SNP Links for Protein (Select 767963165) - SNP

Links from Protein

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Select item 14772889211.

rs1477288921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:121967760 (GRCh38)
10:123727275 (GRCh37)
Canonical SPDI:: NC_000010.11:121967759:C:A,NC_000010.11:121967759:C:G,NC_000010.11:121967759:C:T
Gene:: NSMCE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.121967760C>A, NC_000010.11:g.121967760C>G, NC_000010.11:g.121967760C>T, NC_000010.10:g.123727275C>A, NC_000010.10:g.123727275C>G, NC_000010.10:g.123727275C>T, XM_005269930.5:c.71G>T, XM_005269930.5:c.71G>C, XM_005269930.5:c.71G>A, XM_005269930.4:c.71G>T, XM_005269930.4:c.71G>C, XM_005269930.4:c.71G>A, XM_005269930.3:c.71G>T, XM_005269930.3:c.71G>C, XM_005269930.3:c.71G>A, XM_005269930.2:c.71G>T, XM_005269930.2:c.71G>C, XM_005269930.2:c.71G>A, XM_005269930.1:c.71G>T, XM_005269930.1:c.71G>C, XM_005269930.1:c.71G>A, XM_005269929.5:c.71G>T, XM_005269929.5:c.71G>C, XM_005269929.5:c.71G>A, XM_005269929.4:c.71G>T, XM_005269929.4:c.71G>C, XM_005269929.4:c.71G>A, XM_005269929.3:c.71G>T, XM_005269929.3:c.71G>C, XM_005269929.3:c.71G>A, XM_005269929.2:c.71G>T, XM_005269929.2:c.71G>C, XM_005269929.2:c.71G>A, XM_005269929.1:c.71G>T, XM_005269929.1:c.71G>C, XM_005269929.1:c.71G>A, XR_428706.4:n.600G>T, XR_428706.4:n.600G>C, XR_428706.4:n.600G>A, XR_428706.3:n.611G>T, XR_428706.3:n.611G>C, XR_428706.3:n.611G>A, XR_428706.2:n.611G>T, XR_428706.2:n.611G>C, XR_428706.2:n.611G>A, XR_428706.1:n.611G>T, XR_428706.1:n.611G>C, XR_428706.1:n.611G>A, XM_011539910.3:c.71G>T, XM_011539910.3:c.71G>C, XM_011539910.3:c.71G>A, XM_011539910.2:c.71G>T, XM_011539910.2:c.71G>C, XM_011539910.2:c.71G>A, XM_011539910.1:c.71G>T, XM_011539910.1:c.71G>C, XM_011539910.1:c.71G>A, NM_017615.3:c.548G>T, NM_017615.3:c.548G>C, NM_017615.3:c.548G>A, NM_017615.2:c.548G>T, NM_017615.2:c.548G>C, NM_017615.2:c.548G>A, NM_001167865.2:c.548G>T, NM_001167865.2:c.548G>C, NM_001167865.2:c.548G>A, NM_001167865.1:c.548G>T, NM_001167865.1:c.548G>C, NM_001167865.1:c.548G>A, XM_017016359.2:c.71G>T, XM_017016359.2:c.71G>C, XM_017016359.2:c.71G>A, XM_017016359.1:c.71G>T, XM_017016359.1:c.71G>C, XM_017016359.1:c.71G>A, XM_047425399.1:c.548G>T, XM_047425399.1:c.548G>C, XM_047425399.1:c.548G>A, XM_047425400.1:c.548G>T, XM_047425400.1:c.548G>C, XM_047425400.1:c.548G>A, NM_001411073.1:c.548G>T, NM_001411073.1:c.548G>C, NM_001411073.1:c.548G>A, XP_005269987.1:p.Arg24Leu, XP_005269987.1:p.Arg24Pro, XP_005269987.1:p.Arg24His, XP_005269986.1:p.Arg24Leu, XP_005269986.1:p.Arg24Pro, XP_005269986.1:p.Arg24His, XP_011538212.1:p.Arg24Leu, XP_011538212.1:p.Arg24Pro, XP_011538212.1:p.Arg24His, NP_060085.2:p.Arg183Leu, NP_060085.2:p.Arg183Pro, NP_060085.2:p.Arg183His, NP_001161337.1:p.Arg183Leu, NP_001161337.1:p.Arg183Pro, NP_001161337.1:p.Arg183His, XP_016871848.1:p.Arg24Leu, XP_016871848.1:p.Arg24Pro, XP_016871848.1:p.Arg24His, XP_047281355.1:p.Arg183Leu, XP_047281355.1:p.Arg183Pro, XP_047281355.1:p.Arg183His, XP_047281356.1:p.Arg183Leu, XP_047281356.1:p.Arg183Pro, XP_047281356.1:p.Arg183His

