SNP Links for Protein (Select 86990441) - SNP

Links from Protein

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Select item 14890962351.

rs1489096235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63908993 (GRCh38)
11:63676465 (GRCh37)
Canonical SPDI:: NC_000011.10:63908992:A:G
Gene:: MARK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000029/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.63908993A>G, NC_000011.9:g.63676465A>G, NG_029771.1:g.75066A>G, NM_004954.5:c.1931A>G, NM_004954.4:c.1931A>G, NM_017490.4:c.1994A>G, NM_017490.3:c.1994A>G, NM_001039469.3:c.2123A>G, NM_001039469.2:c.2123A>G, NM_001163296.2:c.1916A>G, NM_001163296.1:c.1916A>G, NM_001163297.2:c.1886A>G, NM_001163297.1:c.1886A>G, NM_001039468.1:c.1931A>G, NP_004945.4:p.Asn644Ser, NP_059672.2:p.Asn665Ser, NP_001034558.2:p.Asn708Ser, NP_001156768.1:p.Asn639Ser, NP_001156769.1:p.Asn629Ser

Select item 14816698132.

rs1481669813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63899966 (GRCh38)
11:63667438 (GRCh37)
Canonical SPDI:: NC_000011.10:63899965:C:T
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63899966C>T, NC_000011.9:g.63667438C>T, NG_029771.1:g.66039C>T, NM_004954.5:c.624C>T, NM_004954.4:c.624C>T, NM_017490.4:c.525C>T, NM_017490.3:c.525C>T, NM_001039469.3:c.624C>T, NM_001039469.2:c.624C>T, NM_001163296.2:c.624C>T, NM_001163296.1:c.624C>T, NM_001163297.2:c.624C>T, NM_001163297.1:c.624C>T, NM_001039468.1:c.624C>T

Select item 14812508833.

rs1481250883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63898668 (GRCh38)
11:63666140 (GRCh37)
Canonical SPDI:: NC_000011.10:63898667:G:A
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000078/11 (GnomAD)
A=0.000083/22 (TOPMED)
HGVS:: NC_000011.10:g.63898668G>A, NC_000011.9:g.63666140G>A, NG_029771.1:g.64741G>A, NM_004954.5:c.398G>A, NM_004954.4:c.398G>A, NM_017490.4:c.299G>A, NM_017490.3:c.299G>A, NM_001039469.3:c.398G>A, NM_001039469.2:c.398G>A, NM_001163296.2:c.398G>A, NM_001163296.1:c.398G>A, NM_001163297.2:c.398G>A, NM_001163297.1:c.398G>A, NM_001039468.1:c.398G>A, NP_004945.4:p.Ser133Asn, NP_059672.2:p.Ser100Asn, NP_001034558.2:p.Ser133Asn, NP_001156768.1:p.Ser133Asn, NP_001156769.1:p.Ser133Asn

Select item 14809435764.

rs1480943576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63902236 (GRCh38)
11:63669708 (GRCh37)
Canonical SPDI:: NC_000011.10:63902235:A:G
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.63902236A>G, NC_000011.9:g.63669708A>G, NG_029771.1:g.68309A>G, NM_004954.5:c.1140A>G, NM_004954.4:c.1140A>G, NM_017490.4:c.1041A>G, NM_017490.3:c.1041A>G, NM_001039469.3:c.1140A>G, NM_001039469.2:c.1140A>G, NM_001163296.2:c.1140A>G, NM_001163296.1:c.1140A>G, NM_001163297.2:c.1140A>G, NM_001163297.1:c.1140A>G, NM_001039468.1:c.1140A>G

Select item 14809217335.

rs1480921733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:63900014 (GRCh38)
11:63667486 (GRCh37)
Canonical SPDI:: NC_000011.10:63900013:A:T
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63900014A>T, NC_000011.9:g.63667486A>T, NG_029771.1:g.66087A>T, NM_004954.5:c.672A>T, NM_004954.4:c.672A>T, NM_017490.4:c.573A>T, NM_017490.3:c.573A>T, NM_001039469.3:c.672A>T, NM_001039469.2:c.672A>T, NM_001163296.2:c.672A>T, NM_001163296.1:c.672A>T, NM_001163297.2:c.672A>T, NM_001163297.1:c.672A>T, NM_001039468.1:c.672A>T, NP_004945.4:p.Lys224Asn, NP_059672.2:p.Lys191Asn, NP_001034558.2:p.Lys224Asn, NP_001156768.1:p.Lys224Asn, NP_001156769.1:p.Lys224Asn

