SNP Links for Protein (Select 767948420) - SNP

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Links from Protein

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Select item 14753367181.

rs1475336718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151477375 (GRCh38)
7:151174461 (GRCh37)
Canonical SPDI:: NC_000007.14:151477374:A:G
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151477375A>G, NC_000007.13:g.151174461A>G, NM_005614.4:c.233T>C, NM_005614.3:c.233T>C, XM_011516457.3:c.200T>C, XM_011516457.2:c.200T>C, XM_011516457.1:c.200T>C, XM_024446854.2:c.200T>C, XM_024446854.1:c.200T>C, XM_047420685.1:c.200T>C, NP_005605.1:p.Ile78Thr, XP_011514759.1:p.Ile67Thr, XP_024302622.1:p.Ile67Thr, XP_047276641.1:p.Ile67Thr

Select item 14626885822.

rs1462688582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151498089 (GRCh38)
7:151195175 (GRCh37)
Canonical SPDI:: NC_000007.14:151498088:C:T
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151498089C>T, NC_000007.13:g.151195175C>T, XM_011516457.3:c.19G>A, XM_011516457.2:c.19G>A, XM_011516457.1:c.19G>A, XM_024446854.2:c.19G>A, XM_024446854.1:c.19G>A, XM_047420685.1:c.19G>A, XP_011514759.1:p.Gly7Arg, XP_024302622.1:p.Gly7Arg, XP_047276641.1:p.Gly7Arg

Select item 14548943963.

rs1454894396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151490961 (GRCh38)
7:151188047 (GRCh37)
Canonical SPDI:: NC_000007.14:151490960:C:T
Gene:: RHEB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151490961C>T, NC_000007.13:g.151188047C>T, NM_005614.4:c.106G>A, NM_005614.3:c.106G>A, XM_011516457.3:c.73G>A, XM_011516457.2:c.73G>A, XM_011516457.1:c.73G>A, XM_024446854.2:c.73G>A, XM_024446854.1:c.73G>A, XM_047420685.1:c.73G>A, NP_005605.1:p.Asp36Asn, XP_011514759.1:p.Asp25Asn, XP_024302622.1:p.Asp25Asn, XP_047276641.1:p.Asp25Asn

Select item 14522201454.

rs1452220145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151471566 (GRCh38)
7:151168652 (GRCh37)
Canonical SPDI:: NC_000007.14:151471565:A:G
Gene:: RHEB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151471566A>G, NC_000007.13:g.151168652A>G, NM_005614.4:c.315T>C, NM_005614.3:c.315T>C, XM_011516457.3:c.282T>C, XM_011516457.2:c.282T>C, XM_011516457.1:c.282T>C, XM_024446854.2:c.282T>C, XM_024446854.1:c.282T>C, XM_047420685.1:c.282T>C

Select item 14448824145.

rs1444882414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151467136 (GRCh38)
7:151164222 (GRCh37)
Canonical SPDI:: NC_000007.14:151467135:A:G
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151467136A>G, NC_000007.13:g.151164222A>G, NM_005614.4:c.538T>C, NM_005614.3:c.538T>C, XM_011516457.3:c.505T>C, XM_011516457.2:c.505T>C, XM_011516457.1:c.505T>C, XM_024446854.2:c.505T>C, XM_024446854.1:c.505T>C, XM_047420685.1:c.505T>C, NP_005605.1:p.Ser180Pro, XP_011514759.1:p.Ser169Pro, XP_024302622.1:p.Ser169Pro, XP_047276641.1:p.Ser169Pro

Select item 14150979646.

rs1415097964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151470644 (GRCh38)
7:151167730 (GRCh37)
Canonical SPDI:: NC_000007.14:151470643:C:G
Gene:: RHEB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151470644C>G, NC_000007.13:g.151167730C>G, NM_005614.4:c.389G>C, NM_005614.3:c.389G>C, XM_011516457.3:c.356G>C, XM_011516457.2:c.356G>C, XM_011516457.1:c.356G>C, XM_024446854.2:c.356G>C, XM_024446854.1:c.356G>C, XM_047420685.1:c.356G>C, NP_005605.1:p.Ser130Thr, XP_011514759.1:p.Ser119Thr, XP_024302622.1:p.Ser119Thr, XP_047276641.1:p.Ser119Thr

Select item 14128557747.

rs1412855774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151471403 (GRCh38)
7:151168489 (GRCh37)
Canonical SPDI:: NC_000007.14:151471402:T:C
Gene:: RHEB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151471403T>C, NC_000007.13:g.151168489T>C, NM_005614.4:c.371A>G, NM_005614.3:c.371A>G, XM_011516457.3:c.338A>G, XM_011516457.2:c.338A>G, XM_011516457.1:c.338A>G, XM_024446854.2:c.338A>G, XM_024446854.1:c.338A>G, XM_047420685.1:c.338A>G, NP_005605.1:p.His124Arg, XP_011514759.1:p.His113Arg, XP_024302622.1:p.His113Arg, XP_047276641.1:p.His113Arg

Select item 14013241138.

