SNP Links for Protein (Select 110227624) - SNP

Links from Protein

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Select item 14905468371.

rs1490546837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:42925565 (GRCh38)
6:42893303 (GRCh37)
Canonical SPDI:: NC_000006.12:42925564:C:A,NC_000006.12:42925564:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,stop_gained
Validated:: by cluster
HGVS:: NC_000006.12:g.42925565C>A, NC_000006.12:g.42925565C>T, NC_000006.11:g.42893303C>A, NC_000006.11:g.42893303C>T, NG_029636.1:g.14577C>A, NG_029636.1:g.14577C>T, NM_138296.3:c.729C>A, NM_138296.3:c.729C>T, NM_138296.2:c.729C>A, NM_138296.2:c.729C>T, NM_001243168.2:c.774C>A, NM_001243168.2:c.774C>T, NM_001243168.1:c.774C>A, NM_001243168.1:c.774C>T, NM_001243169.2:c.654C>A, NM_001243169.2:c.654C>T, NM_001243169.1:c.654C>A, NM_001243169.1:c.654C>T, NM_001243170.2:c.408C>A, NM_001243170.2:c.408C>T, NM_001243170.1:c.408C>A, NM_001243170.1:c.408C>T, XM_024446344.2:c.*64C>A, XM_024446344.2:c.*64C>T, XM_024446344.1:c.*64C>A, XM_024446344.1:c.*64C>T, XM_024446346.2:c.*64C>A, XM_024446346.2:c.*64C>T, XM_024446346.1:c.*64C>A, XM_024446346.1:c.*64C>T, XM_024446342.1:c.630C>A, XM_024446342.1:c.630C>T, XM_024446345.1:c.*64C>A, XM_024446345.1:c.*64C>T, NP_612153.2:p.Tyr243Ter, NP_001230097.1:p.Tyr258Ter, NP_001230098.1:p.Tyr218Ter, NP_001230099.1:p.Tyr136Ter, XP_024302110.1:p.Tyr210Ter

Select item 14884070292.

rs1488407029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42925274 (GRCh38)
6:42893012 (GRCh37)
Canonical SPDI:: NC_000006.12:42925273:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000006.12:g.42925274G>A, NC_000006.11:g.42893012G>A, NG_029636.1:g.14286G>A, NM_138296.3:c.438G>A, NM_138296.2:c.438G>A, NM_001243168.2:c.483G>A, NM_001243168.1:c.483G>A, NM_001243169.2:c.363G>A, NM_001243169.1:c.363G>A, NM_001243170.2:c.117G>A, NM_001243170.1:c.117G>A, XM_024446342.1:c.339G>A

Select item 14818078923.

rs1481807892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42925339 (GRCh38)
6:42893077 (GRCh37)
Canonical SPDI:: NC_000006.12:42925338:C:G
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42925339C>G, NC_000006.11:g.42893077C>G, NG_029636.1:g.14351C>G, NM_138296.3:c.503C>G, NM_138296.2:c.503C>G, NM_001243168.2:c.548C>G, NM_001243168.1:c.548C>G, NM_001243169.2:c.428C>G, NM_001243169.1:c.428C>G, NM_001243170.2:c.182C>G, NM_001243170.1:c.182C>G, XM_024446342.1:c.404C>G, NP_612153.2:p.Thr168Ser, NP_001230097.1:p.Thr183Ser, NP_001230098.1:p.Thr143Ser, NP_001230099.1:p.Thr61Ser, XP_024302110.1:p.Thr135Ser

Select item 14813756224.

rs1481375622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42925343 (GRCh38)
6:42893081 (GRCh37)
Canonical SPDI:: NC_000006.12:42925342:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42925343C>T, NC_000006.11:g.42893081C>T, NG_029636.1:g.14355C>T, NM_138296.3:c.507C>T, NM_138296.2:c.507C>T, NM_001243168.2:c.552C>T, NM_001243168.1:c.552C>T, NM_001243169.2:c.432C>T, NM_001243169.1:c.432C>T, NM_001243170.2:c.186C>T, NM_001243170.1:c.186C>T, XM_024446342.1:c.408C>T

Select item 14769900255.

