SNP Links for Protein (Select 767916482) - SNP

Links from Protein

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Select item 14859571191.

rs1485957119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154446585 (GRCh38)
2:155303097 (GRCh37)
Canonical SPDI:: NC_000002.12:154446584:T:C
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154446585T>C, NC_000002.11:g.155303097T>C, XM_011510538.3:c.1005T>C, XM_011510538.2:c.1005T>C, XM_011510538.1:c.1005T>C, NM_001376404.1:c.1548T>C, NM_001376403.1:c.1548T>C, XM_047443116.1:c.1548T>C, XM_047443121.1:c.1005T>C

Select item 14840244102.

rs1484024410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:154259089 (GRCh38)
2:155115602 (GRCh37)
Canonical SPDI:: NC_000002.12:154259088:A:G
Gene:: GALNT13 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154259089A>G, NC_000002.11:g.155115602A>G, NM_052917.4:c.926A>G, NM_052917.3:c.926A>G, NM_052917.2:c.926A>G, XM_011510538.3:c.383A>G, XM_011510538.2:c.383A>G, XM_011510538.1:c.383A>G, NM_001301627.2:c.926A>G, NM_001301627.1:c.926A>G, NM_001376402.1:c.926A>G, NM_001376401.1:c.926A>G, NM_001376400.1:c.926A>G, NM_001376398.1:c.926A>G, NM_001376394.1:c.926A>G, NM_001376404.1:c.926A>G, NM_001376403.1:c.926A>G, NM_001376392.1:c.926A>G, XM_047443120.1:c.926A>G, XM_047443116.1:c.926A>G, XM_047443121.1:c.383A>G, NP_443149.2:p.Asp309Gly, XP_011508840.1:p.Asp128Gly, NP_001288556.1:p.Asp309Gly, NP_001363331.1:p.Asp309Gly, NP_001363330.1:p.Asp309Gly, NP_001363329.1:p.Asp309Gly, NP_001363327.1:p.Asp309Gly, NP_001363323.1:p.Asp309Gly, NP_001363333.1:p.Asp309Gly, NP_001363332.1:p.Asp309Gly, NP_001363321.1:p.Asp309Gly, XP_047299076.1:p.Asp309Gly, XP_047299072.1:p.Asp309Gly, XP_047299077.1:p.Asp128Gly

Select item 14823751163.

rs1482375116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:154446666 (GRCh38)
2:155303178 (GRCh37)
Canonical SPDI:: NC_000002.12:154446665:C:A,NC_000002.12:154446665:C:T
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.154446666C>A, NC_000002.12:g.154446666C>T, NC_000002.11:g.155303178C>A, NC_000002.11:g.155303178C>T, XM_011510538.3:c.1086C>A, XM_011510538.3:c.1086C>T, XM_011510538.2:c.1086C>A, XM_011510538.2:c.1086C>T, XM_011510538.1:c.1086C>A, XM_011510538.1:c.1086C>T, NM_001301627.2:c.1599C>A, NM_001301627.2:c.1599C>T, NM_001301627.1:c.1599C>A, NM_001301627.1:c.1599C>T, NM_001376404.1:c.1629C>A, NM_001376404.1:c.1629C>T, NM_001376403.1:c.1629C>A, NM_001376403.1:c.1629C>T, XM_047443116.1:c.1629C>A, XM_047443116.1:c.1629C>T, XM_047443121.1:c.1086C>A, XM_047443121.1:c.1086C>T, XP_011508840.1:p.Ser362Arg, NP_001288556.1:p.Ser533Arg, NP_001363333.1:p.Ser543Arg, NP_001363332.1:p.Ser543Arg, XP_047299072.1:p.Ser543Arg, XP_047299077.1:p.Ser362Arg

Select item 14814542914.

