SNP Links for Protein (Select 530410584) - SNP

Select item 14903170441.

rs1490317044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18494304 (GRCh38)
17:18397618 (GRCh37)
Canonical SPDI:: NC_000017.11:18494303:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.18494304C>T, NC_000017.10:g.18397618C>T, NW_017363819.1:g.264283C>T, NM_001040078.3:c.1008C>T, NM_001040078.2:c.1008C>T, XM_005256769.2:c.1005C>T, XM_005256769.1:c.1005C>T, XM_011523995.2:c.*5C>T, XM_011523995.1:c.*5C>T, XM_011523993.2:c.912C>T, XM_011523993.1:c.912C>T, XM_005256770.2:c.909C>T, XM_005256770.1:c.909C>T, XM_011523994.2:c.876C>T, XM_011523994.1:c.876C>T, XM_024450891.2:c.*5C>T, XM_024450891.1:c.*5C>T, XM_011523996.1:c.744C>T, XM_011523997.1:c.699C>T

Select item 14869606932.

rs1486960693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18494260 (GRCh38)
17:18397574 (GRCh37)
Canonical SPDI:: NC_000017.11:18494259:G:A
Gene:: LGALS9C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.18494260G>A, NC_000017.10:g.18397574G>A, NW_017363819.1:g.264239G>A, NM_001040078.3:c.964G>A, NM_001040078.2:c.964G>A, XM_005256769.2:c.961G>A, XM_005256769.1:c.961G>A, XM_011523995.2:c.876G>A, XM_011523995.1:c.876G>A, XM_011523993.2:c.868G>A, XM_011523993.1:c.868G>A, XM_011523994.2:c.832G>A, XM_011523994.1:c.832G>A, XM_005256770.2:c.865G>A, XM_005256770.1:c.865G>A, XM_024450891.2:c.777G>A, XM_024450891.1:c.777G>A, XM_011523996.1:c.700G>A, XM_011523997.1:c.655G>A, NP_001035167.2:p.Val322Met, XP_005256826.1:p.Val321Met, XP_011522295.1:p.Val290Met, XP_011522296.1:p.Val278Met, XP_005256827.1:p.Val289Met, XP_011522298.1:p.Val234Met, XP_011522299.1:p.Val219Met

Select item 14854864463.

rs1485486446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:18483903 (GRCh38)
17:18387217 (GRCh37)
Canonical SPDI:: NC_000017.11:18483902:G:A,NC_000017.11:18483902:G:C
Gene:: LGALS9C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.18483903G>A, NC_000017.11:g.18483903G>C, NC_000017.10:g.18387217G>A, NC_000017.10:g.18387217G>C, NW_017363819.1:g.253882G>A, NW_017363819.1:g.253882G>C, NM_001040078.3:c.68G>A, NM_001040078.3:c.68G>C, NM_001040078.2:c.68G>A, NM_001040078.2:c.68G>C, XM_005256769.2:c.68G>A, XM_005256769.2:c.68G>C, XM_005256769.1:c.68G>A, XM_005256769.1:c.68G>C, XM_011523995.2:c.68G>A, XM_011523995.2:c.68G>C, XM_011523995.1:c.68G>A, XM_011523995.1:c.68G>C, XM_011523993.2:c.68G>A, XM_011523993.2:c.68G>C, XM_011523993.1:c.68G>A, XM_011523993.1:c.68G>C, XM_005256770.2:c.68G>A, XM_005256770.2:c.68G>C, XM_005256770.1:c.68G>A, XM_005256770.1:c.68G>C, XM_011523994.2:c.68G>A, XM_011523994.2:c.68G>C, XM_011523994.1:c.68G>A, XM_011523994.1:c.68G>C, XM_024450891.2:c.68G>A, XM_024450891.2:c.68G>C, XM_024450891.1:c.68G>A, XM_024450891.1:c.68G>C, NP_001035167.2:p.Gly23Glu, NP_001035167.2:p.Gly23Ala, XP_005256826.1:p.Gly23Glu, XP_005256826.1:p.Gly23Ala, XP_011522297.1:p.Gly23Glu, XP_011522297.1:p.Gly23Ala, XP_011522295.1:p.Gly23Glu, XP_011522295.1:p.Gly23Ala, XP_005256827.1:p.Gly23Glu, XP_005256827.1:p.Gly23Ala, XP_011522296.1:p.Gly23Glu, XP_011522296.1:p.Gly23Ala, XP_024306659.1:p.Gly23Glu, XP_024306659.1:p.Gly23Ala

