SNP Links for Protein (Select 226491502) - SNP

Select item 14904252511.

rs1490425251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:78493067 (GRCh38)
11:78204113 (GRCh37)
Canonical SPDI:: NC_000011.10:78493066:A:C,NC_000011.10:78493066:A:G
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.78493067A>C, NC_000011.10:g.78493067A>G, NC_000011.9:g.78204113A>C, NC_000011.9:g.78204113A>G, NG_042046.1:g.86798T>G, NG_042046.1:g.86798T>C, NM_024678.6:c.818T>G, NM_024678.6:c.818T>C, NM_024678.5:c.818T>G, NM_024678.5:c.818T>C, NM_001243251.2:c.137T>G, NM_001243251.2:c.137T>C, NM_001243251.1:c.137T>G, NM_001243251.1:c.137T>C, XM_011545253.3:c.818T>G, XM_011545253.3:c.818T>C, XM_011545253.2:c.818T>G, XM_011545253.2:c.818T>C, XM_011545253.1:c.818T>G, XM_011545253.1:c.818T>C, XM_017018302.3:c.818T>G, XM_017018302.3:c.818T>C, XM_017018302.2:c.818T>G, XM_017018302.2:c.818T>C, XM_017018302.1:c.818T>G, XM_017018302.1:c.818T>C, XM_047427591.1:c.818T>G, XM_047427591.1:c.818T>C, XM_047427593.1:c.818T>G, XM_047427593.1:c.818T>C, XM_047427592.1:c.818T>G, XM_047427592.1:c.818T>C, NR_027479.1:n.713T>G, NR_027479.1:n.713T>C, XM_047427594.1:c.818T>G, XM_047427594.1:c.818T>C, XM_047427595.1:c.818T>G, XM_047427595.1:c.818T>C, NP_078954.4:p.Met273Arg, NP_078954.4:p.Met273Thr, NP_001230180.1:p.Met46Arg, NP_001230180.1:p.Met46Thr, XP_011543555.1:p.Met273Arg, XP_011543555.1:p.Met273Thr, XP_016873791.1:p.Met273Arg, XP_016873791.1:p.Met273Thr, XP_047283547.1:p.Met273Arg, XP_047283547.1:p.Met273Thr, XP_047283549.1:p.Met273Arg, XP_047283549.1:p.Met273Thr, XP_047283548.1:p.Met273Arg, XP_047283548.1:p.Met273Thr, XP_047283550.1:p.Met273Arg, XP_047283550.1:p.Met273Thr, XP_047283551.1:p.Met273Arg, XP_047283551.1:p.Met273Thr

Select item 14893454322.

rs1489345432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:78566181 (GRCh38)
11:78277227 (GRCh37)
Canonical SPDI:: NC_000011.10:78566180:A:G
Gene:: NARS2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_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_000011.10:g.78566181A>G, NC_000011.9:g.78277227A>G, NG_042046.1:g.13684T>C, NM_024678.6:c.464T>C, NM_024678.5:c.464T>C, NM_001243251.2:c.-218T>C, NM_001243251.1:c.-218T>C, XM_011545253.3:c.464T>C, XM_011545253.2:c.464T>C, XM_011545253.1:c.464T>C, XM_017018302.3:c.464T>C, XM_017018302.2:c.464T>C, XM_017018302.1:c.464T>C, XM_047427591.1:c.464T>C, XM_047427593.1:c.464T>C, XM_047427592.1:c.464T>C, NR_027479.1:n.359T>C, XM_047427594.1:c.464T>C, XM_047427595.1:c.464T>C, NP_078954.4:p.Ile155Thr, XP_011543555.1:p.Ile155Thr, XP_016873791.1:p.Ile155Thr, XP_047283547.1:p.Ile155Thr, XP_047283549.1:p.Ile155Thr, XP_047283548.1:p.Ile155Thr, XP_047283550.1:p.Ile155Thr, XP_047283551.1:p.Ile155Thr

Select item 14873304733.

