SNP Links for Protein (Select 768039739) - SNP

Links from Protein

Items: 1 to 20 of 286

<< First< Prev

Page of 15

Next >Last >>

Select item 14886803071.

rs1488680307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154696014 (GRCh38)
X:153924289 (GRCh37)
Canonical SPDI:: NC_000023.11:154696013:C:T
Gene:: GAB3 (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=0.000011/3 (TOPMED)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.154696014C>T, NW_003871103.3:g.2129993C>T, NG_012834.2:g.60060G>A, NM_080612.4:c.1430G>A, NM_080612.3:c.1430G>A, NM_080612.2:c.1430G>A, NM_001081573.3:c.1433G>A, NM_001081573.2:c.1433G>A, NM_001081573.1:c.1433G>A, NM_001282283.2:c.1433G>A, NM_001282283.1:c.1433G>A, NR_104114.2:n.963G>A, NR_104114.1:n.980G>A, NC_000023.10:g.153924289C>T, XM_011531103.2:c.1433G>A, XM_011531103.1:c.1433G>A, XM_011531106.2:c.1433G>A, XM_011531106.1:c.1433G>A, XR_938505.2:n.1485G>A, XR_938505.1:n.1458G>A, XM_006724804.2:c.1433G>A, XM_006724804.1:c.1433G>A, XM_005274648.2:c.1433G>A, XM_005274648.1:c.1433G>A, XM_011531105.2:c.1433G>A, XM_011531105.1:c.1433G>A, XM_047441834.1:c.1367G>A, XM_047441835.1:c.1364G>A, XM_047441833.1:c.1433G>A, NP_542179.1:p.Arg477Gln, NP_001075042.1:p.Arg478Gln, NP_001269212.1:p.Arg478Gln, XP_011529405.1:p.Arg478Gln, XP_011529408.1:p.Arg478Gln, XP_006724867.1:p.Arg478Gln, XP_005274705.1:p.Arg478Gln, XP_011529407.1:p.Arg478Gln, XP_047297790.1:p.Arg456Gln, XP_047297791.1:p.Arg455Gln, XP_047297789.1:p.Arg478Gln

Select item 14855855962.

rs1485585596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154712458 (GRCh38)
X:153940733 (GRCh37)
Canonical SPDI:: NC_000023.11:154712457:G:A
Gene:: GAB3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154712458G>A, NW_003871103.3:g.2146437G>A, NG_012834.2:g.43616C>T, NM_080612.4:c.837C>T, NM_080612.3:c.837C>T, NM_080612.2:c.837C>T, NM_001081573.3:c.840C>T, NM_001081573.2:c.840C>T, NM_001081573.1:c.840C>T, NM_001282283.2:c.840C>T, NM_001282283.1:c.840C>T, NC_000023.10:g.153940733G>A, XM_011531103.2:c.840C>T, XM_011531103.1:c.840C>T, XM_011531106.2:c.840C>T, XM_011531106.1:c.840C>T, XR_938505.2:n.892C>T, XR_938505.1:n.865C>T, XM_006724804.2:c.840C>T, XM_006724804.1:c.840C>T, XM_005274648.2:c.840C>T, XM_005274648.1:c.840C>T, XM_011531105.2:c.840C>T, XM_011531105.1:c.840C>T, XM_047441834.1:c.774C>T, XM_047441835.1:c.771C>T, XM_047441833.1:c.840C>T

Select item 14683925723.

rs1468392572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154697158 (GRCh38)
X:153925433 (GRCh37)
Canonical SPDI:: NC_000023.11:154697157:A:G
Gene:: GAB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154697158A>G, NW_003871103.3:g.2131137A>G, NG_012834.2:g.58916T>C, NM_080612.4:c.1398T>C, NM_080612.3:c.1398T>C, NM_080612.2:c.1398T>C, NM_001081573.3:c.1401T>C, NM_001081573.2:c.1401T>C, NM_001081573.1:c.1401T>C, NM_001282283.2:c.1401T>C, NM_001282283.1:c.1401T>C, NR_104114.2:n.931T>C, NR_104114.1:n.948T>C, NC_000023.10:g.153925433A>G, XM_011531103.2:c.1401T>C, XM_011531103.1:c.1401T>C, XM_011531106.2:c.1401T>C, XM_011531106.1:c.1401T>C, XR_938505.2:n.1453T>C, XR_938505.1:n.1426T>C, XM_006724804.2:c.1401T>C, XM_006724804.1:c.1401T>C, XM_005274648.2:c.1401T>C, XM_005274648.1:c.1401T>C, XM_011531105.2:c.1401T>C, XM_011531105.1:c.1401T>C, XM_047441834.1:c.1335T>C, XM_047441835.1:c.1332T>C, XM_047441833.1:c.1401T>C

