SNP Links for Protein (Select 663071119) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 200

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Select item 14827633741.

rs1482763374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:18566480 (GRCh38)
11:18588027 (GRCh37)
Canonical SPDI:: NC_000011.10:18566479:A:C
Gene:: UEVLD (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18566480A>C, NC_000011.9:g.18588027A>C, NM_018314.6:c.360T>G, NM_018314.5:c.360T>G, NM_018314.4:c.360T>G, NM_001040697.4:c.360T>G, NM_001040697.3:c.360T>G, NM_001040697.2:c.360T>G, NM_001261382.3:c.294T>G, NM_001261382.2:c.294T>G, NM_001261382.1:c.294T>G, NM_001261385.3:c.246T>G, NM_001261385.2:c.246T>G, NM_001261385.1:c.246T>G, NM_001261383.3:c.294T>G, NM_001261383.2:c.294T>G, NM_001261383.1:c.294T>G, NM_001261384.3:c.-31T>G, NM_001261384.2:c.-31T>G, NM_001261384.1:c.-31T>G, NM_001297771.3:c.360T>G, NM_001297771.2:c.360T>G, NM_001297771.1:c.360T>G, NM_001040698.1:c.360T>G

Select item 14773761222.

rs1477376122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18570288 (GRCh38)
11:18591835 (GRCh37)
Canonical SPDI:: NC_000011.10:18570287:T:C
Gene:: UEVLD (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18570288T>C, NC_000011.9:g.18591835T>C, NM_018314.6:c.283A>G, NM_018314.5:c.283A>G, NM_018314.4:c.283A>G, NM_001040697.4:c.283A>G, NM_001040697.3:c.283A>G, NM_001040697.2:c.283A>G, NM_001261382.3:c.217A>G, NM_001261382.2:c.217A>G, NM_001261382.1:c.217A>G, NM_001261385.3:c.169A>G, NM_001261385.2:c.169A>G, NM_001261385.1:c.169A>G, NM_001261383.3:c.217A>G, NM_001261383.2:c.217A>G, NM_001261383.1:c.217A>G, NM_001297771.3:c.283A>G, NM_001297771.2:c.283A>G, NM_001297771.1:c.283A>G, NM_001040698.1:c.283A>G, NP_060784.3:p.Met95Val, NP_001035787.1:p.Met95Val, NP_001248311.1:p.Met73Val, NP_001248314.1:p.Met57Val, NP_001248312.1:p.Met73Val, NP_001284700.1:p.Met95Val

Select item 14733092833.

rs1473309283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:18563994 (GRCh38)
11:18585541 (GRCh37)
Canonical SPDI:: NC_000011.10:18563993:G:A
Gene:: UEVLD (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.18563994G>A, NC_000011.9:g.18585541G>A, NM_001297771.3:c.620C>T, NM_001297771.2:c.620C>T, NM_001297771.1:c.620C>T, NM_001040698.1:c.620C>T, NP_001284700.1:p.Ser207Phe

Select item 14710636744.

rs1471063674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:18588651 (GRCh38)
11:18610198 (GRCh37)
Canonical SPDI:: NC_000011.10:18588650:C:T
Gene:: UEVLD (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.18588651C>T, NC_000011.9:g.18610198C>T, NG_056446.1:g.150C>T, NM_018314.6:c.4G>A, NM_018314.5:c.4G>A, NM_018314.4:c.4G>A, NM_001040697.4:c.4G>A, NM_001040697.3:c.4G>A, NM_001040697.2:c.4G>A, NM_001261382.3:c.4G>A, NM_001261382.2:c.4G>A, NM_001261382.1:c.4G>A, NM_001261383.3:c.4G>A, NM_001261383.2:c.4G>A, NM_001261383.1:c.4G>A, NM_001261384.3:c.-138G>A, NM_001261384.2:c.-138G>A, NM_001261384.1:c.-138G>A, NM_001261386.3:c.4G>A, NM_001261386.2:c.4G>A, NM_001261386.1:c.4G>A, NM_001297771.3:c.4G>A, NM_001297771.2:c.4G>A, NM_001297771.1:c.4G>A, NM_001040698.1:c.4G>A, NP_060784.3:p.Glu2Lys, NP_001035787.1:p.Glu2Lys, NP_001248311.1:p.Glu2Lys, NP_001248312.1:p.Glu2Lys, NP_001248315.1:p.Glu2Lys, NP_001284700.1:p.Glu2Lys

