SNP Links for Protein (Select 153251889) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:129111738 (GRCh38)
4:130032893 (GRCh37)
Canonical SPDI:: NC_000004.12:129111737:G:A
Gene:: C4orf33 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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)
HGVS:: NC_000004.12:g.129111738G>A, NC_000004.11:g.130032893G>A, NM_173487.3:c.547G>A, NM_173487.2:c.547G>A, NM_001099783.2:c.547G>A, NM_001099783.1:c.547G>A, NP_775758.2:p.Glu183Lys, NP_001093253.1:p.Glu183Lys

Select item 143438210410.

rs1434382104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:129102731 (GRCh38)
4:130023886 (GRCh37)
Canonical SPDI:: NC_000004.12:129102730:G:A
Gene:: C4orf33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.129102731G>A, NC_000004.11:g.130023886G>A, NM_173487.3:c.121G>A, NM_173487.2:c.121G>A, NM_001099783.2:c.121G>A, NM_001099783.1:c.121G>A, XM_017007724.2:c.121G>A, XM_017007724.1:c.121G>A, XM_047449598.1:c.121G>A, XM_047449599.1:c.121G>A, NP_775758.2:p.Asp41Asn, NP_001093253.1:p.Asp41Asn, XP_016863213.1:p.Asp41Asn, XP_047305554.1:p.Asp41Asn, XP_047305555.1:p.Asp41Asn

Select item 143065719811.

rs1430657198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:129111759 (GRCh38)
4:130032914 (GRCh37)
Canonical SPDI:: NC_000004.12:129111758:G:T
Gene:: C4orf33 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000004.12:g.129111759G>T, NC_000004.11:g.130032914G>T, NM_173487.3:c.568G>T, NM_173487.2:c.568G>T, NM_001099783.2:c.568G>T, NM_001099783.1:c.568G>T, NP_775758.2:p.Asp190Tyr, NP_001093253.1:p.Asp190Tyr

Select item 143012942012.

rs1430129420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:129109533 (GRCh38)
4:130030688 (GRCh37)
Canonical SPDI:: NC_000004.12:129109532:T:G
Gene:: C4orf33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.129109533T>G, NC_000004.11:g.130030688T>G, NM_173487.3:c.355T>G, NM_173487.2:c.355T>G, NM_001099783.2:c.355T>G, NM_001099783.1:c.355T>G, XM_017007724.2:c.355T>G, XM_017007724.1:c.355T>G, XM_047449598.1:c.355T>G, XM_047449599.1:c.355T>G, NP_775758.2:p.Tyr119Asp, NP_001093253.1:p.Tyr119Asp, XP_016863213.1:p.Tyr119Asp, XP_047305554.1:p.Tyr119Asp, XP_047305555.1:p.Tyr119Asp

Select item 142133047913.

rs1421330479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:129109475 (GRCh38)
4:130030630 (GRCh37)
Canonical SPDI:: NC_000004.12:129109474:A:G
Gene:: C4orf33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.129109475A>G, NC_000004.11:g.130030630A>G, NM_173487.3:c.297A>G, NM_173487.2:c.297A>G, NM_001099783.2:c.297A>G, NM_001099783.1:c.297A>G, XM_017007724.2:c.297A>G, XM_017007724.1:c.297A>G, XM_047449598.1:c.297A>G, XM_047449599.1:c.297A>G

Select item 140817211914.

rs1408172119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:129109322 (GRCh38)
4:130030477 (GRCh37)
Canonical SPDI:: NC_000004.12:129109321:A:G
Gene:: C4orf33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.129109322A>G, NC_000004.11:g.130030477A>G, NM_173487.3:c.258A>G, NM_173487.2:c.258A>G, NM_001099783.2:c.258A>G, NM_001099783.1:c.258A>G, XM_017007724.2:c.258A>G, XM_017007724.1:c.258A>G, XM_047449598.1:c.258A>G, XM_047449599.1:c.258A>G

Select item 140671321515.