Select item 14839060594.

rs1483906059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18492743 (GRCh38)
17:18396057 (GRCh37)
Canonical SPDI:: NC_000017.11:18492742:A:G
Gene:: LGALS9C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18492743A>G, NC_000017.10:g.18396057A>G, NW_017363819.1:g.262722A>G, NM_001040078.3:c.808A>G, NM_001040078.2:c.808A>G, XM_005256769.2:c.805A>G, XM_005256769.1:c.805A>G, XM_011523993.2:c.712A>G, XM_011523993.1:c.712A>G, XM_005256770.2:c.709A>G, XM_005256770.1:c.709A>G, XM_011523994.2:c.676A>G, XM_011523994.1:c.676A>G, XM_011523996.1:c.544A>G, XM_011523997.1:c.499A>G, NP_001035167.2:p.Asn270Asp, XP_005256826.1:p.Asn269Asp, XP_011522295.1:p.Asn238Asp, XP_005256827.1:p.Asn237Asp, XP_011522296.1:p.Asn226Asp, XP_011522298.1:p.Asn182Asp, XP_011522299.1:p.Asn167Asp

Select item 14813143785.

rs1481314378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:18483966 (GRCh38)
17:18387280 (GRCh37)
Canonical SPDI:: NC_000017.11:18483965:G:T
Gene:: LGALS9C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.18483966G>T, NC_000017.10:g.18387280G>T, NW_017363819.1:g.253945G>T, NM_001040078.3:c.131G>T, NM_001040078.2:c.131G>T, XM_005256769.2:c.131G>T, XM_005256769.1:c.131G>T, XM_011523995.2:c.131G>T, XM_011523995.1:c.131G>T, XM_011523993.2:c.131G>T, XM_011523993.1:c.131G>T, XM_005256770.2:c.131G>T, XM_005256770.1:c.131G>T, XM_011523994.2:c.131G>T, XM_011523994.1:c.131G>T, XM_024450891.2:c.131G>T, XM_024450891.1:c.131G>T, NP_001035167.2:p.Arg44Met, XP_005256826.1:p.Arg44Met, XP_011522297.1:p.Arg44Met, XP_011522295.1:p.Arg44Met, XP_005256827.1:p.Arg44Met, XP_011522296.1:p.Arg44Met, XP_024306659.1:p.Arg44Met

Select item 14746465706.

rs1474646570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18486053 (GRCh38)
17:18389367 (GRCh37)
Canonical SPDI:: NC_000017.11:18486052:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18486053C>T, NC_000017.10:g.18389367C>T, NW_017363819.1:g.256032C>T, NM_001040078.3:c.251C>T, NM_001040078.2:c.251C>T, XM_005256769.2:c.251C>T, XM_005256769.1:c.251C>T, XM_011523995.2:c.251C>T, XM_011523995.1:c.251C>T, XM_011523993.2:c.251C>T, XM_011523993.1:c.251C>T, XM_005256770.2:c.251C>T, XM_005256770.1:c.251C>T, XM_011523994.2:c.251C>T, XM_011523994.1:c.251C>T, XM_024450891.2:c.251C>T, XM_024450891.1:c.251C>T, XM_011523996.1:c.-14C>T, NP_001035167.2:p.Pro84Leu, XP_005256826.1:p.Pro84Leu, XP_011522297.1:p.Pro84Leu, XP_011522295.1:p.Pro84Leu, XP_005256827.1:p.Pro84Leu, XP_011522296.1:p.Pro84Leu, XP_024306659.1:p.Pro84Leu