Select item 14565603005.

rs1456560300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:18578728 (GRCh38)
11:18600275 (GRCh37)
Canonical SPDI:: NC_000011.10:18578727:G:A,NC_000011.10:18578727:G:C
Gene:: UEVLD (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.18578728G>A, NC_000011.10:g.18578728G>C, NC_000011.9:g.18600275G>A, NC_000011.9:g.18600275G>C, NM_018314.6:c.123C>T, NM_018314.6:c.123C>G, NM_018314.5:c.123C>T, NM_018314.5:c.123C>G, NM_018314.4:c.123C>T, NM_018314.4:c.123C>G, NM_001040697.4:c.123C>T, NM_001040697.4:c.123C>G, NM_001040697.3:c.123C>T, NM_001040697.3:c.123C>G, NM_001040697.2:c.123C>T, NM_001040697.2:c.123C>G, NM_001261382.3:c.123C>T, NM_001261382.3:c.123C>G, NM_001261382.2:c.123C>T, NM_001261382.2:c.123C>G, NM_001261382.1:c.123C>T, NM_001261382.1:c.123C>G, NM_001261385.3:c.9C>T, NM_001261385.3:c.9C>G, NM_001261385.2:c.9C>T, NM_001261385.2:c.9C>G, NM_001261385.1:c.9C>T, NM_001261385.1:c.9C>G, NM_001261383.3:c.123C>T, NM_001261383.3:c.123C>G, NM_001261383.2:c.123C>T, NM_001261383.2:c.123C>G, NM_001261383.1:c.123C>T, NM_001261383.1:c.123C>G, NM_001261386.3:c.123C>T, NM_001261386.3:c.123C>G, NM_001261386.2:c.123C>T, NM_001261386.2:c.123C>G, NM_001261386.1:c.123C>T, NM_001261386.1:c.123C>G, NM_001297771.3:c.123C>T, NM_001297771.3:c.123C>G, NM_001297771.2:c.123C>T, NM_001297771.2:c.123C>G, NM_001297771.1:c.123C>T, NM_001297771.1:c.123C>G, NM_001040698.1:c.123C>T, NM_001040698.1:c.123C>G

Select item 14552888846.

rs1455288884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18570369 (GRCh38)
11:18591916 (GRCh37)
Canonical SPDI:: NC_000011.10:18570368:A:G
Gene:: UEVLD (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18570369A>G, NC_000011.9:g.18591916A>G, NM_018314.6:c.202T>C, NM_018314.5:c.202T>C, NM_018314.4:c.202T>C, NM_001040697.4:c.202T>C, NM_001040697.3:c.202T>C, NM_001040697.2:c.202T>C, NM_001261382.3:c.136T>C, NM_001261382.2:c.136T>C, NM_001261382.1:c.136T>C, NM_001261385.3:c.88T>C, NM_001261385.2:c.88T>C, NM_001261385.1:c.88T>C, NM_001261383.3:c.136T>C, NM_001261383.2:c.136T>C, NM_001261383.1:c.136T>C, NM_001297771.3:c.202T>C, NM_001297771.2:c.202T>C, NM_001297771.1:c.202T>C, NM_001040698.1:c.202T>C, NP_060784.3:p.Tyr68His, NP_001035787.1:p.Tyr68His, NP_001248311.1:p.Tyr46His, NP_001248314.1:p.Tyr30His, NP_001248312.1:p.Tyr46His, NP_001284700.1:p.Tyr68His

Select item 14497215487.

