SNP Links for Protein (Select 664806041) - SNP

Links from Protein

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Select item 14837730691.

rs1483773069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65396817 (GRCh38)
11:65164288 (GRCh37)
Canonical SPDI:: NC_000011.10:65396816:C:T
Gene:: FRMD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65396817C>T, NC_000011.9:g.65164288C>T, NM_031904.5:c.600C>T, NM_031904.4:c.600C>T, NM_031904.3:c.600C>T, NM_001300833.3:c.498C>T, NM_001300833.2:c.498C>T, NM_001300833.1:c.498C>T, NM_001300832.3:c.432C>T, NM_001300832.2:c.432C>T, NM_001300832.1:c.432C>T, XR_007062512.1:n.821C>T, XR_007062511.1:n.821C>T, XR_007062510.1:n.821C>T, XM_047427684.1:c.639C>T, XM_047427683.1:c.654C>T

Select item 14819575332.

rs1481957533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65400797 (GRCh38)
11:65168268 (GRCh37)
Canonical SPDI:: NC_000011.10:65400796:T:C
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65400797T>C, NC_000011.9:g.65168268T>C, NM_031904.5:c.1001T>C, NM_031904.4:c.1001T>C, NM_031904.3:c.1001T>C, NM_001300833.3:c.899T>C, NM_001300833.2:c.899T>C, NM_001300833.1:c.899T>C, NM_001300832.3:c.833T>C, NM_001300832.2:c.833T>C, NM_001300832.1:c.833T>C, XR_007062512.1:n.1222T>C, XR_007062511.1:n.1222T>C, XR_007062510.1:n.1222T>C, XM_047427684.1:c.1040T>C, XM_047427683.1:c.1055T>C, NP_114110.1:p.Leu334Ser, NP_001287762.1:p.Leu300Ser, NP_001287761.1:p.Leu278Ser, XP_047283640.1:p.Leu347Ser, XP_047283639.1:p.Leu352Ser

Select item 14819472573.

rs1481947257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65396847 (GRCh38)
11:65164318 (GRCh37)
Canonical SPDI:: NC_000011.10:65396846:G:A
Gene:: FRMD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65396847G>A, NC_000011.9:g.65164318G>A, NM_031904.5:c.630G>A, NM_031904.4:c.630G>A, NM_031904.3:c.630G>A, NM_001300833.3:c.528G>A, NM_001300833.2:c.528G>A, NM_001300833.1:c.528G>A, NM_001300832.3:c.462G>A, NM_001300832.2:c.462G>A, NM_001300832.1:c.462G>A, XR_007062512.1:n.851G>A, XR_007062511.1:n.851G>A, XR_007062510.1:n.851G>A, XM_047427684.1:c.669G>A, XM_047427683.1:c.684G>A

Select item 14813155384.

rs1481315538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65394410 (GRCh38)
11:65161881 (GRCh37)
Canonical SPDI:: NC_000011.10:65394409:C:T
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65394410C>T, NC_000011.9:g.65161881C>T, NM_031904.5:c.566C>T, NM_031904.4:c.566C>T, NM_031904.3:c.566C>T, NM_001300833.3:c.464C>T, NM_001300833.2:c.464C>T, NM_001300833.1:c.464C>T, NM_001300832.3:c.398C>T, NM_001300832.2:c.398C>T, NM_001300832.1:c.398C>T, XR_007062512.1:n.787C>T, XR_007062511.1:n.787C>T, XR_007062510.1:n.787C>T, XM_047427684.1:c.605C>T, XM_047427683.1:c.620C>T, NP_114110.1:p.Ala189Val, NP_001287762.1:p.Ala155Val, NP_001287761.1:p.Ala133Val, XP_047283640.1:p.Ala202Val, XP_047283639.1:p.Ala207Val

Select item 14789560595.

