SNP Links for Protein (Select 767926670) - SNP

Links from Protein

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Select item 14906949131.

rs1490694913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:149790839 (GRCh38)
3:149508626 (GRCh37)
Canonical SPDI:: NC_000003.12:149790838:C:T
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149790839C>T, NC_000003.11:g.149508626C>T, NG_083162.1:g.699C>T, NM_001144960.3:c.176G>A, NM_001144960.2:c.176G>A, NM_001144960.1:c.176G>A, NM_001315506.2:c.176G>A, NM_001315506.1:c.176G>A, XM_011512798.2:c.29G>A, XM_011512798.1:c.29G>A, NM_001315505.2:c.-181G>A, NM_001315505.1:c.-181G>A, XM_011512799.2:c.176G>A, XM_011512799.1:c.176G>A, XM_011512801.2:c.-106G>A, XM_011512801.1:c.-106G>A, NP_001138432.1:p.Ser59Asn, NP_001302435.1:p.Ser59Asn, XP_011511100.1:p.Ser10Asn, XP_011511101.1:p.Ser59Asn

Select item 14899208102.

rs1489920810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGCAGTTTGTTTGCTGC [Show Flanks]
Chromosome:: 3:149767496 (GRCh38)
3:149485284 (GRCh37)
Canonical SPDI:: NC_000003.12:149767496:GTTTGCTGC:GTTTGCTGCCTGCAGTTTGTTTGCTGC
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: GTTTGCTGCCTGCAGTTTGTTTGCTGC=0.000071/1 (ALFA)
GTTTGCTGCCTGCAGTTT=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.149767505_149767506insCTGCAGTTTGTTTGCTGC, NC_000003.11:g.149485292_149485293insCTGCAGTTTGTTTGCTGC, NM_001144960.3:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], NM_001144960.2:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], NM_001144960.1:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], NM_001315506.2:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], NM_001315506.1:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], XM_011512798.2:c.1010_1018GCA[2]AACAAACTGCAGGCAGCAAAC[1], XM_011512798.1:c.1010_1018GCA[2]AACAAACTGCAGGCAGCAAAC[1], NM_001315505.2:c.719_727GCA[2]AACAAACTGCAGGCAGCAAAC[1], NM_001315505.1:c.719_727GCA[2]AACAAACTGCAGGCAGCAAAC[1], XM_011512799.2:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], XM_011512799.1:c.1157_1165GCA[2]AACAAACTGCAGGCAGCAAAC[1], XM_011512801.2:c.659_667GCA[2]AACAAACTGCAGGCAGCAAAC[1], XM_011512801.1:c.659_667GCA[2]AACAAACTGCAGGCAGCAAAC[1], NP_001138432.1:p.Pro389_Val390insGlnThrAlaGlySerLys, NP_001302435.1:p.Pro389_Val390insGlnThrAlaGlySerLys, XP_011511100.1:p.Pro340_Val341insGlnThrAlaGlySerLys, NP_001302434.1:p.Pro243_Val244insGlnThrAlaGlySerLys, XP_011511101.1:p.Pro389_Val390insGlnThrAlaGlySerLys, XP_011511103.1:p.Pro223_Val224insGlnThrAlaGlySerLys

Select item 14842869883.

rs1484286988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:149767514 (GRCh38)
3:149485301 (GRCh37)
Canonical SPDI:: NC_000003.12:149767513:T:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149767514T>G, NC_000003.11:g.149485301T>G, NM_001144960.3:c.1148A>C, NM_001144960.2:c.1148A>C, NM_001144960.1:c.1148A>C, NM_001315506.2:c.1148A>C, NM_001315506.1:c.1148A>C, XM_011512798.2:c.1001A>C, XM_011512798.1:c.1001A>C, NM_001315505.2:c.710A>C, NM_001315505.1:c.710A>C, XM_011512799.2:c.1148A>C, XM_011512799.1:c.1148A>C, XM_011512801.2:c.650A>C, XM_011512801.1:c.650A>C, NP_001138432.1:p.Gln383Pro, NP_001302435.1:p.Gln383Pro, XP_011511100.1:p.Gln334Pro, NP_001302434.1:p.Gln237Pro, XP_011511101.1:p.Gln383Pro, XP_011511103.1:p.Gln217Pro

Select item 14840577814.