Select item 14658929314.

rs1465892931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:154699366 (GRCh38)
X:153927641 (GRCh37)
Canonical SPDI:: NC_000023.11:154699365:T:G
Gene:: GAB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154699366T>G, NW_003871103.3:g.2133345T>G, NG_012834.2:g.56708A>C, NM_080612.4:c.1270A>C, NM_080612.3:c.1270A>C, NM_080612.2:c.1270A>C, NM_001081573.3:c.1273A>C, NM_001081573.2:c.1273A>C, NM_001081573.1:c.1273A>C, NM_001282283.2:c.1273A>C, NM_001282283.1:c.1273A>C, NR_104114.2:n.803A>C, NR_104114.1:n.820A>C, NC_000023.10:g.153927641T>G, XM_011531103.2:c.1273A>C, XM_011531103.1:c.1273A>C, XM_011531106.2:c.1273A>C, XM_011531106.1:c.1273A>C, XR_938505.2:n.1325A>C, XR_938505.1:n.1298A>C, XM_006724804.2:c.1273A>C, XM_006724804.1:c.1273A>C, XM_005274648.2:c.1273A>C, XM_005274648.1:c.1273A>C, XM_011531105.2:c.1273A>C, XM_011531105.1:c.1273A>C, XM_047441834.1:c.1207A>C, XM_047441835.1:c.1204A>C, XM_047441833.1:c.1273A>C, NP_542179.1:p.Ser424Arg, NP_001075042.1:p.Ser425Arg, NP_001269212.1:p.Ser425Arg, XP_011529405.1:p.Ser425Arg, XP_011529408.1:p.Ser425Arg, XP_006724867.1:p.Ser425Arg, XP_005274705.1:p.Ser425Arg, XP_011529407.1:p.Ser425Arg, XP_047297790.1:p.Ser403Arg, XP_047297791.1:p.Ser402Arg, XP_047297789.1:p.Ser425Arg

Select item 14652616005.

rs1465261600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154750956 (GRCh38)
X:153979231 (GRCh37)
Canonical SPDI:: NC_000023.11:154750955:A:G
Gene:: GAB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154750956A>G, NW_003871103.3:g.2184935A>G, NG_012834.2:g.5118T>C, NM_080612.4:c.70T>C, NM_080612.3:c.70T>C, NM_080612.2:c.70T>C, NM_001081573.3:c.70T>C, NM_001081573.2:c.70T>C, NM_001081573.1:c.70T>C, NM_001282283.2:c.70T>C, NM_001282283.1:c.70T>C, NC_000023.10:g.153979231A>G, XM_011531103.2:c.70T>C, XM_011531103.1:c.70T>C, XM_011531106.2:c.70T>C, XM_011531106.1:c.70T>C, XR_938505.2:n.122T>C, XR_938505.1:n.95T>C, XM_006724804.2:c.70T>C, XM_006724804.1:c.70T>C, XM_005274648.2:c.70T>C, XM_005274648.1:c.70T>C, XM_011531105.2:c.70T>C, XM_011531105.1:c.70T>C, XM_047441833.1:c.70T>C, NP_542179.1:p.Tyr24His, NP_001075042.1:p.Tyr24His, NP_001269212.1:p.Tyr24His, XP_011529405.1:p.Tyr24His, XP_011529408.1:p.Tyr24His, XP_006724867.1:p.Tyr24His, XP_005274705.1:p.Tyr24His, XP_011529407.1:p.Tyr24His, XP_047297789.1:p.Tyr24His

Select item 14425522186.