rs1449721548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18570215 (GRCh38)
11:18591762 (GRCh37)
Canonical SPDI:: NC_000011.10:18570214:T:C
Gene:: UEVLD (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18570215T>C, NC_000011.9:g.18591762T>C, NM_018314.6:c.356A>G, NM_018314.5:c.356A>G, NM_018314.4:c.356A>G, NM_001040697.4:c.356A>G, NM_001040697.3:c.356A>G, NM_001040697.2:c.356A>G, NM_001261382.3:c.290A>G, NM_001261382.2:c.290A>G, NM_001261382.1:c.290A>G, NM_001261385.3:c.242A>G, NM_001261385.2:c.242A>G, NM_001261385.1:c.242A>G, NM_001261383.3:c.290A>G, NM_001261383.2:c.290A>G, NM_001261383.1:c.290A>G, NM_001297771.3:c.356A>G, NM_001297771.2:c.356A>G, NM_001297771.1:c.356A>G, NM_001040698.1:c.356A>G, NP_060784.3:p.His119Arg, NP_001035787.1:p.His119Arg, NP_001248311.1:p.His97Arg, NP_001248314.1:p.His81Arg, NP_001248312.1:p.His97Arg, NP_001284700.1:p.His119Arg

Select item 14489476378.

rs1448947637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18563985 (GRCh38)
11:18585532 (GRCh37)
Canonical SPDI:: NC_000011.10:18563984:A:G
Gene:: UEVLD (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.18563985A>G, NC_000011.9:g.18585532A>G, NM_001297771.3:c.629T>C, NM_001297771.2:c.629T>C, NM_001297771.1:c.629T>C, NM_001040698.1:c.629T>C, NP_001284700.1:p.Val210Ala

Select item 14456242189.

rs1445624218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18564963 (GRCh38)
11:18586510 (GRCh37)
Canonical SPDI:: NC_000011.10:18564962:T:C
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.18564963T>C, NC_000011.9:g.18586510T>C, NM_018314.6:c.541A>G, NM_018314.5:c.541A>G, NM_018314.4:c.541A>G, NM_001040697.4:c.541A>G, NM_001040697.3:c.541A>G, NM_001040697.2:c.541A>G, NM_001261382.3:c.475A>G, NM_001261382.2:c.475A>G, NM_001261382.1:c.475A>G, NM_001261385.3:c.427A>G, NM_001261385.2:c.427A>G, NM_001261385.1:c.427A>G, NM_001261383.3:c.475A>G, NM_001261383.2:c.475A>G, NM_001261383.1:c.475A>G, NM_001261384.3:c.151A>G, NM_001261384.2:c.151A>G, NM_001261384.1:c.151A>G, NM_001261386.3:c.241A>G, NM_001261386.2:c.241A>G, NM_001261386.1:c.241A>G, NM_001297771.3:c.541A>G, NM_001297771.2:c.541A>G, NM_001297771.1:c.541A>G, NM_001040698.1:c.541A>G, NP_060784.3:p.Thr181Ala, NP_001035787.1:p.Thr181Ala, NP_001248311.1:p.Thr159Ala, NP_001248314.1:p.Thr143Ala, NP_001248312.1:p.Thr159Ala, NP_001248313.1:p.Thr51Ala, NP_001248315.1:p.Thr81Ala, NP_001284700.1:p.Thr181Ala

Select item 143978783810.

rs1439787838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:18570255 (GRCh38)
11:18591802 (GRCh37)
Canonical SPDI:: NC_000011.10:18570254:G:A
Gene:: UEVLD (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.18570255G>A, NC_000011.9:g.18591802G>A, NM_018314.6:c.316C>T, NM_018314.5:c.316C>T, NM_018314.4:c.316C>T, NM_001040697.4:c.316C>T, NM_001040697.3:c.316C>T, NM_001040697.2:c.316C>T, NM_001261382.3:c.250C>T, NM_001261382.2:c.250C>T, NM_001261382.1:c.250C>T, NM_001261385.3:c.202C>T, NM_001261385.2:c.202C>T, NM_001261385.1:c.202C>T, NM_001261383.3:c.250C>T, NM_001261383.2:c.250C>T, NM_001261383.1:c.250C>T, NM_001297771.3:c.316C>T, NM_001297771.2:c.316C>T, NM_001297771.1:c.316C>T, NM_001040698.1:c.316C>T, NP_060784.3:p.Gln106Ter, NP_001035787.1:p.Gln106Ter, NP_001248311.1:p.Gln84Ter, NP_001248314.1:p.Gln68Ter, NP_001248312.1:p.Gln84Ter, NP_001284700.1:p.Gln106Ter

