SNP Links for Protein (Select 78214522) - SNP

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Links from Protein

Items: 1 to 20 of 55

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Select item 14882144061.

rs1488214406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74209210 (GRCh38)
17:72205349 (GRCh37)
Canonical SPDI:: NC_000017.11:74209209:G:A
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74209210G>A, NC_000017.10:g.72205349G>A, NM_000999.4:c.88G>A, NM_000999.3:c.88G>A, NM_001035258.2:c.88G>A, NM_001035258.1:c.88G>A, NP_000990.1:p.Asp30Asn, NP_001030335.1:p.Asp30Asn

Select item 14755072582.

rs1475507258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74204163 (GRCh38)
17:72200302 (GRCh37)
Canonical SPDI:: NC_000017.11:74204162:C:T
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74204163C>T, NC_000017.10:g.72200302C>T, NM_000999.4:c.37C>T, NM_000999.3:c.37C>T, NM_001035258.2:c.37C>T, NM_001035258.1:c.37C>T, NP_000990.1:p.Leu13Phe, NP_001030335.1:p.Leu13Phe

Select item 14471136133.

rs1447113613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74209269 (GRCh38)
17:72205408 (GRCh37)
Canonical SPDI:: NC_000017.11:74209268:C:T
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.74209269C>T, NC_000017.10:g.72205408C>T, NM_000999.4:c.147C>T, NM_000999.3:c.147C>T, NM_001035258.2:c.147C>T, NM_001035258.1:c.147C>T

Select item 14179223334.

rs1417922333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:74209230 (GRCh38)
17:72205369 (GRCh37)
Canonical SPDI:: NC_000017.11:74209229:T:A
Gene:: RPL38 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74209230T>A, NC_000017.10:g.72205369T>A, NM_000999.4:c.108T>A, NM_000999.3:c.108T>A, NM_001035258.2:c.108T>A, NM_001035258.1:c.108T>A

Select item 13992424295.

rs1399242429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74209237 (GRCh38)
17:72205376 (GRCh37)
Canonical SPDI:: NC_000017.11:74209236:A:G
Gene:: RPL38 (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_000017.11:g.74209237A>G, NC_000017.10:g.72205376A>G, NM_000999.4:c.115A>G, NM_000999.3:c.115A>G, NM_001035258.2:c.115A>G, NM_001035258.1:c.115A>G, NP_000990.1:p.Ser39Gly, NP_001030335.1:p.Ser39Gly

Select item 13846177116.

rs1384617711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74209817 (GRCh38)
17:72205956 (GRCh37)
Canonical SPDI:: NC_000017.11:74209816:G:A
Gene:: RPL38 (Varview), MGC16275 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.74209817G>A, NC_000017.10:g.72205956G>A, NM_000999.4:c.201G>A, NM_000999.3:c.201G>A, NM_001035258.2:c.201G>A, NM_001035258.1:c.201G>A

Select item 13660773307.

rs1366077330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74209244 (GRCh38)
17:72205383 (GRCh37)
Canonical SPDI:: NC_000017.11:74209243:A:G
Gene:: RPL38 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74209244A>G, NC_000017.10:g.72205383A>G, NM_000999.4:c.122A>G, NM_000999.3:c.122A>G, NM_001035258.2:c.122A>G, NM_001035258.1:c.122A>G, NP_000990.1:p.Tyr41Cys, NP_001030335.1:p.Tyr41Cys

Select item 13573452398.

rs1357345239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74209217 (GRCh38)
17:72205356 (GRCh37)
Canonical SPDI:: NC_000017.11:74209216:T:C
Gene:: RPL38 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.74209217T>C, NC_000017.10:g.72205356T>C, NM_000999.4:c.95T>C, NM_000999.3:c.95T>C, NM_001035258.2:c.95T>C, NM_001035258.1:c.95T>C, NP_000990.1:p.Val32Ala, NP_001030335.1:p.Val32Ala

Select item 13563279599.

rs1356327959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74204135 (GRCh38)
17:72200274 (GRCh37)
Canonical SPDI:: NC_000017.11:74204134:G:A
Gene:: RPL38 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74204135G>A, NC_000017.10:g.72200274G>A, NM_000999.4:c.9G>A, NM_000999.3:c.9G>A, NM_001035258.2:c.9G>A, NM_001035258.1:c.9G>A

Select item 135426564110.

rs1354265641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74209193 (GRCh38)
17:72205332 (GRCh37)
Canonical SPDI:: NC_000017.11:74209192:A:G
Gene:: RPL38 (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_000017.11:g.74209193A>G, NC_000017.10:g.72205332A>G, NM_000999.4:c.71A>G, NM_000999.3:c.71A>G, NM_001035258.2:c.71A>G, NM_001035258.1:c.71A>G, NP_000990.1:p.Lys24Arg, NP_001030335.1:p.Lys24Arg

Select item 134724085911.

rs1347240859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:74209224 (GRCh38)
17:72205363 (GRCh37)
Canonical SPDI:: NC_000017.11:74209223:T:G
Gene:: RPL38 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74209224T>G, NC_000017.10:g.72205363T>G, NM_000999.4:c.102T>G, NM_000999.3:c.102T>G, NM_001035258.2:c.102T>G, NM_001035258.1:c.102T>G, NP_000990.1:p.Phe34Leu, NP_001030335.1:p.Phe34Leu