rs1476990025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42925505 (GRCh38)
6:42893243 (GRCh37)
Canonical SPDI:: NC_000006.12:42925504:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
T=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.42925505C>T, NC_000006.11:g.42893243C>T, NG_029636.1:g.14517C>T, NM_138296.3:c.669C>T, NM_138296.2:c.669C>T, NM_001243168.2:c.714C>T, NM_001243168.1:c.714C>T, NM_001243169.2:c.594C>T, NM_001243169.1:c.594C>T, NM_001243170.2:c.348C>T, NM_001243170.1:c.348C>T, XM_024446344.2:c.*4C>T, XM_024446344.1:c.*4C>T, XM_024446346.2:c.*4C>T, XM_024446346.1:c.*4C>T, XM_024446342.1:c.570C>T, XM_024446345.1:c.*4C>T

Select item 14764681016.

rs1476468101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42925445 (GRCh38)
6:42893183 (GRCh37)
Canonical SPDI:: NC_000006.12:42925444:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.42925445G>A, NC_000006.11:g.42893183G>A, NG_029636.1:g.14457G>A, NM_138296.3:c.609G>A, NM_138296.2:c.609G>A, NM_001243168.2:c.654G>A, NM_001243168.1:c.654G>A, NM_001243169.2:c.534G>A, NM_001243169.1:c.534G>A, NM_001243170.2:c.288G>A, NM_001243170.1:c.288G>A, XM_024446344.2:c.556G>A, XM_024446344.1:c.556G>A, XM_024446346.2:c.406G>A, XM_024446346.1:c.406G>A, XM_024446342.1:c.510G>A, XM_024446345.1:c.508G>A, XP_024302112.1:p.Gly186Arg, XP_024302114.1:p.Gly136Arg, XP_024302113.1:p.Gly170Arg

Select item 14724061557.

rs1472406155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:42924265 (GRCh38)
6:42892003 (GRCh37)
Canonical SPDI:: NC_000006.12:42924264:C:G,NC_000006.12:42924264:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42924265C>G, NC_000006.12:g.42924265C>T, NC_000006.11:g.42892003C>G, NC_000006.11:g.42892003C>T, NG_029636.1:g.13277C>G, NG_029636.1:g.13277C>T, NM_138296.3:c.416C>G, NM_138296.3:c.416C>T, NM_138296.2:c.416C>G, NM_138296.2:c.416C>T, NM_001243168.2:c.416C>G, NM_001243168.2:c.416C>T, NM_001243168.1:c.416C>G, NM_001243168.1:c.416C>T, NM_001243169.2:c.341C>G, NM_001243169.2:c.341C>T, NM_001243169.1:c.341C>G, NM_001243169.1:c.341C>T, NM_001243170.2:c.95C>G, NM_001243170.2:c.95C>T, NM_001243170.1:c.95C>G, NM_001243170.1:c.95C>T, XM_024446344.2:c.448C>G, XM_024446344.2:c.448C>T, XM_024446344.1:c.448C>G, XM_024446344.1:c.448C>T, XM_024446346.2:c.298C>G, XM_024446346.2:c.298C>T, XM_024446346.1:c.298C>G, XM_024446346.1:c.298C>T, XM_024446342.1:c.317C>G, XM_024446342.1:c.317C>T, XM_024446345.1:c.400C>G, XM_024446345.1:c.400C>T, NP_612153.2:p.Pro139Arg, NP_612153.2:p.Pro139Leu, NP_001230097.1:p.Pro139Arg, NP_001230097.1:p.Pro139Leu, NP_001230098.1:p.Pro114Arg, NP_001230098.1:p.Pro114Leu, NP_001230099.1:p.Pro32Arg, NP_001230099.1:p.Pro32Leu, XP_024302112.1:p.Leu150Val, XP_024302112.1:p.Leu150Phe, XP_024302114.1:p.Leu100Val, XP_024302114.1:p.Leu100Phe, XP_024302110.1:p.Pro106Arg, XP_024302110.1:p.Pro106Leu, XP_024302113.1:p.Leu134Val, XP_024302113.1:p.Leu134Phe

Select item 14720523958.