rs1442552218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154713328 (GRCh38)
X:153941603 (GRCh37)
Canonical SPDI:: NC_000023.11:154713327:T:C
Gene:: GAB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154713328T>C, NW_003871103.3:g.2147307T>C, NG_012834.2:g.42746A>G, NM_080612.4:c.472A>G, NM_080612.3:c.472A>G, NM_080612.2:c.472A>G, NM_001081573.3:c.475A>G, NM_001081573.2:c.475A>G, NM_001081573.1:c.475A>G, NM_001282283.2:c.475A>G, NM_001282283.1:c.475A>G, NR_104114.2:n.478A>G, NR_104114.1:n.495A>G, NC_000023.10:g.153941603T>C, XM_011531103.2:c.475A>G, XM_011531103.1:c.475A>G, XM_011531106.2:c.475A>G, XM_011531106.1:c.475A>G, XR_938505.2:n.527A>G, XR_938505.1:n.500A>G, XM_006724804.2:c.475A>G, XM_006724804.1:c.475A>G, XM_005274648.2:c.475A>G, XM_005274648.1:c.475A>G, XM_011531105.2:c.475A>G, XM_011531105.1:c.475A>G, XM_047441834.1:c.409A>G, XM_047441835.1:c.406A>G, XM_047441833.1:c.475A>G, NP_542179.1:p.Arg158Gly, NP_001075042.1:p.Arg159Gly, NP_001269212.1:p.Arg159Gly, XP_011529405.1:p.Arg159Gly, XP_011529408.1:p.Arg159Gly, XP_006724867.1:p.Arg159Gly, XP_005274705.1:p.Arg159Gly, XP_011529407.1:p.Arg159Gly, XP_047297790.1:p.Arg137Gly, XP_047297791.1:p.Arg136Gly, XP_047297789.1:p.Arg159Gly

Select item 14364578137.

rs1436457813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154700029 (GRCh38)
X:153928304 (GRCh37)
Canonical SPDI:: NC_000023.11:154700028:C:T
Gene:: GAB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154700029C>T, NW_003871103.3:g.2134008C>T, NG_012834.2:g.56045G>A, NM_080612.4:c.1097G>A, NM_080612.3:c.1097G>A, NM_080612.2:c.1097G>A, NM_001081573.3:c.1100G>A, NM_001081573.2:c.1100G>A, NM_001081573.1:c.1100G>A, NM_001282283.2:c.1100G>A, NM_001282283.1:c.1100G>A, NR_104114.2:n.630G>A, NR_104114.1:n.647G>A, NC_000023.10:g.153928304C>T, XM_011531103.2:c.1100G>A, XM_011531103.1:c.1100G>A, XM_011531106.2:c.1100G>A, XM_011531106.1:c.1100G>A, XR_938505.2:n.1152G>A, XR_938505.1:n.1125G>A, XM_006724804.2:c.1100G>A, XM_006724804.1:c.1100G>A, XM_005274648.2:c.1100G>A, XM_005274648.1:c.1100G>A, XM_011531105.2:c.1100G>A, XM_011531105.1:c.1100G>A, XM_047441834.1:c.1034G>A, XM_047441835.1:c.1031G>A, XM_047441833.1:c.1100G>A, NP_542179.1:p.Arg366Gln, NP_001075042.1:p.Arg367Gln, NP_001269212.1:p.Arg367Gln, XP_011529405.1:p.Arg367Gln, XP_011529408.1:p.Arg367Gln, XP_006724867.1:p.Arg367Gln, XP_005274705.1:p.Arg367Gln, XP_011529407.1:p.Arg367Gln, XP_047297790.1:p.Arg345Gln, XP_047297791.1:p.Arg344Gln, XP_047297789.1:p.Arg367Gln

Select item 14315205808.

rs1431520580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154712698 (GRCh38)
X:153940973 (GRCh37)
Canonical SPDI:: NC_000023.11:154712697:T:C
Gene:: GAB3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.154712698T>C, NW_003871103.3:g.2146677T>C, NG_012834.2:g.43376A>G, NM_080612.4:c.597A>G, NM_080612.3:c.597A>G, NM_080612.2:c.597A>G, NM_001081573.3:c.600A>G, NM_001081573.2:c.600A>G, NM_001081573.1:c.600A>G, NM_001282283.2:c.600A>G, NM_001282283.1:c.600A>G, NC_000023.10:g.153940973T>C, XM_011531103.2:c.600A>G, XM_011531103.1:c.600A>G, XM_011531106.2:c.600A>G, XM_011531106.1:c.600A>G, XR_938505.2:n.652A>G, XR_938505.1:n.625A>G, XM_006724804.2:c.600A>G, XM_006724804.1:c.600A>G, XM_005274648.2:c.600A>G, XM_005274648.1:c.600A>G, XM_011531105.2:c.600A>G, XM_011531105.1:c.600A>G, XM_047441834.1:c.534A>G, XM_047441835.1:c.531A>G, XM_047441833.1:c.600A>G