Select item 14768428666.

rs1476842866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:63900039 (GRCh38)
11:63667511 (GRCh37)
Canonical SPDI:: NC_000011.10:63900038:G:A,NC_000011.10:63900038:G:C
Gene:: MARK2 (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_000011.10:g.63900039G>A, NC_000011.10:g.63900039G>C, NC_000011.9:g.63667511G>A, NC_000011.9:g.63667511G>C, NG_029771.1:g.66112G>A, NG_029771.1:g.66112G>C, NM_004954.5:c.697G>A, NM_004954.5:c.697G>C, NM_004954.4:c.697G>A, NM_004954.4:c.697G>C, NM_017490.4:c.598G>A, NM_017490.4:c.598G>C, NM_017490.3:c.598G>A, NM_017490.3:c.598G>C, NM_001039469.3:c.697G>A, NM_001039469.3:c.697G>C, NM_001039469.2:c.697G>A, NM_001039469.2:c.697G>C, NM_001163296.2:c.697G>A, NM_001163296.2:c.697G>C, NM_001163296.1:c.697G>A, NM_001163296.1:c.697G>C, NM_001163297.2:c.697G>A, NM_001163297.2:c.697G>C, NM_001163297.1:c.697G>A, NM_001163297.1:c.697G>C, NM_001039468.1:c.697G>A, NM_001039468.1:c.697G>C, NP_004945.4:p.Val233Met, NP_004945.4:p.Val233Leu, NP_059672.2:p.Val200Met, NP_059672.2:p.Val200Leu, NP_001034558.2:p.Val233Met, NP_001034558.2:p.Val233Leu, NP_001156768.1:p.Val233Met, NP_001156768.1:p.Val233Leu, NP_001156769.1:p.Val233Met, NP_001156769.1:p.Val233Leu

Select item 14761835547.

rs1476183554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63898660 (GRCh38)
11:63666132 (GRCh37)
Canonical SPDI:: NC_000011.10:63898659:G:A
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63898660G>A, NC_000011.9:g.63666132G>A, NG_029771.1:g.64733G>A, NM_004954.5:c.390G>A, NM_004954.4:c.390G>A, NM_017490.4:c.291G>A, NM_017490.3:c.291G>A, NM_001039469.3:c.390G>A, NM_001039469.2:c.390G>A, NM_001163296.2:c.390G>A, NM_001163296.1:c.390G>A, NM_001163297.2:c.390G>A, NM_001163297.1:c.390G>A, NM_001039468.1:c.390G>A

Select item 14737466058.

rs1473746605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63903996 (GRCh38)
11:63671468 (GRCh37)
Canonical SPDI:: NC_000011.10:63903995:C:T
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63903996C>T, NC_000011.9:g.63671468C>T, NG_029771.1:g.70069C>T, NM_017490.4:c.1423C>T, NM_017490.3:c.1423C>T, NM_001039469.3:c.1525C>T, NM_001039469.2:c.1525C>T, NP_059672.2:p.Pro475Ser, NP_001034558.2:p.Pro509Ser

Select item 14729642669.

rs1472964266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63903089 (GRCh38)
11:63670561 (GRCh37)
Canonical SPDI:: NC_000011.10:63903088:G:A
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.63903089G>A, NC_000011.9:g.63670561G>A, NG_029771.1:g.69162G>A, NM_004954.5:c.1442G>A, NM_004954.4:c.1442G>A, NM_017490.4:c.1343G>A, NM_017490.3:c.1343G>A, NM_001039469.3:c.1445G>A, NM_001039469.2:c.1445G>A, NM_001163296.2:c.1445G>A, NM_001163296.1:c.1445G>A, NM_001163297.2:c.1442G>A, NM_001163297.1:c.1442G>A, NM_001039468.1:c.1442G>A, NP_004945.4:p.Arg481Gln, NP_059672.2:p.Arg448Gln, NP_001034558.2:p.Arg482Gln, NP_001156768.1:p.Arg482Gln, NP_001156769.1:p.Arg481Gln