rs1472052395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42924273 (GRCh38)
6:42892011 (GRCh37)
Canonical SPDI:: NC_000006.12:42924272:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42924273G>A, NC_000006.11:g.42892011G>A, NG_029636.1:g.13285G>A, NM_138296.3:c.424G>A, NM_138296.2:c.424G>A, NM_001243168.2:c.424G>A, NM_001243168.1:c.424G>A, NM_001243169.2:c.349G>A, NM_001243169.1:c.349G>A, NM_001243170.2:c.103G>A, NM_001243170.1:c.103G>A, XM_024446344.2:c.456G>A, XM_024446344.1:c.456G>A, XM_024446346.2:c.306G>A, XM_024446346.1:c.306G>A, XM_024446342.1:c.325G>A, XM_024446345.1:c.408G>A, NP_612153.2:p.Gly142Arg, NP_001230097.1:p.Gly142Arg, NP_001230098.1:p.Gly117Arg, NP_001230099.1:p.Gly35Arg, XP_024302110.1:p.Gly109Arg

Select item 14657789419.

rs1465778941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:42925471 (GRCh38)
6:42893209 (GRCh37)
Canonical SPDI:: NC_000006.12:42925470:G:T
Gene:: PTCRA (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_000006.12:g.42925471G>T, NC_000006.11:g.42893209G>T, NG_029636.1:g.14483G>T, NM_138296.3:c.635G>T, NM_138296.2:c.635G>T, NM_001243168.2:c.680G>T, NM_001243168.1:c.680G>T, NM_001243169.2:c.560G>T, NM_001243169.1:c.560G>T, NM_001243170.2:c.314G>T, NM_001243170.1:c.314G>T, XM_024446344.2:c.582G>T, XM_024446344.1:c.582G>T, XM_024446346.2:c.432G>T, XM_024446346.1:c.432G>T, XM_024446342.1:c.536G>T, XM_024446345.1:c.534G>T, NP_612153.2:p.Arg212Ile, NP_001230097.1:p.Arg227Ile, NP_001230098.1:p.Arg187Ile, NP_001230099.1:p.Arg105Ile, XP_024302112.1:p.Gln194His, XP_024302114.1:p.Gln144His, XP_024302110.1:p.Arg179Ile, XP_024302113.1:p.Gln178His

Select item 146440279610.

rs1464402796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42925437 (GRCh38)
6:42893175 (GRCh37)
Canonical SPDI:: NC_000006.12:42925436:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.42925437G>A, NC_000006.11:g.42893175G>A, NG_029636.1:g.14449G>A, NM_138296.3:c.601G>A, NM_138296.2:c.601G>A, NM_001243168.2:c.646G>A, NM_001243168.1:c.646G>A, NM_001243169.2:c.526G>A, NM_001243169.1:c.526G>A, NM_001243170.2:c.280G>A, NM_001243170.1:c.280G>A, XM_024446344.2:c.548G>A, XM_024446344.1:c.548G>A, XM_024446346.2:c.398G>A, XM_024446346.1:c.398G>A, XM_024446342.1:c.502G>A, XM_024446345.1:c.500G>A, NP_612153.2:p.Glu201Lys, NP_001230097.1:p.Glu216Lys, NP_001230098.1:p.Glu176Lys, NP_001230099.1:p.Glu94Lys, XP_024302112.1:p.Gly183Glu, XP_024302114.1:p.Gly133Glu, XP_024302110.1:p.Glu168Lys, XP_024302113.1:p.Gly167Glu

Select item 146163605111.

rs1461636051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42925393 (GRCh38)
6:42893131 (GRCh37)
Canonical SPDI:: NC_000006.12:42925392:C:G
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.42925393C>G, NC_000006.11:g.42893131C>G, NG_029636.1:g.14405C>G, NM_138296.3:c.557C>G, NM_138296.2:c.557C>G, NM_001243168.2:c.602C>G, NM_001243168.1:c.602C>G, NM_001243169.2:c.482C>G, NM_001243169.1:c.482C>G, NM_001243170.2:c.236C>G, NM_001243170.1:c.236C>G, XM_024446344.2:c.504C>G, XM_024446344.1:c.504C>G, XM_024446346.2:c.354C>G, XM_024446346.1:c.354C>G, XM_024446342.1:c.458C>G, XM_024446345.1:c.456C>G, NP_612153.2:p.Thr186Ser, NP_001230097.1:p.Thr201Ser, NP_001230098.1:p.Thr161Ser, NP_001230099.1:p.Thr79Ser, XP_024302112.1:p.His168Gln, XP_024302114.1:p.His118Gln, XP_024302110.1:p.Thr153Ser, XP_024302113.1:p.His152Gln

Select item 145843279412.

