SNP Links for Protein (Select 569026718) - SNP

Select item 14863384501.

rs1486338450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:4559362 (GRCh38)
17:4462657 (GRCh37)
Canonical SPDI:: NC_000017.11:4559361:A:G,NC_000017.11:4559361:A:T
Gene:: GGT6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4559362A>G, NC_000017.11:g.4559362A>T, NC_000017.10:g.4462657A>G, NC_000017.10:g.4462657A>T, NG_047119.1:g.1025T>C, NG_047119.1:g.1025T>A, NM_001122890.3:c.420T>C, NM_001122890.3:c.420T>A, NM_001122890.2:c.420T>C, NM_001122890.2:c.420T>A, NM_001122890.1:c.420T>C, NM_001122890.1:c.420T>A, NM_001288702.2:c.438T>C, NM_001288702.2:c.438T>A, NM_001288702.1:c.438T>C, NM_001288702.1:c.438T>A, NM_001288703.2:c.420T>C, NM_001288703.2:c.420T>A, NM_001288703.1:c.420T>C, NM_001288703.1:c.420T>A, XM_024450572.2:c.-25T>C, XM_024450572.2:c.-25T>A, XM_024450572.1:c.795T>C, XM_024450572.1:c.795T>A, XM_047435334.1:c.438T>C, XM_047435334.1:c.438T>A, XM_047435335.1:c.420T>C, XM_047435335.1:c.420T>A, XM_047435337.1:c.420T>C, XM_047435337.1:c.420T>A, NP_001116362.1:p.His140Gln, NP_001275631.1:p.His146Gln, NP_001275632.1:p.His140Gln, XP_047291290.1:p.His146Gln, XP_047291291.1:p.His140Gln, XP_047291293.1:p.His140Gln

Select item 14842196962.

rs1484219696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4558352 (GRCh38)
17:4461647 (GRCh37)
Canonical SPDI:: NC_000017.11:4558351:G:C
Gene:: GGT6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.4558352G>C, NC_000017.10:g.4461647G>C, NG_047119.1:g.2035C>G, NM_153338.4:c.1049C>G, NM_153338.3:c.1049C>G, NM_153338.2:c.1049C>G, NM_001122890.3:c.1145C>G, NM_001122890.2:c.1145C>G, NM_001122890.1:c.1145C>G, NM_001288702.2:c.1163C>G, NM_001288702.1:c.1163C>G, NM_001288703.2:c.555C>G, NM_001288703.1:c.555C>G, NM_001288704.2:c.459C>G, NM_001288704.1:c.459C>G, XM_024450572.2:c.701C>G, XM_024450572.1:c.1520C>G, XM_047435334.1:c.1163C>G, XM_047435335.1:c.1145C>G, XM_047435336.1:c.1049C>G, XM_047435337.1:c.555C>G, XM_047435338.1:c.459C>G, NP_699169.2:p.Thr350Ser, NP_001116362.1:p.Thr382Ser, NP_001275631.1:p.Thr388Ser, NP_001275632.1:p.His185Gln, NP_001275633.1:p.His153Gln, XP_024306340.2:p.Thr234Ser, XP_047291290.1:p.Thr388Ser, XP_047291291.1:p.Thr382Ser, XP_047291292.1:p.Thr350Ser, XP_047291293.1:p.His185Gln, XP_047291294.1:p.His153Gln

Select item 14808417033.

rs1480841703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4558456 (GRCh38)
17:4461751 (GRCh37)
Canonical SPDI:: NC_000017.11:4558455:G:A
Gene:: GGT6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.4558456G>A, NC_000017.10:g.4461751G>A, NG_047119.1:g.1931C>T, NM_153338.4:c.945C>T, NM_153338.3:c.945C>T, NM_153338.2:c.945C>T, NM_001122890.3:c.1041C>T, NM_001122890.2:c.1041C>T, NM_001122890.1:c.1041C>T, NM_001288702.2:c.1059C>T, NM_001288702.1:c.1059C>T, NM_001288703.2:c.451C>T, NM_001288703.1:c.451C>T, NM_001288704.2:c.355C>T, NM_001288704.1:c.355C>T, XM_024450572.2:c.597C>T, XM_024450572.1:c.1416C>T, XM_047435334.1:c.1059C>T, XM_047435335.1:c.1041C>T, XM_047435336.1:c.945C>T, XM_047435337.1:c.451C>T, XM_047435338.1:c.355C>T, NP_001275632.1:p.Pro151Ser, NP_001275633.1:p.Pro119Ser, XP_047291293.1:p.Pro151Ser, XP_047291294.1:p.Pro119Ser

