SNP Links for Protein (Select 52421790) - SNP

Select item 14905982021.

rs1490598202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:70761100 (GRCh38)
14:71227817 (GRCh37)
Canonical SPDI:: NC_000014.9:70761099:C:T
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70761100C>T, NC_000014.8:g.71227817C>T, XM_005267683.6:c.903G>A, XM_005267683.5:c.903G>A, XM_005267683.4:c.903G>A, XM_005267683.3:c.903G>A, XM_005267683.2:c.903G>A, XM_005267683.1:c.903G>A, XM_011536788.4:c.903G>A, XM_011536788.3:c.903G>A, XM_011536788.2:c.903G>A, XM_011536788.1:c.903G>A, NM_033141.4:c.903G>A, NM_033141.3:c.903G>A, NM_033141.2:c.903G>A, NM_001284230.2:c.903G>A, NM_001284230.1:c.903G>A, XM_011536792.1:c.-16G>A, NM_001284231.1:c.114G>A, NM_001284232.1:c.-16G>A, XP_005267740.1:p.Trp301Ter, XP_011535090.1:p.Trp301Ter, NP_149132.2:p.Trp301Ter, NP_001271159.1:p.Trp301Ter, NP_001271160.1:p.Trp38Ter

Select item 14901745882.

rs1490174588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70808875 (GRCh38)
14:71275592 (GRCh37)
Canonical SPDI:: NC_000014.9:70808874:C:G
Gene:: MAP3K9 (Varview), MAP3K9-DT (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_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_000014.9:g.70808875C>G, NC_000014.8:g.71275592C>G, XM_005267683.6:c.297G>C, XM_005267683.5:c.297G>C, XM_005267683.4:c.297G>C, XM_005267683.3:c.297G>C, XM_005267683.2:c.297G>C, XM_005267683.1:c.297G>C, XM_011536788.4:c.297G>C, XM_011536788.3:c.297G>C, XM_011536788.2:c.297G>C, XM_011536788.1:c.297G>C, NM_033141.4:c.297G>C, NM_033141.3:c.297G>C, NM_033141.2:c.297G>C, XR_944005.3:n.92C>G, NM_001284230.2:c.297G>C, NM_001284230.1:c.297G>C, XR_007064240.1:n.92C>G, XR_007064242.1:n.92C>G

Select item 14887263433.

rs1488726343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:70740082 (GRCh38)
14:71206799 (GRCh37)
Canonical SPDI:: NC_000014.9:70740081:A:G
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70740082A>G, NC_000014.8:g.71206799A>G, XM_005267683.6:c.1650T>C, XM_005267683.5:c.1650T>C, XM_005267683.4:c.1650T>C, XM_005267683.3:c.1650T>C, XM_005267683.2:c.1650T>C, XM_005267683.1:c.1650T>C, XM_011536788.4:c.1650T>C, XM_011536788.3:c.1650T>C, XM_011536788.2:c.1650T>C, XM_011536788.1:c.1650T>C, NM_033141.4:c.1650T>C, NM_033141.3:c.1650T>C, NM_033141.2:c.1650T>C, XM_011536794.3:c.564T>C, XM_011536794.2:c.564T>C, XM_011536794.1:c.564T>C, NM_001284230.2:c.1650T>C, NM_001284230.1:c.1650T>C, XM_011536792.1:c.732T>C, NM_001284231.1:c.861T>C, NM_001284232.1:c.732T>C

Select item 14877682654.

