SNP Links for Protein (Select 982742445) - SNP

Links from Protein

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Select item 14900395381.

rs1490039538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:158183965 (GRCh38)
1:158153755 (GRCh37)
Canonical SPDI:: NC_000001.11:158183964:G:T
Gene:: CD1D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158183965G>T, NC_000001.10:g.158153755G>T, NM_001766.4:c.916G>T, NM_001766.3:c.916G>T, NM_001371762.2:c.916G>T, NM_001371762.1:c.916G>T, NM_001319145.2:c.637G>T, NM_001319145.1:c.637G>T, NM_001371763.1:c.916G>T, NM_001371761.1:c.604G>T, NP_001757.1:p.Ala306Ser, NP_001358691.1:p.Ala306Ser, NP_001306074.1:p.Ala213Ser, NP_001358692.1:p.Ala306Ser, NP_001358690.1:p.Ala202Ser

Select item 14886860002.

rs1488686000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:158182071 (GRCh38)
1:158151861 (GRCh37)
Canonical SPDI:: NC_000001.11:158182070:A:C
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158182071A>C, NC_000001.10:g.158151861A>C, NM_001766.4:c.368A>C, NM_001766.3:c.368A>C, NM_001371762.2:c.368A>C, NM_001371762.1:c.368A>C, NM_001319145.2:c.368A>C, NM_001319145.1:c.368A>C, NM_001371763.1:c.368A>C, NM_001371761.1:c.56A>C, XM_047433945.1:c.368A>C, NP_001757.1:p.His123Pro, NP_001358691.1:p.His123Pro, NP_001306074.1:p.His123Pro, NP_001358692.1:p.His123Pro, NP_001358690.1:p.His19Pro, XP_047289901.1:p.His123Pro

Select item 14884791633.

rs1488479163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:158181686 (GRCh38)
1:158151476 (GRCh37)
Canonical SPDI:: NC_000001.11:158181685:A:G
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_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_000001.11:g.158181686A>G, NC_000001.10:g.158151476A>G, NM_001766.4:c.293A>G, NM_001766.3:c.293A>G, NM_001371762.2:c.293A>G, NM_001371762.1:c.293A>G, NM_001319145.2:c.293A>G, NM_001319145.1:c.293A>G, NM_001371763.1:c.293A>G, NM_001371761.1:c.-20A>G, XM_047433945.1:c.293A>G, NP_001757.1:p.Asp98Gly, NP_001358691.1:p.Asp98Gly, NP_001306074.1:p.Asp98Gly, NP_001358692.1:p.Asp98Gly, XP_047289901.1:p.Asp98Gly

Select item 14879259594.

rs1487925959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:158182310 (GRCh38)
1:158152100 (GRCh37)
Canonical SPDI:: NC_000001.11:158182309:G:A
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158182310G>A, NC_000001.10:g.158152100G>A, NM_001766.4:c.607G>A, NM_001766.3:c.607G>A, NM_001371762.2:c.607G>A, NM_001371762.1:c.607G>A, NM_001319145.2:c.607G>A, NM_001319145.1:c.607G>A, NM_001371763.1:c.607G>A, NM_001371761.1:c.295G>A, XM_047433945.1:c.607G>A, NP_001757.1:p.Val203Met, NP_001358691.1:p.Val203Met, NP_001306074.1:p.Gly203Ser, NP_001358692.1:p.Val203Met, NP_001358690.1:p.Val99Met, XP_047289901.1:p.Gly203Ser

Select item 14835085755.

rs1483508575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:158181587 (GRCh38)
1:158151377 (GRCh37)
Canonical SPDI:: NC_000001.11:158181586:T:C
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158181587T>C, NC_000001.10:g.158151377T>C, NM_001766.4:c.194T>C, NM_001766.3:c.194T>C, NM_001371762.2:c.194T>C, NM_001371762.1:c.194T>C, NM_001319145.2:c.194T>C, NM_001319145.1:c.194T>C, NM_001371763.1:c.194T>C, NM_001371761.1:c.-119T>C, XM_047433945.1:c.194T>C, NP_001757.1:p.Val65Ala, NP_001358691.1:p.Val65Ala, NP_001306074.1:p.Val65Ala, NP_001358692.1:p.Val65Ala, XP_047289901.1:p.Val65Ala

Select item 14829299476.

