SNP Links for Protein (Select 1070690264) - SNP

Links from Protein

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Select item 14915529881.

rs1491552988 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:4518130 (GRCh38)
12:4627297 (GRCh37)
Canonical SPDI:: NC_000012.12:4518130::T
Gene:: C12orf4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000012.12:g.4518130_4518131insT, NC_000012.11:g.4627296_4627297insT, NG_051648.1:g.25378_25379insA, NM_020374.4:c.960_961insA, NM_020374.3:c.960_961insA, NM_020374.2:c.960_961insA, NM_001304811.2:c.960_961insA, NM_001304811.1:c.960_961insA, NR_144379.2:n.939_940insA, NR_144379.1:n.978_979insA, NM_001346153.2:c.960_961insA, NM_001346153.1:c.960_961insA, NM_001346155.2:c.960_961insA, NM_001346155.1:c.960_961insA, NM_001346156.2:c.441_442insA, NM_001346156.1:c.441_442insA, NM_001352962.2:c.108_109insA, NM_001352962.1:c.108_109insA, NM_001346157.2:c.441_442insA, NM_001346157.1:c.441_442insA, XM_006718992.4:c.960_961insA, XM_006718992.3:c.960_961insA, XM_006718992.2:c.960_961insA, XM_006718992.1:c.960_961insA, NR_144381.1:n.775_776insA, NP_065107.1:p.Tyr321fs, NP_001291740.1:p.Tyr321fs, NP_001333082.1:p.Tyr321fs, NP_001333084.1:p.Tyr321fs, NP_001333085.1:p.Tyr148fs, NP_001339891.1:p.Tyr37fs, NP_001333086.1:p.Tyr148fs, XP_006719055.1:p.Tyr321fs

Select item 14882833972.

rs1488283397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4505359 (GRCh38)
12:4614525 (GRCh37)
Canonical SPDI:: NC_000012.12:4505358:C:T
Gene:: C12orf4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.4505359C>T, NC_000012.11:g.4614525C>T, NG_051648.1:g.38150G>A, NM_020374.4:c.1184G>A, NM_020374.3:c.1184G>A, NM_020374.2:c.1184G>A, NM_001304811.2:c.1184G>A, NM_001304811.1:c.1184G>A, NR_144379.2:n.1163G>A, NR_144379.1:n.1202G>A, NM_001346153.2:c.1055G>A, NM_001346153.1:c.1055G>A, NM_001346155.2:c.1055G>A, NM_001346155.1:c.1055G>A, NM_001346156.2:c.665G>A, NM_001346156.1:c.665G>A, NM_001352962.2:c.332G>A, NM_001352962.1:c.332G>A, NM_001346157.2:c.536G>A, NM_001346157.1:c.536G>A, NR_144380.2:n.836G>A, NR_144380.1:n.875G>A, NR_144382.2:n.633G>A, NR_144382.1:n.672G>A, XM_006718992.4:c.1184G>A, XM_006718992.3:c.1184G>A, XM_006718992.2:c.1184G>A, XM_006718992.1:c.1184G>A, NR_144381.1:n.999G>A, NP_065107.1:p.Gly395Glu, NP_001291740.1:p.Gly395Glu, NP_001333082.1:p.Gly352Glu, NP_001333084.1:p.Gly352Glu, NP_001333085.1:p.Gly222Glu, NP_001339891.1:p.Gly111Glu, NP_001333086.1:p.Gly179Glu, XP_006719055.1:p.Gly395Glu

Select item 14882334853.