Select item 146946854210.

rs1469468542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63895249 (GRCh38)
11:63662721 (GRCh37)
Canonical SPDI:: NC_000011.10:63895248:C:T
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63895249C>T, NC_000011.9:g.63662721C>T, NG_029771.1:g.61322C>T, NM_004954.5:c.145C>T, NM_004954.4:c.145C>T, NM_017490.4:c.46C>T, NM_017490.3:c.46C>T, NM_001039469.3:c.145C>T, NM_001039469.2:c.145C>T, NM_001163296.2:c.145C>T, NM_001163296.1:c.145C>T, NM_001163297.2:c.145C>T, NM_001163297.1:c.145C>T, NM_001039468.1:c.145C>T, NP_004945.4:p.His49Tyr, NP_059672.2:p.His16Tyr, NP_001034558.2:p.His49Tyr, NP_001156768.1:p.His49Tyr, NP_001156769.1:p.His49Tyr

Select item 146845009411.

rs1468450094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:63899088 (GRCh38)
11:63666560 (GRCh37)
Canonical SPDI:: NC_000011.10:63899087:A:C,NC_000011.10:63899087:A:G
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63899088A>C, NC_000011.10:g.63899088A>G, NC_000011.9:g.63666560A>C, NC_000011.9:g.63666560A>G, NG_029771.1:g.65161A>C, NG_029771.1:g.65161A>G, NM_004954.5:c.511A>C, NM_004954.5:c.511A>G, NM_004954.4:c.511A>C, NM_004954.4:c.511A>G, NM_017490.4:c.412A>C, NM_017490.4:c.412A>G, NM_017490.3:c.412A>C, NM_017490.3:c.412A>G, NM_001039469.3:c.511A>C, NM_001039469.3:c.511A>G, NM_001039469.2:c.511A>C, NM_001039469.2:c.511A>G, NM_001163296.2:c.511A>C, NM_001163296.2:c.511A>G, NM_001163296.1:c.511A>C, NM_001163296.1:c.511A>G, NM_001163297.2:c.511A>C, NM_001163297.2:c.511A>G, NM_001163297.1:c.511A>C, NM_001163297.1:c.511A>G, NM_001039468.1:c.511A>C, NM_001039468.1:c.511A>G, NP_004945.4:p.Ile171Leu, NP_004945.4:p.Ile171Val, NP_059672.2:p.Ile138Leu, NP_059672.2:p.Ile138Val, NP_001034558.2:p.Ile171Leu, NP_001034558.2:p.Ile171Val, NP_001156768.1:p.Ile171Leu, NP_001156768.1:p.Ile171Val, NP_001156769.1:p.Ile171Leu, NP_001156769.1:p.Ile171Val

Select item 146833292312.

rs1468332923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:63900795 (GRCh38)
11:63668267 (GRCh37)
Canonical SPDI:: NC_000011.10:63900794:C:G,NC_000011.10:63900794:C:T
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63900795C>G, NC_000011.10:g.63900795C>T, NC_000011.9:g.63668267C>G, NC_000011.9:g.63668267C>T, NG_029771.1:g.66868C>G, NG_029771.1:g.66868C>T, NM_004954.5:c.904C>G, NM_004954.5:c.904C>T, NM_004954.4:c.904C>G, NM_004954.4:c.904C>T, NM_017490.4:c.805C>G, NM_017490.4:c.805C>T, NM_017490.3:c.805C>G, NM_017490.3:c.805C>T, NM_001039469.3:c.904C>G, NM_001039469.3:c.904C>T, NM_001039469.2:c.904C>G, NM_001039469.2:c.904C>T, NM_001163296.2:c.904C>G, NM_001163296.2:c.904C>T, NM_001163296.1:c.904C>G, NM_001163296.1:c.904C>T, NM_001163297.2:c.904C>G, NM_001163297.2:c.904C>T, NM_001163297.1:c.904C>G, NM_001163297.1:c.904C>T, NM_001039468.1:c.904C>G, NM_001039468.1:c.904C>T, NP_004945.4:p.Arg302Gly, NP_004945.4:p.Arg302Ter, NP_059672.2:p.Arg269Gly, NP_059672.2:p.Arg269Ter, NP_001034558.2:p.Arg302Gly, NP_001034558.2:p.Arg302Ter, NP_001156768.1:p.Arg302Gly, NP_001156768.1:p.Arg302Ter, NP_001156769.1:p.Arg302Gly, NP_001156769.1:p.Arg302Ter