rs1482929947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:158182095 (GRCh38)
1:158151885 (GRCh37)
Canonical SPDI:: NC_000001.11:158182094:T:A
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.158182095T>A, NC_000001.10:g.158151885T>A, NM_001766.4:c.392T>A, NM_001766.3:c.392T>A, NM_001371762.2:c.392T>A, NM_001371762.1:c.392T>A, NM_001319145.2:c.392T>A, NM_001319145.1:c.392T>A, NM_001371763.1:c.392T>A, NM_001371761.1:c.80T>A, XM_047433945.1:c.392T>A, NP_001757.1:p.Phe131Tyr, NP_001358691.1:p.Phe131Tyr, NP_001306074.1:p.Phe131Tyr, NP_001358692.1:p.Phe131Tyr, NP_001358690.1:p.Phe27Tyr, XP_047289901.1:p.Phe131Tyr

Select item 14733499977.

rs1473349997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158184141 (GRCh38)
1:158153931 (GRCh37)
Canonical SPDI:: NC_000001.11:158184140:C:T
Gene:: CD1D (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.158184141C>T, NC_000001.10:g.158153931C>T, NM_001766.4:c.999C>T, NM_001766.3:c.999C>T, NM_001371762.2:c.999C>T, NM_001371762.1:c.999C>T, NM_001319145.2:c.720C>T, NM_001319145.1:c.720C>T, NM_001371763.1:c.999C>T, NM_001371761.1:c.687C>T

Select item 14730229568.

rs1473022956 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:158182125 (GRCh38)
1:158151915 (GRCh37)
Canonical SPDI:: NC_000001.11:158182124:T:A,NC_000001.11:158182124:T:C
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.158182125T>A, NC_000001.11:g.158182125T>C, NC_000001.10:g.158151915T>A, NC_000001.10:g.158151915T>C, NM_001766.4:c.422T>A, NM_001766.4:c.422T>C, NM_001766.3:c.422T>A, NM_001766.3:c.422T>C, NM_001371762.2:c.422T>A, NM_001371762.2:c.422T>C, NM_001371762.1:c.422T>A, NM_001371762.1:c.422T>C, NM_001319145.2:c.422T>A, NM_001319145.2:c.422T>C, NM_001319145.1:c.422T>A, NM_001319145.1:c.422T>C, NM_001371763.1:c.422T>A, NM_001371763.1:c.422T>C, NM_001371761.1:c.110T>A, NM_001371761.1:c.110T>C, XM_047433945.1:c.422T>A, XM_047433945.1:c.422T>C, NP_001757.1:p.Ile141Asn, NP_001757.1:p.Ile141Thr, NP_001358691.1:p.Ile141Asn, NP_001358691.1:p.Ile141Thr, NP_001306074.1:p.Ile141Asn, NP_001306074.1:p.Ile141Thr, NP_001358692.1:p.Ile141Asn, NP_001358692.1:p.Ile141Thr, NP_001358690.1:p.Ile37Asn, NP_001358690.1:p.Ile37Thr, XP_047289901.1:p.Ile141Asn, XP_047289901.1:p.Ile141Thr

Select item 14691656389.

rs1469165638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:158181700 (GRCh38)
1:158151490 (GRCh37)
Canonical SPDI:: NC_000001.11:158181699:G:A,NC_000001.11:158181699:G:T
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.158181700G>A, NC_000001.11:g.158181700G>T, NC_000001.10:g.158151490G>A, NC_000001.10:g.158151490G>T, NM_001766.4:c.307G>A, NM_001766.4:c.307G>T, NM_001766.3:c.307G>A, NM_001766.3:c.307G>T, NM_001371762.2:c.307G>A, NM_001371762.2:c.307G>T, NM_001371762.1:c.307G>A, NM_001371762.1:c.307G>T, NM_001319145.2:c.307G>A, NM_001319145.2:c.307G>T, NM_001319145.1:c.307G>A, NM_001319145.1:c.307G>T, NM_001371763.1:c.307G>A, NM_001371763.1:c.307G>T, NM_001371761.1:c.-6G>A, NM_001371761.1:c.-6G>T, XM_047433945.1:c.307G>A, XM_047433945.1:c.307G>T, NP_001757.1:p.Ala103Thr, NP_001757.1:p.Ala103Ser, NP_001358691.1:p.Ala103Thr, NP_001358691.1:p.Ala103Ser, NP_001306074.1:p.Ala103Thr, NP_001306074.1:p.Ala103Ser, NP_001358692.1:p.Ala103Thr, NP_001358692.1:p.Ala103Ser, XP_047289901.1:p.Ala103Thr, XP_047289901.1:p.Ala103Ser

Select item 146707533910.

rs1467075339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158181478 (GRCh38)
1:158151268 (GRCh37)
Canonical SPDI:: NC_000001.11:158181477:C:T
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.158181478C>T, NC_000001.10:g.158151268C>T, NM_001766.4:c.85C>T, NM_001766.3:c.85C>T, NM_001371762.2:c.85C>T, NM_001371762.1:c.85C>T, NM_001319145.2:c.85C>T, NM_001319145.1:c.85C>T, NM_001371763.1:c.85C>T, XM_047433945.1:c.85C>T, NP_001757.1:p.Arg29Cys, NP_001358691.1:p.Arg29Cys, NP_001306074.1:p.Arg29Cys, NP_001358692.1:p.Arg29Cys, XP_047289901.1:p.Arg29Cys