rs1406713215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:129111706 (GRCh38)
4:130032861 (GRCh37)
Canonical SPDI:: NC_000004.12:129111705:A:G,NC_000004.12:129111705:A:T
Gene:: C4orf33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.129111706A>G, NC_000004.12:g.129111706A>T, NC_000004.11:g.130032861A>G, NC_000004.11:g.130032861A>T, NM_173487.3:c.515A>G, NM_173487.3:c.515A>T, NM_173487.2:c.515A>G, NM_173487.2:c.515A>T, NM_001099783.2:c.515A>G, NM_001099783.2:c.515A>T, NM_001099783.1:c.515A>G, NM_001099783.1:c.515A>T, NP_775758.2:p.Lys172Arg, NP_775758.2:p.Lys172Met, NP_001093253.1:p.Lys172Arg, NP_001093253.1:p.Lys172Met

Select item 140450160816.

rs1404501608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:129102743 (GRCh38)
4:130023898 (GRCh37)
Canonical SPDI:: NC_000004.12:129102742:C:T
Gene:: C4orf33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.129102743C>T, NC_000004.11:g.130023898C>T, NM_173487.3:c.133C>T, NM_173487.2:c.133C>T, NM_001099783.2:c.133C>T, NM_001099783.1:c.133C>T, XM_017007724.2:c.133C>T, XM_017007724.1:c.133C>T, XM_047449598.1:c.133C>T, XM_047449599.1:c.133C>T, NP_775758.2:p.Pro45Ser, NP_001093253.1:p.Pro45Ser, XP_016863213.1:p.Pro45Ser, XP_047305554.1:p.Pro45Ser, XP_047305555.1:p.Pro45Ser

Select item 140068495017.

rs1400684950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:129106618 (GRCh38)
4:130027773 (GRCh37)
Canonical SPDI:: NC_000004.12:129106617:T:C
Gene:: C4orf33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.129106618T>C, NC_000004.11:g.130027773T>C, NM_173487.3:c.213T>C, NM_173487.2:c.213T>C, NM_001099783.2:c.213T>C, NM_001099783.1:c.213T>C, XM_017007724.2:c.213T>C, XM_017007724.1:c.213T>C, XM_047449598.1:c.213T>C, XM_047449599.1:c.213T>C

Select item 139147934418.

rs1391479344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:129109329 (GRCh38)
4:130030484 (GRCh37)
Canonical SPDI:: NC_000004.12:129109328:T:A
Gene:: C4orf33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.129109329T>A, NC_000004.11:g.130030484T>A, NM_173487.3:c.265T>A, NM_173487.2:c.265T>A, NM_001099783.2:c.265T>A, NM_001099783.1:c.265T>A, XM_017007724.2:c.265T>A, XM_017007724.1:c.265T>A, XM_047449598.1:c.265T>A, XM_047449599.1:c.265T>A, NP_775758.2:p.Leu89Ile, NP_001093253.1:p.Leu89Ile, XP_016863213.1:p.Leu89Ile, XP_047305554.1:p.Leu89Ile, XP_047305555.1:p.Leu89Ile

Select item 138477649319.

rs1384776493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:129109632 (GRCh38)
4:130030787 (GRCh37)
Canonical SPDI:: NC_000004.12:129109631:G:A
Gene:: C4orf33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.129109632G>A, NC_000004.11:g.130030787G>A, NM_173487.3:c.454G>A, NM_173487.2:c.454G>A, NM_001099783.2:c.454G>A, NM_001099783.1:c.454G>A, XM_017007724.2:c.454G>A, XM_017007724.1:c.454G>A, XM_047449598.1:c.454G>A, XM_047449599.1:c.454G>A, NP_775758.2:p.Val152Ile, NP_001093253.1:p.Val152Ile, XP_016863213.1:p.Val152Ile, XP_047305554.1:p.Val152Ile, XP_047305555.1:p.Val152Ile

Select item 138437322920.

rs1384373229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:129109579 (GRCh38)
4:130030734 (GRCh37)
Canonical SPDI:: NC_000004.12:129109578:C:T
Gene:: C4orf33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.129109579C>T, NC_000004.11:g.130030734C>T, NM_173487.3:c.401C>T, NM_173487.2:c.401C>T, NM_001099783.2:c.401C>T, NM_001099783.1:c.401C>T, XM_017007724.2:c.401C>T, XM_017007724.1:c.401C>T, XM_047449598.1:c.401C>T, XM_047449599.1:c.401C>T, NP_775758.2:p.Ser134Leu, NP_001093253.1:p.Ser134Leu, XP_016863213.1:p.Ser134Leu, XP_047305554.1:p.Ser134Leu, XP_047305555.1:p.Ser134Leu

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