Select item 143899047711.

rs1438990477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:18570229 (GRCh38)
11:18591776 (GRCh37)
Canonical SPDI:: NC_000011.10:18570228:G:C
Gene:: UEVLD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.18570229G>C, NC_000011.9:g.18591776G>C, NM_018314.6:c.342C>G, NM_018314.5:c.342C>G, NM_018314.4:c.342C>G, NM_001040697.4:c.342C>G, NM_001040697.3:c.342C>G, NM_001040697.2:c.342C>G, NM_001261382.3:c.276C>G, NM_001261382.2:c.276C>G, NM_001261382.1:c.276C>G, NM_001261385.3:c.228C>G, NM_001261385.2:c.228C>G, NM_001261385.1:c.228C>G, NM_001261383.3:c.276C>G, NM_001261383.2:c.276C>G, NM_001261383.1:c.276C>G, NM_001297771.3:c.342C>G, NM_001297771.2:c.342C>G, NM_001297771.1:c.342C>G, NM_001040698.1:c.342C>G

Select item 139651122012.

rs1396511220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:18564898 (GRCh38)
11:18586445 (GRCh37)
Canonical SPDI:: NC_000011.10:18564897:T:A,NC_000011.10:18564897:T:C
Gene:: UEVLD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.18564898T>A, NC_000011.10:g.18564898T>C, NC_000011.9:g.18586445T>A, NC_000011.9:g.18586445T>C, NM_018314.6:c.606A>T, NM_018314.6:c.606A>G, NM_018314.5:c.606A>T, NM_018314.5:c.606A>G, NM_018314.4:c.606A>T, NM_018314.4:c.606A>G, NM_001040697.4:c.606A>T, NM_001040697.4:c.606A>G, NM_001040697.3:c.606A>T, NM_001040697.3:c.606A>G, NM_001040697.2:c.606A>T, NM_001040697.2:c.606A>G, NM_001261382.3:c.540A>T, NM_001261382.3:c.540A>G, NM_001261382.2:c.540A>T, NM_001261382.2:c.540A>G, NM_001261382.1:c.540A>T, NM_001261382.1:c.540A>G, NM_001261385.3:c.492A>T, NM_001261385.3:c.492A>G, NM_001261385.2:c.492A>T, NM_001261385.2:c.492A>G, NM_001261385.1:c.492A>T, NM_001261385.1:c.492A>G, NM_001261383.3:c.540A>T, NM_001261383.3:c.540A>G, NM_001261383.2:c.540A>T, NM_001261383.2:c.540A>G, NM_001261383.1:c.540A>T, NM_001261383.1:c.540A>G, NM_001261384.3:c.216A>T, NM_001261384.3:c.216A>G, NM_001261384.2:c.216A>T, NM_001261384.2:c.216A>G, NM_001261384.1:c.216A>T, NM_001261384.1:c.216A>G, NM_001261386.3:c.306A>T, NM_001261386.3:c.306A>G, NM_001261386.2:c.306A>T, NM_001261386.2:c.306A>G, NM_001261386.1:c.306A>T, NM_001261386.1:c.306A>G, NM_001297771.3:c.606A>T, NM_001297771.3:c.606A>G, NM_001297771.2:c.606A>T, NM_001297771.2:c.606A>G, NM_001297771.1:c.606A>T, NM_001297771.1:c.606A>G, NM_001040698.1:c.606A>T, NM_001040698.1:c.606A>G

Select item 139524625113.