rs1487330473 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 11:78566245 (GRCh38)
11:78277291 (GRCh37)
Canonical SPDI:: NC_000011.10:78566244:GC:
Gene:: NARS2 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.78566245_78566246del, NC_000011.9:g.78277291_78277292del, NG_042046.1:g.13619_13620del, NM_024678.6:c.399_400del, NM_024678.5:c.399_400del, NM_001243251.2:c.-283_-282del, NM_001243251.1:c.-283_-282del, XM_011545253.3:c.399_400del, XM_011545253.2:c.399_400del, XM_011545253.1:c.399_400del, XM_017018302.3:c.399_400del, XM_017018302.2:c.399_400del, XM_017018302.1:c.399_400del, XM_047427591.1:c.399_400del, XM_047427593.1:c.399_400del, XM_047427592.1:c.399_400del, NR_027479.1:n.294_295del, XM_047427594.1:c.399_400del, XM_047427595.1:c.399_400del, NP_078954.4:p.His134fs, XP_011543555.1:p.His134fs, XP_016873791.1:p.His134fs, XP_047283547.1:p.His134fs, XP_047283549.1:p.His134fs, XP_047283548.1:p.His134fs, XP_047283550.1:p.His134fs, XP_047283551.1:p.His134fs

Select item 14862558214.

rs1486255821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78571416 (GRCh38)
11:78282461 (GRCh37)
Canonical SPDI:: NC_000011.10:78571415:T:C
Gene:: NARS2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78571416T>C, NC_000011.9:g.78282461T>C, NG_042046.1:g.8449A>G, NM_024678.6:c.170A>G, NM_024678.5:c.170A>G, NM_001243251.2:c.-512A>G, NM_001243251.1:c.-512A>G, XM_011545253.3:c.170A>G, XM_011545253.2:c.170A>G, XM_011545253.1:c.170A>G, XM_017018302.3:c.170A>G, XM_017018302.2:c.170A>G, XM_017018302.1:c.170A>G, XM_047427591.1:c.170A>G, XM_047427593.1:c.170A>G, XM_047427592.1:c.170A>G, NR_027479.1:n.65A>G, XM_047427594.1:c.170A>G, XM_047427595.1:c.170A>G, NP_078954.4:p.Lys57Arg, XP_011543555.1:p.Lys57Arg, XP_016873791.1:p.Lys57Arg, XP_047283547.1:p.Lys57Arg, XP_047283549.1:p.Lys57Arg, XP_047283548.1:p.Lys57Arg, XP_047283550.1:p.Lys57Arg, XP_047283551.1:p.Lys57Arg

Select item 14832697515.

rs1483269751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:78571354 (GRCh38)
11:78282399 (GRCh37)
Canonical SPDI:: NC_000011.10:78571353:C:G,NC_000011.10:78571353:C:T
Gene:: NARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.78571354C>G, NC_000011.10:g.78571354C>T, NC_000011.9:g.78282399C>G, NC_000011.9:g.78282399C>T, NG_042046.1:g.8511G>C, NG_042046.1:g.8511G>A, NM_024678.6:c.232G>C, NM_024678.6:c.232G>A, NM_024678.5:c.232G>C, NM_024678.5:c.232G>A, NM_001243251.2:c.-450G>C, NM_001243251.2:c.-450G>A, NM_001243251.1:c.-450G>C, NM_001243251.1:c.-450G>A, XM_011545253.3:c.232G>C, XM_011545253.3:c.232G>A, XM_011545253.2:c.232G>C, XM_011545253.2:c.232G>A, XM_011545253.1:c.232G>C, XM_011545253.1:c.232G>A, XM_017018302.3:c.232G>C, XM_017018302.3:c.232G>A, XM_017018302.2:c.232G>C, XM_017018302.2:c.232G>A, XM_017018302.1:c.232G>C, XM_017018302.1:c.232G>A, XM_047427591.1:c.232G>C, XM_047427591.1:c.232G>A, XM_047427593.1:c.232G>C, XM_047427593.1:c.232G>A, XM_047427592.1:c.232G>C, XM_047427592.1:c.232G>A, NR_027479.1:n.127G>C, NR_027479.1:n.127G>A, XM_047427594.1:c.232G>C, XM_047427594.1:c.232G>A, XM_047427595.1:c.232G>C, XM_047427595.1:c.232G>A, NP_078954.4:p.Asp78His, NP_078954.4:p.Asp78Asn, XP_011543555.1:p.Asp78His, XP_011543555.1:p.Asp78Asn, XP_016873791.1:p.Asp78His, XP_016873791.1:p.Asp78Asn, XP_047283547.1:p.Asp78His, XP_047283547.1:p.Asp78Asn, XP_047283549.1:p.Asp78His, XP_047283549.1:p.Asp78Asn, XP_047283548.1:p.Asp78His, XP_047283548.1:p.Asp78Asn, XP_047283550.1:p.Asp78His, XP_047283550.1:p.Asp78Asn, XP_047283551.1:p.Asp78His, XP_047283551.1:p.Asp78Asn