rs1481454291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154446663 (GRCh38)
2:155303175 (GRCh37)
Canonical SPDI:: NC_000002.12:154446662:T:C
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.154446663T>C, NC_000002.11:g.155303175T>C, XM_011510538.3:c.1083T>C, XM_011510538.2:c.1083T>C, XM_011510538.1:c.1083T>C, NM_001301627.2:c.1596T>C, NM_001301627.1:c.1596T>C, NM_001376404.1:c.1626T>C, NM_001376403.1:c.1626T>C, XM_047443116.1:c.1626T>C, XM_047443121.1:c.1083T>C

Select item 14791521945.

rs1479152194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:154396104 (GRCh38)
2:155252616 (GRCh37)
Canonical SPDI:: NC_000002.12:154396103:C:G
Gene:: GALNT13 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154396104C>G, NC_000002.11:g.155252616C>G, NM_052917.4:c.1270C>G, NM_052917.3:c.1270C>G, NM_052917.2:c.1270C>G, XM_011510538.3:c.727C>G, XM_011510538.2:c.727C>G, XM_011510538.1:c.727C>G, NM_001301627.2:c.1270C>G, NM_001301627.1:c.1270C>G, NM_001376402.1:c.1270C>G, NM_001376401.1:c.1270C>G, NM_001376400.1:c.1270C>G, NM_001376398.1:c.1270C>G, NM_001376394.1:c.1270C>G, NM_001376404.1:c.1270C>G, NM_001376403.1:c.1270C>G, NM_001376392.1:c.1270C>G, XM_047443120.1:c.1270C>G, XM_047443116.1:c.1270C>G, XR_007069045.1:n.1710C>G, XM_047443121.1:c.727C>G, NP_443149.2:p.Pro424Ala, XP_011508840.1:p.Pro243Ala, NP_001288556.1:p.Pro424Ala, NP_001363331.1:p.Pro424Ala, NP_001363330.1:p.Pro424Ala, NP_001363329.1:p.Pro424Ala, NP_001363327.1:p.Pro424Ala, NP_001363323.1:p.Pro424Ala, NP_001363333.1:p.Pro424Ala, NP_001363332.1:p.Pro424Ala, NP_001363321.1:p.Pro424Ala, XP_047299076.1:p.Pro424Ala, XP_047299072.1:p.Pro424Ala, XP_047299077.1:p.Pro243Ala

Select item 14771928606.

rs1477192860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:154245934 (GRCh38)
2:155102447 (GRCh37)
Canonical SPDI:: NC_000002.12:154245933:C:A,NC_000002.12:154245933:C:T
Gene:: GALNT13 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.154245934C>A, NC_000002.12:g.154245934C>T, NC_000002.11:g.155102447C>A, NC_000002.11:g.155102447C>T, NM_052917.4:c.809C>A, NM_052917.4:c.809C>T, NM_052917.3:c.809C>A, NM_052917.3:c.809C>T, NM_052917.2:c.809C>A, NM_052917.2:c.809C>T, XM_011510538.3:c.266C>A, XM_011510538.3:c.266C>T, XM_011510538.2:c.266C>A, XM_011510538.2:c.266C>T, XM_011510538.1:c.266C>A, XM_011510538.1:c.266C>T, NM_001301627.2:c.809C>A, NM_001301627.2:c.809C>T, NM_001301627.1:c.809C>A, NM_001301627.1:c.809C>T, NM_001376402.1:c.809C>A, NM_001376402.1:c.809C>T, NM_001376401.1:c.809C>A, NM_001376401.1:c.809C>T, NM_001376400.1:c.809C>A, NM_001376400.1:c.809C>T, NM_001376398.1:c.809C>A, NM_001376398.1:c.809C>T, NM_001376394.1:c.809C>A, NM_001376394.1:c.809C>T, NM_001376404.1:c.809C>A, NM_001376404.1:c.809C>T, NM_001376403.1:c.809C>A, NM_001376403.1:c.809C>T, NM_001376392.1:c.809C>A, NM_001376392.1:c.809C>T, NM_001376405.1:c.809C>A, NM_001376405.1:c.809C>T, XM_047443120.1:c.809C>A, XM_047443120.1:c.809C>T, XM_047443116.1:c.809C>A, XM_047443116.1:c.809C>T, XR_007069045.1:n.1367C>A, XR_007069045.1:n.1367C>T, XM_047443121.1:c.266C>A, XM_047443121.1:c.266C>T, NP_443149.2:p.Pro270His, NP_443149.2:p.Pro270Leu, XP_011508840.1:p.Pro89His, XP_011508840.1:p.Pro89Leu, NP_001288556.1:p.Pro270His, NP_001288556.1:p.Pro270Leu, NP_001363331.1:p.Pro270His, NP_001363331.1:p.Pro270Leu, NP_001363330.1:p.Pro270His, NP_001363330.1:p.Pro270Leu, NP_001363329.1:p.Pro270His, NP_001363329.1:p.Pro270Leu, NP_001363327.1:p.Pro270His, NP_001363327.1:p.Pro270Leu, NP_001363323.1:p.Pro270His, NP_001363323.1:p.Pro270Leu, NP_001363333.1:p.Pro270His, NP_001363333.1:p.Pro270Leu, NP_001363332.1:p.Pro270His, NP_001363332.1:p.Pro270Leu, NP_001363321.1:p.Pro270His, NP_001363321.1:p.Pro270Leu, NP_001363334.1:p.Pro270His, NP_001363334.1:p.Pro270Leu, XP_047299076.1:p.Pro270His, XP_047299076.1:p.Pro270Leu, XP_047299072.1:p.Pro270His, XP_047299072.1:p.Pro270Leu, XP_047299077.1:p.Pro89His, XP_047299077.1:p.Pro89Leu

