SNP Links for Protein (Select 4885349) - SNP

Links from Protein

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Select item 14898168311.

rs1489816831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119443709 (GRCh38)
10:121203221 (GRCh37)
Canonical SPDI:: NC_000010.11:119443708:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.119443709A>G, NC_000010.10:g.121203221A>G, NM_005308.3:c.1223A>G, NM_005308.2:c.1223A>G, XM_005269707.3:c.1133A>G, XM_005269707.2:c.1133A>G, XM_005269707.1:c.1133A>G, XM_005269708.2:c.1127A>G, XM_005269708.1:c.1127A>G, XM_047425120.1:c.908A>G, XM_047425121.1:c.908A>G, NP_005299.1:p.Tyr408Cys, XP_005269764.1:p.Tyr378Cys, XP_005269765.1:p.Tyr376Cys, XP_047281076.1:p.Tyr303Cys, XP_047281077.1:p.Tyr303Cys

Select item 14894951032.

rs1489495103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119454997 (GRCh38)
10:121214509 (GRCh37)
Canonical SPDI:: NC_000010.11:119454996:G:A
Gene:: GRK5 (Varview)
Functional Consequence:: missense_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_000010.11:g.119454997G>A, NC_000010.10:g.121214509G>A, NM_005308.3:c.1703G>A, NM_005308.2:c.1703G>A, XM_005269707.3:c.1613G>A, XM_005269707.2:c.1613G>A, XM_005269707.1:c.1613G>A, XM_005269708.2:c.1607G>A, XM_005269708.1:c.1607G>A, XM_047425120.1:c.1388G>A, XM_047425121.1:c.1388G>A, NP_005299.1:p.Ser568Asn, XP_005269764.1:p.Ser538Asn, XP_005269765.1:p.Ser536Asn, XP_047281076.1:p.Ser463Asn, XP_047281077.1:p.Ser463Asn

Select item 14848243793.

rs1484824379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119431425 (GRCh38)
10:121190937 (GRCh37)
Canonical SPDI:: NC_000010.11:119431424:T:C
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.119431425T>C, NC_000010.10:g.121190937T>C, NM_005308.3:c.636T>C, NM_005308.2:c.636T>C, XM_005269707.3:c.636T>C, XM_005269707.2:c.636T>C, XM_005269707.1:c.636T>C, XM_005269708.2:c.540T>C, XM_005269708.1:c.540T>C, XM_047425120.1:c.321T>C, XM_047425121.1:c.321T>C

Select item 14837430314.

rs1483743031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119443651 (GRCh38)
10:121203163 (GRCh37)
Canonical SPDI:: NC_000010.11:119443650:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119443651A>G, NC_000010.10:g.121203163A>G, NM_005308.3:c.1165A>G, NM_005308.2:c.1165A>G, XM_005269707.3:c.1075A>G, XM_005269707.2:c.1075A>G, XM_005269707.1:c.1075A>G, XM_005269708.2:c.1069A>G, XM_005269708.1:c.1069A>G, XM_047425120.1:c.850A>G, XM_047425121.1:c.850A>G, NP_005299.1:p.Lys389Glu, XP_005269764.1:p.Lys359Glu, XP_005269765.1:p.Lys357Glu, XP_047281076.1:p.Lys284Glu, XP_047281077.1:p.Lys284Glu

Select item 14831341915.

rs1483134191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:119380894 (GRCh38)
10:121140407 (GRCh37)
Canonical SPDI:: NC_000010.11:119380894:C:CC
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
HGVS:: NC_000010.11:g.119380895dup, NC_000010.10:g.121140407dup, NM_005308.3:c.229dup, NM_005308.2:c.229dup, XM_005269707.3:c.229dup, XM_005269707.2:c.229dup, XM_005269707.1:c.229dup, XM_005269708.2:c.133dup, XM_005269708.1:c.133dup, XM_047425120.1:c.-87dup, XM_047425121.1:c.-87dup, NP_005299.1:p.Leu77fs, XP_005269764.1:p.Leu77fs, XP_005269765.1:p.Leu45fs

Select item 14814731056.

rs1481473105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:119452711 (GRCh38)
10:121212223 (GRCh37)
Canonical SPDI:: NC_000010.11:119452710:A:C
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119452711A>C, NC_000010.10:g.121212223A>C, NM_005308.3:c.1445A>C, NM_005308.2:c.1445A>C, XM_005269707.3:c.1355A>C, XM_005269707.2:c.1355A>C, XM_005269707.1:c.1355A>C, XM_005269708.2:c.1349A>C, XM_005269708.1:c.1349A>C, XM_047425120.1:c.1130A>C, XM_047425121.1:c.1130A>C, NP_005299.1:p.Gln482Pro, XP_005269764.1:p.Gln452Pro, XP_005269765.1:p.Gln450Pro, XP_047281076.1:p.Gln377Pro, XP_047281077.1:p.Gln377Pro

Select item 14798321137.