Select item 14731140657.

rs1473114065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18488978 (GRCh38)
17:18392292 (GRCh37)
Canonical SPDI:: NC_000017.11:18488977:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000024/3 (GnomAD)
HGVS:: NC_000017.11:g.18488978C>T, NC_000017.10:g.18392292C>T, NW_017363819.1:g.258957C>T, NM_001040078.3:c.482C>T, NM_001040078.2:c.482C>T, XM_005256769.2:c.482C>T, XM_005256769.1:c.482C>T, XM_011523995.2:c.482C>T, XM_011523995.1:c.482C>T, XM_011523996.1:c.218C>T, XM_011523997.1:c.173C>T, NP_001035167.2:p.Thr161Met, XP_005256826.1:p.Thr161Met, XP_011522297.1:p.Thr161Met, XP_011522298.1:p.Thr73Met, XP_011522299.1:p.Thr58Met

Select item 14667489738.

rs1466748973 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCAC [Show Flanks]
Chromosome:: 17:18488972 (GRCh38)
17:18392287 (GRCh37)
Canonical SPDI:: NC_000017.11:18488972:CTCCAC:CTCCACTCCAC
Gene:: LGALS9C (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.18488974_18488978dup, NC_000017.10:g.18392288_18392292dup, NW_017363819.1:g.258953_258957dup, NM_001040078.3:c.478_482dup, NM_001040078.2:c.478_482dup, XM_005256769.2:c.478_482dup, XM_005256769.1:c.478_482dup, XM_011523995.2:c.478_482dup, XM_011523995.1:c.478_482dup, XM_011523996.1:c.214_218dup, XM_011523997.1:c.169_173dup, NP_001035167.2:p.Val162fs, XP_005256826.1:p.Val162fs, XP_011522297.1:p.Val162fs, XP_011522298.1:p.Val74fs, XP_011522299.1:p.Val59fs

Select item 14614810539.

rs1461481053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18490765 (GRCh38)
17:18394079 (GRCh37)
Canonical SPDI:: NC_000017.11:18490764:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.18490765C>T, NC_000017.10:g.18394079C>T, NW_017363819.1:g.260744C>T, NM_001040078.3:c.573C>T, NM_001040078.2:c.573C>T, XM_005256769.2:c.573C>T, XM_005256769.1:c.573C>T, XM_011523995.2:c.573C>T, XM_011523995.1:c.573C>T, XM_011523993.2:c.477C>T, XM_011523993.1:c.477C>T, XM_005256770.2:c.477C>T, XM_005256770.1:c.477C>T, XM_024450891.2:c.477C>T, XM_024450891.1:c.477C>T, XM_011523996.1:c.309C>T, XM_011523997.1:c.264C>T

Select item 145841241010.

rs1458412410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18491284 (GRCh38)
17:18394598 (GRCh37)
Canonical SPDI:: NC_000017.11:18491283:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000064/8 (GnomAD)
HGVS:: NC_000017.11:g.18491284C>T, NC_000017.10:g.18394598C>T, NW_017363819.1:g.261263C>T, NM_001040078.3:c.588C>T, NM_001040078.2:c.588C>T, XM_005256769.2:c.588C>T, XM_005256769.1:c.588C>T, XM_011523995.2:c.588C>T, XM_011523995.1:c.588C>T, XM_011523993.2:c.492C>T, XM_011523993.1:c.492C>T, XM_005256770.2:c.492C>T, XM_005256770.1:c.492C>T, XM_011523994.2:c.456C>T, XM_011523994.1:c.456C>T, XM_024450891.2:c.492C>T, XM_024450891.1:c.492C>T, XM_011523996.1:c.324C>T, XM_011523997.1:c.279C>T

Select item 145637650211.