rs1484057781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:149767605 (GRCh38)
3:149485392 (GRCh37)
Canonical SPDI:: NC_000003.12:149767604:T:C
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149767605T>C, NC_000003.11:g.149485392T>C, NM_001144960.3:c.1057A>G, NM_001144960.2:c.1057A>G, NM_001144960.1:c.1057A>G, NM_001315506.2:c.1057A>G, NM_001315506.1:c.1057A>G, XM_011512798.2:c.910A>G, XM_011512798.1:c.910A>G, NM_001315505.2:c.619A>G, NM_001315505.1:c.619A>G, XM_011512799.2:c.1057A>G, XM_011512799.1:c.1057A>G, XM_011512801.2:c.559A>G, XM_011512801.1:c.559A>G, NP_001138432.1:p.Thr353Ala, NP_001302435.1:p.Thr353Ala, XP_011511100.1:p.Thr304Ala, NP_001302434.1:p.Thr207Ala, XP_011511101.1:p.Thr353Ala, XP_011511103.1:p.Thr187Ala

Select item 14830828505.

rs1483082850 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:149792343 (GRCh38)
3:149510130 (GRCh37)
Canonical SPDI:: NC_000003.12:149792342:TT:T
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149792344del, NC_000003.11:g.149510131del, NM_001144960.3:c.24del, NM_001144960.2:c.24del, NM_001144960.1:c.24del, NM_001315506.2:c.24del, NM_001315506.1:c.24del, XM_011512798.2:c.-96del, XM_011512798.1:c.-96del, NM_001315505.2:c.-305del, NM_001315505.1:c.-305del, XM_011512799.2:c.24del, XM_011512799.1:c.24del, NP_001138432.1:p.Gly9fs, NP_001302435.1:p.Gly9fs, XP_011511101.1:p.Gly9fs

Select item 14826312776.

rs1482631277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:149767174 (GRCh38)
3:149484961 (GRCh37)
Canonical SPDI:: NC_000003.12:149767173:G:A
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.149767174G>A, NC_000003.11:g.149484961G>A, NM_001144960.3:c.1488C>T, NM_001144960.2:c.1488C>T, NM_001144960.1:c.1488C>T, NM_001315506.2:c.1488C>T, NM_001315506.1:c.1488C>T, XM_011512798.2:c.1341C>T, XM_011512798.1:c.1341C>T, NM_001315505.2:c.1050C>T, NM_001315505.1:c.1050C>T, XM_011512799.2:c.1268C>T, XM_011512799.1:c.1268C>T, XM_011512801.2:c.990C>T, XM_011512801.1:c.990C>T, XP_011511101.1:p.Thr423Ile

Select item 14811288037.

rs1481128803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:149767836 (GRCh38)
3:149485623 (GRCh37)
Canonical SPDI:: NC_000003.12:149767835:T:C,NC_000003.12:149767835:T:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.149767836T>C, NC_000003.12:g.149767836T>G, NC_000003.11:g.149485623T>C, NC_000003.11:g.149485623T>G, NM_001144960.3:c.826A>G, NM_001144960.3:c.826A>C, NM_001144960.2:c.826A>G, NM_001144960.2:c.826A>C, NM_001144960.1:c.826A>G, NM_001144960.1:c.826A>C, NM_001315506.2:c.826A>G, NM_001315506.2:c.826A>C, NM_001315506.1:c.826A>G, NM_001315506.1:c.826A>C, XM_011512798.2:c.679A>G, XM_011512798.2:c.679A>C, XM_011512798.1:c.679A>G, XM_011512798.1:c.679A>C, NM_001315505.2:c.388A>G, NM_001315505.2:c.388A>C, NM_001315505.1:c.388A>G, NM_001315505.1:c.388A>C, XM_011512799.2:c.826A>G, XM_011512799.2:c.826A>C, XM_011512799.1:c.826A>G, XM_011512799.1:c.826A>C, XM_011512801.2:c.328A>G, XM_011512801.2:c.328A>C, XM_011512801.1:c.328A>G, XM_011512801.1:c.328A>C, NP_001138432.1:p.Thr276Ala, NP_001138432.1:p.Thr276Pro, NP_001302435.1:p.Thr276Ala, NP_001302435.1:p.Thr276Pro, XP_011511100.1:p.Thr227Ala, XP_011511100.1:p.Thr227Pro, NP_001302434.1:p.Thr130Ala, NP_001302434.1:p.Thr130Pro, XP_011511101.1:p.Thr276Ala, XP_011511101.1:p.Thr276Pro, XP_011511103.1:p.Thr110Ala, XP_011511103.1:p.Thr110Pro