Select item 146509267111.

rs1465092671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158182183 (GRCh38)
1:158151973 (GRCh37)
Canonical SPDI:: NC_000001.11:158182182:C:T
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158182183C>T, NC_000001.10:g.158151973C>T, NM_001766.4:c.480C>T, NM_001766.3:c.480C>T, NM_001371762.2:c.480C>T, NM_001371762.1:c.480C>T, NM_001319145.2:c.480C>T, NM_001319145.1:c.480C>T, NM_001371763.1:c.480C>T, NM_001371761.1:c.168C>T, XM_047433945.1:c.480C>T

Select item 146471521812.

rs1464715218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:158182234 (GRCh38)
1:158152024 (GRCh37)
Canonical SPDI:: NC_000001.11:158182233:G:C
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.158182234G>C, NC_000001.10:g.158152024G>C, NM_001766.4:c.531G>C, NM_001766.3:c.531G>C, NM_001371762.2:c.531G>C, NM_001371762.1:c.531G>C, NM_001319145.2:c.531G>C, NM_001319145.1:c.531G>C, NM_001371763.1:c.531G>C, NM_001371761.1:c.219G>C, XM_047433945.1:c.531G>C, NP_001757.1:p.Gln177His, NP_001358691.1:p.Gln177His, NP_001306074.1:p.Gln177His, NP_001358692.1:p.Gln177His, NP_001358690.1:p.Gln73His, XP_047289901.1:p.Gln177His

Select item 146389534613.

rs1463895346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158182188 (GRCh38)
1:158151978 (GRCh37)
Canonical SPDI:: NC_000001.11:158182187:C:T
Gene:: CD1D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158182188C>T, NC_000001.10:g.158151978C>T, NM_001766.4:c.485C>T, NM_001766.3:c.485C>T, NM_001371762.2:c.485C>T, NM_001371762.1:c.485C>T, NM_001319145.2:c.485C>T, NM_001319145.1:c.485C>T, NM_001371763.1:c.485C>T, NM_001371761.1:c.173C>T, XM_047433945.1:c.485C>T, NP_001757.1:p.Ala162Val, NP_001358691.1:p.Ala162Val, NP_001306074.1:p.Ala162Val, NP_001358692.1:p.Ala162Val, NP_001358690.1:p.Ala58Val, XP_047289901.1:p.Ala162Val

Select item 145719405414.

rs1457194054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:158181652 (GRCh38)
1:158151442 (GRCh37)
Canonical SPDI:: NC_000001.11:158181651:A:G
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.158181652A>G, NC_000001.10:g.158151442A>G, NM_001766.4:c.259A>G, NM_001766.3:c.259A>G, NM_001371762.2:c.259A>G, NM_001371762.1:c.259A>G, NM_001319145.2:c.259A>G, NM_001319145.1:c.259A>G, NM_001371763.1:c.259A>G, NM_001371761.1:c.-54A>G, XM_047433945.1:c.259A>G, NP_001757.1:p.Ile87Val, NP_001358691.1:p.Ile87Val, NP_001306074.1:p.Ile87Val, NP_001358692.1:p.Ile87Val, XP_047289901.1:p.Ile87Val

Select item 145300406015.

rs1453004060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158184131 (GRCh38)
1:158153921 (GRCh37)
Canonical SPDI:: NC_000001.11:158184130:C:T
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000001.11:g.158184131C>T, NC_000001.10:g.158153921C>T, NM_001766.4:c.989C>T, NM_001766.3:c.989C>T, NM_001371762.2:c.989C>T, NM_001371762.1:c.989C>T, NM_001319145.2:c.710C>T, NM_001319145.1:c.710C>T, NM_001371763.1:c.989C>T, NM_001371761.1:c.677C>T, NP_001757.1:p.Ser330Phe, NP_001358691.1:p.Ser330Phe, NP_001306074.1:p.Ser237Phe, NP_001358692.1:p.Ser330Phe, NP_001358690.1:p.Ser226Phe

Select item 144230032016.

