SNP Links for Protein (Select 93352551) - SNP

Links from Protein

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Select item 14901369381.

rs1490136938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100238201 (GRCh38)
10:101997958 (GRCh37)
Canonical SPDI:: NC_000010.11:100238200:A:G
Gene:: CWF19L1 (Varview), SNORA12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100238201A>G, NC_000010.10:g.101997958A>G, NG_041811.1:g.34481T>C, NM_018294.6:c.1075T>C, NM_018294.5:c.1075T>C, NM_018294.4:c.1075T>C, NM_001303405.2:c.664T>C, NM_001303405.1:c.664T>C, NM_001303404.2:c.1075T>C, NM_001303404.1:c.1075T>C, NM_001303407.2:c.340T>C, NM_001303407.1:c.340T>C, NM_001303406.2:c.664T>C, NM_001303406.1:c.664T>C, NP_060764.3:p.Ser359Pro, NP_001290334.1:p.Ser222Pro, NP_001290333.1:p.Ser359Pro, NP_001290336.1:p.Ser114Pro, NP_001290335.1:p.Ser222Pro

Select item 14899716252.

rs1489971625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100246934 (GRCh38)
10:102006691 (GRCh37)
Canonical SPDI:: NC_000010.11:100246933:T:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000010.11:g.100246934T>C, NC_000010.10:g.102006691T>C, NG_041811.1:g.25748A>G, NM_018294.6:c.710A>G, NM_018294.5:c.710A>G, NM_018294.4:c.710A>G, NM_001303405.2:c.299A>G, NM_001303405.1:c.299A>G, NM_001303404.2:c.710A>G, NM_001303404.1:c.710A>G, NM_001303407.2:c.-26A>G, NM_001303407.1:c.-26A>G, NM_001303406.2:c.299A>G, NM_001303406.1:c.299A>G, NP_060764.3:p.Tyr237Cys, NP_001290334.1:p.Tyr100Cys, NP_001290333.1:p.Tyr237Cys, NP_001290335.1:p.Tyr100Cys

Select item 14881192973.

rs1488119297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100253470 (GRCh38)
10:102013227 (GRCh37)
Canonical SPDI:: NC_000010.11:100253469:A:G
Gene:: CWF19L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.100253470A>G, NC_000010.10:g.102013227A>G, NG_041811.1:g.19212T>C, NM_018294.6:c.574T>C, NM_018294.5:c.574T>C, NM_018294.4:c.574T>C, NM_001303405.2:c.163T>C, NM_001303405.1:c.163T>C, NM_001303404.2:c.574T>C, NM_001303404.1:c.574T>C, NM_001303407.2:c.-162T>C, NM_001303407.1:c.-162T>C, NM_001303406.2:c.163T>C, NM_001303406.1:c.163T>C, NP_060764.3:p.Tyr192His, NP_001290334.1:p.Tyr55His, NP_001290333.1:p.Tyr192His, NP_001290335.1:p.Tyr55His

Select item 14879017574.

rs1487901757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100260307 (GRCh38)
10:102020064 (GRCh37)
Canonical SPDI:: NC_000010.11:100260306:G:A
Gene:: CWF19L1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100260307G>A, NC_000010.10:g.102020064G>A, NG_041811.1:g.12375C>T, NM_018294.6:c.200C>T, NM_018294.5:c.200C>T, NM_018294.4:c.200C>T, NM_001303405.2:c.-212C>T, NM_001303405.1:c.-212C>T, NM_001303404.2:c.200C>T, NM_001303404.1:c.200C>T, NM_001303407.2:c.-321C>T, NM_001303407.1:c.-321C>T, NP_060764.3:p.Thr67Ile, NP_001290333.1:p.Thr67Ile

Select item 14841227435.

rs1484122743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100261040 (GRCh38)
10:102020797 (GRCh37)
Canonical SPDI:: NC_000010.11:100261039:A:G
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.100261040A>G, NC_000010.10:g.102020797A>G, NG_041811.1:g.11642T>C, NM_018294.6:c.113T>C, NM_018294.5:c.113T>C, NM_018294.4:c.113T>C, NM_001303405.2:c.-299T>C, NM_001303405.1:c.-299T>C, NM_001303404.2:c.113T>C, NM_001303404.1:c.113T>C, NP_060764.3:p.Leu38Pro, NP_001290333.1:p.Leu38Pro

Select item 14824011296.

rs1482401129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100256465 (GRCh38)
10:102016222 (GRCh37)
Canonical SPDI:: NC_000010.11:100256464:T:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100256465T>C, NC_000010.10:g.102016222T>C, NG_041811.1:g.16217A>G, NM_018294.6:c.301A>G, NM_018294.5:c.301A>G, NM_018294.4:c.301A>G, NM_001303405.2:c.-111A>G, NM_001303405.1:c.-111A>G, NM_001303404.2:c.301A>G, NM_001303404.1:c.301A>G, NM_001303406.2:c.-111A>G, NM_001303406.1:c.-111A>G, NP_060764.3:p.Ile101Val, NP_001290333.1:p.Ile101Val