Select item 14266203929.

rs1426620392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154677996 (GRCh38)
X:153906273 (GRCh37)
Canonical SPDI:: NC_000023.11:154677995:G:A
Gene:: GAB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154677996G>A, NW_003871103.3:g.2111975G>A, NG_012834.2:g.78078C>T, NM_080612.4:c.*182C>T, NM_080612.3:c.*182C>T, NM_080612.2:c.*182C>T, NM_001081573.3:c.*182C>T, NM_001081573.2:c.*182C>T, NM_001081573.1:c.*182C>T, NM_001282283.2:c.*182C>T, NM_001282283.1:c.*182C>T, NR_104114.2:n.1476C>T, NR_104114.1:n.1493C>T, NC_000023.10:g.153906273G>A, XM_011531103.2:c.1831C>T, XM_011531103.1:c.1831C>T, XM_011531106.2:c.1714C>T, XM_011531106.1:c.1714C>T, XR_938505.2:n.1883C>T, XR_938505.1:n.1856C>T, XM_047441834.1:c.*182C>T, XP_011529405.1:p.His611Tyr, XP_011529408.1:p.His572Tyr

Select item 142524895810.

rs1425248958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:154712370 (GRCh38)
X:153940645 (GRCh37)
Canonical SPDI:: NC_000023.11:154712369:G:T
Gene:: GAB3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154712370G>T, NW_003871103.3:g.2146349G>T, NG_012834.2:g.43704C>A, NM_080612.4:c.925C>A, NM_080612.3:c.925C>A, NM_080612.2:c.925C>A, NM_001081573.3:c.928C>A, NM_001081573.2:c.928C>A, NM_001081573.1:c.928C>A, NM_001282283.2:c.928C>A, NM_001282283.1:c.928C>A, NC_000023.10:g.153940645G>T, XM_011531103.2:c.928C>A, XM_011531103.1:c.928C>A, XM_011531106.2:c.928C>A, XM_011531106.1:c.928C>A, XR_938505.2:n.980C>A, XR_938505.1:n.953C>A, XM_006724804.2:c.928C>A, XM_006724804.1:c.928C>A, XM_005274648.2:c.928C>A, XM_005274648.1:c.928C>A, XM_011531105.2:c.928C>A, XM_011531105.1:c.928C>A, XM_047441834.1:c.862C>A, XM_047441835.1:c.859C>A, XM_047441833.1:c.928C>A, NP_542179.1:p.Pro309Thr, NP_001075042.1:p.Pro310Thr, NP_001269212.1:p.Pro310Thr, XP_011529405.1:p.Pro310Thr, XP_011529408.1:p.Pro310Thr, XP_006724867.1:p.Pro310Thr, XP_005274705.1:p.Pro310Thr, XP_011529407.1:p.Pro310Thr, XP_047297790.1:p.Pro288Thr, XP_047297791.1:p.Pro287Thr, XP_047297789.1:p.Pro310Thr

Select item 141692109511.