Select item 133697533912.

rs1336975339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:74209809 (GRCh38)
17:72205948 (GRCh37)
Canonical SPDI:: NC_000017.11:74209808:G:T
Gene:: RPL38 (Varview), MGC16275 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000053/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.74209809G>T, NC_000017.10:g.72205948G>T, NM_000999.4:c.193G>T, NM_000999.3:c.193G>T, NM_001035258.2:c.193G>T, NM_001035258.1:c.193G>T, NP_000990.1:p.Ala65Ser, NP_001030335.1:p.Ala65Ser

Select item 133630878613.

rs1336308786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74209812 (GRCh38)
17:72205951 (GRCh37)
Canonical SPDI:: NC_000017.11:74209811:G:A
Gene:: RPL38 (Varview), MGC16275 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.74209812G>A, NC_000017.10:g.72205951G>A, NM_000999.4:c.196G>A, NM_000999.3:c.196G>A, NM_001035258.2:c.196G>A, NM_001035258.1:c.196G>A, NP_000990.1:p.Val66Met, NP_001030335.1:p.Val66Met

Select item 133476617614.

rs1334766176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:74209808 (GRCh38)
17:72205947 (GRCh37)
Canonical SPDI:: NC_000017.11:74209807:G:C
Gene:: RPL38 (Varview), MGC16275 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.74209808G>C, NC_000017.10:g.72205947G>C, NM_000999.4:c.192G>C, NM_000999.3:c.192G>C, NM_001035258.2:c.192G>C, NM_001035258.1:c.192G>C, NP_000990.1:p.Leu64Phe, NP_001030335.1:p.Leu64Phe

Select item 120391705815.

rs1203917058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74209229 (GRCh38)
17:72205368 (GRCh37)
Canonical SPDI:: NC_000017.11:74209228:T:C
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.74209229T>C, NC_000017.10:g.72205368T>C, NM_000999.4:c.107T>C, NM_000999.3:c.107T>C, NM_001035258.2:c.107T>C, NM_001035258.1:c.107T>C, NP_000990.1:p.Val36Ala, NP_001030335.1:p.Val36Ala

Select item 98967462416.

rs989674624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74209233 (GRCh38)
17:72205372 (GRCh37)
Canonical SPDI:: NC_000017.11:74209232:A:G
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
G=0.005521/93 (TOMMO)
HGVS:: NC_000017.11:g.74209233A>G, NC_000017.10:g.72205372A>G, NM_000999.4:c.111A>G, NM_000999.3:c.111A>G, NM_001035258.2:c.111A>G, NM_001035258.1:c.111A>G

Select item 98286747317.

rs982867473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74209820 (GRCh38)
17:72205959 (GRCh37)
Canonical SPDI:: NC_000017.11:74209819:A:G
Gene:: RPL38 (Varview), MGC16275 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant
HGVS:: NC_000017.11:g.74209820A>G, NC_000017.10:g.72205959A>G, NM_000999.4:c.204A>G, NM_000999.3:c.204A>G, NM_001035258.2:c.204A>G, NM_001035258.1:c.204A>G

Select item 95831316118.

rs958313161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:74209206 (GRCh38)
17:72205345 (GRCh37)
Canonical SPDI:: NC_000017.11:74209205:T:G
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.74209206T>G, NC_000017.10:g.72205345T>G, NM_000999.4:c.84T>G, NM_000999.3:c.84T>G, NM_001035258.2:c.84T>G, NM_001035258.1:c.84T>G, NP_000990.1:p.Asn28Lys, NP_001030335.1:p.Asn28Lys

Select item 94928658819.

rs949286588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:74209216 (GRCh38)
17:72205355 (GRCh37)
Canonical SPDI:: NC_000017.11:74209215:G:A,NC_000017.11:74209215:G:T
Gene:: RPL38 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.74209216G>A, NC_000017.11:g.74209216G>T, NC_000017.10:g.72205355G>A, NC_000017.10:g.72205355G>T, NM_000999.4:c.94G>A, NM_000999.4:c.94G>T, NM_000999.3:c.94G>A, NM_000999.3:c.94G>T, NM_001035258.2:c.94G>A, NM_001035258.2:c.94G>T, NM_001035258.1:c.94G>A, NM_001035258.1:c.94G>T, NP_000990.1:p.Val32Met, NP_000990.1:p.Val32Leu, NP_001030335.1:p.Val32Met, NP_001030335.1:p.Val32Leu

Select item 86655721520.

rs866557215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74209810 (GRCh38)
17:72205949 (GRCh37)
Canonical SPDI:: NC_000017.11:74209809:C:T
Gene:: RPL38 (Varview), MGC16275 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (PAGE_STUDY)
HGVS:: NC_000017.11:g.74209810C>T, NC_000017.10:g.72205949C>T, NM_000999.4:c.194C>T, NM_000999.3:c.194C>T, NM_001035258.2:c.194C>T, NM_001035258.1:c.194C>T, NP_000990.1:p.Ala65Val, NP_001030335.1:p.Ala65Val