Select item 14764234667.

rs1476423466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:154446604 (GRCh38)
2:155303116 (GRCh37)
Canonical SPDI:: NC_000002.12:154446603:C:T
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_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_000002.12:g.154446604C>T, NC_000002.11:g.155303116C>T, XM_011510538.3:c.1024C>T, XM_011510538.2:c.1024C>T, XM_011510538.1:c.1024C>T, NM_001301627.2:c.1537C>T, NM_001301627.1:c.1537C>T, NM_001376404.1:c.1567C>T, NM_001376403.1:c.1567C>T, XM_047443116.1:c.1567C>T, XM_047443121.1:c.1024C>T, XP_011508840.1:p.Leu342Phe, NP_001288556.1:p.Leu513Phe, NP_001363333.1:p.Leu523Phe, NP_001363332.1:p.Leu523Phe, XP_047299072.1:p.Leu523Phe, XP_047299077.1:p.Leu342Phe

Select item 14731028788.

rs1473102878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154259048 (GRCh38)
2:155115561 (GRCh37)
Canonical SPDI:: NC_000002.12:154259047:T:C
Gene:: GALNT13 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.154259048T>C, NC_000002.11:g.155115561T>C, NM_052917.4:c.885T>C, NM_052917.3:c.885T>C, NM_052917.2:c.885T>C, XM_011510538.3:c.342T>C, XM_011510538.2:c.342T>C, XM_011510538.1:c.342T>C, NM_001301627.2:c.885T>C, NM_001301627.1:c.885T>C, NM_001376402.1:c.885T>C, NM_001376401.1:c.885T>C, NM_001376400.1:c.885T>C, NM_001376398.1:c.885T>C, NM_001376394.1:c.885T>C, NM_001376404.1:c.885T>C, NM_001376403.1:c.885T>C, NM_001376392.1:c.885T>C, XM_047443120.1:c.885T>C, XM_047443116.1:c.885T>C, XM_047443121.1:c.342T>C

Select item 14706498809.