rs1416921095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:154697135 (GRCh38)
X:153925410 (GRCh37)
Canonical SPDI:: NC_000023.11:154697134:G:C,NC_000023.11:154697134:G:T
Gene:: GAB3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.154697135G>C, NC_000023.11:g.154697135G>T, NW_003871103.3:g.2131114G>C, NW_003871103.3:g.2131114G>T, NG_012834.2:g.58939C>G, NG_012834.2:g.58939C>A, NM_080612.4:c.1421C>G, NM_080612.4:c.1421C>A, NM_080612.3:c.1421C>G, NM_080612.3:c.1421C>A, NM_080612.2:c.1421C>G, NM_080612.2:c.1421C>A, NM_001081573.3:c.1424C>G, NM_001081573.3:c.1424C>A, NM_001081573.2:c.1424C>G, NM_001081573.2:c.1424C>A, NM_001081573.1:c.1424C>G, NM_001081573.1:c.1424C>A, NM_001282283.2:c.1424C>G, NM_001282283.2:c.1424C>A, NM_001282283.1:c.1424C>G, NM_001282283.1:c.1424C>A, NR_104114.2:n.954C>G, NR_104114.2:n.954C>A, NR_104114.1:n.971C>G, NR_104114.1:n.971C>A, NC_000023.10:g.153925410G>C, NC_000023.10:g.153925410G>T, XM_011531103.2:c.1424C>G, XM_011531103.2:c.1424C>A, XM_011531103.1:c.1424C>G, XM_011531103.1:c.1424C>A, XM_011531106.2:c.1424C>G, XM_011531106.2:c.1424C>A, XM_011531106.1:c.1424C>G, XM_011531106.1:c.1424C>A, XR_938505.2:n.1476C>G, XR_938505.2:n.1476C>A, XR_938505.1:n.1449C>G, XR_938505.1:n.1449C>A, XM_006724804.2:c.1424C>G, XM_006724804.2:c.1424C>A, XM_006724804.1:c.1424C>G, XM_006724804.1:c.1424C>A, XM_005274648.2:c.1424C>G, XM_005274648.2:c.1424C>A, XM_005274648.1:c.1424C>G, XM_005274648.1:c.1424C>A, XM_011531105.2:c.1424C>G, XM_011531105.2:c.1424C>A, XM_011531105.1:c.1424C>G, XM_011531105.1:c.1424C>A, XM_047441834.1:c.1358C>G, XM_047441834.1:c.1358C>A, XM_047441835.1:c.1355C>G, XM_047441835.1:c.1355C>A, XM_047441833.1:c.1424C>G, XM_047441833.1:c.1424C>A, NP_542179.1:p.Pro474Arg, NP_542179.1:p.Pro474His, NP_001075042.1:p.Pro475Arg, NP_001075042.1:p.Pro475His, NP_001269212.1:p.Pro475Arg, NP_001269212.1:p.Pro475His, XP_011529405.1:p.Pro475Arg, XP_011529405.1:p.Pro475His, XP_011529408.1:p.Pro475Arg, XP_011529408.1:p.Pro475His, XP_006724867.1:p.Pro475Arg, XP_006724867.1:p.Pro475His, XP_005274705.1:p.Pro475Arg, XP_005274705.1:p.Pro475His, XP_011529407.1:p.Pro475Arg, XP_011529407.1:p.Pro475His, XP_047297790.1:p.Pro453Arg, XP_047297790.1:p.Pro453His, XP_047297791.1:p.Pro452Arg, XP_047297791.1:p.Pro452His, XP_047297789.1:p.Pro475Arg, XP_047297789.1:p.Pro475His

Select item 141495823912.

rs1414958239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:154699345 (GRCh38)
X:153927620 (GRCh37)
Canonical SPDI:: NC_000023.11:154699344:C:A
Gene:: GAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154699345C>A, NW_003871103.3:g.2133324C>A, NG_012834.2:g.56729G>T, NM_080612.4:c.1291G>T, NM_080612.3:c.1291G>T, NM_080612.2:c.1291G>T, NM_001081573.3:c.1294G>T, NM_001081573.2:c.1294G>T, NM_001081573.1:c.1294G>T, NM_001282283.2:c.1294G>T, NM_001282283.1:c.1294G>T, NR_104114.2:n.824G>T, NR_104114.1:n.841G>T, NC_000023.10:g.153927620C>A, XM_011531103.2:c.1294G>T, XM_011531103.1:c.1294G>T, XM_011531106.2:c.1294G>T, XM_011531106.1:c.1294G>T, XR_938505.2:n.1346G>T, XR_938505.1:n.1319G>T, XM_006724804.2:c.1294G>T, XM_006724804.1:c.1294G>T, XM_005274648.2:c.1294G>T, XM_005274648.1:c.1294G>T, XM_011531105.2:c.1294G>T, XM_011531105.1:c.1294G>T, XM_047441834.1:c.1228G>T, XM_047441835.1:c.1225G>T, XM_047441833.1:c.1294G>T, NP_542179.1:p.Ala431Ser, NP_001075042.1:p.Ala432Ser, NP_001269212.1:p.Ala432Ser, XP_011529405.1:p.Ala432Ser, XP_011529408.1:p.Ala432Ser, XP_006724867.1:p.Ala432Ser, XP_005274705.1:p.Ala432Ser, XP_011529407.1:p.Ala432Ser, XP_047297790.1:p.Ala410Ser, XP_047297791.1:p.Ala409Ser, XP_047297789.1:p.Ala432Ser

Select item 141228724513.