rs1488233485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:4518815 (GRCh38)
12:4627981 (GRCh37)
Canonical SPDI:: NC_000012.12:4518814:T:G
Gene:: C12orf4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4518815T>G, NC_000012.11:g.4627981T>G, NG_051648.1:g.24694A>C, NM_020374.4:c.794A>C, NM_020374.3:c.794A>C, NM_020374.2:c.794A>C, NM_001304811.2:c.794A>C, NM_001304811.1:c.794A>C, NM_001346153.2:c.794A>C, NM_001346153.1:c.794A>C, NM_001346155.2:c.794A>C, NM_001346155.1:c.794A>C, NM_001346156.2:c.275A>C, NM_001346156.1:c.275A>C, NM_001346157.2:c.275A>C, NM_001346157.1:c.275A>C, XM_006718992.4:c.794A>C, XM_006718992.3:c.794A>C, XM_006718992.2:c.794A>C, XM_006718992.1:c.794A>C, NP_065107.1:p.Glu265Ala, NP_001291740.1:p.Glu265Ala, NP_001333082.1:p.Glu265Ala, NP_001333084.1:p.Glu265Ala, NP_001333085.1:p.Glu92Ala, NP_001333086.1:p.Glu92Ala, XP_006719055.1:p.Glu265Ala

Select item 14872521074.

rs1487252107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:4525538 (GRCh38)
12:4634704 (GRCh37)
Canonical SPDI:: NC_000012.12:4525537:T:G
Gene:: C12orf4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4525538T>G, NC_000012.11:g.4634704T>G, NG_051648.1:g.17971A>C, NM_020374.4:c.552A>C, NM_020374.3:c.552A>C, NM_020374.2:c.552A>C, NM_001304811.2:c.552A>C, NM_001304811.1:c.552A>C, NR_144379.2:n.638A>C, NR_144379.1:n.677A>C, NM_001346153.2:c.552A>C, NM_001346153.1:c.552A>C, NM_001346155.2:c.552A>C, NM_001346155.1:c.552A>C, NM_001346156.2:c.33A>C, NM_001346156.1:c.33A>C, NM_001352962.2:c.-194A>C, NM_001352962.1:c.-194A>C, NM_001346157.2:c.33A>C, NM_001346157.1:c.33A>C, NR_144380.2:n.638A>C, NR_144380.1:n.677A>C, NR_144382.2:n.435A>C, NR_144382.1:n.474A>C, XM_006718992.4:c.552A>C, XM_006718992.3:c.552A>C, XM_006718992.2:c.552A>C, XM_006718992.1:c.552A>C, NR_144381.1:n.474A>C

Select item 14844022585.

rs1484402258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:4505351 (GRCh38)
12:4614517 (GRCh37)
Canonical SPDI:: NC_000012.12:4505350:C:G,NC_000012.12:4505350:C:T
Gene:: C12orf4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.4505351C>G, NC_000012.12:g.4505351C>T, NC_000012.11:g.4614517C>G, NC_000012.11:g.4614517C>T, NG_051648.1:g.38158G>C, NG_051648.1:g.38158G>A, NM_020374.4:c.1192G>C, NM_020374.4:c.1192G>A, NM_020374.3:c.1192G>C, NM_020374.3:c.1192G>A, NM_020374.2:c.1192G>C, NM_020374.2:c.1192G>A, NM_001304811.2:c.1192G>C, NM_001304811.2:c.1192G>A, NM_001304811.1:c.1192G>C, NM_001304811.1:c.1192G>A, NR_144379.2:n.1171G>C, NR_144379.2:n.1171G>A, NR_144379.1:n.1210G>C, NR_144379.1:n.1210G>A, NM_001346153.2:c.1063G>C, NM_001346153.2:c.1063G>A, NM_001346153.1:c.1063G>C, NM_001346153.1:c.1063G>A, NM_001346155.2:c.1063G>C, NM_001346155.2:c.1063G>A, NM_001346155.1:c.1063G>C, NM_001346155.1:c.1063G>A, NM_001346156.2:c.673G>C, NM_001346156.2:c.673G>A, NM_001346156.1:c.673G>C, NM_001346156.1:c.673G>A, NM_001352962.2:c.340G>C, NM_001352962.2:c.340G>A, NM_001352962.1:c.340G>C, NM_001352962.1:c.340G>A, NM_001346157.2:c.544G>C, NM_001346157.2:c.544G>A, NM_001346157.1:c.544G>C, NM_001346157.1:c.544G>A, NR_144380.2:n.844G>C, NR_144380.2:n.844G>A, NR_144380.1:n.883G>C, NR_144380.1:n.883G>A, NR_144382.2:n.641G>C, NR_144382.2:n.641G>A, NR_144382.1:n.680G>C, NR_144382.1:n.680G>A, XM_006718992.4:c.1192G>C, XM_006718992.4:c.1192G>A, XM_006718992.3:c.1192G>C, XM_006718992.3:c.1192G>A, XM_006718992.2:c.1192G>C, XM_006718992.2:c.1192G>A, XM_006718992.1:c.1192G>C, XM_006718992.1:c.1192G>A, NR_144381.1:n.1007G>C, NR_144381.1:n.1007G>A, NP_065107.1:p.Asp398His, NP_065107.1:p.Asp398Asn, NP_001291740.1:p.Asp398His, NP_001291740.1:p.Asp398Asn, NP_001333082.1:p.Asp355His, NP_001333082.1:p.Asp355Asn, NP_001333084.1:p.Asp355His, NP_001333084.1:p.Asp355Asn, NP_001333085.1:p.Asp225His, NP_001333085.1:p.Asp225Asn, NP_001339891.1:p.Asp114His, NP_001339891.1:p.Asp114Asn, NP_001333086.1:p.Asp182His, NP_001333086.1:p.Asp182Asn, XP_006719055.1:p.Asp398His, XP_006719055.1:p.Asp398Asn