Select item 14757090152.

rs1475709015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:121963274 (GRCh38)
10:123722789 (GRCh37)
Canonical SPDI:: NC_000010.11:121963273:T:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121963274T>G, NC_000010.10:g.123722789T>G, XM_005269930.5:c.331A>C, XM_005269930.4:c.331A>C, XM_005269930.3:c.331A>C, XM_005269930.2:c.331A>C, XM_005269930.1:c.331A>C, XM_005269929.5:c.331A>C, XM_005269929.4:c.331A>C, XM_005269929.3:c.331A>C, XM_005269929.2:c.331A>C, XM_005269929.1:c.331A>C, XR_428706.4:n.860A>C, XR_428706.3:n.871A>C, XR_428706.2:n.871A>C, XR_428706.1:n.871A>C, XM_011539910.3:c.331A>C, XM_011539910.2:c.331A>C, XM_011539910.1:c.331A>C, NM_017615.3:c.808A>C, NM_017615.2:c.808A>C, NM_001167865.2:c.808A>C, NM_001167865.1:c.808A>C, XM_017016359.2:c.331A>C, XM_017016359.1:c.331A>C, XM_047425399.1:c.808A>C, XM_047425400.1:c.808A>C, NM_001411073.1:c.808A>C, XP_005269987.1:p.Ile111Leu, XP_005269986.1:p.Ile111Leu, XP_011538212.1:p.Ile111Leu, NP_060085.2:p.Ile270Leu, NP_001161337.1:p.Ile270Leu, XP_016871848.1:p.Ile111Leu, XP_047281355.1:p.Ile270Leu, XP_047281356.1:p.Ile270Leu

Select item 14718770013.

rs1471877001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:121959572 (GRCh38)
10:123719087 (GRCh37)
Canonical SPDI:: NC_000010.11:121959571:T:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.121959572T>G, NC_000010.10:g.123719087T>G, XM_005269930.5:c.535A>C, XM_005269930.4:c.535A>C, XM_005269930.3:c.535A>C, XM_005269930.2:c.535A>C, XM_005269930.1:c.535A>C, XM_005269929.5:c.535A>C, XM_005269929.4:c.535A>C, XM_005269929.3:c.535A>C, XM_005269929.2:c.535A>C, XM_005269929.1:c.535A>C, XM_011539910.3:c.535A>C, XM_011539910.2:c.535A>C, XM_011539910.1:c.535A>C, NM_017615.3:c.1012A>C, NM_017615.2:c.1012A>C, NM_001167865.2:c.1012A>C, NM_001167865.1:c.1012A>C, XM_017016359.2:c.535A>C, XM_017016359.1:c.535A>C, XP_005269987.1:p.Asn179His, XP_005269986.1:p.Asn179His, XP_011538212.1:p.Asn179His, NP_060085.2:p.Asn338His, NP_001161337.1:p.Asn338His, XP_016871848.1:p.Asn179His

Select item 14625187184.