rs1401324113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151477340 (GRCh38)
7:151174426 (GRCh37)
Canonical SPDI:: NC_000007.14:151477339:T:C
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.151477340T>C, NC_000007.13:g.151174426T>C, NM_005614.4:c.268A>G, NM_005614.3:c.268A>G, XM_011516457.3:c.235A>G, XM_011516457.2:c.235A>G, XM_011516457.1:c.235A>G, XM_024446854.2:c.235A>G, XM_024446854.1:c.235A>G, XM_047420685.1:c.235A>G, NP_005605.1:p.Ile90Val, XP_011514759.1:p.Ile79Val, XP_024302622.1:p.Ile79Val, XP_047276641.1:p.Ile79Val

Select item 13979798089.

rs1397979808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151477392 (GRCh38)
7:151174478 (GRCh37)
Canonical SPDI:: NC_000007.14:151477391:C:G
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.151477392C>G, NC_000007.13:g.151174478C>G, NM_005614.4:c.216G>C, NM_005614.3:c.216G>C, XM_011516457.3:c.183G>C, XM_011516457.2:c.183G>C, XM_011516457.1:c.183G>C, XM_024446854.2:c.183G>C, XM_024446854.1:c.183G>C, XM_047420685.1:c.183G>C, NP_005605.1:p.Gln72His, XP_011514759.1:p.Gln61His, XP_024302622.1:p.Gln61His, XP_047276641.1:p.Gln61His

Select item 139370649110.

rs1393706491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151490965 (GRCh38)
7:151188051 (GRCh37)
Canonical SPDI:: NC_000007.14:151490964:G:C
Gene:: RHEB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151490965G>C, NC_000007.13:g.151188051G>C, NM_005614.4:c.102C>G, NM_005614.3:c.102C>G, XM_011516457.3:c.69C>G, XM_011516457.2:c.69C>G, XM_011516457.1:c.69C>G, XM_024446854.2:c.69C>G, XM_024446854.1:c.69C>G, XM_047420685.1:c.69C>G

Select item 139365007011.

rs1393650070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151467179 (GRCh38)
7:151164265 (GRCh37)
Canonical SPDI:: NC_000007.14:151467178:C:T
Gene:: RHEB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151467179C>T, NC_000007.13:g.151164265C>T, NM_005614.4:c.495G>A, NM_005614.3:c.495G>A, XM_011516457.3:c.462G>A, XM_011516457.2:c.462G>A, XM_011516457.1:c.462G>A, XM_024446854.2:c.462G>A, XM_024446854.1:c.462G>A, XM_047420685.1:c.462G>A

Select item 136883645512.

rs1368836455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:151470573 (GRCh38)
7:151167659 (GRCh37)
Canonical SPDI:: NC_000007.14:151470572:G:C,NC_000007.14:151470572:G:T
Gene:: RHEB (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)
T=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.151470573G>C, NC_000007.14:g.151470573G>T, NC_000007.13:g.151167659G>C, NC_000007.13:g.151167659G>T, NM_005614.4:c.460C>G, NM_005614.4:c.460C>A, NM_005614.3:c.460C>G, NM_005614.3:c.460C>A, XM_011516457.3:c.427C>G, XM_011516457.3:c.427C>A, XM_011516457.2:c.427C>G, XM_011516457.2:c.427C>A, XM_011516457.1:c.427C>G, XM_011516457.1:c.427C>A, XM_024446854.2:c.427C>G, XM_024446854.2:c.427C>A, XM_024446854.1:c.427C>G, XM_024446854.1:c.427C>A, XM_047420685.1:c.427C>G, XM_047420685.1:c.427C>A, NP_005605.1:p.Gln154Glu, NP_005605.1:p.Gln154Lys, XP_011514759.1:p.Gln143Glu, XP_011514759.1:p.Gln143Lys, XP_024302622.1:p.Gln143Glu, XP_024302622.1:p.Gln143Lys, XP_047276641.1:p.Gln143Glu, XP_047276641.1:p.Gln143Lys

Select item 135603826613.

rs1356038266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151470613 (GRCh38)
7:151167699 (GRCh37)
Canonical SPDI:: NC_000007.14:151470612:A:G
Gene:: RHEB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151470613A>G, NC_000007.13:g.151167699A>G, NM_005614.4:c.420T>C, NM_005614.3:c.420T>C, XM_011516457.3:c.387T>C, XM_011516457.2:c.387T>C, XM_011516457.1:c.387T>C, XM_024446854.2:c.387T>C, XM_024446854.1:c.387T>C, XM_047420685.1:c.387T>C

Select item 134552984914.

rs1345529849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:151484770 (GRCh38)
7:151181856 (GRCh37)
Canonical SPDI:: NC_000007.14:151484769:T:G
Gene:: RHEB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151484770T>G, NC_000007.13:g.151181856T>G, NM_005614.4:c.159A>C, NM_005614.3:c.159A>C, XM_011516457.3:c.126A>C, XM_011516457.2:c.126A>C, XM_011516457.1:c.126A>C, XM_024446854.2:c.126A>C, XM_024446854.1:c.126A>C, XM_047420685.1:c.126A>C, NP_005605.1:p.Glu53Asp, XP_011514759.1:p.Glu42Asp, XP_024302622.1:p.Glu42Asp, XP_047276641.1:p.Glu42Asp