Select item 14800838408.

rs1480083840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149780319 (GRCh38)
3:149498106 (GRCh37)
Canonical SPDI:: NC_000003.12:149780318:A:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,splice_donor_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149780319A>G, NC_000003.11:g.149498106A>G, NM_001144960.3:c.371T>C, NM_001144960.2:c.371T>C, NM_001144960.1:c.371T>C, NM_001315506.2:c.371T>C, NM_001315506.1:c.371T>C, XM_011512798.2:c.224T>C, XM_011512798.1:c.224T>C, XM_011512799.2:c.371T>C, XM_011512799.1:c.371T>C, NP_001138432.1:p.Val124Ala, NP_001302435.1:p.Val124Ala, XP_011511100.1:p.Val75Ala, XP_011511101.1:p.Val124Ala

Select item 14799634549.

rs1479963454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:149767870 (GRCh38)
3:149485657 (GRCh37)
Canonical SPDI:: NC_000003.12:149767869:C:T
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.149767870C>T, NC_000003.11:g.149485657C>T, NM_001144960.3:c.792G>A, NM_001144960.2:c.792G>A, NM_001144960.1:c.792G>A, NM_001315506.2:c.792G>A, NM_001315506.1:c.792G>A, XM_011512798.2:c.645G>A, XM_011512798.1:c.645G>A, NM_001315505.2:c.354G>A, NM_001315505.1:c.354G>A, XM_011512799.2:c.792G>A, XM_011512799.1:c.792G>A, XM_011512801.2:c.294G>A, XM_011512801.1:c.294G>A

Select item 147960992510.

rs1479609925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:149767584 (GRCh38)
3:149485371 (GRCh37)
Canonical SPDI:: NC_000003.12:149767583:T:A
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.149767584T>A, NC_000003.11:g.149485371T>A, NM_001144960.3:c.1078A>T, NM_001144960.2:c.1078A>T, NM_001144960.1:c.1078A>T, NM_001315506.2:c.1078A>T, NM_001315506.1:c.1078A>T, XM_011512798.2:c.931A>T, XM_011512798.1:c.931A>T, NM_001315505.2:c.640A>T, NM_001315505.1:c.640A>T, XM_011512799.2:c.1078A>T, XM_011512799.1:c.1078A>T, XM_011512801.2:c.580A>T, XM_011512801.1:c.580A>T, NP_001138432.1:p.Lys360Ter, NP_001302435.1:p.Lys360Ter, XP_011511100.1:p.Lys311Ter, NP_001302434.1:p.Lys214Ter, XP_011511101.1:p.Lys360Ter, XP_011511103.1:p.Lys194Ter

Select item 147566830111.

rs1475668301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149767723 (GRCh38)
3:149485510 (GRCh37)
Canonical SPDI:: NC_000003.12:149767722:A:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.149767723A>G, NC_000003.11:g.149485510A>G, NM_001144960.3:c.939T>C, NM_001144960.2:c.939T>C, NM_001144960.1:c.939T>C, NM_001315506.2:c.939T>C, NM_001315506.1:c.939T>C, XM_011512798.2:c.792T>C, XM_011512798.1:c.792T>C, NM_001315505.2:c.501T>C, NM_001315505.1:c.501T>C, XM_011512799.2:c.939T>C, XM_011512799.1:c.939T>C, XM_011512801.2:c.441T>C, XM_011512801.1:c.441T>C

Select item 147545483612.

rs1475454836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:149780430 (GRCh38)
3:149498217 (GRCh37)
Canonical SPDI:: NC_000003.12:149780429:A:T
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149780430A>T, NC_000003.11:g.149498217A>T, NM_001144960.3:c.260T>A, NM_001144960.2:c.260T>A, NM_001144960.1:c.260T>A, NM_001315506.2:c.260T>A, NM_001315506.1:c.260T>A, XM_011512798.2:c.113T>A, XM_011512798.1:c.113T>A, NM_001315505.2:c.-97T>A, NM_001315505.1:c.-97T>A, XM_011512799.2:c.260T>A, XM_011512799.1:c.260T>A, NP_001138432.1:p.Val87Glu, NP_001302435.1:p.Val87Glu, XP_011511100.1:p.Val38Glu, XP_011511101.1:p.Val87Glu

Select item 147362539213.