rs1442300320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:158182084 (GRCh38)
1:158151874 (GRCh37)
Canonical SPDI:: NC_000001.11:158182083:C:G,NC_000001.11:158182083:C:T
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.158182084C>G, NC_000001.11:g.158182084C>T, NC_000001.10:g.158151874C>G, NC_000001.10:g.158151874C>T, NM_001766.4:c.381C>G, NM_001766.4:c.381C>T, NM_001766.3:c.381C>G, NM_001766.3:c.381C>T, NM_001371762.2:c.381C>G, NM_001371762.2:c.381C>T, NM_001371762.1:c.381C>G, NM_001371762.1:c.381C>T, NM_001319145.2:c.381C>G, NM_001319145.2:c.381C>T, NM_001319145.1:c.381C>G, NM_001319145.1:c.381C>T, NM_001371763.1:c.381C>G, NM_001371763.1:c.381C>T, NM_001371761.1:c.69C>G, NM_001371761.1:c.69C>T, XM_047433945.1:c.381C>G, XM_047433945.1:c.381C>T

Select item 144192395317.

rs1441923953 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:158181158 (GRCh38)
1:158150948 (GRCh37)
Canonical SPDI:: NC_000001.11:158181157:TG:
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000006/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.158181158_158181159del, NC_000001.10:g.158150948_158150949del, NM_001766.4:c.57_58del, NM_001766.3:c.57_58del, NM_001371762.2:c.57_58del, NM_001371762.1:c.57_58del, NM_001319145.2:c.57_58del, NM_001319145.1:c.57_58del, NM_001371763.1:c.57_58del, NM_001371761.1:c.-221_-220del, XM_047433945.1:c.57_58del, NP_001757.1:p.Glu20fs, NP_001358691.1:p.Glu20fs, NP_001306074.1:p.Glu20fs, NP_001358692.1:p.Glu20fs, XP_047289901.1:p.Glu20fs

Select item 144007153718.

rs1440071537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:158183972 (GRCh38)
1:158153762 (GRCh37)
Canonical SPDI:: NC_000001.11:158183971:C:T
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000001.11:g.158183972C>T, NC_000001.10:g.158153762C>T, NM_001766.4:c.923C>T, NM_001766.3:c.923C>T, NM_001371762.2:c.923C>T, NM_001371762.1:c.923C>T, NM_001319145.2:c.644C>T, NM_001319145.1:c.644C>T, NM_001371763.1:c.923C>T, NM_001371761.1:c.611C>T, NP_001757.1:p.Ala308Val, NP_001358691.1:p.Ala308Val, NP_001306074.1:p.Ala215Val, NP_001358692.1:p.Ala308Val, NP_001358690.1:p.Ala204Val

Select item 143986153519.

rs1439861535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:158182166 (GRCh38)
1:158151956 (GRCh37)
Canonical SPDI:: NC_000001.11:158182165:G:A,NC_000001.11:158182165:G:T
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.158182166G>A, NC_000001.11:g.158182166G>T, NC_000001.10:g.158151956G>A, NC_000001.10:g.158151956G>T, NM_001766.4:c.463G>A, NM_001766.4:c.463G>T, NM_001766.3:c.463G>A, NM_001766.3:c.463G>T, NM_001371762.2:c.463G>A, NM_001371762.2:c.463G>T, NM_001371762.1:c.463G>A, NM_001371762.1:c.463G>T, NM_001319145.2:c.463G>A, NM_001319145.2:c.463G>T, NM_001319145.1:c.463G>A, NM_001319145.1:c.463G>T, NM_001371763.1:c.463G>A, NM_001371763.1:c.463G>T, NM_001371761.1:c.151G>A, NM_001371761.1:c.151G>T, XM_047433945.1:c.463G>A, XM_047433945.1:c.463G>T, NP_001757.1:p.Ala155Thr, NP_001757.1:p.Ala155Ser, NP_001358691.1:p.Ala155Thr, NP_001358691.1:p.Ala155Ser, NP_001306074.1:p.Ala155Thr, NP_001306074.1:p.Ala155Ser, NP_001358692.1:p.Ala155Thr, NP_001358692.1:p.Ala155Ser, NP_001358690.1:p.Ala51Thr, NP_001358690.1:p.Ala51Ser, XP_047289901.1:p.Ala155Thr, XP_047289901.1:p.Ala155Ser

Select item 143884387620.

rs1438843876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:158181600 (GRCh38)
1:158151390 (GRCh37)
Canonical SPDI:: NC_000001.11:158181599:G:T
Gene:: CD1D (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.158181600G>T, NC_000001.10:g.158151390G>T, NM_001766.4:c.207G>T, NM_001766.3:c.207G>T, NM_001371762.2:c.207G>T, NM_001371762.1:c.207G>T, NM_001319145.2:c.207G>T, NM_001319145.1:c.207G>T, NM_001371763.1:c.207G>T, NM_001371761.1:c.-106G>T, XM_047433945.1:c.207G>T, NP_001757.1:p.Lys69Asn, NP_001358691.1:p.Lys69Asn, NP_001306074.1:p.Lys69Asn, NP_001358692.1:p.Lys69Asn, XP_047289901.1:p.Lys69Asn

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