Select item 132730710415.

rs1327307104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151477354 (GRCh38)
7:151174440 (GRCh37)
Canonical SPDI:: NC_000007.14:151477353:T:C
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151477354T>C, NC_000007.13:g.151174440T>C, NM_005614.4:c.254A>G, NM_005614.3:c.254A>G, XM_011516457.3:c.221A>G, XM_011516457.2:c.221A>G, XM_011516457.1:c.221A>G, XM_024446854.2:c.221A>G, XM_024446854.1:c.221A>G, XM_047420685.1:c.221A>G, NP_005605.1:p.Tyr85Cys, XP_011514759.1:p.Tyr74Cys, XP_024302622.1:p.Tyr74Cys, XP_047276641.1:p.Tyr74Cys

Select item 132167598516.

rs1321675985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:151498095 (GRCh38)
7:151195181 (GRCh37)
Canonical SPDI:: NC_000007.14:151498094:T:A
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.151498095T>A, NC_000007.13:g.151195181T>A, XM_011516457.3:c.13A>T, XM_011516457.2:c.13A>T, XM_011516457.1:c.13A>T, XM_024446854.2:c.13A>T, XM_024446854.1:c.13A>T, XM_047420685.1:c.13A>T, XP_011514759.1:p.Asn5Tyr, XP_024302622.1:p.Asn5Tyr, XP_047276641.1:p.Asn5Tyr

Select item 131238370017.

rs1312383700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151467129 (GRCh38)
7:151164215 (GRCh37)
Canonical SPDI:: NC_000007.14:151467128:G:A
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.151467129G>A, NC_000007.13:g.151164215G>A, NM_005614.4:c.545C>T, NM_005614.3:c.545C>T, XM_011516457.3:c.512C>T, XM_011516457.2:c.512C>T, XM_011516457.1:c.512C>T, XM_024446854.2:c.512C>T, XM_024446854.1:c.512C>T, XM_047420685.1:c.512C>T, NP_005605.1:p.Ser182Leu, XP_011514759.1:p.Ser171Leu, XP_024302622.1:p.Ser171Leu, XP_047276641.1:p.Ser171Leu

Select item 129458122018.

rs1294581220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:151477403 (GRCh38)
7:151174489 (GRCh37)
Canonical SPDI:: NC_000007.14:151477402:T:C,NC_000007.14:151477402:T:G
Gene:: RHEB (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.151477403T>C, NC_000007.14:g.151477403T>G, NC_000007.13:g.151174489T>C, NC_000007.13:g.151174489T>G, NM_005614.4:c.205A>G, NM_005614.4:c.205A>C, NM_005614.3:c.205A>G, NM_005614.3:c.205A>C, XM_011516457.3:c.172A>G, XM_011516457.3:c.172A>C, XM_011516457.2:c.172A>G, XM_011516457.2:c.172A>C, XM_011516457.1:c.172A>G, XM_011516457.1:c.172A>C, XM_024446854.2:c.172A>G, XM_024446854.2:c.172A>C, XM_024446854.1:c.172A>G, XM_024446854.1:c.172A>C, XM_047420685.1:c.172A>G, XM_047420685.1:c.172A>C, NP_005605.1:p.Ile69Val, NP_005605.1:p.Ile69Leu, XP_011514759.1:p.Ile58Val, XP_011514759.1:p.Ile58Leu, XP_024302622.1:p.Ile58Val, XP_024302622.1:p.Ile58Leu, XP_047276641.1:p.Ile58Val, XP_047276641.1:p.Ile58Leu

Select item 127804452119.

rs1278044521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151484780 (GRCh38)
7:151181866 (GRCh37)
Canonical SPDI:: NC_000007.14:151484779:T:C
Gene:: RHEB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151484780T>C, NC_000007.13:g.151181866T>C, NM_005614.4:c.149A>G, NM_005614.3:c.149A>G, XM_011516457.3:c.116A>G, XM_011516457.2:c.116A>G, XM_011516457.1:c.116A>G, XM_024446854.2:c.116A>G, XM_024446854.1:c.116A>G, XM_047420685.1:c.116A>G, NP_005605.1:p.Asn50Ser, XP_011514759.1:p.Asn39Ser, XP_024302622.1:p.Asn39Ser, XP_047276641.1:p.Asn39Ser

Select item 125401572420.

rs1254015724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:151467143 (GRCh38)
7:151164229 (GRCh37)
Canonical SPDI:: NC_000007.14:151467142:G:T
Gene:: RHEB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151467143G>T, NC_000007.13:g.151164229G>T, NM_005614.4:c.531C>A, NM_005614.3:c.531C>A, XM_011516457.3:c.498C>A, XM_011516457.2:c.498C>A, XM_011516457.1:c.498C>A, XM_024446854.2:c.498C>A, XM_024446854.1:c.498C>A, XM_047420685.1:c.498C>A

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