Select item 14828435366.

rs1482843536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:78465972 (GRCh38)
11:78177018 (GRCh37)
Canonical SPDI:: NC_000011.10:78465971:C:T
Gene:: NARS2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.78465972C>T, NC_000011.9:g.78177018C>T, NG_042046.1:g.113893G>A, NM_024678.6:c.1068G>A, NM_024678.5:c.1068G>A, NM_001243251.2:c.387G>A, NM_001243251.1:c.387G>A, XM_011545253.3:c.1068G>A, XM_011545253.2:c.1068G>A, XM_011545253.1:c.1068G>A, XM_047427591.1:c.1068G>A, XM_047427593.1:c.1068G>A, XM_047427592.1:c.1068G>A, NR_027479.1:n.963G>A

Select item 14819885677.

rs1481988567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:78566248 (GRCh38)
11:78277294 (GRCh37)
Canonical SPDI:: NC_000011.10:78566247:T:G
Gene:: NARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78566248T>G, NC_000011.9:g.78277294T>G, NG_042046.1:g.13617A>C, NM_024678.6:c.397A>C, NM_024678.5:c.397A>C, NM_001243251.2:c.-285A>C, NM_001243251.1:c.-285A>C, XM_011545253.3:c.397A>C, XM_011545253.2:c.397A>C, XM_011545253.1:c.397A>C, XM_017018302.3:c.397A>C, XM_017018302.2:c.397A>C, XM_017018302.1:c.397A>C, XM_047427591.1:c.397A>C, XM_047427593.1:c.397A>C, XM_047427592.1:c.397A>C, NR_027479.1:n.292A>C, XM_047427594.1:c.397A>C, XM_047427595.1:c.397A>C

Select item 14811235538.

rs1481123553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:78436801 (GRCh38)
11:78147847 (GRCh37)
Canonical SPDI:: NC_000011.10:78436800:G:A
Gene:: NARS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78436801G>A, NC_000011.9:g.78147847G>A, NG_042046.1:g.143064C>T, NM_024678.6:c.1303C>T, NM_024678.5:c.1303C>T, NM_001243251.2:c.622C>T, NM_001243251.1:c.622C>T, XM_011545253.3:c.1276C>T, XM_011545253.2:c.1276C>T, XM_011545253.1:c.1276C>T, NR_027479.1:n.1198C>T, NP_078954.4:p.Arg435Cys, NP_001230180.1:p.Arg208Cys, XP_011543555.1:p.Arg426Cys

Select item 14796738189.

rs1479673818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:78478635 (GRCh38)
11:78189681 (GRCh37)
Canonical SPDI:: NC_000011.10:78478634:A:G
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.78478635A>G, NC_000011.9:g.78189681A>G, NG_042046.1:g.101230T>C, NM_024678.6:c.871T>C, NM_024678.5:c.871T>C, NM_001243251.2:c.190T>C, NM_001243251.1:c.190T>C, XM_011545253.3:c.871T>C, XM_011545253.2:c.871T>C, XM_011545253.1:c.871T>C, XM_017018302.3:c.871T>C, XM_017018302.2:c.871T>C, XM_017018302.1:c.871T>C, XM_047427591.1:c.871T>C, XM_047427593.1:c.871T>C, XM_047427592.1:c.871T>C, NR_027479.1:n.766T>C, XM_047427594.1:c.871T>C, XM_047427595.1:c.871T>C, NP_078954.4:p.Cys291Arg, NP_001230180.1:p.Cys64Arg, XP_011543555.1:p.Cys291Arg, XP_016873791.1:p.Cys291Arg, XP_047283547.1:p.Cys291Arg, XP_047283549.1:p.Cys291Arg, XP_047283548.1:p.Cys291Arg, XP_047283550.1:p.Cys291Arg, XP_047283551.1:p.Cys291Arg

Select item 147574147510.