rs1473625392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:149767533 (GRCh38)
3:149485320 (GRCh37)
Canonical SPDI:: NC_000003.12:149767532:G:T
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149767533G>T, NC_000003.11:g.149485320G>T, NM_001144960.3:c.1129C>A, NM_001144960.2:c.1129C>A, NM_001144960.1:c.1129C>A, NM_001315506.2:c.1129C>A, NM_001315506.1:c.1129C>A, XM_011512798.2:c.982C>A, XM_011512798.1:c.982C>A, NM_001315505.2:c.691C>A, NM_001315505.1:c.691C>A, XM_011512799.2:c.1129C>A, XM_011512799.1:c.1129C>A, XM_011512801.2:c.631C>A, XM_011512801.1:c.631C>A, NP_001138432.1:p.Leu377Ile, NP_001302435.1:p.Leu377Ile, XP_011511100.1:p.Leu328Ile, NP_001302434.1:p.Leu231Ile, XP_011511101.1:p.Leu377Ile, XP_011511103.1:p.Leu211Ile

Select item 147329483814.

rs1473294838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:149780333 (GRCh38)
3:149498120 (GRCh37)
Canonical SPDI:: NC_000003.12:149780332:T:C,NC_000003.12:149780332:T:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.149780333T>C, NC_000003.12:g.149780333T>G, NC_000003.11:g.149498120T>C, NC_000003.11:g.149498120T>G, NM_001144960.3:c.357A>G, NM_001144960.3:c.357A>C, NM_001144960.2:c.357A>G, NM_001144960.2:c.357A>C, NM_001144960.1:c.357A>G, NM_001144960.1:c.357A>C, NM_001315506.2:c.357A>G, NM_001315506.2:c.357A>C, NM_001315506.1:c.357A>G, NM_001315506.1:c.357A>C, XM_011512798.2:c.210A>G, XM_011512798.2:c.210A>C, XM_011512798.1:c.210A>G, XM_011512798.1:c.210A>C, NM_001315505.2:c.1A>G, NM_001315505.2:c.1A>C, NM_001315505.1:c.1A>G, NM_001315505.1:c.1A>C, XM_011512799.2:c.357A>G, XM_011512799.2:c.357A>C, XM_011512799.1:c.357A>G, XM_011512799.1:c.357A>C, NP_001138432.1:p.Arg119Ser, NP_001302435.1:p.Arg119Ser, XP_011511100.1:p.Arg70Ser, NP_001302434.1:p.Met1Val, NP_001302434.1:p.Met1Leu, XP_011511101.1:p.Arg119Ser

Select item 147293764615.

rs1472937646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:149767709 (GRCh38)
3:149485496 (GRCh37)
Canonical SPDI:: NC_000003.12:149767708:T:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.149767709T>G, NC_000003.11:g.149485496T>G, NM_001144960.3:c.953A>C, NM_001144960.2:c.953A>C, NM_001144960.1:c.953A>C, NM_001315506.2:c.953A>C, NM_001315506.1:c.953A>C, XM_011512798.2:c.806A>C, XM_011512798.1:c.806A>C, NM_001315505.2:c.515A>C, NM_001315505.1:c.515A>C, XM_011512799.2:c.953A>C, XM_011512799.1:c.953A>C, XM_011512801.2:c.455A>C, XM_011512801.1:c.455A>C, NP_001138432.1:p.Gln318Pro, NP_001302435.1:p.Gln318Pro, XP_011511100.1:p.Gln269Pro, NP_001302434.1:p.Gln172Pro, XP_011511101.1:p.Gln318Pro, XP_011511103.1:p.Gln152Pro

Select item 147071634316.

rs1470716343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149767974 (GRCh38)
3:149485761 (GRCh37)
Canonical SPDI:: NC_000003.12:149767973:A:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149767974A>G, NC_000003.11:g.149485761A>G, NM_001144960.3:c.688T>C, NM_001144960.2:c.688T>C, NM_001144960.1:c.688T>C, NM_001315506.2:c.688T>C, NM_001315506.1:c.688T>C, XM_011512798.2:c.541T>C, XM_011512798.1:c.541T>C, NM_001315505.2:c.250T>C, NM_001315505.1:c.250T>C, XM_011512799.2:c.688T>C, XM_011512799.1:c.688T>C, XM_011512801.2:c.190T>C, XM_011512801.1:c.190T>C, NP_001138432.1:p.Trp230Arg, NP_001302435.1:p.Trp230Arg, XP_011511100.1:p.Trp181Arg, NP_001302434.1:p.Trp84Arg, XP_011511101.1:p.Trp230Arg, XP_011511103.1:p.Trp64Arg