rs1458432794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42923062 (GRCh38)
6:42890800 (GRCh37)
Canonical SPDI:: NC_000006.12:42923061:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42923062C>T, NC_000006.11:g.42890800C>T, NG_029636.1:g.12074C>T, NM_138296.3:c.94C>T, NM_138296.2:c.94C>T, NM_001243168.2:c.94C>T, NM_001243168.1:c.94C>T, XM_024446344.2:c.126C>T, XM_024446344.1:c.126C>T, XM_024446342.1:c.-6C>T, XM_024446345.1:c.78C>T, NP_612153.2:p.Pro32Ser, NP_001230097.1:p.Pro32Ser

Select item 145540277113.

rs1455402771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42923238 (GRCh38)
6:42890976 (GRCh37)
Canonical SPDI:: NC_000006.12:42923237:C:A
Gene:: PTCRA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.42923238C>A, NC_000006.11:g.42890976C>A, NG_029636.1:g.12250C>A, NM_138296.3:c.270C>A, NM_138296.2:c.270C>A, NM_001243168.2:c.270C>A, NM_001243168.1:c.270C>A, NM_001243169.2:c.195C>A, NM_001243169.1:c.195C>A, XM_024446344.2:c.302C>A, XM_024446344.1:c.302C>A, XM_024446346.2:c.152C>A, XM_024446346.1:c.152C>A, XM_024446342.1:c.171C>A, XM_024446345.1:c.254C>A, XP_024302112.1:p.Pro101His, XP_024302114.1:p.Pro51His, XP_024302113.1:p.Pro85His

Select item 145236045014.

rs1452360450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42924272 (GRCh38)
6:42892010 (GRCh37)
Canonical SPDI:: NC_000006.12:42924271:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42924272G>A, NC_000006.11:g.42892010G>A, NG_029636.1:g.13284G>A, NM_138296.3:c.423G>A, NM_138296.2:c.423G>A, NM_001243168.2:c.423G>A, NM_001243168.1:c.423G>A, NM_001243169.2:c.348G>A, NM_001243169.1:c.348G>A, NM_001243170.2:c.102G>A, NM_001243170.1:c.102G>A, XM_024446344.2:c.455G>A, XM_024446344.1:c.455G>A, XM_024446346.2:c.305G>A, XM_024446346.1:c.305G>A, XM_024446342.1:c.324G>A, XM_024446345.1:c.407G>A, XP_024302112.1:p.Gly152Glu, XP_024302114.1:p.Gly102Glu, XP_024302113.1:p.Gly136Glu

Select item 144973657915.

rs1449736579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42925500 (GRCh38)
6:42893238 (GRCh37)
Canonical SPDI:: NC_000006.12:42925499:G:A
Gene:: PTCRA (Varview)
Functional Consequence:: terminator_codon_variant,missense_variant,synonymous_variant,coding_sequence_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_000006.12:g.42925500G>A, NC_000006.11:g.42893238G>A, NG_029636.1:g.14512G>A, NM_138296.3:c.664G>A, NM_138296.2:c.664G>A, NM_001243168.2:c.709G>A, NM_001243168.1:c.709G>A, NM_001243169.2:c.589G>A, NM_001243169.1:c.589G>A, NM_001243170.2:c.343G>A, NM_001243170.1:c.343G>A, XM_024446344.2:c.611G>A, XM_024446344.1:c.611G>A, XM_024446346.2:c.461G>A, XM_024446346.1:c.461G>A, XM_024446342.1:c.565G>A, XM_024446345.1:c.563G>A, NP_612153.2:p.Asp222Asn, NP_001230097.1:p.Asp237Asn, NP_001230098.1:p.Asp197Asn, NP_001230099.1:p.Asp115Asn, XP_024302110.1:p.Asp189Asn

Select item 144972589216.

rs1449725892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:42923079 (GRCh38)
6:42890817 (GRCh37)
Canonical SPDI:: NC_000006.12:42923078:G:T
Gene:: PTCRA (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_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_000006.12:g.42923079G>T, NC_000006.11:g.42890817G>T, NG_029636.1:g.12091G>T, NM_138296.3:c.111G>T, NM_138296.2:c.111G>T, NM_001243168.2:c.111G>T, NM_001243168.1:c.111G>T, XM_024446344.2:c.143G>T, XM_024446344.1:c.143G>T, XM_024446342.1:c.12G>T, XM_024446345.1:c.95G>T, XP_024302112.1:p.Trp48Leu, XP_024302113.1:p.Trp32Leu