Select item 146735401913.

rs1467354019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63900863 (GRCh38)
11:63668335 (GRCh37)
Canonical SPDI:: NC_000011.10:63900862:G:A
Gene:: MARK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.63900863G>A, NC_000011.9:g.63668335G>A, NG_029771.1:g.66936G>A, NM_004954.5:c.972G>A, NM_004954.4:c.972G>A, NM_017490.4:c.873G>A, NM_017490.3:c.873G>A, NM_001039469.3:c.972G>A, NM_001039469.2:c.972G>A, NM_001163296.2:c.972G>A, NM_001163296.1:c.972G>A, NM_001163297.2:c.972G>A, NM_001163297.1:c.972G>A, NM_001039468.1:c.972G>A

Select item 146716477714.

rs1467164777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:63904951 (GRCh38)
11:63672423 (GRCh37)
Canonical SPDI:: NC_000011.10:63904950:T:C
Gene:: MARK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.63904951T>C, NC_000011.9:g.63672423T>C, NG_029771.1:g.71024T>C, NM_004954.5:c.1677T>C, NM_004954.4:c.1677T>C, NM_017490.4:c.1740T>C, NM_017490.3:c.1740T>C, NM_001039469.3:c.1842T>C, NM_001039469.2:c.1842T>C, NM_001163296.2:c.1680T>C, NM_001163296.1:c.1680T>C, NM_001163297.2:c.1677T>C, NM_001163297.1:c.1677T>C, NM_001039468.1:c.1677T>C

Select item 146679099815.

rs1466790998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:63909019 (GRCh38)
11:63676491 (GRCh37)
Canonical SPDI:: NC_000011.10:63909018:G:C
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63909019G>C, NC_000011.9:g.63676491G>C, NG_029771.1:g.75092G>C, NM_004954.5:c.1957G>C, NM_004954.4:c.1957G>C, NM_017490.4:c.2020G>C, NM_017490.3:c.2020G>C, NM_001039469.3:c.2149G>C, NM_001039469.2:c.2149G>C, NM_001163296.2:c.1942G>C, NM_001163296.1:c.1942G>C, NM_001163297.2:c.1912G>C, NM_001163297.1:c.1912G>C, NM_001039468.1:c.1957G>C, NP_004945.4:p.Val653Leu, NP_059672.2:p.Val674Leu, NP_001034558.2:p.Val717Leu, NP_001156768.1:p.Val648Leu, NP_001156769.1:p.Val638Leu

Select item 146487271316.

rs1464872713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:63904135 (GRCh38)
11:63671607 (GRCh37)
Canonical SPDI:: NC_000011.10:63904134:T:G
Gene:: MARK2 (Varview)
Functional Consequence:: intron_variant,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_000011.10:g.63904135T>G, NC_000011.9:g.63671607T>G, NG_029771.1:g.70208T>G, NM_017490.4:c.1562T>G, NM_017490.3:c.1562T>G, NM_001039469.3:c.1664T>G, NM_001039469.2:c.1664T>G, NP_059672.2:p.Val521Gly, NP_001034558.2:p.Val555Gly

Select item 146414881217.

rs1464148812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:63904072 (GRCh38)
11:63671544 (GRCh37)
Canonical SPDI:: NC_000011.10:63904071:T:C
Gene:: MARK2 (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 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63904072T>C, NC_000011.9:g.63671544T>C, NG_029771.1:g.70145T>C, NM_017490.4:c.1499T>C, NM_017490.3:c.1499T>C, NM_001039469.3:c.1601T>C, NM_001039469.2:c.1601T>C, NP_059672.2:p.Met500Thr, NP_001034558.2:p.Met534Thr

Select item 146398066918.