Select item 14816783457.

rs1481678345 [Homo sapiens]

Variant type:: DEL
Alleles:: CAT>- [Show Flanks]
Chromosome:: 10:100253517 (GRCh38)
10:102013274 (GRCh37)
Canonical SPDI:: NC_000010.11:100253516:CAT:
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100253517_100253519del, NC_000010.10:g.102013274_102013276del, NG_041811.1:g.19163_19165del, NM_018294.6:c.525_527del, NM_018294.5:c.525_527del, NM_018294.4:c.525_527del, NM_001303405.2:c.114_116del, NM_001303405.1:c.114_116del, NM_001303404.2:c.525_527del, NM_001303404.1:c.525_527del, NM_001303407.2:c.-211_-209del, NM_001303407.1:c.-211_-209del, NM_001303406.2:c.114_116del, NM_001303406.1:c.114_116del, NP_060764.3:p.Lys175_Cys176delinsAsn, NP_001290334.1:p.Lys38_Cys39delinsAsn, NP_001290333.1:p.Lys175_Cys176delinsAsn, NP_001290335.1:p.Lys38_Cys39delinsAsn

Select item 14806316088.

rs1480631608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:100246926 (GRCh38)
10:102006683 (GRCh37)
Canonical SPDI:: NC_000010.11:100246925:C:A,NC_000010.11:100246925:C:T
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.100246926C>A, NC_000010.11:g.100246926C>T, NC_000010.10:g.102006683C>A, NC_000010.10:g.102006683C>T, NG_041811.1:g.25756G>T, NG_041811.1:g.25756G>A, NM_018294.6:c.718G>T, NM_018294.6:c.718G>A, NM_018294.5:c.718G>T, NM_018294.5:c.718G>A, NM_018294.4:c.718G>T, NM_018294.4:c.718G>A, NM_001303405.2:c.307G>T, NM_001303405.2:c.307G>A, NM_001303405.1:c.307G>T, NM_001303405.1:c.307G>A, NM_001303404.2:c.718G>T, NM_001303404.2:c.718G>A, NM_001303404.1:c.718G>T, NM_001303404.1:c.718G>A, NM_001303407.2:c.-18G>T, NM_001303407.2:c.-18G>A, NM_001303407.1:c.-18G>T, NM_001303407.1:c.-18G>A, NM_001303406.2:c.307G>T, NM_001303406.2:c.307G>A, NM_001303406.1:c.307G>T, NM_001303406.1:c.307G>A, NP_060764.3:p.Ala240Ser, NP_060764.3:p.Ala240Thr, NP_001290334.1:p.Ala103Ser, NP_001290334.1:p.Ala103Thr, NP_001290333.1:p.Ala240Ser, NP_001290333.1:p.Ala240Thr, NP_001290335.1:p.Ala103Ser, NP_001290335.1:p.Ala103Thr

Select item 14790302929.

rs1479030292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100262042 (GRCh38)
10:102021799 (GRCh37)
Canonical SPDI:: NC_000010.11:100262041:T:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100262042T>C, NC_000010.10:g.102021799T>C, NG_041811.1:g.10640A>G, NM_018294.6:c.45A>G, NM_018294.5:c.45A>G, NM_018294.4:c.45A>G, NM_001303405.2:c.-367A>G, NM_001303405.1:c.-367A>G, NM_001303404.2:c.45A>G, NM_001303404.1:c.45A>G, NM_001303407.2:c.-460A>G, NM_001303407.1:c.-460A>G

Select item 147480716610.

rs1474807166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:100246799 (GRCh38)
10:102006556 (GRCh37)
Canonical SPDI:: NC_000010.11:100246798:G:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100246799G>C, NC_000010.10:g.102006556G>C, NG_041811.1:g.25883C>G, NM_018294.6:c.845C>G, NM_018294.5:c.845C>G, NM_018294.4:c.845C>G, NM_001303405.2:c.434C>G, NM_001303405.1:c.434C>G, NM_001303404.2:c.845C>G, NM_001303404.1:c.845C>G, NM_001303407.2:c.110C>G, NM_001303407.1:c.110C>G, NM_001303406.2:c.434C>G, NM_001303406.1:c.434C>G, NP_060764.3:p.Pro282Arg, NP_001290334.1:p.Pro145Arg, NP_001290333.1:p.Pro282Arg, NP_001290336.1:p.Pro37Arg, NP_001290335.1:p.Pro145Arg

Select item 147267405911.