rs1456376502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18494365 (GRCh38)
17:18397679 (GRCh37)
Canonical SPDI:: NC_000017.11:18494364:T:C
Gene:: LGALS9C (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18494365T>C, NC_000017.10:g.18397679T>C, NW_017363819.1:g.264344T>C, NM_001040078.3:c.1069T>C, NM_001040078.2:c.1069T>C, XM_005256769.2:c.1066T>C, XM_005256769.1:c.1066T>C, XM_011523995.2:c.*66T>C, XM_011523995.1:c.*66T>C, XM_011523993.2:c.973T>C, XM_011523993.1:c.973T>C, XM_011523994.2:c.937T>C, XM_011523994.1:c.937T>C, XM_005256770.2:c.970T>C, XM_005256770.1:c.970T>C, XM_024450891.2:c.*66T>C, XM_024450891.1:c.*66T>C, XM_011523996.1:c.805T>C, XM_011523997.1:c.760T>C, NP_001035167.2:p.Ter357Gln, XP_005256826.1:p.Ter356Gln, XP_011522295.1:p.Ter325Gln, XP_011522296.1:p.Ter313Gln, XP_005256827.1:p.Ter324Gln, XP_011522298.1:p.Ter269Gln, XP_011522299.1:p.Ter254Gln

Select item 145501774912.

rs1455017749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18494300 (GRCh38)
17:18397614 (GRCh37)
Canonical SPDI:: NC_000017.11:18494299:G:A
Gene:: LGALS9C (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18494300G>A, NC_000017.10:g.18397614G>A, NW_017363819.1:g.264279G>A, NM_001040078.3:c.1004G>A, NM_001040078.2:c.1004G>A, XM_005256769.2:c.1001G>A, XM_005256769.1:c.1001G>A, XM_011523995.2:c.*1G>A, XM_011523995.1:c.*1G>A, XM_011523993.2:c.908G>A, XM_011523993.1:c.908G>A, XM_011523994.2:c.872G>A, XM_011523994.1:c.872G>A, XM_005256770.2:c.905G>A, XM_005256770.1:c.905G>A, XM_024450891.2:c.*1G>A, XM_024450891.1:c.*1G>A, XM_011523996.1:c.740G>A, XM_011523997.1:c.695G>A, NP_001035167.2:p.Arg335Lys, XP_005256826.1:p.Arg334Lys, XP_011522295.1:p.Arg303Lys, XP_011522296.1:p.Arg291Lys, XP_005256827.1:p.Arg302Lys, XP_011522298.1:p.Arg247Lys, XP_011522299.1:p.Arg232Lys

Select item 145004330813.

rs1450043308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18491301 (GRCh38)
17:18394615 (GRCh37)
Canonical SPDI:: NC_000017.11:18491300:G:A
Gene:: LGALS9C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.18491301G>A, NC_000017.10:g.18394615G>A, NW_017363819.1:g.261280G>A, NM_001040078.3:c.605G>A, NM_001040078.2:c.605G>A, XM_005256769.2:c.605G>A, XM_005256769.1:c.605G>A, XM_011523995.2:c.605G>A, XM_011523995.1:c.605G>A, XM_011523993.2:c.509G>A, XM_011523993.1:c.509G>A, XM_005256770.2:c.509G>A, XM_005256770.1:c.509G>A, XM_011523994.2:c.473G>A, XM_011523994.1:c.473G>A, XM_024450891.2:c.509G>A, XM_024450891.1:c.509G>A, XM_011523996.1:c.341G>A, XM_011523997.1:c.296G>A, NP_001035167.2:p.Ser202Asn, XP_005256826.1:p.Ser202Asn, XP_011522297.1:p.Ser202Asn, XP_011522295.1:p.Ser170Asn, XP_005256827.1:p.Ser170Asn, XP_011522296.1:p.Ser158Asn, XP_024306659.1:p.Ser170Asn, XP_011522298.1:p.Ser114Asn, XP_011522299.1:p.Ser99Asn

Select item 144736358014.