rs1478956059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65405031 (GRCh38)
11:65172502 (GRCh37)
Canonical SPDI:: NC_000011.10:65405030:G:A
Gene:: FRMD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65405031G>A, NC_000011.9:g.65172502G>A, NM_031904.5:c.1239G>A, NM_031904.4:c.1239G>A, NM_031904.3:c.1239G>A, NM_001300833.3:c.1137G>A, NM_001300833.2:c.1137G>A, NM_001300833.1:c.1137G>A, NM_001300832.3:c.1071G>A, NM_001300832.2:c.1071G>A, NM_001300832.1:c.1071G>A, XR_007062512.1:n.1460G>A, XR_007062511.1:n.1460G>A, XR_007062510.1:n.1460G>A, XM_047427684.1:c.1278G>A, XM_047427683.1:c.1293G>A

Select item 14784113256.

rs1478411325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:65393626 (GRCh38)
11:65161097 (GRCh37)
Canonical SPDI:: NC_000011.10:65393625:G:A,NC_000011.10:65393625:G:C
Gene:: FRMD8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65393626G>A, NC_000011.10:g.65393626G>C, NC_000011.9:g.65161097G>A, NC_000011.9:g.65161097G>C, NM_031904.5:c.307G>A, NM_031904.5:c.307G>C, NM_031904.4:c.307G>A, NM_031904.4:c.307G>C, NM_031904.3:c.307G>A, NM_031904.3:c.307G>C, NM_001300832.3:c.139G>A, NM_001300832.3:c.139G>C, NM_001300832.2:c.139G>A, NM_001300832.2:c.139G>C, NM_001300832.1:c.139G>A, NM_001300832.1:c.139G>C, XR_007062512.1:n.528G>A, XR_007062512.1:n.528G>C, XR_007062511.1:n.528G>A, XR_007062511.1:n.528G>C, XR_007062510.1:n.528G>A, XR_007062510.1:n.528G>C, XM_047427684.1:c.346G>A, XM_047427684.1:c.346G>C, NP_114110.1:p.Glu103Lys, NP_114110.1:p.Glu103Gln, NP_001287761.1:p.Glu47Lys, NP_001287761.1:p.Glu47Gln, XP_047283640.1:p.Glu116Lys, XP_047283640.1:p.Glu116Gln

Select item 14747383487.

rs1474738348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65396994 (GRCh38)
11:65164465 (GRCh37)
Canonical SPDI:: NC_000011.10:65396993:C:T
Gene:: FRMD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65396994C>T, NC_000011.9:g.65164465C>T, NM_031904.5:c.777C>T, NM_031904.4:c.777C>T, NM_031904.3:c.777C>T, NM_001300833.3:c.675C>T, NM_001300833.2:c.675C>T, NM_001300833.1:c.675C>T, NM_001300832.3:c.609C>T, NM_001300832.2:c.609C>T, NM_001300832.1:c.609C>T, XR_007062512.1:n.998C>T, XR_007062511.1:n.998C>T, XR_007062510.1:n.998C>T, XM_047427684.1:c.816C>T, XM_047427683.1:c.831C>T

Select item 14746253198.

rs1474625319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65394263 (GRCh38)
11:65161734 (GRCh37)
Canonical SPDI:: NC_000011.10:65394262:A:G
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65394263A>G, NC_000011.9:g.65161734A>G, NM_031904.5:c.419A>G, NM_031904.4:c.419A>G, NM_031904.3:c.419A>G, NM_001300833.3:c.317A>G, NM_001300833.2:c.317A>G, NM_001300833.1:c.317A>G, NM_001300832.3:c.251A>G, NM_001300832.2:c.251A>G, NM_001300832.1:c.251A>G, XR_007062512.1:n.640A>G, XR_007062511.1:n.640A>G, XR_007062510.1:n.640A>G, XM_047427684.1:c.458A>G, XM_047427683.1:c.473A>G, NP_114110.1:p.His140Arg, NP_001287762.1:p.His106Arg, NP_001287761.1:p.His84Arg, XP_047283640.1:p.His153Arg, XP_047283639.1:p.His158Arg

Select item 14740874299.