Select item 14799293364.

rs1479929336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4559700 (GRCh38)
17:4462995 (GRCh37)
Canonical SPDI:: NC_000017.11:4559699:C:T
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4559700C>T, NC_000017.10:g.4462995C>T, NG_047119.1:g.687G>A, NM_153338.4:c.201G>A, NM_153338.3:c.201G>A, NM_153338.2:c.201G>A, NM_001122890.3:c.201G>A, NM_001122890.2:c.201G>A, NM_001122890.1:c.201G>A, NM_001288702.2:c.201G>A, NM_001288702.1:c.201G>A, NM_001288703.2:c.201G>A, NM_001288703.1:c.201G>A, NM_001288704.2:c.201G>A, NM_001288704.1:c.201G>A, XM_024450572.2:c.-279G>A, XM_024450572.1:c.541G>A, XM_047435334.1:c.201G>A, XM_047435335.1:c.201G>A, XM_047435336.1:c.201G>A, XM_047435337.1:c.201G>A, XM_047435338.1:c.201G>A

Select item 14784741245.

rs1478474124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4560415 (GRCh38)
17:4463710 (GRCh37)
Canonical SPDI:: NC_000017.11:4560414:A:G
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4560415A>G, NC_000017.10:g.4463710A>G, NM_153338.4:c.107T>C, NM_153338.3:c.107T>C, NM_153338.2:c.107T>C, NM_001122890.3:c.107T>C, NM_001122890.2:c.107T>C, NM_001122890.1:c.107T>C, NM_001288702.2:c.107T>C, NM_001288702.1:c.107T>C, NM_001288703.2:c.107T>C, NM_001288703.1:c.107T>C, NM_001288704.2:c.107T>C, NM_001288704.1:c.107T>C, XM_024450572.2:c.-373T>C, XM_024450572.1:c.447T>C, XM_047435334.1:c.107T>C, XM_047435335.1:c.107T>C, XM_047435336.1:c.107T>C, XM_047435337.1:c.107T>C, XM_047435338.1:c.107T>C, NP_699169.2:p.Val36Ala, NP_001116362.1:p.Val36Ala, NP_001275631.1:p.Val36Ala, NP_001275632.1:p.Val36Ala, NP_001275633.1:p.Val36Ala, XP_047291290.1:p.Val36Ala, XP_047291291.1:p.Val36Ala, XP_047291292.1:p.Val36Ala, XP_047291293.1:p.Val36Ala, XP_047291294.1:p.Val36Ala

Select item 14762808916.

rs1476280891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4559614 (GRCh38)
17:4462909 (GRCh37)
Canonical SPDI:: NC_000017.11:4559613:C:T
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.4559614C>T, NC_000017.10:g.4462909C>T, NG_047119.1:g.773G>A, NM_153338.4:c.287G>A, NM_153338.3:c.287G>A, NM_153338.2:c.287G>A, NM_001122890.3:c.287G>A, NM_001122890.2:c.287G>A, NM_001122890.1:c.287G>A, NM_001288702.2:c.287G>A, NM_001288702.1:c.287G>A, NM_001288703.2:c.287G>A, NM_001288703.1:c.287G>A, NM_001288704.2:c.287G>A, NM_001288704.1:c.287G>A, XM_024450572.2:c.-193G>A, XM_024450572.1:c.627G>A, XM_047435334.1:c.287G>A, XM_047435335.1:c.287G>A, XM_047435336.1:c.287G>A, XM_047435337.1:c.287G>A, XM_047435338.1:c.287G>A, NP_699169.2:p.Gly96Asp, NP_001116362.1:p.Gly96Asp, NP_001275631.1:p.Gly96Asp, NP_001275632.1:p.Gly96Asp, NP_001275633.1:p.Gly96Asp, XP_047291290.1:p.Gly96Asp, XP_047291291.1:p.Gly96Asp, XP_047291292.1:p.Gly96Asp, XP_047291293.1:p.Gly96Asp, XP_047291294.1:p.Gly96Asp

Select item 14731797897.