rs1447363580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:18492713 (GRCh38)
17:18396027 (GRCh37)
Canonical SPDI:: NC_000017.11:18492712:T:G
Gene:: LGALS9C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000024/3 (GnomAD)
HGVS:: NC_000017.11:g.18492713T>G, NC_000017.10:g.18396027T>G, NW_017363819.1:g.262692T>G, NM_001040078.3:c.778T>G, NM_001040078.2:c.778T>G, XM_005256769.2:c.775T>G, XM_005256769.1:c.775T>G, XM_011523993.2:c.682T>G, XM_011523993.1:c.682T>G, XM_011523994.2:c.646T>G, XM_011523994.1:c.646T>G, XM_005256770.2:c.679T>G, XM_005256770.1:c.679T>G, XM_011523996.1:c.514T>G, XM_011523997.1:c.469T>G, NP_001035167.2:p.Cys260Gly, XP_005256826.1:p.Cys259Gly, XP_011522295.1:p.Cys228Gly, XP_011522296.1:p.Cys216Gly, XP_005256827.1:p.Cys227Gly, XP_011522298.1:p.Cys172Gly, XP_011522299.1:p.Cys157Gly

Select item 144444126915.

rs1444441269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:18492797 (GRCh38)
17:18396111 (GRCh37)
Canonical SPDI:: NC_000017.11:18492796:T:C
Gene:: LGALS9C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18492797T>C, NC_000017.10:g.18396111T>C, NW_017363819.1:g.262776T>C, NM_001040078.3:c.862T>C, NM_001040078.2:c.862T>C, XM_005256769.2:c.859T>C, XM_005256769.1:c.859T>C, XM_011523995.2:c.774T>C, XM_011523995.1:c.774T>C, XM_011523993.2:c.766T>C, XM_011523993.1:c.766T>C, XM_005256770.2:c.763T>C, XM_005256770.1:c.763T>C, XM_011523994.2:c.730T>C, XM_011523994.1:c.730T>C, XM_024450891.2:c.675T>C, XM_024450891.1:c.675T>C, XM_011523996.1:c.598T>C, XM_011523997.1:c.553T>C, NP_001035167.2:p.Trp288Arg, XP_005256826.1:p.Trp287Arg, XP_011522295.1:p.Trp256Arg, XP_005256827.1:p.Trp255Arg, XP_011522296.1:p.Trp244Arg, XP_011522298.1:p.Trp200Arg, XP_011522299.1:p.Trp185Arg

Select item 143801029516.

rs1438010295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18487748 (GRCh38)
17:18391062 (GRCh37)
Canonical SPDI:: NC_000017.11:18487747:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.18487748C>T, NC_000017.10:g.18391062C>T, NW_017363819.1:g.257727C>T, NM_001040078.3:c.435C>T, NM_001040078.2:c.435C>T, XM_005256769.2:c.435C>T, XM_005256769.1:c.435C>T, XM_011523995.2:c.435C>T, XM_011523995.1:c.435C>T, XM_011523993.2:c.435C>T, XM_011523993.1:c.435C>T, XM_011523994.2:c.435C>T, XM_011523994.1:c.435C>T, XM_005256770.2:c.435C>T, XM_005256770.1:c.435C>T, XM_024450891.2:c.435C>T, XM_024450891.1:c.435C>T, XM_011523996.1:c.171C>T, XM_011523997.1:c.126C>T

Select item 143800503717.

rs1438005037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18486030 (GRCh38)
17:18389344 (GRCh37)
Canonical SPDI:: NC_000017.11:18486029:G:A
Gene:: LGALS9C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.18486030G>A, NC_000017.10:g.18389344G>A, NW_017363819.1:g.256009G>A, NM_001040078.3:c.228G>A, NM_001040078.2:c.228G>A, XM_005256769.2:c.228G>A, XM_005256769.1:c.228G>A, XM_011523995.2:c.228G>A, XM_011523995.1:c.228G>A, XM_011523993.2:c.228G>A, XM_011523993.1:c.228G>A, XM_005256770.2:c.228G>A, XM_005256770.1:c.228G>A, XM_011523994.2:c.228G>A, XM_011523994.1:c.228G>A, XM_024450891.2:c.228G>A, XM_024450891.1:c.228G>A, XM_011523996.1:c.-37G>A