Select item 146782668217.

rs1467826682 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGAGTTTGTCCTGCTGCATTTT>- [Show Flanks]
Chromosome:: 3:149767831 (GRCh38)
3:149485618 (GRCh37)
Canonical SPDI:: NC_000003.12:149767830:GGGAGTTTGTCCTGCTGCATTTT:
Gene:: ANKUB1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.149767831_149767853del, NC_000003.11:g.149485618_149485640del, NM_001144960.3:c.809_831del, NM_001144960.2:c.809_831del, NM_001144960.1:c.809_831del, NM_001315506.2:c.809_831del, NM_001315506.1:c.809_831del, XM_011512798.2:c.662_684del, XM_011512798.1:c.662_684del, NM_001315505.2:c.371_393del, NM_001315505.1:c.371_393del, XM_011512799.2:c.809_831del, XM_011512799.1:c.809_831del, XM_011512801.2:c.311_333del, XM_011512801.1:c.311_333del, NP_001138432.1:p.Lys270fs, NP_001302435.1:p.Lys270fs, XP_011511100.1:p.Lys221fs, NP_001302434.1:p.Lys124fs, XP_011511101.1:p.Lys270fs, XP_011511103.1:p.Lys104fs

Select item 146425060218.

rs1464250602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:149767715 (GRCh38)
3:149485502 (GRCh37)
Canonical SPDI:: NC_000003.12:149767714:A:C
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149767715A>C, NC_000003.11:g.149485502A>C, NM_001144960.3:c.947T>G, NM_001144960.2:c.947T>G, NM_001144960.1:c.947T>G, NM_001315506.2:c.947T>G, NM_001315506.1:c.947T>G, XM_011512798.2:c.800T>G, XM_011512798.1:c.800T>G, NM_001315505.2:c.509T>G, NM_001315505.1:c.509T>G, XM_011512799.2:c.947T>G, XM_011512799.1:c.947T>G, XM_011512801.2:c.449T>G, XM_011512801.1:c.449T>G, NP_001138432.1:p.Ile316Arg, NP_001302435.1:p.Ile316Arg, XP_011511100.1:p.Ile267Arg, NP_001302434.1:p.Ile170Arg, XP_011511101.1:p.Ile316Arg, XP_011511103.1:p.Ile150Arg

Select item 146297227019.

rs1462972270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149792347 (GRCh38)
3:149510134 (GRCh37)
Canonical SPDI:: NC_000003.12:149792346:A:G
Gene:: ANKUB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149792347A>G, NC_000003.11:g.149510134A>G, NM_001144960.3:c.20T>C, NM_001144960.2:c.20T>C, NM_001144960.1:c.20T>C, NM_001315506.2:c.20T>C, NM_001315506.1:c.20T>C, XM_011512798.2:c.-100T>C, XM_011512798.1:c.-100T>C, NM_001315505.2:c.-309T>C, NM_001315505.1:c.-309T>C, XM_011512799.2:c.20T>C, XM_011512799.1:c.20T>C, NP_001138432.1:p.Phe7Ser, NP_001302435.1:p.Phe7Ser, XP_011511101.1:p.Phe7Ser

Select item 146230792820.

rs1462307928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:149767958 (GRCh38)
3:149485745 (GRCh37)
Canonical SPDI:: NC_000003.12:149767957:A:C
Gene:: ANKUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149767958A>C, NC_000003.11:g.149485745A>C, NM_001144960.3:c.704T>G, NM_001144960.2:c.704T>G, NM_001144960.1:c.704T>G, NM_001315506.2:c.704T>G, NM_001315506.1:c.704T>G, XM_011512798.2:c.557T>G, XM_011512798.1:c.557T>G, NM_001315505.2:c.266T>G, NM_001315505.1:c.266T>G, XM_011512799.2:c.704T>G, XM_011512799.1:c.704T>G, XM_011512801.2:c.206T>G, XM_011512801.1:c.206T>G, NP_001138432.1:p.Leu235Arg, NP_001302435.1:p.Leu235Arg, XP_011511100.1:p.Leu186Arg, NP_001302434.1:p.Leu89Arg, XP_011511101.1:p.Leu235Arg, XP_011511103.1:p.Leu69Arg

dbSNP

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