rs1473179789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:4559677 (GRCh38)
17:4462972 (GRCh37)
Canonical SPDI:: NC_000017.11:4559676:A:T
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4559677A>T, NC_000017.10:g.4462972A>T, NG_047119.1:g.710T>A, NM_153338.4:c.224T>A, NM_153338.3:c.224T>A, NM_153338.2:c.224T>A, NM_001122890.3:c.224T>A, NM_001122890.2:c.224T>A, NM_001122890.1:c.224T>A, NM_001288702.2:c.224T>A, NM_001288702.1:c.224T>A, NM_001288703.2:c.224T>A, NM_001288703.1:c.224T>A, NM_001288704.2:c.224T>A, NM_001288704.1:c.224T>A, XM_024450572.2:c.-256T>A, XM_024450572.1:c.564T>A, XM_047435334.1:c.224T>A, XM_047435335.1:c.224T>A, XM_047435336.1:c.224T>A, XM_047435337.1:c.224T>A, XM_047435338.1:c.224T>A, NP_699169.2:p.Val75Glu, NP_001116362.1:p.Val75Glu, NP_001275631.1:p.Val75Glu, NP_001275632.1:p.Val75Glu, NP_001275633.1:p.Val75Glu, XP_047291290.1:p.Val75Glu, XP_047291291.1:p.Val75Glu, XP_047291292.1:p.Val75Glu, XP_047291293.1:p.Val75Glu, XP_047291294.1:p.Val75Glu

Select item 14698769198.

rs1469876919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4559691 (GRCh38)
17:4462986 (GRCh37)
Canonical SPDI:: NC_000017.11:4559690:G:A,NC_000017.11:4559690:G:C
Gene:: GGT6 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_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)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.4559691G>A, NC_000017.11:g.4559691G>C, NC_000017.10:g.4462986G>A, NC_000017.10:g.4462986G>C, NG_047119.1:g.696C>T, NG_047119.1:g.696C>G, NM_153338.4:c.210C>T, NM_153338.4:c.210C>G, NM_153338.3:c.210C>T, NM_153338.3:c.210C>G, NM_153338.2:c.210C>T, NM_153338.2:c.210C>G, NM_001122890.3:c.210C>T, NM_001122890.3:c.210C>G, NM_001122890.2:c.210C>T, NM_001122890.2:c.210C>G, NM_001122890.1:c.210C>T, NM_001122890.1:c.210C>G, NM_001288702.2:c.210C>T, NM_001288702.2:c.210C>G, NM_001288702.1:c.210C>T, NM_001288702.1:c.210C>G, NM_001288703.2:c.210C>T, NM_001288703.2:c.210C>G, NM_001288703.1:c.210C>T, NM_001288703.1:c.210C>G, NM_001288704.2:c.210C>T, NM_001288704.2:c.210C>G, NM_001288704.1:c.210C>T, NM_001288704.1:c.210C>G, XM_024450572.2:c.-270C>T, XM_024450572.2:c.-270C>G, XM_024450572.1:c.550C>T, XM_024450572.1:c.550C>G, XM_047435334.1:c.210C>T, XM_047435334.1:c.210C>G, XM_047435335.1:c.210C>T, XM_047435335.1:c.210C>G, XM_047435336.1:c.210C>T, XM_047435336.1:c.210C>G, XM_047435337.1:c.210C>T, XM_047435337.1:c.210C>G, XM_047435338.1:c.210C>T, XM_047435338.1:c.210C>G

Select item 14646389979.

rs1464638997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:4558425 (GRCh38)
17:4461720 (GRCh37)
Canonical SPDI:: NC_000017.11:4558424:T:G
Gene:: GGT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4558425T>G, NC_000017.10:g.4461720T>G, NG_047119.1:g.1962A>C, NM_153338.4:c.976A>C, NM_153338.3:c.976A>C, NM_153338.2:c.976A>C, NM_001122890.3:c.1072A>C, NM_001122890.2:c.1072A>C, NM_001122890.1:c.1072A>C, NM_001288702.2:c.1090A>C, NM_001288702.1:c.1090A>C, NM_001288703.2:c.482A>C, NM_001288703.1:c.482A>C, NM_001288704.2:c.386A>C, NM_001288704.1:c.386A>C, XM_024450572.2:c.628A>C, XM_024450572.1:c.1447A>C, XM_047435334.1:c.1090A>C, XM_047435335.1:c.1072A>C, XM_047435336.1:c.976A>C, XM_047435337.1:c.482A>C, XM_047435338.1:c.386A>C, NP_699169.2:p.Ser326Arg, NP_001116362.1:p.Ser358Arg, NP_001275631.1:p.Ser364Arg, NP_001275632.1:p.Gln161Pro, NP_001275633.1:p.Gln129Pro, XP_024306340.2:p.Ser210Arg, XP_047291290.1:p.Ser364Arg, XP_047291291.1:p.Ser358Arg, XP_047291292.1:p.Ser326Arg, XP_047291293.1:p.Gln161Pro, XP_047291294.1:p.Gln129Pro