rs1487768265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:70809027 (GRCh38)
14:71275744 (GRCh37)
Canonical SPDI:: NC_000014.9:70809026:C:G,NC_000014.9:70809026:C:T
Gene:: MAP3K9 (Varview), MAP3K9-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.70809027C>G, NC_000014.9:g.70809027C>T, NC_000014.8:g.71275744C>G, NC_000014.8:g.71275744C>T, XM_005267683.6:c.145G>C, XM_005267683.6:c.145G>A, XM_005267683.5:c.145G>C, XM_005267683.5:c.145G>A, XM_005267683.4:c.145G>C, XM_005267683.4:c.145G>A, XM_005267683.3:c.145G>C, XM_005267683.3:c.145G>A, XM_005267683.2:c.145G>C, XM_005267683.2:c.145G>A, XM_005267683.1:c.145G>C, XM_005267683.1:c.145G>A, XM_011536788.4:c.145G>C, XM_011536788.4:c.145G>A, XM_011536788.3:c.145G>C, XM_011536788.3:c.145G>A, XM_011536788.2:c.145G>C, XM_011536788.2:c.145G>A, XM_011536788.1:c.145G>C, XM_011536788.1:c.145G>A, NM_033141.4:c.145G>C, NM_033141.4:c.145G>A, NM_033141.3:c.145G>C, NM_033141.3:c.145G>A, NM_033141.2:c.145G>C, NM_033141.2:c.145G>A, XR_944005.3:n.244C>G, XR_944005.3:n.244C>T, NM_001284230.2:c.145G>C, NM_001284230.2:c.145G>A, NM_001284230.1:c.145G>C, NM_001284230.1:c.145G>A, XR_007064240.1:n.244C>G, XR_007064240.1:n.244C>T, XR_007064242.1:n.244C>G, XR_007064242.1:n.244C>T, XP_005267740.1:p.Gly49Arg, XP_005267740.1:p.Gly49Ser, XP_011535090.1:p.Gly49Arg, XP_011535090.1:p.Gly49Ser, NP_149132.2:p.Gly49Arg, NP_149132.2:p.Gly49Ser, NP_001271159.1:p.Gly49Arg, NP_001271159.1:p.Gly49Ser

Select item 14858368485.

rs1485836848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:70748879 (GRCh38)
14:71215596 (GRCh37)
Canonical SPDI:: NC_000014.9:70748878:A:C
Gene:: MAP3K9 (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_000014.9:g.70748879A>C, NC_000014.8:g.71215596A>C, XM_005267683.6:c.1276T>G, XM_005267683.5:c.1276T>G, XM_005267683.4:c.1276T>G, XM_005267683.3:c.1276T>G, XM_005267683.2:c.1276T>G, XM_005267683.1:c.1276T>G, XM_011536788.4:c.1276T>G, XM_011536788.3:c.1276T>G, XM_011536788.2:c.1276T>G, XM_011536788.1:c.1276T>G, NM_033141.4:c.1276T>G, NM_033141.3:c.1276T>G, NM_033141.2:c.1276T>G, XM_011536794.3:c.190T>G, XM_011536794.2:c.190T>G, XM_011536794.1:c.190T>G, NM_001284230.2:c.1276T>G, NM_001284230.1:c.1276T>G, XM_011536792.1:c.358T>G, NM_001284231.1:c.487T>G, NM_001284232.1:c.358T>G, XP_005267740.1:p.Trp426Gly, XP_011535090.1:p.Trp426Gly, NP_149132.2:p.Trp426Gly, XP_011535096.1:p.Trp64Gly, NP_001271159.1:p.Trp426Gly, XP_011535094.1:p.Trp120Gly, NP_001271160.1:p.Trp163Gly, NP_001271161.1:p.Trp120Gly

Select item 14851266066.

rs1485126606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:70738336 (GRCh38)
14:71205053 (GRCh37)
Canonical SPDI:: NC_000014.9:70738335:C:T
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70738336C>T, NC_000014.8:g.71205053C>T, XM_005267683.6:c.1753G>A, XM_005267683.5:c.1753G>A, XM_005267683.4:c.1753G>A, XM_005267683.3:c.1753G>A, XM_005267683.2:c.1753G>A, XM_005267683.1:c.1753G>A, XM_011536788.4:c.1897G>A, XM_011536788.3:c.1897G>A, XM_011536788.2:c.1897G>A, XM_011536788.1:c.1897G>A, NM_033141.4:c.1753G>A, NM_033141.3:c.1753G>A, NM_033141.2:c.1753G>A, XM_011536794.3:c.811G>A, XM_011536794.2:c.811G>A, XM_011536794.1:c.811G>A, NM_001284230.2:c.1753G>A, NM_001284230.1:c.1753G>A, XM_011536792.1:c.979G>A, NM_001284231.1:c.1108G>A, NM_001284232.1:c.979G>A, XP_005267740.1:p.Glu585Lys, XP_011535090.1:p.Glu633Lys, NP_149132.2:p.Glu585Lys, XP_011535096.1:p.Glu271Lys, NP_001271159.1:p.Glu585Lys, XP_011535094.1:p.Glu327Lys, NP_001271160.1:p.Glu370Lys, NP_001271161.1:p.Glu327Lys