rs1474087429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65394320 (GRCh38)
11:65161791 (GRCh37)
Canonical SPDI:: NC_000011.10:65394319:C:T
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65394320C>T, NC_000011.9:g.65161791C>T, NM_031904.5:c.476C>T, NM_031904.4:c.476C>T, NM_031904.3:c.476C>T, NM_001300833.3:c.374C>T, NM_001300833.2:c.374C>T, NM_001300833.1:c.374C>T, NM_001300832.3:c.308C>T, NM_001300832.2:c.308C>T, NM_001300832.1:c.308C>T, XR_007062512.1:n.697C>T, XR_007062511.1:n.697C>T, XR_007062510.1:n.697C>T, XM_047427684.1:c.515C>T, XM_047427683.1:c.530C>T, NP_114110.1:p.Ala159Val, NP_001287762.1:p.Ala125Val, NP_001287761.1:p.Ala103Val, XP_047283640.1:p.Ala172Val, XP_047283639.1:p.Ala177Val

Select item 147047523810.

rs1470475238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65396858 (GRCh38)
11:65164329 (GRCh37)
Canonical SPDI:: NC_000011.10:65396857:C:T
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65396858C>T, NC_000011.9:g.65164329C>T, NM_031904.5:c.641C>T, NM_031904.4:c.641C>T, NM_031904.3:c.641C>T, NM_001300833.3:c.539C>T, NM_001300833.2:c.539C>T, NM_001300833.1:c.539C>T, NM_001300832.3:c.473C>T, NM_001300832.2:c.473C>T, NM_001300832.1:c.473C>T, XR_007062512.1:n.862C>T, XR_007062511.1:n.862C>T, XR_007062510.1:n.862C>T, XM_047427684.1:c.680C>T, XM_047427683.1:c.695C>T, NP_114110.1:p.Ala214Val, NP_001287762.1:p.Ala180Val, NP_001287761.1:p.Ala158Val, XP_047283640.1:p.Ala227Val, XP_047283639.1:p.Ala232Val

Select item 146843514711.

rs1468435147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:65399746 (GRCh38)
11:65167217 (GRCh37)
Canonical SPDI:: NC_000011.10:65399745:T:G
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65399746T>G, NC_000011.9:g.65167217T>G, NM_031904.5:c.814T>G, NM_031904.4:c.814T>G, NM_031904.3:c.814T>G, NM_001300833.3:c.712T>G, NM_001300833.2:c.712T>G, NM_001300833.1:c.712T>G, NM_001300832.3:c.646T>G, NM_001300832.2:c.646T>G, NM_001300832.1:c.646T>G, XR_007062512.1:n.1035T>G, XR_007062511.1:n.1035T>G, XR_007062510.1:n.1035T>G, XM_047427684.1:c.853T>G, XM_047427683.1:c.868T>G, NP_114110.1:p.Phe272Val, NP_001287762.1:p.Phe238Val, NP_001287761.1:p.Phe216Val, XP_047283640.1:p.Phe285Val, XP_047283639.1:p.Phe290Val

Select item 146207477012.

rs1462074770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65399822 (GRCh38)
11:65167293 (GRCh37)
Canonical SPDI:: NC_000011.10:65399821:G:A
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65399822G>A, NC_000011.9:g.65167293G>A, NM_031904.5:c.890G>A, NM_031904.4:c.890G>A, NM_031904.3:c.890G>A, NM_001300833.3:c.788G>A, NM_001300833.2:c.788G>A, NM_001300833.1:c.788G>A, NM_001300832.3:c.722G>A, NM_001300832.2:c.722G>A, NM_001300832.1:c.722G>A, XR_007062512.1:n.1111G>A, XR_007062511.1:n.1111G>A, XR_007062510.1:n.1111G>A, XM_047427684.1:c.929G>A, XM_047427683.1:c.944G>A, NP_114110.1:p.Ser297Asn, NP_001287762.1:p.Ser263Asn, NP_001287761.1:p.Ser241Asn, XP_047283640.1:p.Ser310Asn, XP_047283639.1:p.Ser315Asn

Select item 146138196813.

rs1461381968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65411258 (GRCh38)
11:65178729 (GRCh37)
Canonical SPDI:: NC_000011.10:65411257:A:G
Gene:: FRMD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65411258A>G, NC_000011.9:g.65178729A>G, NM_031904.5:c.1293A>G, NM_031904.4:c.1293A>G, NM_031904.3:c.1293A>G, NM_001300833.3:c.1191A>G, NM_001300833.2:c.1191A>G, NM_001300833.1:c.1191A>G, NM_001300832.3:c.1125A>G, NM_001300832.2:c.1125A>G, NM_001300832.1:c.1125A>G, XR_007062512.1:n.1514A>G, XR_007062511.1:n.1514A>G, XR_007062510.1:n.1514A>G, XM_047427684.1:c.1332A>G, XM_047427683.1:c.1347A>G