Select item 146303788610.

rs1463037886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:4559611 (GRCh38)
17:4462906 (GRCh37)
Canonical SPDI:: NC_000017.11:4559610:C:A
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.4559611C>A, NC_000017.10:g.4462906C>A, NG_047119.1:g.776G>T, NM_153338.4:c.290G>T, NM_153338.3:c.290G>T, NM_153338.2:c.290G>T, NM_001122890.3:c.290G>T, NM_001122890.2:c.290G>T, NM_001122890.1:c.290G>T, NM_001288702.2:c.290G>T, NM_001288702.1:c.290G>T, NM_001288703.2:c.290G>T, NM_001288703.1:c.290G>T, NM_001288704.2:c.290G>T, NM_001288704.1:c.290G>T, XM_024450572.2:c.-190G>T, XM_024450572.1:c.630G>T, XM_047435334.1:c.290G>T, XM_047435335.1:c.290G>T, XM_047435336.1:c.290G>T, XM_047435337.1:c.290G>T, XM_047435338.1:c.290G>T, NP_699169.2:p.Gly97Val, NP_001116362.1:p.Gly97Val, NP_001275631.1:p.Gly97Val, NP_001275632.1:p.Gly97Val, NP_001275633.1:p.Gly97Val, XP_047291290.1:p.Gly97Val, XP_047291291.1:p.Gly97Val, XP_047291292.1:p.Gly97Val, XP_047291293.1:p.Gly97Val, XP_047291294.1:p.Gly97Val

Select item 146272988311.

rs1462729883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4559733 (GRCh38)
17:4463028 (GRCh37)
Canonical SPDI:: NC_000017.11:4559732:G:A
Gene:: GGT6 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.4559733G>A, NC_000017.10:g.4463028G>A, NG_047119.1:g.654C>T, NM_153338.4:c.168C>T, NM_153338.3:c.168C>T, NM_153338.2:c.168C>T, NM_001122890.3:c.168C>T, NM_001122890.2:c.168C>T, NM_001122890.1:c.168C>T, NM_001288702.2:c.168C>T, NM_001288702.1:c.168C>T, NM_001288703.2:c.168C>T, NM_001288703.1:c.168C>T, NM_001288704.2:c.168C>T, NM_001288704.1:c.168C>T, XM_024450572.2:c.-312C>T, XM_024450572.1:c.508C>T, XM_047435334.1:c.168C>T, XM_047435335.1:c.168C>T, XM_047435336.1:c.168C>T, XM_047435337.1:c.168C>T, XM_047435338.1:c.168C>T

Select item 145987566312.

rs1459875663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4559618 (GRCh38)
17:4462913 (GRCh37)
Canonical SPDI:: NC_000017.11:4559617:G:C
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.4559618G>C, NC_000017.10:g.4462913G>C, NG_047119.1:g.769C>G, NM_153338.4:c.283C>G, NM_153338.3:c.283C>G, NM_153338.2:c.283C>G, NM_001122890.3:c.283C>G, NM_001122890.2:c.283C>G, NM_001122890.1:c.283C>G, NM_001288702.2:c.283C>G, NM_001288702.1:c.283C>G, NM_001288703.2:c.283C>G, NM_001288703.1:c.283C>G, NM_001288704.2:c.283C>G, NM_001288704.1:c.283C>G, XM_024450572.2:c.-197C>G, XM_024450572.1:c.623C>G, XM_047435334.1:c.283C>G, XM_047435335.1:c.283C>G, XM_047435336.1:c.283C>G, XM_047435337.1:c.283C>G, XM_047435338.1:c.283C>G, NP_699169.2:p.Pro95Ala, NP_001116362.1:p.Pro95Ala, NP_001275631.1:p.Pro95Ala, NP_001275632.1:p.Pro95Ala, NP_001275633.1:p.Pro95Ala, XP_047291290.1:p.Pro95Ala, XP_047291291.1:p.Pro95Ala, XP_047291292.1:p.Pro95Ala, XP_047291293.1:p.Pro95Ala, XP_047291294.1:p.Pro95Ala