rs1470649880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:154438607 (GRCh38)
2:155295119 (GRCh37)
Canonical SPDI:: NC_000002.12:154438606:G:A
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154438607G>A, NC_000002.11:g.155295119G>A, NM_052917.4:c.1411G>A, NM_052917.3:c.1411G>A, NM_052917.2:c.1411G>A, XM_011510538.3:c.868G>A, XM_011510538.2:c.868G>A, XM_011510538.1:c.868G>A, NM_001301627.2:c.1411G>A, NM_001301627.1:c.1411G>A, NM_001376402.1:c.1411G>A, NM_001376401.1:c.1411G>A, NM_001376400.1:c.1411G>A, NM_001376398.1:c.1411G>A, NM_001376394.1:c.1411G>A, NM_001376404.1:c.1411G>A, NM_001376403.1:c.1411G>A, NM_001376392.1:c.1411G>A, NM_001376405.1:c.1153G>A, XM_047443120.1:c.1411G>A, XM_047443116.1:c.1411G>A, XM_047443121.1:c.868G>A, NP_443149.2:p.Ala471Thr, XP_011508840.1:p.Ala290Thr, NP_001288556.1:p.Ala471Thr, NP_001363331.1:p.Ala471Thr, NP_001363330.1:p.Ala471Thr, NP_001363329.1:p.Ala471Thr, NP_001363327.1:p.Ala471Thr, NP_001363323.1:p.Ala471Thr, NP_001363333.1:p.Ala471Thr, NP_001363332.1:p.Ala471Thr, NP_001363321.1:p.Ala471Thr, NP_001363334.1:p.Ala385Thr, XP_047299076.1:p.Ala471Thr, XP_047299072.1:p.Ala471Thr, XP_047299077.1:p.Ala290Thr

Select item 146977207910.

rs1469772079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:154242793 (GRCh38)
2:155099306 (GRCh37)
Canonical SPDI:: NC_000002.12:154242792:C:T
Gene:: GALNT13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.154242793C>T, NC_000002.11:g.155099306C>T, NM_052917.4:c.574C>T, NM_052917.3:c.574C>T, NM_052917.2:c.574C>T, XM_011510538.3:c.31C>T, XM_011510538.2:c.31C>T, XM_011510538.1:c.31C>T, NM_001301627.2:c.574C>T, NM_001301627.1:c.574C>T, NM_001376402.1:c.574C>T, NM_001376401.1:c.574C>T, NM_001376400.1:c.574C>T, NM_001376398.1:c.574C>T, NM_001376394.1:c.574C>T, NM_001376404.1:c.574C>T, NM_001376403.1:c.574C>T, NM_001376392.1:c.574C>T, NM_001376405.1:c.574C>T, XM_047443120.1:c.574C>T, XM_047443116.1:c.574C>T, XR_007069045.1:n.1132C>T, XM_047443121.1:c.31C>T, NP_443149.2:p.Arg192Cys, XP_011508840.1:p.Arg11Cys, NP_001288556.1:p.Arg192Cys, NP_001363331.1:p.Arg192Cys, NP_001363330.1:p.Arg192Cys, NP_001363329.1:p.Arg192Cys, NP_001363327.1:p.Arg192Cys, NP_001363323.1:p.Arg192Cys, NP_001363333.1:p.Arg192Cys, NP_001363332.1:p.Arg192Cys, NP_001363321.1:p.Arg192Cys, NP_001363334.1:p.Arg192Cys, XP_047299076.1:p.Arg192Cys, XP_047299072.1:p.Arg192Cys, XP_047299077.1:p.Arg11Cys

Select item 146810410411.

rs1468104104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:154446619 (GRCh38)
2:155303131 (GRCh37)
Canonical SPDI:: NC_000002.12:154446618:G:A
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154446619G>A, NC_000002.11:g.155303131G>A, XM_011510538.3:c.1039G>A, XM_011510538.2:c.1039G>A, XM_011510538.1:c.1039G>A, NM_001301627.2:c.1552G>A, NM_001301627.1:c.1552G>A, NM_001376404.1:c.1582G>A, NM_001376403.1:c.1582G>A, XM_047443116.1:c.1582G>A, XM_047443121.1:c.1039G>A, XP_011508840.1:p.Val347Ile, NP_001288556.1:p.Val518Ile, NP_001363333.1:p.Val528Ile, NP_001363332.1:p.Val528Ile, XP_047299072.1:p.Val528Ile, XP_047299077.1:p.Val347Ile