rs1475741475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:78571362 (GRCh38)
11:78282407 (GRCh37)
Canonical SPDI:: NC_000011.10:78571361:A:G
Gene:: NARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.78571362A>G, NC_000011.9:g.78282407A>G, NG_042046.1:g.8503T>C, NM_024678.6:c.224T>C, NM_024678.5:c.224T>C, NM_001243251.2:c.-458T>C, NM_001243251.1:c.-458T>C, XM_011545253.3:c.224T>C, XM_011545253.2:c.224T>C, XM_011545253.1:c.224T>C, XM_017018302.3:c.224T>C, XM_017018302.2:c.224T>C, XM_017018302.1:c.224T>C, XM_047427591.1:c.224T>C, XM_047427593.1:c.224T>C, XM_047427592.1:c.224T>C, NR_027479.1:n.119T>C, XM_047427594.1:c.224T>C, XM_047427595.1:c.224T>C, NP_078954.4:p.Val75Ala, XP_011543555.1:p.Val75Ala, XP_016873791.1:p.Val75Ala, XP_047283547.1:p.Val75Ala, XP_047283549.1:p.Val75Ala, XP_047283548.1:p.Val75Ala, XP_047283550.1:p.Val75Ala, XP_047283551.1:p.Val75Ala

Select item 147430092211.

rs1474300922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78469305 (GRCh38)
11:78180351 (GRCh37)
Canonical SPDI:: NC_000011.10:78469304:T:C
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78469305T>C, NC_000011.9:g.78180351T>C, NG_042046.1:g.110560A>G, NM_024678.6:c.968A>G, NM_024678.5:c.968A>G, NM_001243251.2:c.287A>G, NM_001243251.1:c.287A>G, XM_011545253.3:c.968A>G, XM_011545253.2:c.968A>G, XM_011545253.1:c.968A>G, XM_047427591.1:c.968A>G, XM_047427593.1:c.968A>G, XM_047427592.1:c.968A>G, NR_027479.1:n.863A>G, XM_047427594.1:c.963A>G, XM_047427595.1:c.930A>G, NP_078954.4:p.Tyr323Cys, NP_001230180.1:p.Tyr96Cys, XP_011543555.1:p.Tyr323Cys, XP_047283547.1:p.Tyr323Cys, XP_047283549.1:p.Tyr323Cys, XP_047283548.1:p.Tyr323Cys

Select item 147324642712.

rs1473246427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:78493104 (GRCh38)
11:78204150 (GRCh37)
Canonical SPDI:: NC_000011.10:78493103:C:T
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.78493104C>T, NC_000011.9:g.78204150C>T, NG_042046.1:g.86761G>A, NM_024678.6:c.781G>A, NM_024678.5:c.781G>A, NM_001243251.2:c.100G>A, NM_001243251.1:c.100G>A, XM_011545253.3:c.781G>A, XM_011545253.2:c.781G>A, XM_011545253.1:c.781G>A, XM_017018302.3:c.781G>A, XM_017018302.2:c.781G>A, XM_017018302.1:c.781G>A, XM_047427591.1:c.781G>A, XM_047427593.1:c.781G>A, XM_047427592.1:c.781G>A, NR_027479.1:n.676G>A, XM_047427594.1:c.781G>A, XM_047427595.1:c.781G>A, NP_078954.4:p.Ala261Thr, NP_001230180.1:p.Ala34Thr, XP_011543555.1:p.Ala261Thr, XP_016873791.1:p.Ala261Thr, XP_047283547.1:p.Ala261Thr, XP_047283549.1:p.Ala261Thr, XP_047283548.1:p.Ala261Thr, XP_047283550.1:p.Ala261Thr, XP_047283551.1:p.Ala261Thr

Select item 147214545513.

rs1472145455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78566256 (GRCh38)
11:78277302 (GRCh37)
Canonical SPDI:: NC_000011.10:78566255:T:C
Gene:: NARS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78566256T>C, NC_000011.9:g.78277302T>C, NG_042046.1:g.13609A>G, NM_024678.6:c.389A>G, NM_024678.5:c.389A>G, NM_001243251.2:c.-293A>G, NM_001243251.1:c.-293A>G, XM_011545253.3:c.389A>G, XM_011545253.2:c.389A>G, XM_011545253.1:c.389A>G, XM_017018302.3:c.389A>G, XM_017018302.2:c.389A>G, XM_017018302.1:c.389A>G, XM_047427591.1:c.389A>G, XM_047427593.1:c.389A>G, XM_047427592.1:c.389A>G, NR_027479.1:n.284A>G, XM_047427594.1:c.389A>G, XM_047427595.1:c.389A>G, NP_078954.4:p.Tyr130Cys, XP_011543555.1:p.Tyr130Cys, XP_016873791.1:p.Tyr130Cys, XP_047283547.1:p.Tyr130Cys, XP_047283549.1:p.Tyr130Cys, XP_047283548.1:p.Tyr130Cys, XP_047283550.1:p.Tyr130Cys, XP_047283551.1:p.Tyr130Cys