Select item 144873658017.

rs1448736580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42925401 (GRCh38)
6:42893139 (GRCh37)
Canonical SPDI:: NC_000006.12:42925400:C:T
Gene:: PTCRA (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.42925401C>T, NC_000006.11:g.42893139C>T, NG_029636.1:g.14413C>T, NM_138296.3:c.565C>T, NM_138296.2:c.565C>T, NM_001243168.2:c.610C>T, NM_001243168.1:c.610C>T, NM_001243169.2:c.490C>T, NM_001243169.1:c.490C>T, NM_001243170.2:c.244C>T, NM_001243170.1:c.244C>T, XM_024446344.2:c.512C>T, XM_024446344.1:c.512C>T, XM_024446346.2:c.362C>T, XM_024446346.1:c.362C>T, XM_024446342.1:c.466C>T, XM_024446345.1:c.464C>T, NP_612153.2:p.Arg189Ter, NP_001230097.1:p.Arg204Ter, NP_001230098.1:p.Arg164Ter, NP_001230099.1:p.Arg82Ter, XP_024302112.1:p.Ala171Val, XP_024302114.1:p.Ala121Val, XP_024302110.1:p.Arg156Ter, XP_024302113.1:p.Ala155Val

Select item 143643687718.

rs1436436877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:42923347 (GRCh38)
6:42891085 (GRCh37)
Canonical SPDI:: NC_000006.12:42923346:G:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42923347G>T, NC_000006.11:g.42891085G>T, NG_029636.1:g.12359G>T, NM_138296.3:c.379G>T, NM_138296.2:c.379G>T, NM_001243168.2:c.379G>T, NM_001243168.1:c.379G>T, NM_001243169.2:c.304G>T, NM_001243169.1:c.304G>T, XM_024446344.2:c.411G>T, XM_024446344.1:c.411G>T, XM_024446346.2:c.261G>T, XM_024446346.1:c.261G>T, XM_024446342.1:c.280G>T, XM_024446345.1:c.363G>T, NP_612153.2:p.Gly127Ter, NP_001230097.1:p.Gly127Ter, NP_001230098.1:p.Gly102Ter, XP_024302112.1:p.Gln137His, XP_024302114.1:p.Gln87His, XP_024302110.1:p.Gly94Ter, XP_024302113.1:p.Gln121His

Select item 143634911319.

rs1436349113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42925418 (GRCh38)
6:42893156 (GRCh37)
Canonical SPDI:: NC_000006.12:42925417:T:C
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42925418T>C, NC_000006.11:g.42893156T>C, NG_029636.1:g.14430T>C, NM_138296.3:c.582T>C, NM_138296.2:c.582T>C, NM_001243168.2:c.627T>C, NM_001243168.1:c.627T>C, NM_001243169.2:c.507T>C, NM_001243169.1:c.507T>C, NM_001243170.2:c.261T>C, NM_001243170.1:c.261T>C, XM_024446344.2:c.529T>C, XM_024446344.1:c.529T>C, XM_024446346.2:c.379T>C, XM_024446346.1:c.379T>C, XM_024446342.1:c.483T>C, XM_024446345.1:c.481T>C, XP_024302112.1:p.Ser177Pro, XP_024302114.1:p.Ser127Pro, XP_024302113.1:p.Ser161Pro

Select item 143552494420.

rs1435524944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:42923098 (GRCh38)
6:42890836 (GRCh37)
Canonical SPDI:: NC_000006.12:42923097:G:T
Gene:: PTCRA (Varview)
Functional Consequence:: coding_sequence_variant,intron_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.42923098G>T, NC_000006.11:g.42890836G>T, NG_029636.1:g.12110G>T, NM_138296.3:c.130G>T, NM_138296.2:c.130G>T, NM_001243168.2:c.130G>T, NM_001243168.1:c.130G>T, XM_024446344.2:c.162G>T, XM_024446344.1:c.162G>T, XM_024446342.1:c.31G>T, XM_024446345.1:c.114G>T, NP_612153.2:p.Val44Leu, NP_001230097.1:p.Val44Leu, XP_024302112.1:p.Trp54Cys, XP_024302110.1:p.Val11Leu, XP_024302113.1:p.Trp38Cys

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