rs1462518718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:121959523 (GRCh38)
10:123719038 (GRCh37)
Canonical SPDI:: NC_000010.11:121959522:G:A,NC_000010.11:121959522:G:T
Gene:: NSMCE4A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.121959523G>A, NC_000010.11:g.121959523G>T, NC_000010.10:g.123719038G>A, NC_000010.10:g.123719038G>T, XM_005269930.5:c.584C>T, XM_005269930.5:c.584C>A, XM_005269930.4:c.584C>T, XM_005269930.4:c.584C>A, XM_005269930.3:c.584C>T, XM_005269930.3:c.584C>A, XM_005269930.2:c.584C>T, XM_005269930.2:c.584C>A, XM_005269930.1:c.584C>T, XM_005269930.1:c.584C>A, XM_005269929.5:c.584C>T, XM_005269929.5:c.584C>A, XM_005269929.4:c.584C>T, XM_005269929.4:c.584C>A, XM_005269929.3:c.584C>T, XM_005269929.3:c.584C>A, XM_005269929.2:c.584C>T, XM_005269929.2:c.584C>A, XM_005269929.1:c.584C>T, XM_005269929.1:c.584C>A, XM_011539910.3:c.584C>T, XM_011539910.3:c.584C>A, XM_011539910.2:c.584C>T, XM_011539910.2:c.584C>A, XM_011539910.1:c.584C>T, XM_011539910.1:c.584C>A, NM_017615.3:c.1061C>T, NM_017615.3:c.1061C>A, NM_017615.2:c.1061C>T, NM_017615.2:c.1061C>A, NM_001167865.2:c.1061C>T, NM_001167865.2:c.1061C>A, NM_001167865.1:c.1061C>T, NM_001167865.1:c.1061C>A, XM_017016359.2:c.584C>T, XM_017016359.2:c.584C>A, XM_017016359.1:c.584C>T, XM_017016359.1:c.584C>A, XP_005269987.1:p.Ala195Val, XP_005269987.1:p.Ala195Asp, XP_005269986.1:p.Ala195Val, XP_005269986.1:p.Ala195Asp, XP_011538212.1:p.Ala195Val, XP_011538212.1:p.Ala195Asp, NP_060085.2:p.Ala354Val, NP_060085.2:p.Ala354Asp, NP_001161337.1:p.Ala354Val, NP_001161337.1:p.Ala354Asp, XP_016871848.1:p.Ala195Val, XP_016871848.1:p.Ala195Asp

Select item 14548740025.

rs1454874002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:121961495 (GRCh38)
10:123721010 (GRCh37)
Canonical SPDI:: NC_000010.11:121961494:A:C
Gene:: NSMCE4A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.121961495A>C, NC_000010.10:g.123721010A>C, XM_005269930.5:c.390T>G, XM_005269930.4:c.390T>G, XM_005269930.3:c.390T>G, XM_005269930.2:c.390T>G, XM_005269930.1:c.390T>G, XM_005269929.5:c.390T>G, XM_005269929.4:c.390T>G, XM_005269929.3:c.390T>G, XM_005269929.2:c.390T>G, XM_005269929.1:c.390T>G, XR_428706.4:n.919T>G, XR_428706.3:n.930T>G, XR_428706.2:n.930T>G, XR_428706.1:n.930T>G, XM_011539910.3:c.390T>G, XM_011539910.2:c.390T>G, XM_011539910.1:c.390T>G, NM_017615.3:c.867T>G, NM_017615.2:c.867T>G, NM_001167865.2:c.867T>G, NM_001167865.1:c.867T>G, XM_017016359.2:c.390T>G, XM_017016359.1:c.390T>G, XM_047425399.1:c.867T>G, XP_005269987.1:p.Phe130Leu, XP_005269986.1:p.Phe130Leu, XP_011538212.1:p.Phe130Leu, NP_060085.2:p.Phe289Leu, NP_001161337.1:p.Phe289Leu, XP_016871848.1:p.Phe130Leu, XP_047281355.1:p.Phe289Leu

Select item 14455629426.

rs1445562942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:121961471 (GRCh38)
10:123720986 (GRCh37)
Canonical SPDI:: NC_000010.11:121961470:A:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121961471A>G, NC_000010.10:g.123720986A>G, XM_005269930.5:c.414T>C, XM_005269930.4:c.414T>C, XM_005269930.3:c.414T>C, XM_005269930.2:c.414T>C, XM_005269930.1:c.414T>C, XM_005269929.5:c.414T>C, XM_005269929.4:c.414T>C, XM_005269929.3:c.414T>C, XM_005269929.2:c.414T>C, XM_005269929.1:c.414T>C, XR_428706.4:n.943T>C, XR_428706.3:n.954T>C, XR_428706.2:n.954T>C, XR_428706.1:n.954T>C, XM_011539910.3:c.414T>C, XM_011539910.2:c.414T>C, XM_011539910.1:c.414T>C, NM_017615.3:c.891T>C, NM_017615.2:c.891T>C, NM_001167865.2:c.891T>C, NM_001167865.1:c.891T>C, XM_017016359.2:c.414T>C, XM_017016359.1:c.414T>C, XM_047425399.1:c.891T>C