Select item 145996722514.

rs1459967225 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGGC [Show Flanks]
Chromosome:: 11:65396881 (GRCh38)
11:65164353 (GRCh37)
Canonical SPDI:: NC_000011.10:65396881:GGGCCGGGCCGGGC:GGGCCGGGCCGGGCCGGGC
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGCCGGGCCGGGCCGGGC=0./0 (ALFA)
GGGCC=0.000005/1 (GnomAD_exomes)
GGGCC=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65396886CGGGC[3], NC_000011.9:g.65164357CGGGC[3], NM_031904.5:c.674_678dup, NM_031904.4:c.674_678dup, NM_031904.3:c.674_678dup, NM_001300833.3:c.572_576dup, NM_001300833.2:c.572_576dup, NM_001300833.1:c.572_576dup, NM_001300832.3:c.506_510dup, NM_001300832.2:c.506_510dup, NM_001300832.1:c.506_510dup, XR_007062512.1:n.890CGGGC[3], XR_007062511.1:n.890CGGGC[3], XR_007062510.1:n.890CGGGC[3], XM_047427684.1:c.713_717dup, XM_047427683.1:c.728_732dup, NP_114110.1:p.Glu227fs, NP_001287762.1:p.Glu193fs, NP_001287761.1:p.Glu171fs, XP_047283640.1:p.Glu240fs, XP_047283639.1:p.Glu245fs

Select item 145795738115.

rs1457957381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65394331 (GRCh38)
11:65161802 (GRCh37)
Canonical SPDI:: NC_000011.10:65394330:T:C
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.65394331T>C, NC_000011.9:g.65161802T>C, NM_031904.5:c.487T>C, NM_031904.4:c.487T>C, NM_031904.3:c.487T>C, NM_001300833.3:c.385T>C, NM_001300833.2:c.385T>C, NM_001300833.1:c.385T>C, NM_001300832.3:c.319T>C, NM_001300832.2:c.319T>C, NM_001300832.1:c.319T>C, XR_007062512.1:n.708T>C, XR_007062511.1:n.708T>C, XR_007062510.1:n.708T>C, XM_047427684.1:c.526T>C, XM_047427683.1:c.541T>C, NP_114110.1:p.Cys163Arg, NP_001287762.1:p.Cys129Arg, NP_001287761.1:p.Cys107Arg, XP_047283640.1:p.Cys176Arg, XP_047283639.1:p.Cys181Arg

Select item 145627939516.

rs1456279395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65387071 (GRCh38)
11:65154542 (GRCh37)
Canonical SPDI:: NC_000011.10:65387070:G:A
Gene:: FRMD8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65387071G>A, NC_000011.9:g.65154542G>A, NM_031904.5:c.35G>A, NM_031904.4:c.35G>A, NM_031904.3:c.35G>A, NM_001300833.3:c.35G>A, NM_001300833.2:c.35G>A, NM_001300833.1:c.35G>A, NM_001300832.3:c.35G>A, NM_001300832.2:c.35G>A, NM_001300832.1:c.35G>A, XR_007062512.1:n.256G>A, XR_007062511.1:n.256G>A, XR_007062510.1:n.256G>A, XM_047427684.1:c.74G>A, XM_047427683.1:c.191G>A, NP_114110.1:p.Gly12Asp, NP_001287762.1:p.Gly12Asp, NP_001287761.1:p.Gly12Asp, XP_047283640.1:p.Gly25Asp, XP_047283639.1:p.Gly64Asp

Select item 145569980217.