rs1395246251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18578750 (GRCh38)
11:18600297 (GRCh37)
Canonical SPDI:: NC_000011.10:18578749:T:C
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.18578750T>C, NC_000011.9:g.18600297T>C, NM_018314.6:c.101A>G, NM_018314.5:c.101A>G, NM_018314.4:c.101A>G, NM_001040697.4:c.101A>G, NM_001040697.3:c.101A>G, NM_001040697.2:c.101A>G, NM_001261382.3:c.101A>G, NM_001261382.2:c.101A>G, NM_001261382.1:c.101A>G, NM_001261385.3:c.-14A>G, NM_001261385.2:c.-14A>G, NM_001261385.1:c.-14A>G, NM_001261383.3:c.101A>G, NM_001261383.2:c.101A>G, NM_001261383.1:c.101A>G, NM_001261386.3:c.101A>G, NM_001261386.2:c.101A>G, NM_001261386.1:c.101A>G, NM_001297771.3:c.101A>G, NM_001297771.2:c.101A>G, NM_001297771.1:c.101A>G, NM_001040698.1:c.101A>G, NP_060784.3:p.His34Arg, NP_001035787.1:p.His34Arg, NP_001248311.1:p.His34Arg, NP_001248312.1:p.His34Arg, NP_001248315.1:p.His34Arg, NP_001284700.1:p.His34Arg

Select item 139485118414.

rs1394851184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:18570240 (GRCh38)
11:18591787 (GRCh37)
Canonical SPDI:: NC_000011.10:18570239:A:C
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.18570240A>C, NC_000011.9:g.18591787A>C, NM_018314.6:c.331T>G, NM_018314.5:c.331T>G, NM_018314.4:c.331T>G, NM_001040697.4:c.331T>G, NM_001040697.3:c.331T>G, NM_001040697.2:c.331T>G, NM_001261382.3:c.265T>G, NM_001261382.2:c.265T>G, NM_001261382.1:c.265T>G, NM_001261385.3:c.217T>G, NM_001261385.2:c.217T>G, NM_001261385.1:c.217T>G, NM_001261383.3:c.265T>G, NM_001261383.2:c.265T>G, NM_001261383.1:c.265T>G, NM_001297771.3:c.331T>G, NM_001297771.2:c.331T>G, NM_001297771.1:c.331T>G, NM_001040698.1:c.331T>G, NP_060784.3:p.Leu111Val, NP_001035787.1:p.Leu111Val, NP_001248311.1:p.Leu89Val, NP_001248314.1:p.Leu73Val, NP_001248312.1:p.Leu89Val, NP_001284700.1:p.Leu111Val

Select item 139268697215.

rs1392686972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:18570222 (GRCh38)
11:18591769 (GRCh37)
Canonical SPDI:: NC_000011.10:18570221:A:G
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18570222A>G, NC_000011.9:g.18591769A>G, NM_018314.6:c.349T>C, NM_018314.5:c.349T>C, NM_018314.4:c.349T>C, NM_001040697.4:c.349T>C, NM_001040697.3:c.349T>C, NM_001040697.2:c.349T>C, NM_001261382.3:c.283T>C, NM_001261382.2:c.283T>C, NM_001261382.1:c.283T>C, NM_001261385.3:c.235T>C, NM_001261385.2:c.235T>C, NM_001261385.1:c.235T>C, NM_001261383.3:c.283T>C, NM_001261383.2:c.283T>C, NM_001261383.1:c.283T>C, NM_001297771.3:c.349T>C, NM_001297771.2:c.349T>C, NM_001297771.1:c.349T>C, NM_001040698.1:c.349T>C, NP_060784.3:p.Trp117Arg, NP_001035787.1:p.Trp117Arg, NP_001248311.1:p.Trp95Arg, NP_001248314.1:p.Trp79Arg, NP_001248312.1:p.Trp95Arg, NP_001284700.1:p.Trp117Arg

Select item 139095168816.