rs1412287245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154695969 (GRCh38)
X:153924244 (GRCh37)
Canonical SPDI:: NC_000023.11:154695968:C:T
Gene:: GAB3 (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=0.000019/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.154695969C>T, NW_003871103.3:g.2129948C>T, NG_012834.2:g.60105G>A, NM_080612.4:c.1475G>A, NM_080612.3:c.1475G>A, NM_080612.2:c.1475G>A, NM_001081573.3:c.1478G>A, NM_001081573.2:c.1478G>A, NM_001081573.1:c.1478G>A, NM_001282283.2:c.1478G>A, NM_001282283.1:c.1478G>A, NR_104114.2:n.1008G>A, NR_104114.1:n.1025G>A, NC_000023.10:g.153924244C>T, XM_011531103.2:c.1478G>A, XM_011531103.1:c.1478G>A, XM_011531106.2:c.1478G>A, XM_011531106.1:c.1478G>A, XR_938505.2:n.1530G>A, XR_938505.1:n.1503G>A, XM_006724804.2:c.1478G>A, XM_006724804.1:c.1478G>A, XM_005274648.2:c.1478G>A, XM_005274648.1:c.1478G>A, XM_011531105.2:c.1478G>A, XM_011531105.1:c.1478G>A, XM_047441834.1:c.1412G>A, XM_047441835.1:c.1409G>A, XM_047441833.1:c.1478G>A, NP_542179.1:p.Arg492Lys, NP_001075042.1:p.Arg493Lys, NP_001269212.1:p.Arg493Lys, XP_011529405.1:p.Arg493Lys, XP_011529408.1:p.Arg493Lys, XP_006724867.1:p.Arg493Lys, XP_005274705.1:p.Arg493Lys, XP_011529407.1:p.Arg493Lys, XP_047297790.1:p.Arg471Lys, XP_047297791.1:p.Arg470Lys, XP_047297789.1:p.Arg493Lys

Select item 141125334314.

rs1411253343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154699403 (GRCh38)
X:153927678 (GRCh37)
Canonical SPDI:: NC_000023.11:154699402:A:G
Gene:: GAB3 (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=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154699403A>G, NW_003871103.3:g.2133382A>G, NG_012834.2:g.56671T>C, NM_080612.4:c.1233T>C, NM_080612.3:c.1233T>C, NM_080612.2:c.1233T>C, NM_001081573.3:c.1236T>C, NM_001081573.2:c.1236T>C, NM_001081573.1:c.1236T>C, NM_001282283.2:c.1236T>C, NM_001282283.1:c.1236T>C, NR_104114.2:n.766T>C, NR_104114.1:n.783T>C, NC_000023.10:g.153927678A>G, XM_011531103.2:c.1236T>C, XM_011531103.1:c.1236T>C, XM_011531106.2:c.1236T>C, XM_011531106.1:c.1236T>C, XR_938505.2:n.1288T>C, XR_938505.1:n.1261T>C, XM_006724804.2:c.1236T>C, XM_006724804.1:c.1236T>C, XM_005274648.2:c.1236T>C, XM_005274648.1:c.1236T>C, XM_011531105.2:c.1236T>C, XM_011531105.1:c.1236T>C, XM_047441834.1:c.1170T>C, XM_047441835.1:c.1167T>C, XM_047441833.1:c.1236T>C

Select item 141117652115.

rs1411176521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154712375 (GRCh38)
X:153940650 (GRCh37)
Canonical SPDI:: NC_000023.11:154712374:G:A
Gene:: GAB3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.154712375G>A, NW_003871103.3:g.2146354G>A, NG_012834.2:g.43699C>T, NM_080612.4:c.920C>T, NM_080612.3:c.920C>T, NM_080612.2:c.920C>T, NM_001081573.3:c.923C>T, NM_001081573.2:c.923C>T, NM_001081573.1:c.923C>T, NM_001282283.2:c.923C>T, NM_001282283.1:c.923C>T, NC_000023.10:g.153940650G>A, XM_011531103.2:c.923C>T, XM_011531103.1:c.923C>T, XM_011531106.2:c.923C>T, XM_011531106.1:c.923C>T, XR_938505.2:n.975C>T, XR_938505.1:n.948C>T, XM_006724804.2:c.923C>T, XM_006724804.1:c.923C>T, XM_005274648.2:c.923C>T, XM_005274648.1:c.923C>T, XM_011531105.2:c.923C>T, XM_011531105.1:c.923C>T, XM_047441834.1:c.857C>T, XM_047441835.1:c.854C>T, XM_047441833.1:c.923C>T, NP_542179.1:p.Pro307Leu, NP_001075042.1:p.Pro308Leu, NP_001269212.1:p.Pro308Leu, XP_011529405.1:p.Pro308Leu, XP_011529408.1:p.Pro308Leu, XP_006724867.1:p.Pro308Leu, XP_005274705.1:p.Pro308Leu, XP_011529407.1:p.Pro308Leu, XP_047297790.1:p.Pro286Leu, XP_047297791.1:p.Pro285Leu, XP_047297789.1:p.Pro308Leu