Select item 14453513977.

rs1445351397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:121959552 (GRCh38)
10:123719067 (GRCh37)
Canonical SPDI:: NC_000010.11:121959551:G:A
Gene:: NSMCE4A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.121959552G>A, NC_000010.10:g.123719067G>A, XM_005269930.5:c.555C>T, XM_005269930.4:c.555C>T, XM_005269930.3:c.555C>T, XM_005269930.2:c.555C>T, XM_005269930.1:c.555C>T, XM_005269929.5:c.555C>T, XM_005269929.4:c.555C>T, XM_005269929.3:c.555C>T, XM_005269929.2:c.555C>T, XM_005269929.1:c.555C>T, XM_011539910.3:c.555C>T, XM_011539910.2:c.555C>T, XM_011539910.1:c.555C>T, NM_017615.3:c.1032C>T, NM_017615.2:c.1032C>T, NM_001167865.2:c.1032C>T, NM_001167865.1:c.1032C>T, XM_017016359.2:c.555C>T, XM_017016359.1:c.555C>T

Select item 14422377518.

rs1442237751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:121961501 (GRCh38)
10:123721016 (GRCh37)
Canonical SPDI:: NC_000010.11:121961500:G:A
Gene:: NSMCE4A (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.121961501G>A, NC_000010.10:g.123721016G>A, XM_005269930.5:c.384C>T, XM_005269930.4:c.384C>T, XM_005269930.3:c.384C>T, XM_005269930.2:c.384C>T, XM_005269930.1:c.384C>T, XM_005269929.5:c.384C>T, XM_005269929.4:c.384C>T, XM_005269929.3:c.384C>T, XM_005269929.2:c.384C>T, XM_005269929.1:c.384C>T, XR_428706.4:n.913C>T, XR_428706.3:n.924C>T, XR_428706.2:n.924C>T, XR_428706.1:n.924C>T, XM_011539910.3:c.384C>T, XM_011539910.2:c.384C>T, XM_011539910.1:c.384C>T, NM_017615.3:c.861C>T, NM_017615.2:c.861C>T, NM_001167865.2:c.861C>T, NM_001167865.1:c.861C>T, XM_017016359.2:c.384C>T, XM_017016359.1:c.384C>T, XM_047425399.1:c.861C>T

Select item 14403220299.

rs1440322029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:121961450 (GRCh38)
10:123720965 (GRCh37)
Canonical SPDI:: NC_000010.11:121961449:G:A
Gene:: NSMCE4A (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121961450G>A, NC_000010.10:g.123720965G>A, XM_005269930.5:c.435C>T, XM_005269930.4:c.435C>T, XM_005269930.3:c.435C>T, XM_005269930.2:c.435C>T, XM_005269930.1:c.435C>T, XM_005269929.5:c.435C>T, XM_005269929.4:c.435C>T, XM_005269929.3:c.435C>T, XM_005269929.2:c.435C>T, XM_005269929.1:c.435C>T, XR_428706.4:n.964C>T, XR_428706.3:n.975C>T, XR_428706.2:n.975C>T, XR_428706.1:n.975C>T, XM_011539910.3:c.435C>T, XM_011539910.2:c.435C>T, XM_011539910.1:c.435C>T, NM_017615.3:c.912C>T, NM_017615.2:c.912C>T, NM_001167865.2:c.912C>T, NM_001167865.1:c.912C>T, XM_017016359.2:c.435C>T, XM_017016359.1:c.435C>T, XM_047425399.1:c.912C>T

Select item 143831699210.