Select item 14843391776.

rs1484339177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4534229 (GRCh38)
12:4643395 (GRCh37)
Canonical SPDI:: NC_000012.12:4534228:G:A
Gene:: C12orf4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000012.12:g.4534229G>A, NC_000012.11:g.4643395G>A, NG_051648.1:g.9280C>T, NM_020374.4:c.252C>T, NM_020374.3:c.252C>T, NM_020374.2:c.252C>T, NM_001304811.2:c.252C>T, NM_001304811.1:c.252C>T, NR_144379.2:n.338C>T, NR_144379.1:n.377C>T, NM_001346153.2:c.252C>T, NM_001346153.1:c.252C>T, NM_001346155.2:c.252C>T, NM_001346155.1:c.252C>T, NM_001346156.2:c.-268C>T, NM_001346156.1:c.-268C>T, NM_001352962.2:c.-494C>T, NM_001352962.1:c.-494C>T, NM_001346157.2:c.-268C>T, NM_001346157.1:c.-268C>T, NR_144380.2:n.338C>T, NR_144380.1:n.377C>T, NR_144382.2:n.135C>T, NR_144382.1:n.174C>T, XM_006718992.4:c.252C>T, XM_006718992.3:c.252C>T, XM_006718992.2:c.252C>T, XM_006718992.1:c.252C>T, NR_144381.1:n.174C>T

Select item 14812770737.

rs1481277073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:4489849 (GRCh38)
12:4599015 (GRCh37)
Canonical SPDI:: NC_000012.12:4489848:G:A
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4489849G>A, NC_000012.11:g.4599015G>A, NG_051648.1:g.53660C>T, NM_020374.4:c.1617C>T, NM_020374.3:c.1617C>T, NM_020374.2:c.1617C>T, NM_001304811.2:c.1617C>T, NM_001304811.1:c.1617C>T, NR_144379.2:n.1596C>T, NR_144379.1:n.1635C>T, NM_001346153.2:c.1488C>T, NM_001346153.1:c.1488C>T, NM_001346155.2:c.1488C>T, NM_001346155.1:c.1488C>T, NM_001346156.2:c.1098C>T, NM_001346156.1:c.1098C>T, NM_001352962.2:c.765C>T, NM_001352962.1:c.765C>T, NM_001346157.2:c.969C>T, NM_001346157.1:c.969C>T, NR_144380.2:n.1269C>T, NR_144380.1:n.1308C>T, NR_144382.2:n.1066C>T, NR_144382.1:n.1105C>T, NR_144381.1:n.1432C>T