Select item 145652699813.

rs1456526998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4560478 (GRCh38)
17:4463773 (GRCh37)
Canonical SPDI:: NC_000017.11:4560477:G:A,NC_000017.11:4560477:G:C
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.4560478G>A, NC_000017.11:g.4560478G>C, NC_000017.10:g.4463773G>A, NC_000017.10:g.4463773G>C, NM_153338.4:c.44C>T, NM_153338.4:c.44C>G, NM_153338.3:c.44C>T, NM_153338.3:c.44C>G, NM_153338.2:c.44C>T, NM_153338.2:c.44C>G, NM_001122890.3:c.44C>T, NM_001122890.3:c.44C>G, NM_001122890.2:c.44C>T, NM_001122890.2:c.44C>G, NM_001122890.1:c.44C>T, NM_001122890.1:c.44C>G, NM_001288702.2:c.44C>T, NM_001288702.2:c.44C>G, NM_001288702.1:c.44C>T, NM_001288702.1:c.44C>G, NM_001288703.2:c.44C>T, NM_001288703.2:c.44C>G, NM_001288703.1:c.44C>T, NM_001288703.1:c.44C>G, NM_001288704.2:c.44C>T, NM_001288704.2:c.44C>G, NM_001288704.1:c.44C>T, NM_001288704.1:c.44C>G, XM_024450572.2:c.-436C>T, XM_024450572.2:c.-436C>G, XM_024450572.1:c.384C>T, XM_024450572.1:c.384C>G, XM_047435334.1:c.44C>T, XM_047435334.1:c.44C>G, XM_047435335.1:c.44C>T, XM_047435335.1:c.44C>G, XM_047435336.1:c.44C>T, XM_047435336.1:c.44C>G, XM_047435337.1:c.44C>T, XM_047435337.1:c.44C>G, XM_047435338.1:c.44C>T, XM_047435338.1:c.44C>G, NP_699169.2:p.Pro15Leu, NP_699169.2:p.Pro15Arg, NP_001116362.1:p.Pro15Leu, NP_001116362.1:p.Pro15Arg, NP_001275631.1:p.Pro15Leu, NP_001275631.1:p.Pro15Arg, NP_001275632.1:p.Pro15Leu, NP_001275632.1:p.Pro15Arg, NP_001275633.1:p.Pro15Leu, NP_001275633.1:p.Pro15Arg, XP_047291290.1:p.Pro15Leu, XP_047291290.1:p.Pro15Arg, XP_047291291.1:p.Pro15Leu, XP_047291291.1:p.Pro15Arg, XP_047291292.1:p.Pro15Leu, XP_047291292.1:p.Pro15Arg, XP_047291293.1:p.Pro15Leu, XP_047291293.1:p.Pro15Arg, XP_047291294.1:p.Pro15Leu, XP_047291294.1:p.Pro15Arg

Select item 145176236614.

rs1451762366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:4559608 (GRCh38)
17:4462903 (GRCh37)
Canonical SPDI:: NC_000017.11:4559607:T:G
Gene:: GGT6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4559608T>G, NC_000017.10:g.4462903T>G, NG_047119.1:g.779A>C, NM_153338.4:c.293A>C, NM_153338.3:c.293A>C, NM_153338.2:c.293A>C, NM_001122890.3:c.293A>C, NM_001122890.2:c.293A>C, NM_001122890.1:c.293A>C, NM_001288702.2:c.293A>C, NM_001288702.1:c.293A>C, NM_001288703.2:c.293A>C, NM_001288703.1:c.293A>C, NM_001288704.2:c.293A>C, NM_001288704.1:c.293A>C, XM_024450572.2:c.-187A>C, XM_024450572.1:c.633A>C, XM_047435334.1:c.293A>C, XM_047435335.1:c.293A>C, XM_047435336.1:c.293A>C, XM_047435337.1:c.293A>C, XM_047435338.1:c.293A>C, NP_699169.2:p.His98Pro, NP_001116362.1:p.His98Pro, NP_001275631.1:p.His98Pro, NP_001275632.1:p.His98Pro, NP_001275633.1:p.His98Pro, XP_047291290.1:p.His98Pro, XP_047291291.1:p.His98Pro, XP_047291292.1:p.His98Pro, XP_047291293.1:p.His98Pro, XP_047291294.1:p.His98Pro