rs1438316992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:121965341 (GRCh38)
10:123724856 (GRCh37)
Canonical SPDI:: NC_000010.11:121965340:A:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121965341A>G, NC_000010.10:g.123724856A>G, XM_005269930.5:c.221T>C, XM_005269930.4:c.221T>C, XM_005269930.3:c.221T>C, XM_005269930.2:c.221T>C, XM_005269930.1:c.221T>C, XM_005269929.5:c.221T>C, XM_005269929.4:c.221T>C, XM_005269929.3:c.221T>C, XM_005269929.2:c.221T>C, XM_005269929.1:c.221T>C, XR_428706.4:n.750T>C, XR_428706.3:n.761T>C, XR_428706.2:n.761T>C, XR_428706.1:n.761T>C, XM_011539910.3:c.221T>C, XM_011539910.2:c.221T>C, XM_011539910.1:c.221T>C, NM_017615.3:c.698T>C, NM_017615.2:c.698T>C, NM_001167865.2:c.698T>C, NM_001167865.1:c.698T>C, XM_017016359.2:c.221T>C, XM_017016359.1:c.221T>C, XM_047425399.1:c.698T>C, XM_047425400.1:c.698T>C, NM_001411073.1:c.698T>C, XP_005269987.1:p.Val74Ala, XP_005269986.1:p.Val74Ala, XP_011538212.1:p.Val74Ala, NP_060085.2:p.Val233Ala, NP_001161337.1:p.Val233Ala, XP_016871848.1:p.Val74Ala, XP_047281355.1:p.Val233Ala, XP_047281356.1:p.Val233Ala

Select item 142475444911.

rs1424754449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:121970952 (GRCh38)
10:123730467 (GRCh37)
Canonical SPDI:: NC_000010.11:121970951:T:C
Gene:: NSMCE4A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.121970952T>C, NC_000010.10:g.123730467T>C, XM_005269930.5:c.11A>G, XM_005269930.4:c.11A>G, XM_005269930.3:c.11A>G, XM_005269930.2:c.11A>G, XM_005269930.1:c.11A>G, XM_005269929.5:c.11A>G, XM_005269929.4:c.11A>G, XM_005269929.3:c.11A>G, XM_005269929.2:c.11A>G, XM_005269929.1:c.11A>G, XR_428706.4:n.540A>G, XR_428706.3:n.551A>G, XR_428706.2:n.551A>G, XR_428706.1:n.551A>G, XM_011539910.3:c.11A>G, XM_011539910.2:c.11A>G, XM_011539910.1:c.11A>G, NM_017615.3:c.488A>G, NM_017615.2:c.488A>G, NM_001167865.2:c.488A>G, NM_001167865.1:c.488A>G, XM_017016359.2:c.11A>G, XM_017016359.1:c.11A>G, XM_047425399.1:c.488A>G, XM_047425400.1:c.488A>G, NM_001411073.1:c.488A>G, XP_005269987.1:p.Tyr4Cys, XP_005269986.1:p.Tyr4Cys, XP_011538212.1:p.Tyr4Cys, NP_060085.2:p.Tyr163Cys, NP_001161337.1:p.Tyr163Cys, XP_016871848.1:p.Tyr4Cys, XP_047281355.1:p.Tyr163Cys, XP_047281356.1:p.Tyr163Cys

Select item 142266204412.

rs1422662044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:121959339 (GRCh38)
10:123718854 (GRCh37)
Canonical SPDI:: NC_000010.11:121959338:A:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121959339A>G, NC_000010.10:g.123718854A>G, XM_005269930.5:c.678T>C, XM_005269930.4:c.678T>C, XM_005269930.3:c.678T>C, XM_005269930.2:c.678T>C, XM_005269930.1:c.678T>C, XM_005269929.5:c.678T>C, XM_005269929.4:c.678T>C, XM_005269929.3:c.678T>C, XM_005269929.2:c.678T>C, XM_005269929.1:c.678T>C, XR_428706.4:n.1112T>C, XR_428706.3:n.1123T>C, XR_428706.2:n.1123T>C, XR_428706.1:n.1123T>C, XM_011539910.3:c.678T>C, XM_011539910.2:c.678T>C, XM_011539910.1:c.678T>C, NM_017615.3:c.1155T>C, NM_017615.2:c.1155T>C, NM_001167865.2:c.1152T>C, NM_001167865.1:c.1152T>C, XM_017016359.2:c.678T>C, XM_017016359.1:c.678T>C