Select item 14809833038.

rs1480983303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4518866 (GRCh38)
12:4628032 (GRCh37)
Canonical SPDI:: NC_000012.12:4518865:A:G
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.4518866A>G, NC_000012.11:g.4628032A>G, NG_051648.1:g.24643T>C, NM_020374.4:c.743T>C, NM_020374.3:c.743T>C, NM_020374.2:c.743T>C, NM_001304811.2:c.743T>C, NM_001304811.1:c.743T>C, NM_001346153.2:c.743T>C, NM_001346153.1:c.743T>C, NM_001346155.2:c.743T>C, NM_001346155.1:c.743T>C, NM_001346156.2:c.224T>C, NM_001346156.1:c.224T>C, NM_001346157.2:c.224T>C, NM_001346157.1:c.224T>C, XM_006718992.4:c.743T>C, XM_006718992.3:c.743T>C, XM_006718992.2:c.743T>C, XM_006718992.1:c.743T>C, NP_065107.1:p.Val248Ala, NP_001291740.1:p.Val248Ala, NP_001333082.1:p.Val248Ala, NP_001333084.1:p.Val248Ala, NP_001333085.1:p.Val75Ala, NP_001333086.1:p.Val75Ala, XP_006719055.1:p.Val248Ala

Select item 14782769929.

rs1478276992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:4525569 (GRCh38)
12:4634735 (GRCh37)
Canonical SPDI:: NC_000012.12:4525568:A:C,NC_000012.12:4525568:A:G
Gene:: C12orf4 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4525569A>C, NC_000012.12:g.4525569A>G, NC_000012.11:g.4634735A>C, NC_000012.11:g.4634735A>G, NG_051648.1:g.17940T>G, NG_051648.1:g.17940T>C, NM_020374.4:c.521T>G, NM_020374.4:c.521T>C, NM_020374.3:c.521T>G, NM_020374.3:c.521T>C, NM_020374.2:c.521T>G, NM_020374.2:c.521T>C, NM_001304811.2:c.521T>G, NM_001304811.2:c.521T>C, NM_001304811.1:c.521T>G, NM_001304811.1:c.521T>C, NR_144379.2:n.607T>G, NR_144379.2:n.607T>C, NR_144379.1:n.646T>G, NR_144379.1:n.646T>C, NM_001346153.2:c.521T>G, NM_001346153.2:c.521T>C, NM_001346153.1:c.521T>G, NM_001346153.1:c.521T>C, NM_001346155.2:c.521T>G, NM_001346155.2:c.521T>C, NM_001346155.1:c.521T>G, NM_001346155.1:c.521T>C, NM_001346156.2:c.2T>G, NM_001346156.2:c.2T>C, NM_001346156.1:c.2T>G, NM_001346156.1:c.2T>C, NM_001352962.2:c.-225T>G, NM_001352962.2:c.-225T>C, NM_001352962.1:c.-225T>G, NM_001352962.1:c.-225T>C, NM_001346157.2:c.2T>G, NM_001346157.2:c.2T>C, NM_001346157.1:c.2T>G, NM_001346157.1:c.2T>C, NR_144380.2:n.607T>G, NR_144380.2:n.607T>C, NR_144380.1:n.646T>G, NR_144380.1:n.646T>C, NR_144382.2:n.404T>G, NR_144382.2:n.404T>C, NR_144382.1:n.443T>G, NR_144382.1:n.443T>C, XM_006718992.4:c.521T>G, XM_006718992.4:c.521T>C, XM_006718992.3:c.521T>G, XM_006718992.3:c.521T>C, XM_006718992.2:c.521T>G, XM_006718992.2:c.521T>C, XM_006718992.1:c.521T>G, XM_006718992.1:c.521T>C, NR_144381.1:n.443T>G, NR_144381.1:n.443T>C, NP_065107.1:p.Met174Arg, NP_065107.1:p.Met174Thr, NP_001291740.1:p.Met174Arg, NP_001291740.1:p.Met174Thr, NP_001333082.1:p.Met174Arg, NP_001333082.1:p.Met174Thr, NP_001333084.1:p.Met174Arg, NP_001333084.1:p.Met174Thr, NP_001333085.1:p.Met1Arg, NP_001333085.1:p.Met1Thr, NP_001333086.1:p.Met1Arg, NP_001333086.1:p.Met1Thr, XP_006719055.1:p.Met174Arg, XP_006719055.1:p.Met174Thr