rs1472674059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100261041 (GRCh38)
10:102020798 (GRCh37)
Canonical SPDI:: NC_000010.11:100261040:G:A
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100261041G>A, NC_000010.10:g.102020798G>A, NG_041811.1:g.11641C>T, NM_018294.6:c.112C>T, NM_018294.5:c.112C>T, NM_018294.4:c.112C>T, NM_001303405.2:c.-300C>T, NM_001303405.1:c.-300C>T, NM_001303404.2:c.112C>T, NM_001303404.1:c.112C>T

Select item 147139171212.

rs1471391712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100261030 (GRCh38)
10:102020787 (GRCh37)
Canonical SPDI:: NC_000010.11:100261029:T:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,splice_acceptor_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100261030T>C, NC_000010.10:g.102020787T>C, NG_041811.1:g.11652A>G, NM_018294.6:c.123A>G, NM_018294.5:c.123A>G, NM_018294.4:c.123A>G, NM_001303405.2:c.-289A>G, NM_001303405.1:c.-289A>G, NM_001303404.2:c.123A>G, NM_001303404.1:c.123A>G

Select item 146856568613.

rs1468565686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100238212 (GRCh38)
10:101997969 (GRCh37)
Canonical SPDI:: NC_000010.11:100238211:T:C
Gene:: CWF19L1 (Varview), SNORA12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100238212T>C, NC_000010.10:g.101997969T>C, NG_041811.1:g.34470A>G, NM_018294.6:c.1064A>G, NM_018294.5:c.1064A>G, NM_018294.4:c.1064A>G, NM_001303405.2:c.653A>G, NM_001303405.1:c.653A>G, NM_001303404.2:c.1064A>G, NM_001303404.1:c.1064A>G, NM_001303407.2:c.329A>G, NM_001303407.1:c.329A>G, NM_001303406.2:c.653A>G, NM_001303406.1:c.653A>G, NP_060764.3:p.Lys355Arg, NP_001290334.1:p.Lys218Arg, NP_001290333.1:p.Lys355Arg, NP_001290336.1:p.Lys110Arg, NP_001290335.1:p.Lys218Arg

Select item 146818376514.

rs1468183765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:100238082 (GRCh38)
10:101997839 (GRCh37)
Canonical SPDI:: NC_000010.11:100238081:A:T
Gene:: CWF19L1 (Varview), SNORA12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.100238082A>T, NC_000010.10:g.101997839A>T, NG_041811.1:g.34600T>A, NM_018294.6:c.1194T>A, NM_018294.5:c.1194T>A, NM_018294.4:c.1194T>A, NM_001303405.2:c.783T>A, NM_001303405.1:c.783T>A, NM_001303404.2:c.1194T>A, NM_001303404.1:c.1194T>A, NM_001303407.2:c.459T>A, NM_001303407.1:c.459T>A, NM_001303406.2:c.783T>A, NM_001303406.1:c.783T>A, NP_060764.3:p.Ser398Arg, NP_001290334.1:p.Ser261Arg, NP_001290333.1:p.Ser398Arg, NP_001290336.1:p.Ser153Arg, NP_001290335.1:p.Ser261Arg

Select item 146661947715.

rs1466619477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:100233251 (GRCh38)
10:101993008 (GRCh37)
Canonical SPDI:: NC_000010.11:100233250:G:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100233251G>C, NC_000010.10:g.101993008G>C, NG_028023.1:g.1337C>G, NG_041811.1:g.39431C>G, NM_018294.6:c.1593C>G, NM_018294.5:c.1593C>G, NM_018294.4:c.1593C>G, NM_001303405.2:c.1182C>G, NM_001303405.1:c.1182C>G, NM_001303404.2:c.1473C>G, NM_001303404.1:c.1473C>G, NM_001303407.2:c.858C>G, NM_001303407.1:c.858C>G, NM_001303406.2:c.1182C>G, NM_001303406.1:c.1182C>G

Select item 146215873416.

rs1462158734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100260313 (GRCh38)
10:102020070 (GRCh37)
Canonical SPDI:: NC_000010.11:100260312:A:G
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100260313A>G, NC_000010.10:g.102020070A>G, NG_041811.1:g.12369T>C, NM_018294.6:c.194T>C, NM_018294.5:c.194T>C, NM_018294.4:c.194T>C, NM_001303405.2:c.-218T>C, NM_001303405.1:c.-218T>C, NM_001303404.2:c.194T>C, NM_001303404.1:c.194T>C, NM_001303407.2:c.-327T>C, NM_001303407.1:c.-327T>C, NP_060764.3:p.Ile65Thr, NP_001290333.1:p.Ile65Thr

Select item 146163269017.