Select item 146444960212.

rs1464449602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154409053 (GRCh38)
2:155265565 (GRCh37)
Canonical SPDI:: NC_000002.12:154409052:T:C
Gene:: GALNT13 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.154409053T>C, NC_000002.11:g.155265565T>C, NM_052917.4:c.1366T>C, NM_052917.3:c.1366T>C, NM_052917.2:c.1366T>C, XM_011510538.3:c.823T>C, XM_011510538.2:c.823T>C, XM_011510538.1:c.823T>C, NM_001301627.2:c.1366T>C, NM_001301627.1:c.1366T>C, NM_001376402.1:c.1366T>C, NM_001376401.1:c.1366T>C, NM_001376400.1:c.1366T>C, NM_001376398.1:c.1366T>C, NM_001376394.1:c.1366T>C, NM_001376404.1:c.1366T>C, NM_001376403.1:c.1366T>C, NM_001376392.1:c.1366T>C, NM_001376405.1:c.1108T>C, XM_047443120.1:c.1366T>C, XM_047443116.1:c.1366T>C, XR_007069045.1:n.1806T>C, XM_047443121.1:c.823T>C, NP_443149.2:p.Phe456Leu, XP_011508840.1:p.Phe275Leu, NP_001288556.1:p.Phe456Leu, NP_001363331.1:p.Phe456Leu, NP_001363330.1:p.Phe456Leu, NP_001363329.1:p.Phe456Leu, NP_001363327.1:p.Phe456Leu, NP_001363323.1:p.Phe456Leu, NP_001363333.1:p.Phe456Leu, NP_001363332.1:p.Phe456Leu, NP_001363321.1:p.Phe456Leu, NP_001363334.1:p.Phe370Leu, XP_047299076.1:p.Phe456Leu, XP_047299072.1:p.Phe456Leu, XP_047299077.1:p.Phe275Leu

Select item 146390638913.

rs1463906389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:154446722 (GRCh38)
2:155303234 (GRCh37)
Canonical SPDI:: NC_000002.12:154446721:T:C,NC_000002.12:154446721:T:G
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154446722T>C, NC_000002.12:g.154446722T>G, NC_000002.11:g.155303234T>C, NC_000002.11:g.155303234T>G, XM_011510538.3:c.1142T>C, XM_011510538.3:c.1142T>G, XM_011510538.2:c.1142T>C, XM_011510538.2:c.1142T>G, XM_011510538.1:c.1142T>C, XM_011510538.1:c.1142T>G, NM_001301627.2:c.1655T>C, NM_001301627.2:c.1655T>G, NM_001301627.1:c.1655T>C, NM_001301627.1:c.1655T>G, NM_001376404.1:c.1685T>C, NM_001376404.1:c.1685T>G, NM_001376403.1:c.1685T>C, NM_001376403.1:c.1685T>G, XM_047443116.1:c.1685T>C, XM_047443116.1:c.1685T>G, XM_047443121.1:c.1142T>C, XM_047443121.1:c.1142T>G, XP_011508840.1:p.Ile381Thr, XP_011508840.1:p.Ile381Ser, NP_001288556.1:p.Ile552Thr, NP_001288556.1:p.Ile552Ser, NP_001363333.1:p.Ile562Thr, NP_001363333.1:p.Ile562Ser, NP_001363332.1:p.Ile562Thr, NP_001363332.1:p.Ile562Ser, XP_047299072.1:p.Ile562Thr, XP_047299072.1:p.Ile562Ser, XP_047299077.1:p.Ile381Thr, XP_047299077.1:p.Ile381Ser

Select item 145511108314.