Select item 147729802110.

rs1477298021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4534166 (GRCh38)
12:4643332 (GRCh37)
Canonical SPDI:: NC_000012.12:4534165:A:G
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4534166A>G, NC_000012.11:g.4643332A>G, NG_051648.1:g.9343T>C, NM_020374.4:c.315T>C, NM_020374.3:c.315T>C, NM_020374.2:c.315T>C, NM_001304811.2:c.315T>C, NM_001304811.1:c.315T>C, NR_144379.2:n.401T>C, NR_144379.1:n.440T>C, NM_001346153.2:c.315T>C, NM_001346153.1:c.315T>C, NM_001346155.2:c.315T>C, NM_001346155.1:c.315T>C, NM_001346156.2:c.-205T>C, NM_001346156.1:c.-205T>C, NM_001352962.2:c.-431T>C, NM_001352962.1:c.-431T>C, NM_001346157.2:c.-205T>C, NM_001346157.1:c.-205T>C, NR_144380.2:n.401T>C, NR_144380.1:n.440T>C, NR_144382.2:n.198T>C, NR_144382.1:n.237T>C, XM_006718992.4:c.315T>C, XM_006718992.3:c.315T>C, XM_006718992.2:c.315T>C, XM_006718992.1:c.315T>C, NR_144381.1:n.237T>C

Select item 147144158811.

rs1471441588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:4529934 (GRCh38)
12:4639100 (GRCh37)
Canonical SPDI:: NC_000012.12:4529933:A:C
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4529934A>C, NC_000012.11:g.4639100A>C, NG_051648.1:g.13575T>G, NM_020374.4:c.441T>G, NM_020374.3:c.441T>G, NM_020374.2:c.441T>G, NM_001304811.2:c.441T>G, NM_001304811.1:c.441T>G, NR_144379.2:n.527T>G, NR_144379.1:n.566T>G, NM_001346153.2:c.441T>G, NM_001346153.1:c.441T>G, NM_001346155.2:c.441T>G, NM_001346155.1:c.441T>G, NM_001346156.2:c.-79T>G, NM_001346156.1:c.-79T>G, NM_001352962.2:c.-305T>G, NM_001352962.1:c.-305T>G, NM_001346157.2:c.-79T>G, NM_001346157.1:c.-79T>G, NR_144380.2:n.527T>G, NR_144380.1:n.566T>G, NR_144382.2:n.324T>G, NR_144382.1:n.363T>G, XM_006718992.4:c.441T>G, XM_006718992.3:c.441T>G, XM_006718992.2:c.441T>G, XM_006718992.1:c.441T>G, NR_144381.1:n.363T>G, NP_065107.1:p.Asn147Lys, NP_001291740.1:p.Asn147Lys, NP_001333082.1:p.Asn147Lys, NP_001333084.1:p.Asn147Lys, XP_006719055.1:p.Asn147Lys

Select item 147108142612.