rs1461632690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:100256371 (GRCh38)
10:102016128 (GRCh37)
Canonical SPDI:: NC_000010.11:100256370:T:A,NC_000010.11:100256370:T:C
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100256371T>A, NC_000010.11:g.100256371T>C, NC_000010.10:g.102016128T>A, NC_000010.10:g.102016128T>C, NG_041811.1:g.16311A>T, NG_041811.1:g.16311A>G, NM_018294.6:c.395A>T, NM_018294.6:c.395A>G, NM_018294.5:c.395A>T, NM_018294.5:c.395A>G, NM_018294.4:c.395A>T, NM_018294.4:c.395A>G, NM_001303405.2:c.-17A>T, NM_001303405.2:c.-17A>G, NM_001303405.1:c.-17A>T, NM_001303405.1:c.-17A>G, NM_001303404.2:c.395A>T, NM_001303404.2:c.395A>G, NM_001303404.1:c.395A>T, NM_001303404.1:c.395A>G, NM_001303406.2:c.-17A>T, NM_001303406.2:c.-17A>G, NM_001303406.1:c.-17A>T, NM_001303406.1:c.-17A>G, NP_060764.3:p.Asp132Val, NP_060764.3:p.Asp132Gly, NP_001290333.1:p.Asp132Val, NP_001290333.1:p.Asp132Gly

Select item 146002898418.

rs1460028984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100246822 (GRCh38)
10:102006579 (GRCh37)
Canonical SPDI:: NC_000010.11:100246821:G:A
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.100246822G>A, NC_000010.10:g.102006579G>A, NG_041811.1:g.25860C>T, NM_018294.6:c.822C>T, NM_018294.5:c.822C>T, NM_018294.4:c.822C>T, NM_001303405.2:c.411C>T, NM_001303405.1:c.411C>T, NM_001303404.2:c.822C>T, NM_001303404.1:c.822C>T, NM_001303407.2:c.87C>T, NM_001303407.1:c.87C>T, NM_001303406.2:c.411C>T, NM_001303406.1:c.411C>T

Select item 145881393519.

rs1458813935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:100256350 (GRCh38)
10:102016107 (GRCh37)
Canonical SPDI:: NC_000010.11:100256349:A:C,NC_000010.11:100256349:A:G
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100256350A>C, NC_000010.11:g.100256350A>G, NC_000010.10:g.102016107A>C, NC_000010.10:g.102016107A>G, NG_041811.1:g.16332T>G, NG_041811.1:g.16332T>C, NM_018294.6:c.416T>G, NM_018294.6:c.416T>C, NM_018294.5:c.416T>G, NM_018294.5:c.416T>C, NM_018294.4:c.416T>G, NM_018294.4:c.416T>C, NM_001303405.2:c.5T>G, NM_001303405.2:c.5T>C, NM_001303405.1:c.5T>G, NM_001303405.1:c.5T>C, NM_001303404.2:c.416T>G, NM_001303404.2:c.416T>C, NM_001303404.1:c.416T>G, NM_001303404.1:c.416T>C, NM_001303406.2:c.5T>G, NM_001303406.2:c.5T>C, NM_001303406.1:c.5T>G, NM_001303406.1:c.5T>C, NP_060764.3:p.Met139Arg, NP_060764.3:p.Met139Thr, NP_001290334.1:p.Met2Arg, NP_001290334.1:p.Met2Thr, NP_001290333.1:p.Met139Arg, NP_001290333.1:p.Met139Thr, NP_001290335.1:p.Met2Arg, NP_001290335.1:p.Met2Thr

Select item 145826848920.

rs1458268489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:100267582 (GRCh38)
10:102027339 (GRCh37)
Canonical SPDI:: NC_000010.11:100267581:T:C,NC_000010.11:100267581:T:G
Gene:: CWF19L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
G=0.001638/3 (Korea1K)
HGVS:: NC_000010.11:g.100267582T>C, NC_000010.11:g.100267582T>G, NC_000010.10:g.102027339T>C, NC_000010.10:g.102027339T>G, NG_041811.1:g.5100A>G, NG_041811.1:g.5100A>C, NM_018294.6:c.12A>G, NM_018294.6:c.12A>C, NM_018294.5:c.12A>G, NM_018294.5:c.12A>C, NM_018294.4:c.12A>G, NM_018294.4:c.12A>C, NM_001303405.2:c.-445A>G, NM_001303405.2:c.-445A>C, NM_001303405.1:c.-445A>G, NM_001303405.1:c.-445A>C, NM_001303404.2:c.12A>G, NM_001303404.2:c.12A>C, NM_001303404.1:c.12A>G, NM_001303404.1:c.12A>C, NM_001303407.2:c.-493A>G, NM_001303407.2:c.-493A>C, NM_001303407.1:c.-493A>G, NM_001303407.1:c.-493A>C, NM_001303406.2:c.-134A>G, NM_001303406.2:c.-134A>C, NM_001303406.1:c.-134A>G, NM_001303406.1:c.-134A>C, NP_060764.3:p.Lys4Asn, NP_001290333.1:p.Lys4Asn

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