rs1455111083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:154446705 (GRCh38)
2:155303217 (GRCh37)
Canonical SPDI:: NC_000002.12:154446704:G:A
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.154446705G>A, NC_000002.11:g.155303217G>A, XM_011510538.3:c.1125G>A, XM_011510538.2:c.1125G>A, XM_011510538.1:c.1125G>A, NM_001301627.2:c.1638G>A, NM_001301627.1:c.1638G>A, NM_001376404.1:c.1668G>A, NM_001376403.1:c.1668G>A, XM_047443116.1:c.1668G>A, XM_047443121.1:c.1125G>A, XP_011508840.1:p.Met375Ile, NP_001288556.1:p.Met546Ile, NP_001363333.1:p.Met556Ile, NP_001363332.1:p.Met556Ile, XP_047299072.1:p.Met556Ile, XP_047299077.1:p.Met375Ile

Select item 145259702515.

rs1452597025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:154396116 (GRCh38)
2:155252628 (GRCh37)
Canonical SPDI:: NC_000002.12:154396115:T:A,NC_000002.12:154396115:T:C
Gene:: GALNT13 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154396116T>A, NC_000002.12:g.154396116T>C, NC_000002.11:g.155252628T>A, NC_000002.11:g.155252628T>C, NM_052917.4:c.1282T>A, NM_052917.4:c.1282T>C, NM_052917.3:c.1282T>A, NM_052917.3:c.1282T>C, NM_052917.2:c.1282T>A, NM_052917.2:c.1282T>C, XM_011510538.3:c.739T>A, XM_011510538.3:c.739T>C, XM_011510538.2:c.739T>A, XM_011510538.2:c.739T>C, XM_011510538.1:c.739T>A, XM_011510538.1:c.739T>C, NM_001301627.2:c.1282T>A, NM_001301627.2:c.1282T>C, NM_001301627.1:c.1282T>A, NM_001301627.1:c.1282T>C, NM_001376402.1:c.1282T>A, NM_001376402.1:c.1282T>C, NM_001376401.1:c.1282T>A, NM_001376401.1:c.1282T>C, NM_001376400.1:c.1282T>A, NM_001376400.1:c.1282T>C, NM_001376398.1:c.1282T>A, NM_001376398.1:c.1282T>C, NM_001376394.1:c.1282T>A, NM_001376394.1:c.1282T>C, NM_001376404.1:c.1282T>A, NM_001376404.1:c.1282T>C, NM_001376403.1:c.1282T>A, NM_001376403.1:c.1282T>C, NM_001376392.1:c.1282T>A, NM_001376392.1:c.1282T>C, XM_047443120.1:c.1282T>A, XM_047443120.1:c.1282T>C, XM_047443116.1:c.1282T>A, XM_047443116.1:c.1282T>C, XR_007069045.1:n.1722T>A, XR_007069045.1:n.1722T>C, XM_047443121.1:c.739T>A, XM_047443121.1:c.739T>C, NP_443149.2:p.Tyr428Asn, NP_443149.2:p.Tyr428His, XP_011508840.1:p.Tyr247Asn, XP_011508840.1:p.Tyr247His, NP_001288556.1:p.Tyr428Asn, NP_001288556.1:p.Tyr428His, NP_001363331.1:p.Tyr428Asn, NP_001363331.1:p.Tyr428His, NP_001363330.1:p.Tyr428Asn, NP_001363330.1:p.Tyr428His, NP_001363329.1:p.Tyr428Asn, NP_001363329.1:p.Tyr428His, NP_001363327.1:p.Tyr428Asn, NP_001363327.1:p.Tyr428His, NP_001363323.1:p.Tyr428Asn, NP_001363323.1:p.Tyr428His, NP_001363333.1:p.Tyr428Asn, NP_001363333.1:p.Tyr428His, NP_001363332.1:p.Tyr428Asn, NP_001363332.1:p.Tyr428His, NP_001363321.1:p.Tyr428Asn, NP_001363321.1:p.Tyr428His, XP_047299076.1:p.Tyr428Asn, XP_047299076.1:p.Tyr428His, XP_047299072.1:p.Tyr428Asn, XP_047299072.1:p.Tyr428His, XP_047299077.1:p.Tyr247Asn, XP_047299077.1:p.Tyr247His