rs1390951688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:18564996 (GRCh38)
11:18586543 (GRCh37)
Canonical SPDI:: NC_000011.10:18564995:T:G
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18564996T>G, NC_000011.9:g.18586543T>G, NM_018314.6:c.508A>C, NM_018314.5:c.508A>C, NM_018314.4:c.508A>C, NM_001040697.4:c.508A>C, NM_001040697.3:c.508A>C, NM_001040697.2:c.508A>C, NM_001261382.3:c.442A>C, NM_001261382.2:c.442A>C, NM_001261382.1:c.442A>C, NM_001261385.3:c.394A>C, NM_001261385.2:c.394A>C, NM_001261385.1:c.394A>C, NM_001261383.3:c.442A>C, NM_001261383.2:c.442A>C, NM_001261383.1:c.442A>C, NM_001261384.3:c.118A>C, NM_001261384.2:c.118A>C, NM_001261384.1:c.118A>C, NM_001261386.3:c.208A>C, NM_001261386.2:c.208A>C, NM_001261386.1:c.208A>C, NM_001297771.3:c.508A>C, NM_001297771.2:c.508A>C, NM_001297771.1:c.508A>C, NM_001040698.1:c.508A>C, NP_060784.3:p.Asn170His, NP_001035787.1:p.Asn170His, NP_001248311.1:p.Asn148His, NP_001248314.1:p.Asn132His, NP_001248312.1:p.Asn148His, NP_001248313.1:p.Asn40His, NP_001248315.1:p.Asn70His, NP_001284700.1:p.Asn170His

Select item 138832869217.

rs1388328692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:18570304 (GRCh38)
11:18591851 (GRCh37)
Canonical SPDI:: NC_000011.10:18570303:C:G,NC_000011.10:18570303:C:T
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000123/6 (ALFA)
T=0.000022/5 (GnomAD_exomes)
T=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.18570304C>G, NC_000011.10:g.18570304C>T, NC_000011.9:g.18591851C>G, NC_000011.9:g.18591851C>T, NM_018314.6:c.267G>C, NM_018314.6:c.267G>A, NM_018314.5:c.267G>C, NM_018314.5:c.267G>A, NM_018314.4:c.267G>C, NM_018314.4:c.267G>A, NM_001040697.4:c.267G>C, NM_001040697.4:c.267G>A, NM_001040697.3:c.267G>C, NM_001040697.3:c.267G>A, NM_001040697.2:c.267G>C, NM_001040697.2:c.267G>A, NM_001261382.3:c.201G>C, NM_001261382.3:c.201G>A, NM_001261382.2:c.201G>C, NM_001261382.2:c.201G>A, NM_001261382.1:c.201G>C, NM_001261382.1:c.201G>A, NM_001261385.3:c.153G>C, NM_001261385.3:c.153G>A, NM_001261385.2:c.153G>C, NM_001261385.2:c.153G>A, NM_001261385.1:c.153G>C, NM_001261385.1:c.153G>A, NM_001261383.3:c.201G>C, NM_001261383.3:c.201G>A, NM_001261383.2:c.201G>C, NM_001261383.2:c.201G>A, NM_001261383.1:c.201G>C, NM_001261383.1:c.201G>A, NM_001297771.3:c.267G>C, NM_001297771.3:c.267G>A, NM_001297771.2:c.267G>C, NM_001297771.2:c.267G>A, NM_001297771.1:c.267G>C, NM_001297771.1:c.267G>A, NM_001040698.1:c.267G>C, NM_001040698.1:c.267G>A, NP_060784.3:p.Leu89Phe, NP_001035787.1:p.Leu89Phe, NP_001248311.1:p.Leu67Phe, NP_001248314.1:p.Leu51Phe, NP_001248312.1:p.Leu67Phe, NP_001284700.1:p.Leu89Phe

Select item 138794167018.