Select item 14846788287.

rs1484678828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:70736027 (GRCh38)
14:71202744 (GRCh37)
Canonical SPDI:: NC_000014.9:70736026:G:C
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.70736027G>C, NC_000014.8:g.71202744G>C, XM_011536788.4:c.1991C>G, XM_011536788.3:c.1991C>G, XM_011536788.2:c.1991C>G, XM_011536788.1:c.1991C>G, NM_033141.4:c.1847C>G, NM_033141.3:c.1847C>G, NM_033141.2:c.1847C>G, XM_011536794.3:c.905C>G, XM_011536794.2:c.905C>G, XM_011536794.1:c.905C>G, NM_001284230.2:c.1847C>G, NM_001284230.1:c.1847C>G, XM_011536792.1:c.1073C>G, XP_011535090.1:p.Ser664Cys, NP_149132.2:p.Ser616Cys, XP_011535096.1:p.Ser302Cys, NP_001271159.1:p.Ser616Cys, XP_011535094.1:p.Ser358Cys

Select item 14842893908.

rs1484289390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70730828 (GRCh38)
14:71197545 (GRCh37)
Canonical SPDI:: NC_000014.9:70730827:C:G
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70730828C>G, NC_000014.8:g.71197545C>G, XM_005267683.6:c.2798G>C, XM_005267683.5:c.2798G>C, XM_005267683.4:c.2798G>C, XM_005267683.3:c.2798G>C, XM_005267683.2:c.2798G>C, XM_005267683.1:c.2798G>C, XM_011536788.4:c.3053G>C, XM_011536788.3:c.3053G>C, XM_011536788.2:c.3053G>C, XM_011536788.1:c.3053G>C, NM_033141.4:c.2909G>C, NM_033141.3:c.2909G>C, NM_033141.2:c.2909G>C, XM_011536794.3:c.1967G>C, XM_011536794.2:c.1967G>C, XM_011536794.1:c.1967G>C, NM_001284230.2:c.2867G>C, NM_001284230.1:c.2867G>C, XM_011536792.1:c.2135G>C, NM_001284231.1:c.2195G>C, NM_001284232.1:c.2066G>C, XP_005267740.1:p.Gly933Ala, XP_011535090.1:p.Gly1018Ala, NP_149132.2:p.Gly970Ala, XP_011535096.1:p.Gly656Ala, NP_001271159.1:p.Gly956Ala, XP_011535094.1:p.Gly712Ala, NP_001271160.1:p.Gly732Ala, NP_001271161.1:p.Gly689Ala

Select item 14838681009.

rs1483868100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:70730550 (GRCh38)
14:71197267 (GRCh37)
Canonical SPDI:: NC_000014.9:70730549:G:A
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70730550G>A, NC_000014.8:g.71197267G>A, XM_005267683.6:c.3076C>T, XM_005267683.5:c.3076C>T, XM_005267683.4:c.3076C>T, XM_005267683.3:c.3076C>T, XM_005267683.2:c.3076C>T, XM_005267683.1:c.3076C>T, XM_011536788.4:c.3331C>T, XM_011536788.3:c.3331C>T, XM_011536788.2:c.3331C>T, XM_011536788.1:c.3331C>T, NM_033141.4:c.3187C>T, NM_033141.3:c.3187C>T, NM_033141.2:c.3187C>T, XM_011536794.3:c.2245C>T, XM_011536794.2:c.2245C>T, XM_011536794.1:c.2245C>T, NM_001284230.2:c.3145C>T, NM_001284230.1:c.3145C>T, XM_011536792.1:c.2413C>T, NM_001284231.1:c.2473C>T, NM_001284232.1:c.2344C>T, XP_005267740.1:p.Leu1026Phe, XP_011535090.1:p.Leu1111Phe, NP_149132.2:p.Leu1063Phe, XP_011535096.1:p.Leu749Phe, NP_001271159.1:p.Leu1049Phe, XP_011535094.1:p.Leu805Phe, NP_001271160.1:p.Leu825Phe, NP_001271161.1:p.Leu782Phe

Select item 148385540410.