rs1479832113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119453224 (GRCh38)
10:121212736 (GRCh37)
Canonical SPDI:: NC_000010.11:119453223:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119453224A>G, NC_000010.10:g.121212736A>G, NM_005308.3:c.1622A>G, NM_005308.2:c.1622A>G, XM_005269707.3:c.1532A>G, XM_005269707.2:c.1532A>G, XM_005269707.1:c.1532A>G, XM_005269708.2:c.1526A>G, XM_005269708.1:c.1526A>G, XM_047425120.1:c.1307A>G, XM_047425121.1:c.1307A>G, NP_005299.1:p.His541Arg, XP_005269764.1:p.His511Arg, XP_005269765.1:p.His509Arg, XP_047281076.1:p.His436Arg, XP_047281077.1:p.His436Arg

Select item 14750389528.

rs1475038952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119430388 (GRCh38)
10:121189900 (GRCh37)
Canonical SPDI:: NC_000010.11:119430387:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119430388A>G, NC_000010.10:g.121189900A>G, NM_005308.3:c.547A>G, NM_005308.2:c.547A>G, XM_005269707.3:c.547A>G, XM_005269707.2:c.547A>G, XM_005269707.1:c.547A>G, XM_005269708.2:c.451A>G, XM_005269708.1:c.451A>G, XM_047425120.1:c.232A>G, XM_047425121.1:c.232A>G, NP_005299.1:p.Lys183Glu, XP_005269764.1:p.Lys183Glu, XP_005269765.1:p.Lys151Glu, XP_047281076.1:p.Lys78Glu, XP_047281077.1:p.Lys78Glu

Select item 14740548509.

rs1474054850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119423217 (GRCh38)
10:121182729 (GRCh37)
Canonical SPDI:: NC_000010.11:119423216:G:A
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119423217G>A, NC_000010.10:g.121182729G>A, NM_005308.3:c.391G>A, NM_005308.2:c.391G>A, XM_005269707.3:c.391G>A, XM_005269707.2:c.391G>A, XM_005269707.1:c.391G>A, XM_005269708.2:c.295G>A, XM_005269708.1:c.295G>A, XM_047425120.1:c.76G>A, XM_047425121.1:c.76G>A, NP_005299.1:p.Glu131Lys, XP_005269764.1:p.Glu131Lys, XP_005269765.1:p.Glu99Lys, XP_047281076.1:p.Glu26Lys, XP_047281077.1:p.Glu26Lys

Select item 147218466110.

rs1472184661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119448176 (GRCh38)
10:121207688 (GRCh37)
Canonical SPDI:: NC_000010.11:119448175:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.119448176A>G, NC_000010.10:g.121207688A>G, NM_005308.3:c.1320A>G, NM_005308.2:c.1320A>G, XM_005269707.3:c.1230A>G, XM_005269707.2:c.1230A>G, XM_005269707.1:c.1230A>G, XM_005269708.2:c.1224A>G, XM_005269708.1:c.1224A>G, XM_047425120.1:c.1005A>G, XM_047425121.1:c.1005A>G

Select item 147163823811.

rs1471638238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119452791 (GRCh38)
10:121212303 (GRCh37)
Canonical SPDI:: NC_000010.11:119452790:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119452791A>G, NC_000010.10:g.121212303A>G, NM_005308.3:c.1525A>G, NM_005308.2:c.1525A>G, XM_005269707.3:c.1435A>G, XM_005269707.2:c.1435A>G, XM_005269707.1:c.1435A>G, XM_005269708.2:c.1429A>G, XM_005269708.1:c.1429A>G, XM_047425120.1:c.1210A>G, XM_047425121.1:c.1210A>G, NP_005299.1:p.Ile509Val, XP_005269764.1:p.Ile479Val, XP_005269765.1:p.Ile477Val, XP_047281076.1:p.Ile404Val, XP_047281077.1:p.Ile404Val

Select item 147031625612.

rs1470316256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:119396769 (GRCh38)
10:121156281 (GRCh37)
Canonical SPDI:: NC_000010.11:119396768:A:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.119396769A>G, NC_000010.10:g.121156281A>G, NM_005308.3:c.336A>G, NM_005308.2:c.336A>G, XM_005269707.3:c.336A>G, XM_005269707.2:c.336A>G, XM_005269707.1:c.336A>G, XM_005269708.2:c.240A>G, XM_005269708.1:c.240A>G, XM_047425120.1:c.21A>G, XM_047425121.1:c.21A>G

Select item 147003325313.

rs1470033253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:119453229 (GRCh38)
10:121212741 (GRCh37)
Canonical SPDI:: NC_000010.11:119453228:C:A
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119453229C>A, NC_000010.10:g.121212741C>A, NM_005308.3:c.1627C>A, NM_005308.2:c.1627C>A, XM_005269707.3:c.1537C>A, XM_005269707.2:c.1537C>A, XM_005269707.1:c.1537C>A, XM_005269708.2:c.1531C>A, XM_005269708.1:c.1531C>A, XM_047425120.1:c.1312C>A, XM_047425121.1:c.1312C>A, NP_005299.1:p.Pro543Thr, XP_005269764.1:p.Pro513Thr, XP_005269765.1:p.Pro511Thr, XP_047281076.1:p.Pro438Thr, XP_047281077.1:p.Pro438Thr

Select item 146947445414.

