SNP Links for Protein (Select 4506921) - SNP

Links from Protein

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Select item 14893878651.

rs1489387865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2763676 (GRCh38)
19:2763674 (GRCh37)
Canonical SPDI:: NC_000019.10:2763675:G:A
Gene:: SGTA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2763676G>A, NC_000019.9:g.2763674G>A, XM_011528178.4:c.474C>T, XM_011528178.3:c.474C>T, XM_011528178.2:c.474C>T, XM_011528178.1:c.474C>T, NM_003021.4:c.474C>T, NM_003021.3:c.474C>T

Select item 14884384422.

rs1488438442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2757443 (GRCh38)
19:2757441 (GRCh37)
Canonical SPDI:: NC_000019.10:2757442:G:A,NC_000019.10:2757442:G:C
Gene:: SGTA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2757443G>A, NC_000019.10:g.2757443G>C, NC_000019.9:g.2757441G>A, NC_000019.9:g.2757441G>C, XM_011528178.4:c.842C>T, XM_011528178.4:c.842C>G, XM_011528178.3:c.842C>T, XM_011528178.3:c.842C>G, XM_011528178.2:c.842C>T, XM_011528178.2:c.842C>G, XM_011528178.1:c.842C>T, XM_011528178.1:c.842C>G, NM_003021.4:c.842C>T, NM_003021.4:c.842C>G, NM_003021.3:c.842C>T, NM_003021.3:c.842C>G, XP_011526480.1:p.Ala281Val, XP_011526480.1:p.Ala281Gly, NP_003012.1:p.Ala281Val, NP_003012.1:p.Ala281Gly

Select item 14880364543.

rs1488036454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2757429 (GRCh38)
19:2757427 (GRCh37)
Canonical SPDI:: NC_000019.10:2757428:G:A
Gene:: SGTA (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.2757429G>A, NC_000019.9:g.2757427G>A, XM_011528178.4:c.856C>T, XM_011528178.3:c.856C>T, XM_011528178.2:c.856C>T, XM_011528178.1:c.856C>T, NM_003021.4:c.856C>T, NM_003021.3:c.856C>T, XP_011526480.1:p.Gln286Ter, NP_003012.1:p.Gln286Ter

Select item 14879199294.

rs1487919929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2763685 (GRCh38)
19:2763683 (GRCh37)
Canonical SPDI:: NC_000019.10:2763684:G:T
Gene:: SGTA (Varview)
Functional Consequence:: missense_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_000019.10:g.2763685G>T, NC_000019.9:g.2763683G>T, XM_011528178.4:c.465C>A, XM_011528178.3:c.465C>A, XM_011528178.2:c.465C>A, XM_011528178.1:c.465C>A, NM_003021.4:c.465C>A, NM_003021.3:c.465C>A, XP_011526480.1:p.Asp155Glu, NP_003012.1:p.Asp155Glu

Select item 14811575675.

rs1481157567 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCATCTGCTG>- [Show Flanks]
Chromosome:: 19:2757430 (GRCh38)
19:2757428 (GRCh37)
Canonical SPDI:: NC_000019.10:2757422:TCTGCTGCTGCATCTGCTG:TCTGCTG
Gene:: SGTA (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGCTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2757430_2757441del, NC_000019.9:g.2757428_2757439del, XM_011528178.4:c.851_862del, XM_011528178.3:c.851_862del, XM_011528178.2:c.851_862del, XM_011528178.1:c.851_862del, NM_003021.4:c.851_862del, NM_003021.3:c.851_862del, XP_011526480.1:p.Met284_Gln287del, NP_003012.1:p.Met284_Gln287del

Select item 14789190476.

rs1478919047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2757751 (GRCh38)
19:2757749 (GRCh37)
Canonical SPDI:: NC_000019.10:2757750:G:T
Gene:: SGTA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2757751G>T, NC_000019.9:g.2757749G>T, XM_011528178.4:c.769C>A, XM_011528178.3:c.769C>A, XM_011528178.2:c.769C>A, XM_011528178.1:c.769C>A, NM_003021.4:c.769C>A, NM_003021.3:c.769C>A, XP_011526480.1:p.Pro257Thr, NP_003012.1:p.Pro257Thr

Select item 14774815487.

rs1477481548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2761485 (GRCh38)
19:2761483 (GRCh37)
Canonical SPDI:: NC_000019.10:2761484:A:G
Gene:: SGTA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2761485A>G, NC_000019.9:g.2761483A>G, XM_011528178.4:c.674T>C, XM_011528178.3:c.674T>C, XM_011528178.2:c.674T>C, XM_011528178.1:c.674T>C, NM_003021.4:c.674T>C, NM_003021.3:c.674T>C, XP_011526480.1:p.Leu225Pro, NP_003012.1:p.Leu225Pro