Select item 144170316415.

rs1441703164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4559744 (GRCh38)
17:4463039 (GRCh37)
Canonical SPDI:: NC_000017.11:4559743:G:T
Gene:: GGT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000017.11:g.4559744G>T, NC_000017.10:g.4463039G>T, NG_047119.1:g.643C>A, NM_153338.4:c.157C>A, NM_153338.3:c.157C>A, NM_153338.2:c.157C>A, NM_001122890.3:c.157C>A, NM_001122890.2:c.157C>A, NM_001122890.1:c.157C>A, NM_001288702.2:c.157C>A, NM_001288702.1:c.157C>A, NM_001288703.2:c.157C>A, NM_001288703.1:c.157C>A, NM_001288704.2:c.157C>A, NM_001288704.1:c.157C>A, XM_024450572.2:c.-323C>A, XM_024450572.1:c.497C>A, XM_047435334.1:c.157C>A, XM_047435335.1:c.157C>A, XM_047435336.1:c.157C>A, XM_047435337.1:c.157C>A, XM_047435338.1:c.157C>A, NP_699169.2:p.Leu53Met, NP_001116362.1:p.Leu53Met, NP_001275631.1:p.Leu53Met, NP_001275632.1:p.Leu53Met, NP_001275633.1:p.Leu53Met, XP_047291290.1:p.Leu53Met, XP_047291291.1:p.Leu53Met, XP_047291292.1:p.Leu53Met, XP_047291293.1:p.Leu53Met, XP_047291294.1:p.Leu53Met

Select item 143600519216.

rs1436005192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4559716 (GRCh38)
17:4463011 (GRCh37)
Canonical SPDI:: NC_000017.11:4559715:G:A
Gene:: GGT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000017.11:g.4559716G>A, NC_000017.10:g.4463011G>A, NG_047119.1:g.671C>T, NM_153338.4:c.185C>T, NM_153338.3:c.185C>T, NM_153338.2:c.185C>T, NM_001122890.3:c.185C>T, NM_001122890.2:c.185C>T, NM_001122890.1:c.185C>T, NM_001288702.2:c.185C>T, NM_001288702.1:c.185C>T, NM_001288703.2:c.185C>T, NM_001288703.1:c.185C>T, NM_001288704.2:c.185C>T, NM_001288704.1:c.185C>T, XM_024450572.2:c.-295C>T, XM_024450572.1:c.525C>T, XM_047435334.1:c.185C>T, XM_047435335.1:c.185C>T, XM_047435336.1:c.185C>T, XM_047435337.1:c.185C>T, XM_047435338.1:c.185C>T, NP_699169.2:p.Ala62Val, NP_001116362.1:p.Ala62Val, NP_001275631.1:p.Ala62Val, NP_001275632.1:p.Ala62Val, NP_001275633.1:p.Ala62Val, XP_047291290.1:p.Ala62Val, XP_047291291.1:p.Ala62Val, XP_047291292.1:p.Ala62Val, XP_047291293.1:p.Ala62Val, XP_047291294.1:p.Ala62Val

Select item 143329841617.

rs1433298416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4559636 (GRCh38)
17:4462931 (GRCh37)
Canonical SPDI:: NC_000017.11:4559635:C:G
Gene:: GGT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4559636C>G, NC_000017.10:g.4462931C>G, NG_047119.1:g.751G>C, NM_153338.4:c.265G>C, NM_153338.3:c.265G>C, NM_153338.2:c.265G>C, NM_001122890.3:c.265G>C, NM_001122890.2:c.265G>C, NM_001122890.1:c.265G>C, NM_001288702.2:c.265G>C, NM_001288702.1:c.265G>C, NM_001288703.2:c.265G>C, NM_001288703.1:c.265G>C, NM_001288704.2:c.265G>C, NM_001288704.1:c.265G>C, XM_024450572.2:c.-215G>C, XM_024450572.1:c.605G>C, XM_047435334.1:c.265G>C, XM_047435335.1:c.265G>C, XM_047435336.1:c.265G>C, XM_047435337.1:c.265G>C, XM_047435338.1:c.265G>C, NP_699169.2:p.Gly89Arg, NP_001116362.1:p.Gly89Arg, NP_001275631.1:p.Gly89Arg, NP_001275632.1:p.Gly89Arg, NP_001275633.1:p.Gly89Arg, XP_047291290.1:p.Gly89Arg, XP_047291291.1:p.Gly89Arg, XP_047291292.1:p.Gly89Arg, XP_047291293.1:p.Gly89Arg, XP_047291294.1:p.Gly89Arg