rs1483855404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:70742588 (GRCh38)
14:71209305 (GRCh37)
Canonical SPDI:: NC_000014.9:70742587:G:A,NC_000014.9:70742587:G:T
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70742588G>A, NC_000014.9:g.70742588G>T, NC_000014.8:g.71209305G>A, NC_000014.8:g.71209305G>T, XM_005267683.6:c.1330C>T, XM_005267683.6:c.1330C>A, XM_005267683.5:c.1330C>T, XM_005267683.5:c.1330C>A, XM_005267683.4:c.1330C>T, XM_005267683.4:c.1330C>A, XM_005267683.3:c.1330C>T, XM_005267683.3:c.1330C>A, XM_005267683.2:c.1330C>T, XM_005267683.2:c.1330C>A, XM_005267683.1:c.1330C>T, XM_005267683.1:c.1330C>A, XM_011536788.4:c.1330C>T, XM_011536788.4:c.1330C>A, XM_011536788.3:c.1330C>T, XM_011536788.3:c.1330C>A, XM_011536788.2:c.1330C>T, XM_011536788.2:c.1330C>A, XM_011536788.1:c.1330C>T, XM_011536788.1:c.1330C>A, NM_033141.4:c.1330C>T, NM_033141.4:c.1330C>A, NM_033141.3:c.1330C>T, NM_033141.3:c.1330C>A, NM_033141.2:c.1330C>T, NM_033141.2:c.1330C>A, XM_011536794.3:c.244C>T, XM_011536794.3:c.244C>A, XM_011536794.2:c.244C>T, XM_011536794.2:c.244C>A, XM_011536794.1:c.244C>T, XM_011536794.1:c.244C>A, NM_001284230.2:c.1330C>T, NM_001284230.2:c.1330C>A, NM_001284230.1:c.1330C>T, NM_001284230.1:c.1330C>A, XM_011536792.1:c.412C>T, XM_011536792.1:c.412C>A, NM_001284231.1:c.541C>T, NM_001284231.1:c.541C>A, NM_001284232.1:c.412C>T, NM_001284232.1:c.412C>A, XP_005267740.1:p.Leu444Phe, XP_005267740.1:p.Leu444Ile, XP_011535090.1:p.Leu444Phe, XP_011535090.1:p.Leu444Ile, NP_149132.2:p.Leu444Phe, NP_149132.2:p.Leu444Ile, XP_011535096.1:p.Leu82Phe, XP_011535096.1:p.Leu82Ile, NP_001271159.1:p.Leu444Phe, NP_001271159.1:p.Leu444Ile, XP_011535094.1:p.Leu138Phe, XP_011535094.1:p.Leu138Ile, NP_001271160.1:p.Leu181Phe, NP_001271160.1:p.Leu181Ile, NP_001271161.1:p.Leu138Phe, NP_001271161.1:p.Leu138Ile

Select item 148321788611.

rs1483217886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:70742522 (GRCh38)
14:71209239 (GRCh37)
Canonical SPDI:: NC_000014.9:70742521:G:A,NC_000014.9:70742521:G:C
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70742522G>A, NC_000014.9:g.70742522G>C, NC_000014.8:g.71209239G>A, NC_000014.8:g.71209239G>C, XM_005267683.6:c.1396C>T, XM_005267683.6:c.1396C>G, XM_005267683.5:c.1396C>T, XM_005267683.5:c.1396C>G, XM_005267683.4:c.1396C>T, XM_005267683.4:c.1396C>G, XM_005267683.3:c.1396C>T, XM_005267683.3:c.1396C>G, XM_005267683.2:c.1396C>T, XM_005267683.2:c.1396C>G, XM_005267683.1:c.1396C>T, XM_005267683.1:c.1396C>G, XM_011536788.4:c.1396C>T, XM_011536788.4:c.1396C>G, XM_011536788.3:c.1396C>T, XM_011536788.3:c.1396C>G, XM_011536788.2:c.1396C>T, XM_011536788.2:c.1396C>G, XM_011536788.1:c.1396C>T, XM_011536788.1:c.1396C>G, NM_033141.4:c.1396C>T, NM_033141.4:c.1396C>G, NM_033141.3:c.1396C>T, NM_033141.3:c.1396C>G, NM_033141.2:c.1396C>T, NM_033141.2:c.1396C>G, XM_011536794.3:c.310C>T, XM_011536794.3:c.310C>G, XM_011536794.2:c.310C>T, XM_011536794.2:c.310C>G, XM_011536794.1:c.310C>T, XM_011536794.1:c.310C>G, NM_001284230.2:c.1396C>T, NM_001284230.2:c.1396C>G, NM_001284230.1:c.1396C>T, NM_001284230.1:c.1396C>G, XM_011536792.1:c.478C>T, XM_011536792.1:c.478C>G, NM_001284231.1:c.607C>T, NM_001284231.1:c.607C>G, NM_001284232.1:c.478C>T, NM_001284232.1:c.478C>G, XP_005267740.1:p.Arg466Trp, XP_005267740.1:p.Arg466Gly, XP_011535090.1:p.Arg466Trp, XP_011535090.1:p.Arg466Gly, NP_149132.2:p.Arg466Trp, NP_149132.2:p.Arg466Gly, XP_011535096.1:p.Arg104Trp, XP_011535096.1:p.Arg104Gly, NP_001271159.1:p.Arg466Trp, NP_001271159.1:p.Arg466Gly, XP_011535094.1:p.Arg160Trp, XP_011535094.1:p.Arg160Gly, NP_001271160.1:p.Arg203Trp, NP_001271160.1:p.Arg203Gly, NP_001271161.1:p.Arg160Trp, NP_001271161.1:p.Arg160Gly