Select item 145252468116.

rs1452524681 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCTTTCG [Show Flanks]
Chromosome:: 2:154438714 (GRCh38)
2:155295227 (GRCh37)
Canonical SPDI:: NC_000002.12:154438714::GCTTTCG
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.154438714_154438715insGCTTTCG, NC_000002.11:g.155295226_155295227insGCTTTCG, NM_052917.4:c.1518_1519insGCTTTCG, NM_052917.3:c.1518_1519insGCTTTCG, NM_052917.2:c.1518_1519insGCTTTCG, XM_011510538.3:c.975_976insGCTTTCG, XM_011510538.2:c.975_976insGCTTTCG, XM_011510538.1:c.975_976insGCTTTCG, NM_001301627.2:c.1518_1519insGCTTTCG, NM_001301627.1:c.1518_1519insGCTTTCG, NM_001376402.1:c.1518_1519insGCTTTCG, NM_001376401.1:c.1518_1519insGCTTTCG, NM_001376400.1:c.1518_1519insGCTTTCG, NM_001376398.1:c.1518_1519insGCTTTCG, NM_001376394.1:c.1518_1519insGCTTTCG, NM_001376404.1:c.1518_1519insGCTTTCG, NM_001376403.1:c.1518_1519insGCTTTCG, NM_001376392.1:c.1518_1519insGCTTTCG, NM_001376405.1:c.1260_1261insGCTTTCG, XM_047443120.1:c.1518_1519insGCTTTCG, XM_047443116.1:c.1518_1519insGCTTTCG, XM_047443121.1:c.975_976insGCTTTCG, NP_443149.2:p.Tyr507fs, XP_011508840.1:p.Tyr326fs, NP_001288556.1:p.Tyr507fs, NP_001363331.1:p.Tyr507fs, NP_001363330.1:p.Tyr507fs, NP_001363329.1:p.Tyr507fs, NP_001363327.1:p.Tyr507fs, NP_001363323.1:p.Tyr507fs, NP_001363333.1:p.Tyr507fs, NP_001363332.1:p.Tyr507fs, NP_001363321.1:p.Tyr507fs, NP_001363334.1:p.Tyr421fs, XP_047299076.1:p.Tyr507fs, XP_047299072.1:p.Tyr507fs, XP_047299077.1:p.Tyr326fs

Select item 144809148017.

rs1448091480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:154446672 (GRCh38)
2:155303184 (GRCh37)
Canonical SPDI:: NC_000002.12:154446671:G:A
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.154446672G>A, NC_000002.11:g.155303184G>A, XM_011510538.3:c.1092G>A, XM_011510538.2:c.1092G>A, XM_011510538.1:c.1092G>A, NM_001301627.2:c.1605G>A, NM_001301627.1:c.1605G>A, NM_001376404.1:c.1635G>A, NM_001376403.1:c.1635G>A, XM_047443116.1:c.1635G>A, XM_047443121.1:c.1092G>A

Select item 144593221318.