rs1469474454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119439764 (GRCh38)
10:121199276 (GRCh37)
Canonical SPDI:: NC_000010.11:119439763:T:C
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.119439764T>C, NC_000010.10:g.121199276T>C, NM_005308.3:c.963T>C, NM_005308.2:c.963T>C, XM_005269707.3:c.963T>C, XM_005269707.2:c.963T>C, XM_005269707.1:c.963T>C, XM_005269708.2:c.867T>C, XM_005269708.1:c.867T>C, XM_047425120.1:c.648T>C, XM_047425121.1:c.648T>C

Select item 146802827615.

rs1468028276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:119431524 (GRCh38)
10:121191036 (GRCh37)
Canonical SPDI:: NC_000010.11:119431523:T:G
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119431524T>G, NC_000010.10:g.121191036T>G, NM_005308.3:c.735T>G, NM_005308.2:c.735T>G, XM_005269707.3:c.735T>G, XM_005269707.2:c.735T>G, XM_005269707.1:c.735T>G, XM_005269708.2:c.639T>G, XM_005269708.1:c.639T>G, XM_047425120.1:c.420T>G, XM_047425121.1:c.420T>G, NP_005299.1:p.Phe245Leu, XP_005269764.1:p.Phe245Leu, XP_005269765.1:p.Phe213Leu, XP_047281076.1:p.Phe140Leu, XP_047281077.1:p.Phe140Leu

Select item 146781977516.

rs1467819775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119436840 (GRCh38)
10:121196352 (GRCh37)
Canonical SPDI:: NC_000010.11:119436839:C:T
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.119436840C>T, NC_000010.10:g.121196352C>T, NM_005308.3:c.928C>T, NM_005308.2:c.928C>T, XM_005269707.3:c.928C>T, XM_005269707.2:c.928C>T, XM_005269707.1:c.928C>T, XM_005269708.2:c.832C>T, XM_005269708.1:c.832C>T, XM_047425120.1:c.613C>T, XM_047425121.1:c.613C>T, NP_005299.1:p.Arg310Ter, XP_005269764.1:p.Arg310Ter, XP_005269765.1:p.Arg278Ter, XP_047281076.1:p.Arg205Ter, XP_047281077.1:p.Arg205Ter

Select item 146718196817.

rs1467181968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119443619 (GRCh38)
10:121203131 (GRCh37)
Canonical SPDI:: NC_000010.11:119443618:T:C
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.119443619T>C, NC_000010.10:g.121203131T>C, NM_005308.3:c.1133T>C, NM_005308.2:c.1133T>C, XM_005269707.3:c.1043T>C, XM_005269707.2:c.1043T>C, XM_005269707.1:c.1043T>C, XM_005269708.2:c.1037T>C, XM_005269708.1:c.1037T>C, XM_047425120.1:c.818T>C, XM_047425121.1:c.818T>C, NP_005299.1:p.Met378Thr, XP_005269764.1:p.Met348Thr, XP_005269765.1:p.Met346Thr, XP_047281076.1:p.Met273Thr, XP_047281077.1:p.Met273Thr

Select item 146705345118.

rs1467053451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:119448193 (GRCh38)
10:121207705 (GRCh37)
Canonical SPDI:: NC_000010.11:119448192:C:T
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119448193C>T, NC_000010.10:g.121207705C>T, NM_005308.3:c.1337C>T, NM_005308.2:c.1337C>T, XM_005269707.3:c.1247C>T, XM_005269707.2:c.1247C>T, XM_005269707.1:c.1247C>T, XM_005269708.2:c.1241C>T, XM_005269708.1:c.1241C>T, XM_047425120.1:c.1022C>T, XM_047425121.1:c.1022C>T, NP_005299.1:p.Pro446Leu, XP_005269764.1:p.Pro416Leu, XP_005269765.1:p.Pro414Leu, XP_047281076.1:p.Pro341Leu, XP_047281077.1:p.Pro341Leu

Select item 146509593719.

rs1465095937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:119425062 (GRCh38)
10:121184574 (GRCh37)
Canonical SPDI:: NC_000010.11:119425061:T:C
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.119425062T>C, NC_000010.10:g.121184574T>C, NM_005308.3:c.510T>C, NM_005308.2:c.510T>C, XM_005269707.3:c.510T>C, XM_005269707.2:c.510T>C, XM_005269707.1:c.510T>C, XM_005269708.2:c.414T>C, XM_005269708.1:c.414T>C, XM_047425120.1:c.195T>C, XM_047425121.1:c.195T>C

Select item 146188747720.

rs1461887477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:119423234 (GRCh38)
10:121182746 (GRCh37)
Canonical SPDI:: NC_000010.11:119423233:G:A
Gene:: GRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.119423234G>A, NC_000010.10:g.121182746G>A, NM_005308.3:c.408G>A, NM_005308.2:c.408G>A, XM_005269707.3:c.408G>A, XM_005269707.2:c.408G>A, XM_005269707.1:c.408G>A, XM_005269708.2:c.312G>A, XM_005269708.1:c.312G>A, XM_047425120.1:c.93G>A, XM_047425121.1:c.93G>A

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