Select item 147153472314.

rs1471534723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:78493125 (GRCh38)
11:78204171 (GRCh37)
Canonical SPDI:: NC_000011.10:78493124:C:T
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.78493125C>T, NC_000011.9:g.78204171C>T, NG_042046.1:g.86740G>A, NM_024678.6:c.760G>A, NM_024678.5:c.760G>A, NM_001243251.2:c.79G>A, NM_001243251.1:c.79G>A, XM_011545253.3:c.760G>A, XM_011545253.2:c.760G>A, XM_011545253.1:c.760G>A, XM_017018302.3:c.760G>A, XM_017018302.2:c.760G>A, XM_017018302.1:c.760G>A, XM_047427591.1:c.760G>A, XM_047427593.1:c.760G>A, XM_047427592.1:c.760G>A, NR_027479.1:n.655G>A, XM_047427594.1:c.760G>A, XM_047427595.1:c.760G>A, NP_078954.4:p.Ala254Thr, NP_001230180.1:p.Ala27Thr, XP_011543555.1:p.Ala254Thr, XP_016873791.1:p.Ala254Thr, XP_047283547.1:p.Ala254Thr, XP_047283549.1:p.Ala254Thr, XP_047283548.1:p.Ala254Thr, XP_047283550.1:p.Ala254Thr, XP_047283551.1:p.Ala254Thr

Select item 147057230915.

rs1470572309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78478653 (GRCh38)
11:78189699 (GRCh37)
Canonical SPDI:: NC_000011.10:78478652:T:C
Gene:: NARS2 (Varview), LOC105369403 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.78478653T>C, NC_000011.9:g.78189699T>C, NG_042046.1:g.101212A>G, NM_024678.6:c.853A>G, NM_024678.5:c.853A>G, NM_001243251.2:c.172A>G, NM_001243251.1:c.172A>G, XM_011545253.3:c.853A>G, XM_011545253.2:c.853A>G, XM_011545253.1:c.853A>G, XM_017018302.3:c.853A>G, XM_017018302.2:c.853A>G, XM_017018302.1:c.853A>G, XM_047427591.1:c.853A>G, XM_047427593.1:c.853A>G, XM_047427592.1:c.853A>G, NR_027479.1:n.748A>G, XM_047427594.1:c.853A>G, XM_047427595.1:c.853A>G, NP_078954.4:p.Met285Val, NP_001230180.1:p.Met58Val, XP_011543555.1:p.Met285Val, XP_016873791.1:p.Met285Val, XP_047283547.1:p.Met285Val, XP_047283549.1:p.Met285Val, XP_047283548.1:p.Met285Val, XP_047283550.1:p.Met285Val, XP_047283551.1:p.Met285Val

Select item 147050174616.

rs1470501746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:78574376 (GRCh38)
11:78285421 (GRCh37)
Canonical SPDI:: NC_000011.10:78574375:T:A
Gene:: NARS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.78574376T>A, NC_000011.9:g.78285421T>A, NG_042046.1:g.5489A>T, NM_024678.6:c.113A>T, NM_024678.5:c.113A>T, XM_011545253.3:c.113A>T, XM_011545253.2:c.113A>T, XM_011545253.1:c.113A>T, XM_017018302.3:c.113A>T, XM_017018302.2:c.113A>T, XM_017018302.1:c.113A>T, XM_047427591.1:c.113A>T, XM_047427593.1:c.113A>T, XM_047427592.1:c.113A>T, XM_047427594.1:c.113A>T, XM_047427595.1:c.113A>T, NP_078954.4:p.Asn38Ile, XP_011543555.1:p.Asn38Ile, XP_016873791.1:p.Asn38Ile, XP_047283547.1:p.Asn38Ile, XP_047283549.1:p.Asn38Ile, XP_047283548.1:p.Asn38Ile, XP_047283550.1:p.Asn38Ile, XP_047283551.1:p.Asn38Ile