rs1463980669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63902614 (GRCh38)
11:63670086 (GRCh37)
Canonical SPDI:: NC_000011.10:63902613:C:T
Gene:: MARK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.63902614C>T, NC_000011.9:g.63670086C>T, NG_029771.1:g.68687C>T, NM_004954.5:c.1245C>T, NM_004954.4:c.1245C>T, NM_017490.4:c.1146C>T, NM_017490.3:c.1146C>T, NM_001039469.3:c.1248C>T, NM_001039469.2:c.1248C>T, NM_001163296.2:c.1248C>T, NM_001163296.1:c.1248C>T, NM_001163297.2:c.1245C>T, NM_001163297.1:c.1245C>T, NM_001039468.1:c.1245C>T

Select item 146302820219.

rs1463028202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:63902726 (GRCh38)
11:63670198 (GRCh37)
Canonical SPDI:: NC_000011.10:63902725:C:A,NC_000011.10:63902725:C:G,NC_000011.10:63902725:C:T
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.63902726C>A, NC_000011.10:g.63902726C>G, NC_000011.10:g.63902726C>T, NC_000011.9:g.63670198C>A, NC_000011.9:g.63670198C>G, NC_000011.9:g.63670198C>T, NG_029771.1:g.68799C>A, NG_029771.1:g.68799C>G, NG_029771.1:g.68799C>T, NM_004954.5:c.1357C>A, NM_004954.5:c.1357C>G, NM_004954.5:c.1357C>T, NM_004954.4:c.1357C>A, NM_004954.4:c.1357C>G, NM_004954.4:c.1357C>T, NM_017490.4:c.1258C>A, NM_017490.4:c.1258C>G, NM_017490.4:c.1258C>T, NM_017490.3:c.1258C>A, NM_017490.3:c.1258C>G, NM_017490.3:c.1258C>T, NM_001039469.3:c.1360C>A, NM_001039469.3:c.1360C>G, NM_001039469.3:c.1360C>T, NM_001039469.2:c.1360C>A, NM_001039469.2:c.1360C>G, NM_001039469.2:c.1360C>T, NM_001163296.2:c.1360C>A, NM_001163296.2:c.1360C>G, NM_001163296.2:c.1360C>T, NM_001163296.1:c.1360C>A, NM_001163296.1:c.1360C>G, NM_001163296.1:c.1360C>T, NM_001163297.2:c.1357C>A, NM_001163297.2:c.1357C>G, NM_001163297.2:c.1357C>T, NM_001163297.1:c.1357C>A, NM_001163297.1:c.1357C>G, NM_001163297.1:c.1357C>T, NM_001039468.1:c.1357C>A, NM_001039468.1:c.1357C>G, NM_001039468.1:c.1357C>T, NP_004945.4:p.Pro453Thr, NP_004945.4:p.Pro453Ala, NP_004945.4:p.Pro453Ser, NP_059672.2:p.Pro420Thr, NP_059672.2:p.Pro420Ala, NP_059672.2:p.Pro420Ser, NP_001034558.2:p.Pro454Thr, NP_001034558.2:p.Pro454Ala, NP_001034558.2:p.Pro454Ser, NP_001156768.1:p.Pro454Thr, NP_001156768.1:p.Pro454Ala, NP_001156768.1:p.Pro454Ser, NP_001156769.1:p.Pro453Thr, NP_001156769.1:p.Pro453Ala, NP_001156769.1:p.Pro453Ser

Select item 146106401720.

rs1461064017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63909187 (GRCh38)
11:63676659 (GRCh37)
Canonical SPDI:: NC_000011.10:63909186:A:G
Gene:: MARK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63909187A>G, NC_000011.9:g.63676659A>G, NG_029771.1:g.75260A>G, NM_004954.5:c.2125A>G, NM_004954.4:c.2125A>G, NM_017490.4:c.2188A>G, NM_017490.3:c.2188A>G, NM_001039469.3:c.2317A>G, NM_001039469.2:c.2317A>G, NM_001163296.2:c.2110A>G, NM_001163296.1:c.2110A>G, NM_001163297.2:c.2080A>G, NM_001163297.1:c.2080A>G, NM_001039468.1:c.2125A>G, NP_004945.4:p.Met709Val, NP_059672.2:p.Met730Val, NP_001034558.2:p.Met773Val, NP_001156768.1:p.Met704Val, NP_001156769.1:p.Met694Val

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