rs1387941670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:18566359 (GRCh38)
11:18587906 (GRCh37)
Canonical SPDI:: NC_000011.10:18566358:T:C
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.18566359T>C, NC_000011.9:g.18587906T>C, NM_018314.6:c.481A>G, NM_018314.5:c.481A>G, NM_018314.4:c.481A>G, NM_001040697.4:c.481A>G, NM_001040697.3:c.481A>G, NM_001040697.2:c.481A>G, NM_001261382.3:c.415A>G, NM_001261382.2:c.415A>G, NM_001261382.1:c.415A>G, NM_001261385.3:c.367A>G, NM_001261385.2:c.367A>G, NM_001261385.1:c.367A>G, NM_001261383.3:c.415A>G, NM_001261383.2:c.415A>G, NM_001261383.1:c.415A>G, NM_001261384.3:c.91A>G, NM_001261384.2:c.91A>G, NM_001261384.1:c.91A>G, NM_001297771.3:c.481A>G, NM_001297771.2:c.481A>G, NM_001297771.1:c.481A>G, NM_001040698.1:c.481A>G, NP_060784.3:p.Lys161Glu, NP_001035787.1:p.Lys161Glu, NP_001248311.1:p.Lys139Glu, NP_001248314.1:p.Lys123Glu, NP_001248312.1:p.Lys139Glu, NP_001248313.1:p.Lys31Glu, NP_001284700.1:p.Lys161Glu

Select item 138452507419.

rs1384525074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:18578745 (GRCh38)
11:18600292 (GRCh37)
Canonical SPDI:: NC_000011.10:18578744:T:G
Gene:: UEVLD (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.18578745T>G, NC_000011.9:g.18600292T>G, NM_018314.6:c.106A>C, NM_018314.5:c.106A>C, NM_018314.4:c.106A>C, NM_001040697.4:c.106A>C, NM_001040697.3:c.106A>C, NM_001040697.2:c.106A>C, NM_001261382.3:c.106A>C, NM_001261382.2:c.106A>C, NM_001261382.1:c.106A>C, NM_001261385.3:c.-9A>C, NM_001261385.2:c.-9A>C, NM_001261385.1:c.-9A>C, NM_001261383.3:c.106A>C, NM_001261383.2:c.106A>C, NM_001261383.1:c.106A>C, NM_001261386.3:c.106A>C, NM_001261386.2:c.106A>C, NM_001261386.1:c.106A>C, NM_001297771.3:c.106A>C, NM_001297771.2:c.106A>C, NM_001297771.1:c.106A>C, NM_001040698.1:c.106A>C, NP_060784.3:p.Lys36Gln, NP_001035787.1:p.Lys36Gln, NP_001248311.1:p.Lys36Gln, NP_001248312.1:p.Lys36Gln, NP_001248315.1:p.Lys36Gln, NP_001284700.1:p.Lys36Gln

Select item 138046214420.

rs1380462144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:18564980 (GRCh38)
11:18586527 (GRCh37)
Canonical SPDI:: NC_000011.10:18564979:G:T
Gene:: UEVLD (Varview)
Functional Consequence:: missense_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_000011.10:g.18564980G>T, NC_000011.9:g.18586527G>T, NM_018314.6:c.524C>A, NM_018314.5:c.524C>A, NM_018314.4:c.524C>A, NM_001040697.4:c.524C>A, NM_001040697.3:c.524C>A, NM_001040697.2:c.524C>A, NM_001261382.3:c.458C>A, NM_001261382.2:c.458C>A, NM_001261382.1:c.458C>A, NM_001261385.3:c.410C>A, NM_001261385.2:c.410C>A, NM_001261385.1:c.410C>A, NM_001261383.3:c.458C>A, NM_001261383.2:c.458C>A, NM_001261383.1:c.458C>A, NM_001261384.3:c.134C>A, NM_001261384.2:c.134C>A, NM_001261384.1:c.134C>A, NM_001261386.3:c.224C>A, NM_001261386.2:c.224C>A, NM_001261386.1:c.224C>A, NM_001297771.3:c.524C>A, NM_001297771.2:c.524C>A, NM_001297771.1:c.524C>A, NM_001040698.1:c.524C>A, NP_060784.3:p.Ala175Glu, NP_001035787.1:p.Ala175Glu, NP_001248311.1:p.Ala153Glu, NP_001248314.1:p.Ala137Glu, NP_001248312.1:p.Ala153Glu, NP_001248313.1:p.Ala45Glu, NP_001248315.1:p.Ala75Glu, NP_001284700.1:p.Ala175Glu

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