Select item 141797317413.

rs1417973174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:121959548 (GRCh38)
10:123719063 (GRCh37)
Canonical SPDI:: NC_000010.11:121959547:G:A,NC_000010.11:121959547:G:T
Gene:: NSMCE4A (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,stop_gained,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.121959548G>A, NC_000010.11:g.121959548G>T, NC_000010.10:g.123719063G>A, NC_000010.10:g.123719063G>T, XM_005269930.5:c.559C>T, XM_005269930.5:c.559C>A, XM_005269930.4:c.559C>T, XM_005269930.4:c.559C>A, XM_005269930.3:c.559C>T, XM_005269930.3:c.559C>A, XM_005269930.2:c.559C>T, XM_005269930.2:c.559C>A, XM_005269930.1:c.559C>T, XM_005269930.1:c.559C>A, XM_005269929.5:c.559C>T, XM_005269929.5:c.559C>A, XM_005269929.4:c.559C>T, XM_005269929.4:c.559C>A, XM_005269929.3:c.559C>T, XM_005269929.3:c.559C>A, XM_005269929.2:c.559C>T, XM_005269929.2:c.559C>A, XM_005269929.1:c.559C>T, XM_005269929.1:c.559C>A, XM_011539910.3:c.559C>T, XM_011539910.3:c.559C>A, XM_011539910.2:c.559C>T, XM_011539910.2:c.559C>A, XM_011539910.1:c.559C>T, XM_011539910.1:c.559C>A, NM_017615.3:c.1036C>T, NM_017615.3:c.1036C>A, NM_017615.2:c.1036C>T, NM_017615.2:c.1036C>A, NM_001167865.2:c.1036C>T, NM_001167865.2:c.1036C>A, NM_001167865.1:c.1036C>T, NM_001167865.1:c.1036C>A, XM_017016359.2:c.559C>T, XM_017016359.2:c.559C>A, XM_017016359.1:c.559C>T, XM_017016359.1:c.559C>A, XP_005269987.1:p.Gln187Ter, XP_005269987.1:p.Gln187Lys, XP_005269986.1:p.Gln187Ter, XP_005269986.1:p.Gln187Lys, XP_011538212.1:p.Gln187Ter, XP_011538212.1:p.Gln187Lys, NP_060085.2:p.Gln346Ter, NP_060085.2:p.Gln346Lys, NP_001161337.1:p.Gln346Ter, NP_001161337.1:p.Gln346Lys, XP_016871848.1:p.Gln187Ter, XP_016871848.1:p.Gln187Lys

Select item 141143571214.

rs1411435712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:121967702 (GRCh38)
10:123727217 (GRCh37)
Canonical SPDI:: NC_000010.11:121967701:G:A
Gene:: NSMCE4A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.121967702G>A, NC_000010.10:g.123727217G>A, XM_005269930.5:c.129C>T, XM_005269930.4:c.129C>T, XM_005269930.3:c.129C>T, XM_005269930.2:c.129C>T, XM_005269930.1:c.129C>T, XM_005269929.5:c.129C>T, XM_005269929.4:c.129C>T, XM_005269929.3:c.129C>T, XM_005269929.2:c.129C>T, XM_005269929.1:c.129C>T, XR_428706.4:n.658C>T, XR_428706.3:n.669C>T, XR_428706.2:n.669C>T, XR_428706.1:n.669C>T, XM_011539910.3:c.129C>T, XM_011539910.2:c.129C>T, XM_011539910.1:c.129C>T, NM_017615.3:c.606C>T, NM_017615.2:c.606C>T, NM_001167865.2:c.606C>T, NM_001167865.1:c.606C>T, XM_017016359.2:c.129C>T, XM_017016359.1:c.129C>T, XM_047425399.1:c.606C>T, XM_047425400.1:c.606C>T, NM_001411073.1:c.606C>T

Select item 140847377815.