rs1471081426 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAG [Show Flanks]
Chromosome:: 12:4525353 (GRCh38)
12:4634520 (GRCh37)
Canonical SPDI:: NC_000012.12:4525353::ATAG
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000012.12:g.4525353_4525354insATAG, NC_000012.11:g.4634519_4634520insATAG, NG_051648.1:g.18155_18156insCTAT, NM_020374.4:c.628_629insCTAT, NM_020374.3:c.628_629insCTAT, NM_020374.2:c.628_629insCTAT, NM_001304811.2:c.628_629insCTAT, NM_001304811.1:c.628_629insCTAT, NR_144379.2:n.714_715insCTAT, NR_144379.1:n.753_754insCTAT, NM_001346153.2:c.628_629insCTAT, NM_001346153.1:c.628_629insCTAT, NM_001346155.2:c.628_629insCTAT, NM_001346155.1:c.628_629insCTAT, NM_001346156.2:c.109_110insCTAT, NM_001346156.1:c.109_110insCTAT, NM_001352962.2:c.-118_-117insCTAT, NM_001352962.1:c.-118_-117insCTAT, NM_001346157.2:c.109_110insCTAT, NM_001346157.1:c.109_110insCTAT, NR_144380.2:n.714_715insCTAT, NR_144380.1:n.753_754insCTAT, NR_144382.2:n.511_512insCTAT, NR_144382.1:n.550_551insCTAT, XM_006718992.4:c.628_629insCTAT, XM_006718992.3:c.628_629insCTAT, XM_006718992.2:c.628_629insCTAT, XM_006718992.1:c.628_629insCTAT, NR_144381.1:n.550_551insCTAT, NP_065107.1:p.Asn210fs, NP_001291740.1:p.Asn210fs, NP_001333082.1:p.Asn210fs, NP_001333084.1:p.Asn210fs, NP_001333085.1:p.Asn37fs, NP_001333086.1:p.Asn37fs, XP_006719055.1:p.Asn210fs

Select item 147107176913.

rs1471071769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:4536030 (GRCh38)
12:4645196 (GRCh37)
Canonical SPDI:: NC_000012.12:4536029:G:C
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4536030G>C, NC_000012.11:g.4645196G>C, NG_051648.1:g.7479C>G, NM_020374.4:c.165C>G, NM_020374.3:c.165C>G, NM_020374.2:c.165C>G, NM_001304811.2:c.165C>G, NM_001304811.1:c.165C>G, NR_144379.2:n.251C>G, NR_144379.1:n.290C>G, NM_001346153.2:c.165C>G, NM_001346153.1:c.165C>G, NM_001346155.2:c.165C>G, NM_001346155.1:c.165C>G, NR_144380.2:n.251C>G, NR_144380.1:n.290C>G, XM_006718992.4:c.165C>G, XM_006718992.3:c.165C>G, XM_006718992.2:c.165C>G, XM_006718992.1:c.165C>G, NP_065107.1:p.Cys55Trp, NP_001291740.1:p.Cys55Trp, NP_001333082.1:p.Cys55Trp, NP_001333084.1:p.Cys55Trp, XP_006719055.1:p.Cys55Trp

Select item 146896377314.

rs1468963773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:4518826 (GRCh38)
12:4627992 (GRCh37)
Canonical SPDI:: NC_000012.12:4518825:T:A
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.4518826T>A, NC_000012.11:g.4627992T>A, NG_051648.1:g.24683A>T, NM_020374.4:c.783A>T, NM_020374.3:c.783A>T, NM_020374.2:c.783A>T, NM_001304811.2:c.783A>T, NM_001304811.1:c.783A>T, NM_001346153.2:c.783A>T, NM_001346153.1:c.783A>T, NM_001346155.2:c.783A>T, NM_001346155.1:c.783A>T, NM_001346156.2:c.264A>T, NM_001346156.1:c.264A>T, NM_001346157.2:c.264A>T, NM_001346157.1:c.264A>T, XM_006718992.4:c.783A>T, XM_006718992.3:c.783A>T, XM_006718992.2:c.783A>T, XM_006718992.1:c.783A>T

Select item 146877249515.