Select item 148297623112.

rs1482976231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:70730852 (GRCh38)
14:71197569 (GRCh37)
Canonical SPDI:: NC_000014.9:70730851:G:C
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.70730852G>C, NC_000014.8:g.71197569G>C, XM_005267683.6:c.2774C>G, XM_005267683.5:c.2774C>G, XM_005267683.4:c.2774C>G, XM_005267683.3:c.2774C>G, XM_005267683.2:c.2774C>G, XM_005267683.1:c.2774C>G, XM_011536788.4:c.3029C>G, XM_011536788.3:c.3029C>G, XM_011536788.2:c.3029C>G, XM_011536788.1:c.3029C>G, NM_033141.4:c.2885C>G, NM_033141.3:c.2885C>G, NM_033141.2:c.2885C>G, XM_011536794.3:c.1943C>G, XM_011536794.2:c.1943C>G, XM_011536794.1:c.1943C>G, NM_001284230.2:c.2843C>G, NM_001284230.1:c.2843C>G, XM_011536792.1:c.2111C>G, NM_001284231.1:c.2171C>G, NM_001284232.1:c.2042C>G, XP_005267740.1:p.Thr925Ser, XP_011535090.1:p.Thr1010Ser, NP_149132.2:p.Thr962Ser, XP_011535096.1:p.Thr648Ser, NP_001271159.1:p.Thr948Ser, XP_011535094.1:p.Thr704Ser, NP_001271160.1:p.Thr724Ser, NP_001271161.1:p.Thr681Ser

Select item 148194537513.

rs1481945375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:70800871 (GRCh38)
14:71267588 (GRCh37)
Canonical SPDI:: NC_000014.9:70800870:G:C
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000014.9:g.70800871G>C, NC_000014.8:g.71267588G>C, XM_005267683.6:c.616C>G, XM_005267683.5:c.616C>G, XM_005267683.4:c.616C>G, XM_005267683.3:c.616C>G, XM_005267683.2:c.616C>G, XM_005267683.1:c.616C>G, XM_011536788.4:c.616C>G, XM_011536788.3:c.616C>G, XM_011536788.2:c.616C>G, XM_011536788.1:c.616C>G, NM_033141.4:c.616C>G, NM_033141.3:c.616C>G, NM_033141.2:c.616C>G, NM_001284230.2:c.616C>G, NM_001284230.1:c.616C>G, XP_005267740.1:p.Leu206Val, XP_011535090.1:p.Leu206Val, NP_149132.2:p.Leu206Val, NP_001271159.1:p.Leu206Val

Select item 148066530814.