Select item 139902348416.

rs1399023484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:154699396 (GRCh38)
X:153927671 (GRCh37)
Canonical SPDI:: NC_000023.11:154699395:A:T
Gene:: GAB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154699396A>T, NW_003871103.3:g.2133375A>T, NG_012834.2:g.56678T>A, NM_080612.4:c.1240T>A, NM_080612.3:c.1240T>A, NM_080612.2:c.1240T>A, NM_001081573.3:c.1243T>A, NM_001081573.2:c.1243T>A, NM_001081573.1:c.1243T>A, NM_001282283.2:c.1243T>A, NM_001282283.1:c.1243T>A, NR_104114.2:n.773T>A, NR_104114.1:n.790T>A, NC_000023.10:g.153927671A>T, XM_011531103.2:c.1243T>A, XM_011531103.1:c.1243T>A, XM_011531106.2:c.1243T>A, XM_011531106.1:c.1243T>A, XR_938505.2:n.1295T>A, XR_938505.1:n.1268T>A, XM_006724804.2:c.1243T>A, XM_006724804.1:c.1243T>A, XM_005274648.2:c.1243T>A, XM_005274648.1:c.1243T>A, XM_011531105.2:c.1243T>A, XM_011531105.1:c.1243T>A, XM_047441834.1:c.1177T>A, XM_047441835.1:c.1174T>A, XM_047441833.1:c.1243T>A, NP_542179.1:p.Tyr414Asn, NP_001075042.1:p.Tyr415Asn, NP_001269212.1:p.Tyr415Asn, XP_011529405.1:p.Tyr415Asn, XP_011529408.1:p.Tyr415Asn, XP_006724867.1:p.Tyr415Asn, XP_005274705.1:p.Tyr415Asn, XP_011529407.1:p.Tyr415Asn, XP_047297790.1:p.Tyr393Asn, XP_047297791.1:p.Tyr392Asn, XP_047297789.1:p.Tyr415Asn

Select item 139557677917.

rs1395576779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154678208 (GRCh38)
X:153906485 (GRCh37)
Canonical SPDI:: NC_000023.11:154678207:C:T
Gene:: GAB3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.154678208C>T, NW_003871103.3:g.2112187C>T, NG_012834.2:g.77866G>A, NM_080612.4:c.1731G>A, NM_080612.3:c.1731G>A, NM_080612.2:c.1731G>A, NM_001081573.3:c.1734G>A, NM_001081573.2:c.1734G>A, NM_001081573.1:c.1734G>A, NM_001282283.2:c.1617G>A, NM_001282283.1:c.1617G>A, NR_104114.2:n.1264G>A, NR_104114.1:n.1281G>A, NC_000023.10:g.153906485C>T, XM_011531103.2:c.1734G>A, XM_011531103.1:c.1734G>A, XM_011531106.2:c.1617G>A, XM_011531106.1:c.1617G>A, XR_938505.2:n.1786G>A, XR_938505.1:n.1759G>A, XM_006724804.2:c.1734G>A, XM_006724804.1:c.1734G>A, XM_005274648.2:c.1734G>A, XM_005274648.1:c.1734G>A, XM_011531105.2:c.1734G>A, XM_011531105.1:c.1734G>A, XM_047441834.1:c.1668G>A, XM_047441835.1:c.1665G>A, XM_047441833.1:c.1734G>A

Select item 138945781218.