rs1468772495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4518108 (GRCh38)
12:4627274 (GRCh37)
Canonical SPDI:: NC_000012.12:4518107:A:G
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000032/8 (GnomAD_exomes)
G=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.4518108A>G, NC_000012.11:g.4627274A>G, NG_051648.1:g.25401T>C, NM_020374.4:c.983T>C, NM_020374.3:c.983T>C, NM_020374.2:c.983T>C, NM_001304811.2:c.983T>C, NM_001304811.1:c.983T>C, NR_144379.2:n.962T>C, NR_144379.1:n.1001T>C, NM_001346153.2:c.983T>C, NM_001346153.1:c.983T>C, NM_001346155.2:c.983T>C, NM_001346155.1:c.983T>C, NM_001346156.2:c.464T>C, NM_001346156.1:c.464T>C, NM_001352962.2:c.131T>C, NM_001352962.1:c.131T>C, NM_001346157.2:c.464T>C, NM_001346157.1:c.464T>C, XM_006718992.4:c.983T>C, XM_006718992.3:c.983T>C, XM_006718992.2:c.983T>C, XM_006718992.1:c.983T>C, NR_144381.1:n.798T>C, NP_065107.1:p.Leu328Pro, NP_001291740.1:p.Leu328Pro, NP_001333082.1:p.Leu328Pro, NP_001333084.1:p.Leu328Pro, NP_001333085.1:p.Leu155Pro, NP_001339891.1:p.Leu44Pro, NP_001333086.1:p.Leu155Pro, XP_006719055.1:p.Leu328Pro

Select item 146308633816.

rs1463086338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4518817 (GRCh38)
12:4627983 (GRCh37)
Canonical SPDI:: NC_000012.12:4518816:A:G
Gene:: C12orf4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.4518817A>G, NC_000012.11:g.4627983A>G, NG_051648.1:g.24692T>C, NM_020374.4:c.792T>C, NM_020374.3:c.792T>C, NM_020374.2:c.792T>C, NM_001304811.2:c.792T>C, NM_001304811.1:c.792T>C, NM_001346153.2:c.792T>C, NM_001346153.1:c.792T>C, NM_001346155.2:c.792T>C, NM_001346155.1:c.792T>C, NM_001346156.2:c.273T>C, NM_001346156.1:c.273T>C, NM_001346157.2:c.273T>C, NM_001346157.1:c.273T>C, XM_006718992.4:c.792T>C, XM_006718992.3:c.792T>C, XM_006718992.2:c.792T>C, XM_006718992.1:c.792T>C

Select item 145988422017.

rs1459884220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:4500224 (GRCh38)
12:4609390 (GRCh37)
Canonical SPDI:: NC_000012.12:4500223:C:T
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.4500224C>T, NC_000012.11:g.4609390C>T, NG_051648.1:g.43285G>A, NM_020374.4:c.1354G>A, NM_020374.3:c.1354G>A, NM_020374.2:c.1354G>A, NM_001304811.2:c.1354G>A, NM_001304811.1:c.1354G>A, NR_144379.2:n.1333G>A, NR_144379.1:n.1372G>A, NM_001346153.2:c.1225G>A, NM_001346153.1:c.1225G>A, NM_001346155.2:c.1225G>A, NM_001346155.1:c.1225G>A, NM_001346156.2:c.835G>A, NM_001346156.1:c.835G>A, NM_001352962.2:c.502G>A, NM_001352962.1:c.502G>A, NM_001346157.2:c.706G>A, NM_001346157.1:c.706G>A, NR_144380.2:n.1006G>A, NR_144380.1:n.1045G>A, NR_144382.2:n.803G>A, NR_144382.1:n.842G>A, NR_144381.1:n.1169G>A, NP_065107.1:p.Gly452Arg, NP_001291740.1:p.Gly452Arg, NP_001333082.1:p.Gly409Arg, NP_001333084.1:p.Gly409Arg, NP_001333085.1:p.Gly279Arg, NP_001339891.1:p.Gly168Arg, NP_001333086.1:p.Gly236Arg

Select item 145931242718.

