPDI:: NC_000006.12:32096661:G:A,NC_000006.12:32096661:G:C
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.32096662G>A, NC_000006.12:g.32096662G>C, NC_000006.11:g.32064439G>A, NC_000006.11:g.32064439G>C, NG_008337.2:g.17713C>T, NG_008337.2:g.17713C>G, NM_019105.8:c.1191C>T, NM_019105.8:c.1191C>G, NM_019105.7:c.1191C>T, NM_019105.7:c.1191C>G, NM_019105.6:c.1191C>T, NM_019105.6:c.1191C>G, NM_001365276.2:c.1191C>T, NM_001365276.2:c.1191C>G, NM_001365276.1:c.1191C>T, NM_001365276.1:c.1191C>G, NT_113891.3:g.3534995G>A, NT_113891.3:g.3534995G>C, NT_113891.2:g.3535101G>A, NT_113891.2:g.3535101G>C, NT_167247.2:g.3438688G>A, NT_167247.2:g.3438688G>C, NT_167247.1:g.3444273G>A, NT_167247.1:g.3444273G>C, NT_167245.2:g.3338049G>A, NT_167245.2:g.3338049G>C, NT_167245.1:g.3343634G>A, NT_167245.1:g.3343634G>C, NT_167246.2:g.3401662G>A, NT_167246.2:g.3401662G>C, NT_167246.1:g.3407282G>A, NT_167246.1:g.3407282G>C, NP_061978.6:p.Asp397Glu, NP_001352205.1:p.Asp397Glu

Select item 148747339418.

rs1487473394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32068948 (GRCh38)
6:32036725 (GRCh37)
Canonical SPDI:: NC_000006.12:32068947:G:A
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.32068948G>A, NC_000006.11:g.32036725G>A, NG_008337.2:g.45427C>T, NM_019105.8:c.5776C>T, NM_019105.7:c.5776C>T, NM_019105.6:c.5776C>T, NM_001365276.2:c.5776C>T, NM_001365276.1:c.5776C>T, NT_113891.3:g.3507287G>A, NT_113891.2:g.3507393G>A, NT_167247.2:g.3410994G>A, NT_167247.1:g.3416579G>A, NT_167245.2:g.3310353G>A, NT_167245.1:g.3315938G>A, NT_167248.2:g.3292166G>A, NT_167248.1:g.3297762G>A, NT_167246.2:g.3373942G>A, NT_167246.1:g.3379562G>A, NP_061978.6:p.Arg1926Cys, NP_001352205.1:p.Arg1926Cys

Select item 148739809519.

rs1487398095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32049496 (GRCh38)
6:32017273 (GRCh37)
Canonical SPDI:: NC_000006.12:32049495:G:A
Gene:: TNXB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.32049496G>A, NC_000006.11:g.32017273G>A, NG_008337.2:g.64879C>T, NM_019105.8:c.9525C>T, NM_019105.7:c.9525C>T, NM_019105.6:c.9525C>T, NM_001365276.2:c.9531C>T, NM_001365276.1:c.9531C>T, NT_113891.3:g.3487818G>A, NT_113891.2:g.3487924G>A, NT_167247.2:g.3391529G>A, NT_167247.1:g.3397114G>A, NT_167245.2:g.3290905G>A, NT_167245.1:g.3296490G>A, NT_167248.2:g.3272731G>A, NT_167248.1:g.3278327G>A, NT_167249.2:g.3350683G>A, NT_167249.1:g.3349981G>A

Select item 148727564720.

rs1487275647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:32009601 (GRCh38)
6:31977378 (GRCh37)
Canonical SPDI:: NC_000006.12:32009600:C:A,NC_000006.12:32009600:C:T
Gene:: TNXA (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.32009601C>A, NC_000006.12:g.32009601C>T, NC_000006.11:g.31977378C>A, NC_000006.11:g.31977378C>T, NG_045228.1:g.829C>A, NG_045228.1:g.829C>T, NT_167248.2:g.3265571C>A, NT_167248.2:g.3265571C>T, NT_167248.1:g.3271167C>A, NT_167248.1:g.3271167C>T, NG_045227.1:g.829C>A, NG_045227.1:g.829C>T, NT_113891.3:g.3480658C>A, NT_113891.3:g.3480658C>T, NT_113891.2:g.3480764C>A, NT_113891.2:g.3480764C>T, NG_007941.3:g.9032C>A, NG_007941.3:g.9032C>T, NG_008337.2:g.72039G>T, NG_008337.2:g.72039G>A, NM_019105.8:c.12231G>T, NM_019105.8:c.12231G>A, NM_019105.7:c.12231G>T, NM_019105.7:c.12231G>A, NM_019105.6:c.12231G>T, NM_019105.6:c.12231G>A, NM_032470.4:c.1524G>T, NM_032470.4:c.1524G>A, NM_032470.3:c.1524G>T, NM_032470.3:c.1524G>A, NM_001365276.2:c.12237G>T, NM_001365276.2:c.12237G>A, NM_001365276.1:c.12237G>T, NM_001365276.1:c.12237G>A, NT_167245.2:g.3283744C>A, NT_167245.2:g.3283744C>T, NT_167245.1:g.3289329C>A, NT_167245.1:g.3289329C>T, NT_167249.2:g.3343523C>A, NT_167249.2:g.3343523C>T, NT_167249.1:g.3342821C>A, NT_167249.1:g.3342821C>T, NT_167247.2:g.3384369C>A, NT_167247.2:g.3384369C>T, NT_167247.1:g.3389954C>A, NT_167247.1:g.3389954C>T, NR_001284.2:n.2091G>T, NR_001284.2:n.2091G>A, NM_007116.1:c.1524G>T, NM_007116.1:c.1524G>A

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Result Filters

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