Select item 146972030817.

rs1469720308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:78559562 (GRCh38)
11:78270608 (GRCh37)
Canonical SPDI:: NC_000011.10:78559561:C:T
Gene:: NARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.78559562C>T, NC_000011.9:g.78270608C>T, NG_042046.1:g.20303G>A, NM_024678.6:c.571G>A, NM_024678.5:c.571G>A, NM_001243251.2:c.-111G>A, NM_001243251.1:c.-111G>A, XM_011545253.3:c.571G>A, XM_011545253.2:c.571G>A, XM_011545253.1:c.571G>A, XM_017018302.3:c.571G>A, XM_017018302.2:c.571G>A, XM_017018302.1:c.571G>A, XM_047427591.1:c.571G>A, XM_047427593.1:c.571G>A, XM_047427592.1:c.571G>A, NR_027479.1:n.466G>A, XM_047427594.1:c.571G>A, XM_047427595.1:c.571G>A, NP_078954.4:p.Ala191Thr, XP_011543555.1:p.Ala191Thr, XP_016873791.1:p.Ala191Thr, XP_047283547.1:p.Ala191Thr, XP_047283549.1:p.Ala191Thr, XP_047283548.1:p.Ala191Thr, XP_047283550.1:p.Ala191Thr, XP_047283551.1:p.Ala191Thr

Select item 146878019618.

rs1468780196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:78465995 (GRCh38)
11:78177041 (GRCh37)
Canonical SPDI:: NC_000011.10:78465994:T:C
Gene:: NARS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_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.78465995T>C, NC_000011.9:g.78177041T>C, NG_042046.1:g.113870A>G, NM_024678.6:c.1045A>G, NM_024678.5:c.1045A>G, NM_001243251.2:c.364A>G, NM_001243251.1:c.364A>G, XM_011545253.3:c.1045A>G, XM_011545253.2:c.1045A>G, XM_011545253.1:c.1045A>G, XM_047427591.1:c.1045A>G, XM_047427593.1:c.1045A>G, XM_047427592.1:c.1045A>G, NR_027479.1:n.940A>G, XM_047427594.1:c.*71A>G, NP_078954.4:p.Thr349Ala, NP_001230180.1:p.Thr122Ala, XP_011543555.1:p.Thr349Ala, XP_047283547.1:p.Thr349Ala, XP_047283549.1:p.Thr349Ala, XP_047283548.1:p.Thr349Ala

Select item 146759724519.

rs1467597245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:78566192 (GRCh38)
11:78277238 (GRCh37)
Canonical SPDI:: NC_000011.10:78566191:A:G
Gene:: NARS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_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_000011.10:g.78566192A>G, NC_000011.9:g.78277238A>G, NG_042046.1:g.13673T>C, NM_024678.6:c.453T>C, NM_024678.5:c.453T>C, NM_001243251.2:c.-229T>C, NM_001243251.1:c.-229T>C, XM_011545253.3:c.453T>C, XM_011545253.2:c.453T>C, XM_011545253.1:c.453T>C, XM_017018302.3:c.453T>C, XM_017018302.2:c.453T>C, XM_017018302.1:c.453T>C, XM_047427591.1:c.453T>C, XM_047427593.1:c.453T>C, XM_047427592.1:c.453T>C, NR_027479.1:n.348T>C, XM_047427594.1:c.453T>C, XM_047427595.1:c.453T>C

Select item 146513841220.

rs1465138412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:78571430 (GRCh38)
11:78282475 (GRCh37)
Canonical SPDI:: NC_000011.10:78571429:A:G
Gene:: NARS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.78571430A>G, NC_000011.9:g.78282475A>G, NG_042046.1:g.8435T>C, NM_024678.6:c.156T>C, NM_024678.5:c.156T>C, NM_001243251.2:c.-526T>C, NM_001243251.1:c.-526T>C, XM_011545253.3:c.156T>C, XM_011545253.2:c.156T>C, XM_011545253.1:c.156T>C, XM_017018302.3:c.156T>C, XM_017018302.2:c.156T>C, XM_017018302.1:c.156T>C, XM_047427591.1:c.156T>C, XM_047427593.1:c.156T>C, XM_047427592.1:c.156T>C, NR_027479.1:n.51T>C, XM_047427594.1:c.156T>C, XM_047427595.1:c.156T>C

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 523

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