rs1455699802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65396805 (GRCh38)
11:65164276 (GRCh37)
Canonical SPDI:: NC_000011.10:65396804:G:A
Gene:: FRMD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65396805G>A, NC_000011.9:g.65164276G>A, NM_031904.5:c.588G>A, NM_031904.4:c.588G>A, NM_031904.3:c.588G>A, NM_001300833.3:c.486G>A, NM_001300833.2:c.486G>A, NM_001300833.1:c.486G>A, NM_001300832.3:c.420G>A, NM_001300832.2:c.420G>A, NM_001300832.1:c.420G>A, XR_007062512.1:n.809G>A, XR_007062511.1:n.809G>A, XR_007062510.1:n.809G>A, XM_047427684.1:c.627G>A, XM_047427683.1:c.642G>A

Select item 145367529818.

rs1453675298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65411255 (GRCh38)
11:65178726 (GRCh37)
Canonical SPDI:: NC_000011.10:65411254:G:A
Gene:: FRMD8 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.65411255G>A, NC_000011.9:g.65178726G>A, NM_031904.5:c.1290G>A, NM_031904.4:c.1290G>A, NM_031904.3:c.1290G>A, NM_001300833.3:c.1188G>A, NM_001300833.2:c.1188G>A, NM_001300833.1:c.1188G>A, NM_001300832.3:c.1122G>A, NM_001300832.2:c.1122G>A, NM_001300832.1:c.1122G>A, XR_007062512.1:n.1511G>A, XR_007062511.1:n.1511G>A, XR_007062510.1:n.1511G>A, XM_047427684.1:c.1329G>A, XM_047427683.1:c.1344G>A

Select item 144674673319.

rs1446746733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:65404912 (GRCh38)
11:65172383 (GRCh37)
Canonical SPDI:: NC_000011.10:65404911:G:C,NC_000011.10:65404911:G:T
Gene:: FRMD8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_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)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65404912G>C, NC_000011.10:g.65404912G>T, NC_000011.9:g.65172383G>C, NC_000011.9:g.65172383G>T, NM_031904.5:c.1120G>C, NM_031904.5:c.1120G>T, NM_031904.4:c.1120G>C, NM_031904.4:c.1120G>T, NM_031904.3:c.1120G>C, NM_031904.3:c.1120G>T, NM_001300833.3:c.1018G>C, NM_001300833.3:c.1018G>T, NM_001300833.2:c.1018G>C, NM_001300833.2:c.1018G>T, NM_001300833.1:c.1018G>C, NM_001300833.1:c.1018G>T, NM_001300832.3:c.952G>C, NM_001300832.3:c.952G>T, NM_001300832.2:c.952G>C, NM_001300832.2:c.952G>T, NM_001300832.1:c.952G>C, NM_001300832.1:c.952G>T, XR_007062512.1:n.1341G>C, XR_007062512.1:n.1341G>T, XR_007062511.1:n.1341G>C, XR_007062511.1:n.1341G>T, XR_007062510.1:n.1341G>C, XR_007062510.1:n.1341G>T, XM_047427684.1:c.1159G>C, XM_047427684.1:c.1159G>T, XM_047427683.1:c.1174G>C, XM_047427683.1:c.1174G>T, NP_114110.1:p.Ala374Pro, NP_114110.1:p.Ala374Ser, NP_001287762.1:p.Ala340Pro, NP_001287762.1:p.Ala340Ser, NP_001287761.1:p.Ala318Pro, NP_001287761.1:p.Ala318Ser, XP_047283640.1:p.Ala387Pro, XP_047283640.1:p.Ala387Ser, XP_047283639.1:p.Ala392Pro, XP_047283639.1:p.Ala392Ser

Select item 144564442320.

rs1445644423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65394306 (GRCh38)
11:65161777 (GRCh37)
Canonical SPDI:: NC_000011.10:65394305:C:T
Gene:: FRMD8 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.65394306C>T, NC_000011.9:g.65161777C>T, NM_031904.5:c.462C>T, NM_031904.4:c.462C>T, NM_031904.3:c.462C>T, NM_001300833.3:c.360C>T, NM_001300833.2:c.360C>T, NM_001300833.1:c.360C>T, NM_001300832.3:c.294C>T, NM_001300832.2:c.294C>T, NM_001300832.1:c.294C>T, XR_007062512.1:n.683C>T, XR_007062511.1:n.683C>T, XR_007062510.1:n.683C>T, XM_047427684.1:c.501C>T, XM_047427683.1:c.516C>T

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