Select item 143763666918.

rs1437636669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:18494292 (GRCh38)
17:18397606 (GRCh37)
Canonical SPDI:: NC_000017.11:18494291:T:G
Gene:: LGALS9C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.18494292T>G, NC_000017.10:g.18397606T>G, NW_017363819.1:g.264271T>G, NM_001040078.3:c.996T>G, NM_001040078.2:c.996T>G, XM_005256769.2:c.993T>G, XM_005256769.1:c.993T>G, XM_011523995.2:c.908T>G, XM_011523995.1:c.908T>G, XM_011523993.2:c.900T>G, XM_011523993.1:c.900T>G, XM_011523994.2:c.864T>G, XM_011523994.1:c.864T>G, XM_005256770.2:c.897T>G, XM_005256770.1:c.897T>G, XM_024450891.2:c.809T>G, XM_024450891.1:c.809T>G, XM_011523996.1:c.732T>G, XM_011523997.1:c.687T>G, NP_001035167.2:p.His332Gln, XP_005256826.1:p.His331Gln, XP_011522297.1:p.Ile303Ser, XP_011522295.1:p.His300Gln, XP_011522296.1:p.His288Gln, XP_005256827.1:p.His299Gln, XP_024306659.1:p.Ile270Ser, XP_011522298.1:p.His244Gln, XP_011522299.1:p.His229Gln

Select item 143357771119.

rs1433577711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:18487712 (GRCh38)
17:18391026 (GRCh37)
Canonical SPDI:: NC_000017.11:18487711:C:T
Gene:: LGALS9C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.18487712C>T, NC_000017.10:g.18391026C>T, NW_017363819.1:g.257691C>T, NM_001040078.3:c.399C>T, NM_001040078.2:c.399C>T, XM_005256769.2:c.399C>T, XM_005256769.1:c.399C>T, XM_011523995.2:c.399C>T, XM_011523995.1:c.399C>T, XM_011523993.2:c.399C>T, XM_011523993.1:c.399C>T, XM_011523994.2:c.399C>T, XM_011523994.1:c.399C>T, XM_005256770.2:c.399C>T, XM_005256770.1:c.399C>T, XM_024450891.2:c.399C>T, XM_024450891.1:c.399C>T, XM_011523996.1:c.135C>T, XM_011523997.1:c.90C>T

Select item 143235627620.

rs1432356276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18486071 (GRCh38)
17:18389385 (GRCh37)
Canonical SPDI:: NC_000017.11:18486070:A:G
Gene:: LGALS9C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.18486071A>G, NC_000017.10:g.18389385A>G, NW_017363819.1:g.256050A>G, NM_001040078.3:c.269A>G, NM_001040078.2:c.269A>G, XM_005256769.2:c.269A>G, XM_005256769.1:c.269A>G, XM_011523995.2:c.269A>G, XM_011523995.1:c.269A>G, XM_011523993.2:c.269A>G, XM_011523993.1:c.269A>G, XM_005256770.2:c.269A>G, XM_005256770.1:c.269A>G, XM_011523994.2:c.269A>G, XM_011523994.1:c.269A>G, XM_024450891.2:c.269A>G, XM_024450891.1:c.269A>G, XM_011523996.1:c.5A>G, NP_001035167.2:p.His90Arg, XP_005256826.1:p.His90Arg, XP_011522297.1:p.His90Arg, XP_011522295.1:p.His90Arg, XP_005256827.1:p.His90Arg, XP_011522296.1:p.His90Arg, XP_024306659.1:p.His90Arg, XP_011522298.1:p.His2Arg

dbSNP

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dbSNP

Result Filters

Validation Status

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Global MAF

Custom range

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Items: 1 to 20 of 389

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