rs1445932213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:154242881 (GRCh38)
2:155099394 (GRCh37)
Canonical SPDI:: NC_000002.12:154242880:T:G
Gene:: GALNT13 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.154242881T>G, NC_000002.11:g.155099394T>G, NM_052917.4:c.662T>G, NM_052917.3:c.662T>G, NM_052917.2:c.662T>G, XM_011510538.3:c.119T>G, XM_011510538.2:c.119T>G, XM_011510538.1:c.119T>G, NM_001301627.2:c.662T>G, NM_001301627.1:c.662T>G, NM_001376402.1:c.662T>G, NM_001376401.1:c.662T>G, NM_001376400.1:c.662T>G, NM_001376398.1:c.662T>G, NM_001376394.1:c.662T>G, NM_001376404.1:c.662T>G, NM_001376403.1:c.662T>G, NM_001376392.1:c.662T>G, NM_001376405.1:c.662T>G, XM_047443120.1:c.662T>G, XM_047443116.1:c.662T>G, XR_007069045.1:n.1220T>G, XM_047443121.1:c.119T>G, NP_443149.2:p.Leu221Trp, XP_011508840.1:p.Leu40Trp, NP_001288556.1:p.Leu221Trp, NP_001363331.1:p.Leu221Trp, NP_001363330.1:p.Leu221Trp, NP_001363329.1:p.Leu221Trp, NP_001363327.1:p.Leu221Trp, NP_001363323.1:p.Leu221Trp, NP_001363333.1:p.Leu221Trp, NP_001363332.1:p.Leu221Trp, NP_001363321.1:p.Leu221Trp, NP_001363334.1:p.Leu221Trp, XP_047299076.1:p.Leu221Trp, XP_047299072.1:p.Leu221Trp, XP_047299077.1:p.Leu40Trp

Select item 143922967719.

rs1439229677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154446710 (GRCh38)
2:155303222 (GRCh37)
Canonical SPDI:: NC_000002.12:154446709:T:C
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.154446710T>C, NC_000002.11:g.155303222T>C, XM_011510538.3:c.1130T>C, XM_011510538.2:c.1130T>C, XM_011510538.1:c.1130T>C, NM_001301627.2:c.1643T>C, NM_001301627.1:c.1643T>C, NM_001376404.1:c.1673T>C, NM_001376403.1:c.1673T>C, XM_047443116.1:c.1673T>C, XM_047443121.1:c.1130T>C, XP_011508840.1:p.Ile377Thr, NP_001288556.1:p.Ile548Thr, NP_001363333.1:p.Ile558Thr, NP_001363332.1:p.Ile558Thr, XP_047299072.1:p.Ile558Thr, XP_047299077.1:p.Ile377Thr

Select item 143605466020.

rs1436054660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:154301506 (GRCh38)
2:155158019 (GRCh37)
Canonical SPDI:: NC_000002.12:154301505:G:C
Gene:: GALNT13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.154301506G>C, NC_000002.11:g.155158019G>C, NM_052917.4:c.1073G>C, NM_052917.3:c.1073G>C, NM_052917.2:c.1073G>C, XM_011510538.3:c.530G>C, XM_011510538.2:c.530G>C, XM_011510538.1:c.530G>C, NM_001301627.2:c.1073G>C, NM_001301627.1:c.1073G>C, NM_001376402.1:c.1073G>C, NM_001376401.1:c.1073G>C, NM_001376400.1:c.1073G>C, NM_001376398.1:c.1073G>C, NM_001376394.1:c.1073G>C, NM_001376404.1:c.1073G>C, NM_001376403.1:c.1073G>C, NM_001376392.1:c.1073G>C, NM_001376405.1:c.955G>C, XM_047443120.1:c.1073G>C, XM_047443116.1:c.1073G>C, XR_007069045.1:n.1513G>C, XM_047443121.1:c.530G>C, NP_443149.2:p.Gly358Ala, XP_011508840.1:p.Gly177Ala, NP_001288556.1:p.Gly358Ala, NP_001363331.1:p.Gly358Ala, NP_001363330.1:p.Gly358Ala, NP_001363329.1:p.Gly358Ala, NP_001363327.1:p.Gly358Ala, NP_001363323.1:p.Gly358Ala, NP_001363333.1:p.Gly358Ala, NP_001363332.1:p.Gly358Ala, NP_001363321.1:p.Gly358Ala, NP_001363334.1:p.Val319Leu, XP_047299076.1:p.Gly358Ala, XP_047299072.1:p.Gly358Ala, XP_047299077.1:p.Gly177Ala

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