rs1459312427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:4500238 (GRCh38)
12:4609404 (GRCh37)
Canonical SPDI:: NC_000012.12:4500237:T:C
Gene:: C12orf4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4500238T>C, NC_000012.11:g.4609404T>C, NG_051648.1:g.43271A>G, NM_020374.4:c.1340A>G, NM_020374.3:c.1340A>G, NM_020374.2:c.1340A>G, NM_001304811.2:c.1340A>G, NM_001304811.1:c.1340A>G, NR_144379.2:n.1319A>G, NR_144379.1:n.1358A>G, NM_001346153.2:c.1211A>G, NM_001346153.1:c.1211A>G, NM_001346155.2:c.1211A>G, NM_001346155.1:c.1211A>G, NM_001346156.2:c.821A>G, NM_001346156.1:c.821A>G, NM_001352962.2:c.488A>G, NM_001352962.1:c.488A>G, NM_001346157.2:c.692A>G, NM_001346157.1:c.692A>G, NR_144380.2:n.992A>G, NR_144380.1:n.1031A>G, NR_144382.2:n.789A>G, NR_144382.1:n.828A>G, NR_144381.1:n.1155A>G, NP_065107.1:p.Asp447Gly, NP_001291740.1:p.Asp447Gly, NP_001333082.1:p.Asp404Gly, NP_001333084.1:p.Asp404Gly, NP_001333085.1:p.Asp274Gly, NP_001339891.1:p.Asp163Gly, NP_001333086.1:p.Asp231Gly

Select item 145911553719.

rs1459115537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:4518237 (GRCh38)
12:4627403 (GRCh37)
Canonical SPDI:: NC_000012.12:4518236:A:G
Gene:: C12orf4 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,initiator_codon_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.4518237A>G, NC_000012.11:g.4627403A>G, NG_051648.1:g.25272T>C, NM_020374.4:c.854T>C, NM_020374.3:c.854T>C, NM_020374.2:c.854T>C, NM_001304811.2:c.854T>C, NM_001304811.1:c.854T>C, NR_144379.2:n.833T>C, NR_144379.1:n.872T>C, NM_001346153.2:c.854T>C, NM_001346153.1:c.854T>C, NM_001346155.2:c.854T>C, NM_001346155.1:c.854T>C, NM_001346156.2:c.335T>C, NM_001346156.1:c.335T>C, NM_001352962.2:c.2T>C, NM_001352962.1:c.2T>C, NM_001346157.2:c.335T>C, NM_001346157.1:c.335T>C, XM_006718992.4:c.854T>C, XM_006718992.3:c.854T>C, XM_006718992.2:c.854T>C, XM_006718992.1:c.854T>C, NR_144381.1:n.669T>C, NP_065107.1:p.Met285Thr, NP_001291740.1:p.Met285Thr, NP_001333082.1:p.Met285Thr, NP_001333084.1:p.Met285Thr, NP_001333085.1:p.Met112Thr, NP_001339891.1:p.Met1Thr, NP_001333086.1:p.Met112Thr, XP_006719055.1:p.Met285Thr

Select item 145895214320.

rs1458952143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:4518836 (GRCh38)
12:4628002 (GRCh37)
Canonical SPDI:: NC_000012.12:4518835:T:C
Gene:: C12orf4 (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=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.4518836T>C, NC_000012.11:g.4628002T>C, NG_051648.1:g.24673A>G, NM_020374.4:c.773A>G, NM_020374.3:c.773A>G, NM_020374.2:c.773A>G, NM_001304811.2:c.773A>G, NM_001304811.1:c.773A>G, NM_001346153.2:c.773A>G, NM_001346153.1:c.773A>G, NM_001346155.2:c.773A>G, NM_001346155.1:c.773A>G, NM_001346156.2:c.254A>G, NM_001346156.1:c.254A>G, NM_001346157.2:c.254A>G, NM_001346157.1:c.254A>G, XM_006718992.4:c.773A>G, XM_006718992.3:c.773A>G, XM_006718992.2:c.773A>G, XM_006718992.1:c.773A>G, NP_065107.1:p.Glu258Gly, NP_001291740.1:p.Glu258Gly, NP_001333082.1:p.Glu258Gly, NP_001333084.1:p.Glu258Gly, NP_001333085.1:p.Glu85Gly, NP_001333086.1:p.Glu85Gly, XP_006719055.1:p.Glu258Gly

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