rs1389457812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154678207 (GRCh38)
X:153906484 (GRCh37)
Canonical SPDI:: NC_000023.11:154678206:A:G
Gene:: GAB3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.154678207A>G, NW_003871103.3:g.2112186A>G, NG_012834.2:g.77867T>C, NM_080612.4:c.1732T>C, NM_080612.3:c.1732T>C, NM_080612.2:c.1732T>C, NM_001081573.3:c.1735T>C, NM_001081573.2:c.1735T>C, NM_001081573.1:c.1735T>C, NM_001282283.2:c.1618T>C, NM_001282283.1:c.1618T>C, NR_104114.2:n.1265T>C, NR_104114.1:n.1282T>C, NC_000023.10:g.153906484A>G, XM_011531103.2:c.1735T>C, XM_011531103.1:c.1735T>C, XM_011531106.2:c.1618T>C, XM_011531106.1:c.1618T>C, XR_938505.2:n.1787T>C, XR_938505.1:n.1760T>C, XM_006724804.2:c.1735T>C, XM_006724804.1:c.1735T>C, XM_005274648.2:c.1735T>C, XM_005274648.1:c.1735T>C, XM_011531105.2:c.1735T>C, XM_011531105.1:c.1735T>C, XM_047441834.1:c.1669T>C, XM_047441835.1:c.1666T>C, XM_047441833.1:c.1735T>C, NP_542179.1:p.Trp578Arg, NP_001075042.1:p.Trp579Arg, NP_001269212.1:p.Trp540Arg, XP_011529405.1:p.Trp579Arg, XP_011529408.1:p.Trp540Arg, XP_006724867.1:p.Trp579Arg, XP_005274705.1:p.Trp579Arg, XP_011529407.1:p.Trp579Arg, XP_047297790.1:p.Trp557Arg, XP_047297791.1:p.Trp556Arg, XP_047297789.1:p.Trp579Arg

Select item 138431884419.

rs1384318844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154713329 (GRCh38)
X:153941604 (GRCh37)
Canonical SPDI:: NC_000023.11:154713328:T:C
Gene:: GAB3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/2 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.154713329T>C, NW_003871103.3:g.2147308T>C, NG_012834.2:g.42745A>G, NM_080612.4:c.471A>G, NM_080612.3:c.471A>G, NM_080612.2:c.471A>G, NM_001081573.3:c.474A>G, NM_001081573.2:c.474A>G, NM_001081573.1:c.474A>G, NM_001282283.2:c.474A>G, NM_001282283.1:c.474A>G, NR_104114.2:n.477A>G, NR_104114.1:n.494A>G, NC_000023.10:g.153941604T>C, XM_011531103.2:c.474A>G, XM_011531103.1:c.474A>G, XM_011531106.2:c.474A>G, XM_011531106.1:c.474A>G, XR_938505.2:n.526A>G, XR_938505.1:n.499A>G, XM_006724804.2:c.474A>G, XM_006724804.1:c.474A>G, XM_005274648.2:c.474A>G, XM_005274648.1:c.474A>G, XM_011531105.2:c.474A>G, XM_011531105.1:c.474A>G, XM_047441834.1:c.408A>G, XM_047441835.1:c.405A>G, XM_047441833.1:c.474A>G

Select item 138419891820.

rs1384198918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:154716252 (GRCh38)
X:153944527 (GRCh37)
Canonical SPDI:: NC_000023.11:154716251:G:C
Gene:: GAB3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154716252G>C, NW_003871103.3:g.2150231G>C, NG_012834.2:g.39822C>G, NM_080612.4:c.150C>G, NM_080612.3:c.150C>G, NM_080612.2:c.150C>G, NM_001081573.3:c.150C>G, NM_001081573.2:c.150C>G, NM_001081573.1:c.150C>G, NM_001282283.2:c.150C>G, NM_001282283.1:c.150C>G, NR_104114.2:n.153C>G, NR_104114.1:n.170C>G, NC_000023.10:g.153944527G>C, XM_011531103.2:c.150C>G, XM_011531103.1:c.150C>G, XM_011531106.2:c.150C>G, XM_011531106.1:c.150C>G, XR_938505.2:n.202C>G, XR_938505.1:n.175C>G, XM_006724804.2:c.150C>G, XM_006724804.1:c.150C>G, XM_005274648.2:c.150C>G, XM_005274648.1:c.150C>G, XM_011531105.2:c.150C>G, XM_011531105.1:c.150C>G, XM_047441834.1:c.84C>G, XM_047441835.1:c.84C>G, XM_047441833.1:c.150C>G, NP_542179.1:p.Asn50Lys, NP_001075042.1:p.Asn50Lys, NP_001269212.1:p.Asn50Lys, XP_011529405.1:p.Asn50Lys, XP_011529408.1:p.Asn50Lys, XP_006724867.1:p.Asn50Lys, XP_005274705.1:p.Asn50Lys, XP_011529407.1:p.Asn50Lys, XP_047297790.1:p.Asn28Lys, XP_047297791.1:p.Asn28Lys, XP_047297789.1:p.Asn50Lys

<< First< Prev

Page of 15

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 286

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity