SNP Links for Protein (Select 42542403) - SNP

Links from Protein

Items: 1 to 20 of 710

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Select item 14899777871.

rs1489977787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:171784061 (GRCh38)
1:171753201 (GRCh37)
Canonical SPDI:: NC_000001.11:171784060:A:G,NC_000001.11:171784060:A:T
Gene:: METTL13 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.171784061A>G, NC_000001.11:g.171784061A>T, NC_000001.10:g.171753201A>G, NC_000001.10:g.171753201A>T, NM_015935.5:c.475A>G, NM_015935.5:c.475A>T, NM_015935.4:c.475A>G, NM_015935.4:c.475A>T, NM_014955.3:c.217A>G, NM_014955.3:c.217A>T, NM_014955.2:c.217A>G, NM_014955.2:c.217A>T, NP_057019.3:p.Ile159Val, NP_057019.3:p.Ile159Phe, NP_055770.1:p.Ile73Val, NP_055770.1:p.Ile73Phe

Select item 14896797272.

rs1489679727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171787901 (GRCh38)
1:171757041 (GRCh37)
Canonical SPDI:: NC_000001.11:171787900:C:T
Gene:: METTL13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.171787901C>T, NC_000001.10:g.171757041C>T, NM_015935.5:c.1280C>T, NM_015935.4:c.1280C>T, NM_014955.3:c.1022C>T, NM_014955.2:c.1022C>T, NM_001007239.2:c.812C>T, NM_001007239.1:c.812C>T, NP_057019.3:p.Ala427Val, NP_055770.1:p.Ala341Val, NP_001007240.1:p.Ala271Val

Select item 14882189533.

rs1488218953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:171787860 (GRCh38)
1:171757000 (GRCh37)
Canonical SPDI:: NC_000001.11:171787859:A:G
Gene:: METTL13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171787860A>G, NC_000001.10:g.171757000A>G, NM_015935.5:c.1239A>G, NM_015935.4:c.1239A>G, NM_014955.3:c.981A>G, NM_014955.2:c.981A>G, NM_001007239.2:c.771A>G, NM_001007239.1:c.771A>G

Select item 14862264294.

rs1486226429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:171790552 (GRCh38)
1:171759692 (GRCh37)
Canonical SPDI:: NC_000001.11:171790551:T:C
Gene:: METTL13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.171790552T>C, NC_000001.10:g.171759692T>C, NM_015935.5:c.1410T>C, NM_015935.4:c.1410T>C, NM_014955.3:c.1152T>C, NM_014955.2:c.1152T>C, NM_001007239.2:c.942T>C, NM_001007239.1:c.942T>C

Select item 14861304155.

rs1486130415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:171792109 (GRCh38)
1:171761249 (GRCh37)
Canonical SPDI:: NC_000001.11:171792108:G:A,NC_000001.11:171792108:G:T
Gene:: METTL13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.171792109G>A, NC_000001.11:g.171792109G>T, NC_000001.10:g.171761249G>A, NC_000001.10:g.171761249G>T, NM_015935.5:c.1567G>A, NM_015935.5:c.1567G>T, NM_015935.4:c.1567G>A, NM_015935.4:c.1567G>T, NM_014955.3:c.1309G>A, NM_014955.3:c.1309G>T, NM_014955.2:c.1309G>A, NM_014955.2:c.1309G>T, NM_001007239.2:c.1099G>A, NM_001007239.2:c.1099G>T, NM_001007239.1:c.1099G>A, NM_001007239.1:c.1099G>T, NP_057019.3:p.Val523Met, NP_057019.3:p.Val523Leu, NP_055770.1:p.Val437Met, NP_055770.1:p.Val437Leu, NP_001007240.1:p.Val367Met, NP_001007240.1:p.Val367Leu

Select item 14855436736.

rs1485543673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:171784098 (GRCh38)
1:171753238 (GRCh37)
Canonical SPDI:: NC_000001.11:171784097:T:G
Gene:: METTL13 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.171784098T>G, NC_000001.10:g.171753238T>G, NM_015935.5:c.512T>G, NM_015935.4:c.512T>G, NM_014955.3:c.254T>G, NM_014955.2:c.254T>G, NP_057019.3:p.Val171Gly, NP_055770.1:p.Val85Gly

Select item 14843188297.

rs1484318829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:171794489 (GRCh38)
1:171763629 (GRCh37)
Canonical SPDI:: NC_000001.11:171794488:C:G
Gene:: METTL13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.171794489C>G, NC_000001.10:g.171763629C>G, NG_082241.1:g.784C>G, NM_015935.5:c.1787C>G, NM_015935.4:c.1787C>G, NM_014955.3:c.1529C>G, NM_014955.2:c.1529C>G, NM_001007239.2:c.1319C>G, NM_001007239.1:c.1319C>G, NP_057019.3:p.Ser596Cys, NP_055770.1:p.Ser510Cys, NP_001007240.1:p.Ser440Cys

Select item 14840298328.

rs1484029832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:171785967 (GRCh38)
1:171755107 (GRCh37)
Canonical SPDI:: NC_000001.11:171785966:T:C,NC_000001.11:171785966:T:G
Gene:: METTL13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.171785967T>C, NC_000001.11:g.171785967T>G, NC_000001.10:g.171755107T>C, NC_000001.10:g.171755107T>G, NM_015935.5:c.1002T>C, NM_015935.5:c.1002T>G, NM_015935.4:c.1002T>C, NM_015935.4:c.1002T>G, NM_014955.3:c.744T>C, NM_014955.3:c.744T>G, NM_014955.2:c.744T>C, NM_014955.2:c.744T>G, NM_001007239.2:c.534T>C, NM_001007239.2:c.534T>G, NM_001007239.1:c.534T>C, NM_001007239.1:c.534T>G, NP_057019.3:p.Ile334Met, NP_055770.1:p.Ile248Met, NP_001007240.1:p.Ile178Met

Select item 14810544979.

rs1481054497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:171787788 (GRCh38)
1:171756928 (GRCh37)
Canonical SPDI:: NC_000001.11:171787787:A:C,NC_000001.11:171787787:A:G
Gene:: METTL13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.171787788A>C, NC_000001.11:g.171787788A>G, NC_000001.10:g.171756928A>C, NC_000001.10:g.171756928A>G, NM_015935.5:c.1167A>C, NM_015935.5:c.1167A>G, NM_015935.4:c.1167A>C, NM_015935.4:c.1167A>G, NM_014955.3:c.909A>C, NM_014955.3:c.909A>G, NM_014955.2:c.909A>C, NM_014955.2:c.909A>G, NM_001007239.2:c.699A>C, NM_001007239.2:c.699A>G, NM_001007239.1:c.699A>C, NM_001007239.1:c.699A>G, NP_057019.3:p.Gln389His, NP_055770.1:p.Gln303His, NP_001007240.1:p.Gln233His

Select item 148065191410.

rs1480651914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:171784083 (GRCh38)
1:171753223 (GRCh37)
Canonical SPDI:: NC_000001.11:171784082:T:C
Gene:: METTL13 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.171784083T>C, NC_000001.10:g.171753223T>C, NM_015935.5:c.497T>C, NM_015935.4:c.497T>C, NM_014955.3:c.239T>C, NM_014955.2:c.239T>C, NP_057019.3:p.Ile166Thr, NP_055770.1:p.Ile80Thr

Select item 148051705911.

rs1480517059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:171784296 (GRCh38)
1:171753436 (GRCh37)
Canonical SPDI:: NC_000001.11:171784295:A:C
Gene:: METTL13 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.171784296A>C, NC_000001.10:g.171753436A>C, NM_015935.5:c.710A>C, NM_015935.4:c.710A>C, NM_014955.3:c.452A>C, NM_014955.2:c.452A>C, NP_057019.3:p.Glu237Ala, NP_055770.1:p.Glu151Ala

Select item 147963480612.

rs1479634806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:171782053 (GRCh38)
1:171751193 (GRCh37)
Canonical SPDI:: NC_000001.11:171782052:T:C
Gene:: METTL13 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.171782053T>C, NC_000001.10:g.171751193T>C, NM_015935.5:c.86T>C, NM_015935.4:c.86T>C, NM_001007239.2:c.86T>C, NM_001007239.1:c.86T>C, NP_057019.3:p.Phe29Ser, NP_001007240.1:p.Phe29Ser

Select item 147675016713.

rs1476750167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171790576 (GRCh38)
1:171759716 (GRCh37)
Canonical SPDI:: NC_000001.11:171790575:C:T
Gene:: METTL13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.171790576C>T, NC_000001.10:g.171759716C>T, NM_015935.5:c.1434C>T, NM_015935.4:c.1434C>T, NM_014955.3:c.1176C>T, NM_014955.2:c.1176C>T, NM_001007239.2:c.966C>T, NM_001007239.1:c.966C>T

Select item 147338501614.

rs1473385016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171783835 (GRCh38)
1:171752975 (GRCh37)
Canonical SPDI:: NC_000001.11:171783834:C:T
Gene:: METTL13 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171783835C>T, NC_000001.10:g.171752975C>T, NM_015935.5:c.249C>T, NM_015935.4:c.249C>T, NM_014955.3:c.-10C>T, NM_014955.2:c.-10C>T, NM_001007239.2:c.249C>T, NM_001007239.1:c.249C>T

Select item 147304360415.

rs1473043604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171784294 (GRCh38)
1:171753434 (GRCh37)
Canonical SPDI:: NC_000001.11:171784293:G:A
Gene:: METTL13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171784294G>A, NC_000001.10:g.171753434G>A, NM_015935.5:c.708G>A, NM_015935.4:c.708G>A, NM_014955.3:c.450G>A, NM_014955.2:c.450G>A

Select item 147189293016.

rs1471892930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171792054 (GRCh38)
1:171761194 (GRCh37)
Canonical SPDI:: NC_000001.11:171792053:G:A
Gene:: METTL13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171792054G>A, NC_000001.10:g.171761194G>A, NM_015935.5:c.1512G>A, NM_015935.4:c.1512G>A, NM_014955.3:c.1254G>A, NM_014955.2:c.1254G>A, NM_001007239.2:c.1044G>A, NM_001007239.1:c.1044G>A

Select item 146977809417.

rs1469778094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:171792034 (GRCh38)
1:171761174 (GRCh37)
Canonical SPDI:: NC_000001.11:171792033:T:G
Gene:: METTL13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171792034T>G, NC_000001.10:g.171761174T>G, NM_015935.5:c.1492T>G, NM_015935.4:c.1492T>G, NM_014955.3:c.1234T>G, NM_014955.2:c.1234T>G, NM_001007239.2:c.1024T>G, NM_001007239.1:c.1024T>G, NP_057019.3:p.Leu498Val, NP_055770.1:p.Leu412Val, NP_001007240.1:p.Leu342Val

Select item 146944022718.

rs1469440227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:171782078 (GRCh38)
1:171751218 (GRCh37)
Canonical SPDI:: NC_000001.11:171782077:A:G
Gene:: METTL13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.171782078A>G, NC_000001.10:g.171751218A>G, NM_015935.5:c.111A>G, NM_015935.4:c.111A>G, NM_001007239.2:c.111A>G, NM_001007239.1:c.111A>G

Select item 146722138819.

rs1467221388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:171794437 (GRCh38)
1:171763577 (GRCh37)
Canonical SPDI:: NC_000001.11:171794436:A:G
Gene:: METTL13 (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_000001.11:g.171794437A>G, NC_000001.10:g.171763577A>G, NG_082241.1:g.732A>G, NM_015935.5:c.1735A>G, NM_015935.4:c.1735A>G, NM_014955.3:c.1477A>G, NM_014955.2:c.1477A>G, NM_001007239.2:c.1267A>G, NM_001007239.1:c.1267A>G, NP_057019.3:p.Lys579Glu, NP_055770.1:p.Lys493Glu, NP_001007240.1:p.Lys423Glu

Select item 146530028520.

rs1465300285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:171786046 (GRCh38)
1:171755186 (GRCh37)
Canonical SPDI:: NC_000001.11:171786045:C:G
Gene:: METTL13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.171786046C>G, NC_000001.10:g.171755186C>G, NM_015935.5:c.1081C>G, NM_015935.4:c.1081C>G, NM_014955.3:c.823C>G, NM_014955.2:c.823C>G, NM_001007239.2:c.613C>G, NM_001007239.1:c.613C>G, NP_057019.3:p.Leu361Val, NP_055770.1:p.Leu275Val, NP_001007240.1:p.Leu205Val

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