rs1480665308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:70748913 (GRCh38)
14:71215630 (GRCh37)
Canonical SPDI:: NC_000014.9:70748912:C:T
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.70748913C>T, NC_000014.8:g.71215630C>T, XM_005267683.6:c.1242G>A, XM_005267683.5:c.1242G>A, XM_005267683.4:c.1242G>A, XM_005267683.3:c.1242G>A, XM_005267683.2:c.1242G>A, XM_005267683.1:c.1242G>A, XM_011536788.4:c.1242G>A, XM_011536788.3:c.1242G>A, XM_011536788.2:c.1242G>A, XM_011536788.1:c.1242G>A, NM_033141.4:c.1242G>A, NM_033141.3:c.1242G>A, NM_033141.2:c.1242G>A, XM_011536794.3:c.156G>A, XM_011536794.2:c.156G>A, XM_011536794.1:c.156G>A, NM_001284230.2:c.1242G>A, NM_001284230.1:c.1242G>A, XM_011536792.1:c.324G>A, NM_001284231.1:c.453G>A, NM_001284232.1:c.324G>A, XP_005267740.1:p.Met414Ile, XP_011535090.1:p.Met414Ile, NP_149132.2:p.Met414Ile, XP_011535096.1:p.Met52Ile, NP_001271159.1:p.Met414Ile, XP_011535094.1:p.Met108Ile, NP_001271160.1:p.Met151Ile, NP_001271161.1:p.Met108Ile

Select item 148042577115.

rs1480425771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:70735993 (GRCh38)
14:71202710 (GRCh37)
Canonical SPDI:: NC_000014.9:70735992:A:G
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000014.9:g.70735993A>G, NC_000014.8:g.71202710A>G, XM_011536788.4:c.2025T>C, XM_011536788.3:c.2025T>C, XM_011536788.2:c.2025T>C, XM_011536788.1:c.2025T>C, NM_033141.4:c.1881T>C, NM_033141.3:c.1881T>C, NM_033141.2:c.1881T>C, XM_011536794.3:c.939T>C, XM_011536794.2:c.939T>C, XM_011536794.1:c.939T>C, NM_001284230.2:c.1881T>C, NM_001284230.1:c.1881T>C, XM_011536792.1:c.1107T>C

Select item 147956452216.

rs1479564522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:70808820 (GRCh38)
14:71275537 (GRCh37)
Canonical SPDI:: NC_000014.9:70808819:A:G
Gene:: MAP3K9 (Varview), MAP3K9-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.70808820A>G, NC_000014.8:g.71275537A>G, XM_005267683.6:c.352T>C, XM_005267683.5:c.352T>C, XM_005267683.4:c.352T>C, XM_005267683.3:c.352T>C, XM_005267683.2:c.352T>C, XM_005267683.1:c.352T>C, XM_011536788.4:c.352T>C, XM_011536788.3:c.352T>C, XM_011536788.2:c.352T>C, XM_011536788.1:c.352T>C, NM_033141.4:c.352T>C, NM_033141.3:c.352T>C, NM_033141.2:c.352T>C, XR_944005.3:n.37A>G, NM_001284230.2:c.352T>C, NM_001284230.1:c.352T>C, XR_007064240.1:n.37A>G, XR_007064242.1:n.37A>G, XP_005267740.1:p.Ser118Pro, XP_011535090.1:p.Ser118Pro, NP_149132.2:p.Ser118Pro, NP_001271159.1:p.Ser118Pro

Select item 147951613417.

rs1479516134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:70732552 (GRCh38)
14:71199269 (GRCh37)
Canonical SPDI:: NC_000014.9:70732551:G:A
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000014.9:g.70732552G>A, NC_000014.8:g.71199269G>A, XM_005267683.6:c.2748C>T, XM_005267683.5:c.2748C>T, XM_005267683.4:c.2748C>T, XM_005267683.3:c.2748C>T, XM_005267683.2:c.2748C>T, XM_005267683.1:c.2748C>T, XM_011536788.4:c.3003C>T, XM_011536788.3:c.3003C>T, XM_011536788.2:c.3003C>T, XM_011536788.1:c.3003C>T, NM_033141.4:c.2859C>T, NM_033141.3:c.2859C>T, NM_033141.2:c.2859C>T, XM_011536794.3:c.1917C>T, XM_011536794.2:c.1917C>T, XM_011536794.1:c.1917C>T, NM_001284230.2:c.2817C>T, NM_001284230.1:c.2817C>T, XM_011536792.1:c.2085C>T, NM_001284231.1:c.2145C>T, NM_001284232.1:c.2016C>T

Select item 147922779218.