Select item 14769693188.

rs1476969318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:2761495 (GRCh38)
19:2761493 (GRCh37)
Canonical SPDI:: NC_000019.10:2761494:C:A,NC_000019.10:2761494:C:T
Gene:: SGTA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2761495C>A, NC_000019.10:g.2761495C>T, NC_000019.9:g.2761493C>A, NC_000019.9:g.2761493C>T, XM_011528178.4:c.664G>T, XM_011528178.4:c.664G>A, XM_011528178.3:c.664G>T, XM_011528178.3:c.664G>A, XM_011528178.2:c.664G>T, XM_011528178.2:c.664G>A, XM_011528178.1:c.664G>T, XM_011528178.1:c.664G>A, NM_003021.4:c.664G>T, NM_003021.4:c.664G>A, NM_003021.3:c.664G>T, NM_003021.3:c.664G>A, XP_011526480.1:p.Ala222Ser, XP_011526480.1:p.Ala222Thr, NP_003012.1:p.Ala222Ser, NP_003012.1:p.Ala222Thr

Select item 14666289489.

rs1466628948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:2761496 (GRCh38)
19:2761494 (GRCh37)
Canonical SPDI:: NC_000019.10:2761495:G:A,NC_000019.10:2761495:G:T
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2761496G>A, NC_000019.10:g.2761496G>T, NC_000019.9:g.2761494G>A, NC_000019.9:g.2761494G>T, XM_011528178.4:c.663C>T, XM_011528178.4:c.663C>A, XM_011528178.3:c.663C>T, XM_011528178.3:c.663C>A, XM_011528178.2:c.663C>T, XM_011528178.2:c.663C>A, XM_011528178.1:c.663C>T, XM_011528178.1:c.663C>A, NM_003021.4:c.663C>T, NM_003021.4:c.663C>A, NM_003021.3:c.663C>T, NM_003021.3:c.663C>A

Select item 146489126510.

rs1464891265 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:2757376 (GRCh38)
19:2757374 (GRCh37)
Canonical SPDI:: NC_000019.10:2757374:GCG:G
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000019.10:g.2757376_2757377del, NC_000019.9:g.2757374_2757375del, XM_011528178.4:c.909_910del, XM_011528178.3:c.909_910del, XM_011528178.2:c.909_910del, XM_011528178.1:c.909_910del, NM_003021.4:c.909_910del, NM_003021.3:c.909_910del, XP_011526480.1:p.Pro304fs, NP_003012.1:p.Pro304fs

Select item 146307960911.

rs1463079609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:2767167 (GRCh38)
19:2767165 (GRCh37)
Canonical SPDI:: NC_000019.10:2767166:G:C
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2767167G>C, NC_000019.9:g.2767165G>C, XM_011528178.4:c.261C>G, XM_011528178.3:c.261C>G, XM_011528178.2:c.261C>G, XM_011528178.1:c.261C>G, NM_003021.4:c.261C>G, NM_003021.3:c.261C>G, XP_011526480.1:p.Asp87Glu, NP_003012.1:p.Asp87Glu

Select item 146039931512.

rs1460399315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2762639 (GRCh38)
19:2762637 (GRCh37)
Canonical SPDI:: NC_000019.10:2762638:G:A
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2762639G>A, NC_000019.9:g.2762637G>A, XM_011528178.4:c.503C>T, XM_011528178.3:c.503C>T, XM_011528178.2:c.503C>T, XM_011528178.1:c.503C>T, NM_003021.4:c.503C>T, NM_003021.3:c.503C>T, XP_011526480.1:p.Ala168Val, NP_003012.1:p.Ala168Val

Select item 145902079413.

rs1459020794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:2763753 (GRCh38)
19:2763751 (GRCh37)
Canonical SPDI:: NC_000019.10:2763752:C:A,NC_000019.10:2763752:C:T
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2763753C>A, NC_000019.10:g.2763753C>T, NC_000019.9:g.2763751C>A, NC_000019.9:g.2763751C>T, XM_011528178.4:c.397G>T, XM_011528178.4:c.397G>A, XM_011528178.3:c.397G>T, XM_011528178.3:c.397G>A, XM_011528178.2:c.397G>T, XM_011528178.2:c.397G>A, XM_011528178.1:c.397G>T, XM_011528178.1:c.397G>A, NM_003021.4:c.397G>T, NM_003021.4:c.397G>A, NM_003021.3:c.397G>T, NM_003021.3:c.397G>A, XP_011526480.1:p.Ala133Ser, XP_011526480.1:p.Ala133Thr, NP_003012.1:p.Ala133Ser, NP_003012.1:p.Ala133Thr