Select item 143090845618.

rs1430908456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4559696 (GRCh38)
17:4462991 (GRCh37)
Canonical SPDI:: NC_000017.11:4559695:C:T
Gene:: GGT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.4559696C>T, NC_000017.10:g.4462991C>T, NG_047119.1:g.691G>A, NM_153338.4:c.205G>A, NM_153338.3:c.205G>A, NM_153338.2:c.205G>A, NM_001122890.3:c.205G>A, NM_001122890.2:c.205G>A, NM_001122890.1:c.205G>A, NM_001288702.2:c.205G>A, NM_001288702.1:c.205G>A, NM_001288703.2:c.205G>A, NM_001288703.1:c.205G>A, NM_001288704.2:c.205G>A, NM_001288704.1:c.205G>A, XM_024450572.2:c.-275G>A, XM_024450572.1:c.545G>A, XM_047435334.1:c.205G>A, XM_047435335.1:c.205G>A, XM_047435336.1:c.205G>A, XM_047435337.1:c.205G>A, XM_047435338.1:c.205G>A, NP_699169.2:p.Val69Ile, NP_001116362.1:p.Val69Ile, NP_001275631.1:p.Val69Ile, NP_001275632.1:p.Val69Ile, NP_001275633.1:p.Val69Ile, XP_047291290.1:p.Val69Ile, XP_047291291.1:p.Val69Ile, XP_047291292.1:p.Val69Ile, XP_047291293.1:p.Val69Ile, XP_047291294.1:p.Val69Ile

Select item 142872273919.

rs1428722739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4558411 (GRCh38)
17:4461706 (GRCh37)
Canonical SPDI:: NC_000017.11:4558410:C:T
Gene:: GGT6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4558411C>T, NC_000017.10:g.4461706C>T, NG_047119.1:g.1976G>A, NM_153338.4:c.990G>A, NM_153338.3:c.990G>A, NM_153338.2:c.990G>A, NM_001122890.3:c.1086G>A, NM_001122890.2:c.1086G>A, NM_001122890.1:c.1086G>A, NM_001288702.2:c.1104G>A, NM_001288702.1:c.1104G>A, NM_001288703.2:c.496G>A, NM_001288703.1:c.496G>A, NM_001288704.2:c.400G>A, NM_001288704.1:c.400G>A, XM_024450572.2:c.642G>A, XM_024450572.1:c.1461G>A, XM_047435334.1:c.1104G>A, XM_047435335.1:c.1086G>A, XM_047435336.1:c.990G>A, XM_047435337.1:c.496G>A, XM_047435338.1:c.400G>A, NP_001275632.1:p.Ala166Thr, NP_001275633.1:p.Ala134Thr, XP_047291293.1:p.Ala166Thr, XP_047291294.1:p.Ala134Thr

Select item 142831774720.

rs1428317747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4560405 (GRCh38)
17:4463700 (GRCh37)
Canonical SPDI:: NC_000017.11:4560404:G:A
Gene:: GGT6 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.4560405G>A, NC_000017.10:g.4463700G>A, NM_153338.4:c.117C>T, NM_153338.3:c.117C>T, NM_153338.2:c.117C>T, NM_001122890.3:c.117C>T, NM_001122890.2:c.117C>T, NM_001122890.1:c.117C>T, NM_001288702.2:c.117C>T, NM_001288702.1:c.117C>T, NM_001288703.2:c.117C>T, NM_001288703.1:c.117C>T, NM_001288704.2:c.117C>T, NM_001288704.1:c.117C>T, XM_024450572.2:c.-363C>T, XM_024450572.1:c.457C>T, XM_047435334.1:c.117C>T, XM_047435335.1:c.117C>T, XM_047435336.1:c.117C>T, XM_047435337.1:c.117C>T, XM_047435338.1:c.117C>T

dbSNP

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dbSNP

Result Filters

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Publication

Function Class

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Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 253

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