rs1479227792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70738245 (GRCh38)
14:71204962 (GRCh37)
Canonical SPDI:: NC_000014.9:70738244:C:G
Gene:: MAP3K9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70738245C>G, NC_000014.8:g.71204962C>G, XM_005267683.6:c.1844G>C, XM_005267683.5:c.1844G>C, XM_005267683.4:c.1844G>C, XM_005267683.3:c.1844G>C, XM_005267683.2:c.1844G>C, XM_005267683.1:c.1844G>C, XM_011536788.4:c.1988G>C, XM_011536788.3:c.1988G>C, XM_011536788.2:c.1988G>C, XM_011536788.1:c.1988G>C, NM_033141.4:c.1844G>C, NM_033141.3:c.1844G>C, NM_033141.2:c.1844G>C, XM_011536794.3:c.902G>C, XM_011536794.2:c.902G>C, XM_011536794.1:c.902G>C, NM_001284230.2:c.1844G>C, NM_001284230.1:c.1844G>C, XM_011536792.1:c.1070G>C, NM_001284231.1:c.1199G>C, NM_001284232.1:c.1070G>C, XP_005267740.1:p.Gly615Ala, XP_011535090.1:p.Gly663Ala, NP_149132.2:p.Gly615Ala, XP_011535096.1:p.Gly301Ala, NP_001271159.1:p.Gly615Ala, XP_011535094.1:p.Gly357Ala, NP_001271160.1:p.Gly400Ala, NP_001271161.1:p.Gly357Ala

Select item 147911881919.

rs1479118819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70809101 (GRCh38)
14:71275818 (GRCh37)
Canonical SPDI:: NC_000014.9:70809100:C:G
Gene:: MAP3K9 (Varview), MAP3K9-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70809101C>G, NC_000014.8:g.71275818C>G, XM_005267683.6:c.71G>C, XM_005267683.5:c.71G>C, XM_005267683.4:c.71G>C, XM_005267683.3:c.71G>C, XM_005267683.2:c.71G>C, XM_005267683.1:c.71G>C, XM_011536788.4:c.71G>C, XM_011536788.3:c.71G>C, XM_011536788.2:c.71G>C, XM_011536788.1:c.71G>C, NM_033141.4:c.71G>C, NM_033141.3:c.71G>C, NM_033141.2:c.71G>C, XR_944005.3:n.318C>G, NM_001284230.2:c.71G>C, NM_001284230.1:c.71G>C, XR_007064240.1:n.318C>G, XR_007064242.1:n.318C>G, XP_005267740.1:p.Gly24Ala, XP_011535090.1:p.Gly24Ala, NP_149132.2:p.Gly24Ala, NP_001271159.1:p.Gly24Ala

Select item 147735881620.

rs1477358816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70732770 (GRCh38)
14:71199487 (GRCh37)
Canonical SPDI:: NC_000014.9:70732769:C:G
Gene:: MAP3K9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70732770C>G, NC_000014.8:g.71199487C>G, XM_005267683.6:c.2530G>C, XM_005267683.5:c.2530G>C, XM_005267683.4:c.2530G>C, XM_005267683.3:c.2530G>C, XM_005267683.2:c.2530G>C, XM_005267683.1:c.2530G>C, XM_011536788.4:c.2785G>C, XM_011536788.3:c.2785G>C, XM_011536788.2:c.2785G>C, XM_011536788.1:c.2785G>C, NM_033141.4:c.2641G>C, NM_033141.3:c.2641G>C, NM_033141.2:c.2641G>C, XM_011536794.3:c.1699G>C, XM_011536794.2:c.1699G>C, XM_011536794.1:c.1699G>C, NM_001284230.2:c.2599G>C, NM_001284230.1:c.2599G>C, XM_011536792.1:c.1867G>C, NM_001284231.1:c.1927G>C, NM_001284232.1:c.1798G>C, XP_005267740.1:p.Val844Leu, XP_011535090.1:p.Val929Leu, NP_149132.2:p.Val881Leu, XP_011535096.1:p.Val567Leu, NP_001271159.1:p.Val867Leu, XP_011535094.1:p.Val623Leu, NP_001271160.1:p.Val643Leu, NP_001271161.1:p.Val600Leu

dbSNP

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dbSNP

Result Filters

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 1154

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