Select item 145623569414.

rs1456235694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2757712 (GRCh38)
19:2757710 (GRCh37)
Canonical SPDI:: NC_000019.10:2757711:G:A
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2757712G>A, NC_000019.9:g.2757710G>A, XM_011528178.4:c.808C>T, XM_011528178.3:c.808C>T, XM_011528178.2:c.808C>T, XM_011528178.1:c.808C>T, NM_003021.4:c.808C>T, NM_003021.3:c.808C>T

Select item 145448167015.

rs1454481670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2767150 (GRCh38)
19:2767148 (GRCh37)
Canonical SPDI:: NC_000019.10:2767149:C:T
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2767150C>T, NC_000019.9:g.2767148C>T, XM_011528178.4:c.278G>A, XM_011528178.3:c.278G>A, XM_011528178.2:c.278G>A, XM_011528178.1:c.278G>A, NM_003021.4:c.278G>A, NM_003021.3:c.278G>A, XP_011526480.1:p.Arg93His, NP_003012.1:p.Arg93His

Select item 145114433816.

rs1451144338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2762522 (GRCh38)
19:2762520 (GRCh37)
Canonical SPDI:: NC_000019.10:2762521:C:T
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.2762522C>T, NC_000019.9:g.2762520C>T, XM_011528178.4:c.620G>A, XM_011528178.3:c.620G>A, XM_011528178.2:c.620G>A, XM_011528178.1:c.620G>A, NM_003021.4:c.620G>A, NM_003021.3:c.620G>A, XP_011526480.1:p.Arg207Gln, NP_003012.1:p.Arg207Gln

Select item 144892626517.

rs1448926265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:2762558 (GRCh38)
19:2762556 (GRCh37)
Canonical SPDI:: NC_000019.10:2762557:T:A,NC_000019.10:2762557:T:C
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.2762558T>A, NC_000019.10:g.2762558T>C, NC_000019.9:g.2762556T>A, NC_000019.9:g.2762556T>C, XM_011528178.4:c.584A>T, XM_011528178.4:c.584A>G, XM_011528178.3:c.584A>T, XM_011528178.3:c.584A>G, XM_011528178.2:c.584A>T, XM_011528178.2:c.584A>G, XM_011528178.1:c.584A>T, XM_011528178.1:c.584A>G, NM_003021.4:c.584A>T, NM_003021.4:c.584A>G, NM_003021.3:c.584A>T, NM_003021.3:c.584A>G, XP_011526480.1:p.Tyr195Phe, XP_011526480.1:p.Tyr195Cys, NP_003012.1:p.Tyr195Phe, NP_003012.1:p.Tyr195Cys

Select item 144668406318.

rs1446684063 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>- [Show Flanks]
Chromosome:: 19:2769062 (GRCh38)
19:2769060 (GRCh37)
Canonical SPDI:: NC_000019.10:2769057:TTGTTGT:TTGT
Gene:: SGTA (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGT=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2769059TGT[1], NC_000019.9:g.2769057TGT[1], XM_011528178.4:c.6CAA[1], XM_011528178.3:c.6CAA[1], XM_011528178.2:c.6CAA[1], XM_011528178.1:c.6CAA[1], NM_003021.4:c.6CAA[1], NM_003021.3:c.6CAA[1], XP_011526480.1:p.Asn3del, NP_003012.1:p.Asn3del

Select item 144592502419.

rs1445925024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2757707 (GRCh38)
19:2757705 (GRCh37)
Canonical SPDI:: NC_000019.10:2757706:G:T
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.2757707G>T, NC_000019.9:g.2757705G>T, XM_011528178.4:c.813C>A, XM_011528178.3:c.813C>A, XM_011528178.2:c.813C>A, XM_011528178.1:c.813C>A, NM_003021.4:c.813C>A, NM_003021.3:c.813C>A

Select item 144562215320.

rs1445622153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2767191 (GRCh38)
19:2767189 (GRCh37)
Canonical SPDI:: NC_000019.10:2767190:C:T
Gene:: SGTA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2767191C>T, NC_000019.9:g.2767189C>T, XM_011528178.4:c.237G>A, XM_011528178.3:c.237G>A, XM_011528178.2:c.237G>A, XM_011528178.1:c.237G>A, NM_003021.4:c.237G>A, NM_003021.3:c.237G>A

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