rs1408473778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:121960368 (GRCh38)
10:123719883 (GRCh37)
Canonical SPDI:: NC_000010.11:121960367:C:A
Gene:: NSMCE4A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.121960368C>A, NC_000010.10:g.123719883C>A, XM_005269930.5:c.501G>T, XM_005269930.4:c.501G>T, XM_005269930.3:c.501G>T, XM_005269930.2:c.501G>T, XM_005269930.1:c.501G>T, XM_005269929.5:c.501G>T, XM_005269929.4:c.501G>T, XM_005269929.3:c.501G>T, XM_005269929.2:c.501G>T, XM_005269929.1:c.501G>T, XR_428706.4:n.1030G>T, XR_428706.3:n.1041G>T, XR_428706.2:n.1041G>T, XR_428706.1:n.1041G>T, XM_011539910.3:c.501G>T, XM_011539910.2:c.501G>T, XM_011539910.1:c.501G>T, NM_017615.3:c.978G>T, NM_017615.2:c.978G>T, NM_001167865.2:c.978G>T, NM_001167865.1:c.978G>T, XM_017016359.2:c.501G>T, XM_017016359.1:c.501G>T, XM_047425399.1:c.978G>T

Select item 140219393816.

rs1402193938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:121960360 (GRCh38)
10:123719876 (GRCh37)
Canonical SPDI:: NC_000010.11:121960360:TT:TTT
Gene:: NSMCE4A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.121960362dup, NC_000010.10:g.123719877dup, XM_005269930.5:c.508dup, XM_005269930.4:c.508dup, XM_005269930.3:c.508dup, XM_005269930.2:c.508dup, XM_005269930.1:c.508dup, XM_005269929.5:c.508dup, XM_005269929.4:c.508dup, XM_005269929.3:c.508dup, XM_005269929.2:c.508dup, XM_005269929.1:c.508dup, XR_428706.4:n.1037dup, XR_428706.3:n.1048dup, XR_428706.2:n.1048dup, XR_428706.1:n.1048dup, XM_011539910.3:c.508dup, XM_011539910.2:c.508dup, XM_011539910.1:c.508dup, NM_017615.3:c.985dup, NM_017615.2:c.985dup, NM_001167865.2:c.985dup, NM_001167865.1:c.985dup, XM_017016359.2:c.508dup, XM_017016359.1:c.508dup, XM_047425399.1:c.985dup, XP_005269987.1:p.Ile170fs, XP_005269986.1:p.Ile170fs, XP_011538212.1:p.Ile170fs, NP_060085.2:p.Ile329fs, NP_001161337.1:p.Ile329fs, XP_016871848.1:p.Ile170fs, XP_047281355.1:p.Ile329fs

Select item 139832382417.

rs1398323824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:121963280 (GRCh38)
10:123722795 (GRCh37)
Canonical SPDI:: NC_000010.11:121963279:C:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121963280C>G, NC_000010.10:g.123722795C>G, XM_005269930.5:c.325G>C, XM_005269930.4:c.325G>C, XM_005269930.3:c.325G>C, XM_005269930.2:c.325G>C, XM_005269930.1:c.325G>C, XM_005269929.5:c.325G>C, XM_005269929.4:c.325G>C, XM_005269929.3:c.325G>C, XM_005269929.2:c.325G>C, XM_005269929.1:c.325G>C, XR_428706.4:n.854G>C, XR_428706.3:n.865G>C, XR_428706.2:n.865G>C, XR_428706.1:n.865G>C, XM_011539910.3:c.325G>C, XM_011539910.2:c.325G>C, XM_011539910.1:c.325G>C, NM_017615.3:c.802G>C, NM_017615.2:c.802G>C, NM_001167865.2:c.802G>C, NM_001167865.1:c.802G>C, XM_017016359.2:c.325G>C, XM_017016359.1:c.325G>C, XM_047425399.1:c.802G>C, XM_047425400.1:c.802G>C, NM_001411073.1:c.802G>C, XP_005269987.1:p.Glu109Gln, XP_005269986.1:p.Glu109Gln, XP_011538212.1:p.Glu109Gln, NP_060085.2:p.Glu268Gln, NP_001161337.1:p.Glu268Gln, XP_016871848.1:p.Glu109Gln, XP_047281355.1:p.Glu268Gln, XP_047281356.1:p.Glu268Gln

Select item 139500572218.

rs1395005722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:121961465 (GRCh38)
10:123720980 (GRCh37)
Canonical SPDI:: NC_000010.11:121961464:G:T
Gene:: NSMCE4A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.121961465G>T, NC_000010.10:g.123720980G>T, XM_005269930.5:c.420C>A, XM_005269930.4:c.420C>A, XM_005269930.3:c.420C>A, XM_005269930.2:c.420C>A, XM_005269930.1:c.420C>A, XM_005269929.5:c.420C>A, XM_005269929.4:c.420C>A, XM_005269929.3:c.420C>A, XM_005269929.2:c.420C>A, XM_005269929.1:c.420C>A, XR_428706.4:n.949C>A, XR_428706.3:n.960C>A, XR_428706.2:n.960C>A, XR_428706.1:n.960C>A, XM_011539910.3:c.420C>A, XM_011539910.2:c.420C>A, XM_011539910.1:c.420C>A, NM_017615.3:c.897C>A, NM_017615.2:c.897C>A, NM_001167865.2:c.897C>A, NM_001167865.1:c.897C>A, XM_017016359.2:c.420C>A, XM_017016359.1:c.420C>A, XM_047425399.1:c.897C>A

Select item 138058180619.

rs1380581806 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:121965353 (GRCh38)
10:123724868 (GRCh37)
Canonical SPDI:: NC_000010.11:121965352:GG:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000010.11:g.121965354del, NC_000010.10:g.123724869del, XM_005269930.5:c.209del, XM_005269930.4:c.209del, XM_005269930.3:c.209del, XM_005269930.2:c.209del, XM_005269930.1:c.209del, XM_005269929.5:c.209del, XM_005269929.4:c.209del, XM_005269929.3:c.209del, XM_005269929.2:c.209del, XM_005269929.1:c.209del, XR_428706.4:n.738del, XR_428706.3:n.749del, XR_428706.2:n.749del, XR_428706.1:n.749del, XM_011539910.3:c.209del, XM_011539910.2:c.209del, XM_011539910.1:c.209del, NM_017615.3:c.686del, NM_017615.2:c.686del, NM_001167865.2:c.686del, NM_001167865.1:c.686del, XM_017016359.2:c.209del, XM_017016359.1:c.209del, XM_047425399.1:c.686del, XM_047425400.1:c.686del, NM_001411073.1:c.686del, XP_005269987.1:p.Pro70fs, XP_005269986.1:p.Pro70fs, XP_011538212.1:p.Pro70fs, NP_060085.2:p.Pro229fs, NP_001161337.1:p.Pro229fs, XP_016871848.1:p.Pro70fs, XP_047281355.1:p.Pro229fs, XP_047281356.1:p.Pro229fs

Select item 138005771420.

rs1380057714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:121959519 (GRCh38)
10:123719034 (GRCh37)
Canonical SPDI:: NC_000010.11:121959518:C:G
Gene:: NSMCE4A (Varview)
Functional Consequence:: missense_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.121959519C>G, NC_000010.10:g.123719034C>G, XM_005269930.5:c.588G>C, XM_005269930.4:c.588G>C, XM_005269930.3:c.588G>C, XM_005269930.2:c.588G>C, XM_005269930.1:c.588G>C, XM_005269929.5:c.588G>C, XM_005269929.4:c.588G>C, XM_005269929.3:c.588G>C, XM_005269929.2:c.588G>C, XM_005269929.1:c.588G>C, XM_011539910.3:c.588G>C, XM_011539910.2:c.588G>C, XM_011539910.1:c.588G>C, NM_017615.3:c.1065G>C, NM_017615.2:c.1065G>C, NM_001167865.2:c.1065G>C, NM_001167865.1:c.1065G>C, XM_017016359.2:c.588G>C, XM_017016359.1:c.588G>C, XP_005269987.1:p.Leu196Phe, XP_005269986.1:p.Leu196Phe, XP_011538212.1:p.Leu196Phe, NP_060085.2:p.Leu355Phe, NP_001161337.1:p.Leu355Phe, XP_016871848.1:p.Leu196Phe

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