SNP Links for Protein (Select 19526767) - SNP

Select item 14865466581.

rs1486546658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:173217138 (GRCh38)
2:174081866 (GRCh37)
Canonical SPDI:: NC_000002.12:173217137:A:G,NC_000002.12:173217137:A:T
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.173217138A>G, NC_000002.12:g.173217138A>T, NC_000002.11:g.174081866A>G, NC_000002.11:g.174081866A>T, NG_029373.1:g.146302A>G, NG_029373.1:g.146302A>T, NM_133646.3:c.875A>G, NM_133646.3:c.875A>T, NM_133646.2:c.875A>G, NM_133646.2:c.875A>T, NM_016653.3:c.875A>G, NM_016653.3:c.875A>T, NM_016653.2:c.875A>G, NM_016653.2:c.875A>T, XM_005246640.3:c.875A>G, XM_005246640.3:c.875A>T, XM_005246640.2:c.875A>G, XM_005246640.2:c.875A>T, XM_005246640.1:c.875A>G, XM_005246640.1:c.875A>T, XM_017004324.2:c.875A>G, XM_017004324.2:c.875A>T, XM_017004324.1:c.875A>G, XM_017004324.1:c.875A>T, XM_017004323.2:c.875A>G, XM_017004323.2:c.875A>T, XM_017004323.1:c.875A>G, XM_017004323.1:c.875A>T, XM_047444748.1:c.875A>G, XM_047444748.1:c.875A>T, XM_047444747.1:c.875A>G, XM_047444747.1:c.875A>T, XM_047444746.1:c.875A>G, XM_047444746.1:c.875A>T, NP_598407.1:p.Glu292Gly, NP_598407.1:p.Glu292Val, NP_057737.2:p.Glu292Gly, NP_057737.2:p.Glu292Val, XP_005246697.1:p.Glu292Gly, XP_005246697.1:p.Glu292Val, XP_016859813.1:p.Glu292Gly, XP_016859813.1:p.Glu292Val, XP_016859812.1:p.Glu292Gly, XP_016859812.1:p.Glu292Val, XP_047300704.1:p.Glu292Gly, XP_047300704.1:p.Glu292Val, XP_047300703.1:p.Glu292Gly, XP_047300703.1:p.Glu292Val, XP_047300702.1:p.Glu292Gly, XP_047300702.1:p.Glu292Val

Select item 14853027962.

rs1485302796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:173221340 (GRCh38)
2:174086068 (GRCh37)
Canonical SPDI:: NC_000002.12:173221339:G:C
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.173221340G>C, NC_000002.11:g.174086068G>C, NG_029373.1:g.150504G>C, NM_133646.3:c.1178G>C, NM_133646.2:c.1178G>C, XM_017004324.2:c.1178G>C, XM_017004324.1:c.1178G>C, XM_017004323.2:c.1178G>C, XM_017004323.1:c.1178G>C, XM_047444748.1:c.1178G>C, NP_598407.1:p.Gly393Ala, XP_016859813.1:p.Gly393Ala, XP_016859812.1:p.Gly393Ala, XP_047300704.1:p.Gly393Ala

Select item 14833749523.

rs1483374952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:173217249 (GRCh38)
2:174081977 (GRCh37)
Canonical SPDI:: NC_000002.12:173217248:C:T
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.173217249C>T, NC_000002.11:g.174081977C>T, NG_029373.1:g.146413C>T, NM_133646.3:c.986C>T, NM_133646.2:c.986C>T, NM_016653.3:c.986C>T, NM_016653.2:c.986C>T, XM_005246640.3:c.986C>T, XM_005246640.2:c.986C>T, XM_005246640.1:c.986C>T, XM_017004324.2:c.986C>T, XM_017004324.1:c.986C>T, XM_017004323.2:c.986C>T, XM_017004323.1:c.986C>T, XM_047444748.1:c.986C>T, XM_047444747.1:c.986C>T, XM_047444746.1:c.986C>T, NP_598407.1:p.Pro329Leu, NP_057737.2:p.Pro329Leu, XP_005246697.1:p.Pro329Leu, XP_016859813.1:p.Pro329Leu, XP_016859812.1:p.Pro329Leu, XP_047300704.1:p.Pro329Leu, XP_047300703.1:p.Pro329Leu, XP_047300702.1:p.Pro329Leu

Select item 14826145694.

rs1482614569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:173169831 (GRCh38)
2:174034559 (GRCh37)
Canonical SPDI:: NC_000002.12:173169830:C:T
Gene:: MAP3K20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.173169831C>T, NC_000002.11:g.174034559C>T, NG_029373.1:g.98995C>T, NM_133646.3:c.186C>T, NM_133646.2:c.186C>T, NM_016653.3:c.186C>T, NM_016653.2:c.186C>T, XM_005246640.3:c.186C>T, XM_005246640.2:c.186C>T, XM_005246640.1:c.186C>T, XM_017004324.2:c.186C>T, XM_017004324.1:c.186C>T, XM_017004323.2:c.186C>T, XM_017004323.1:c.186C>T, XM_047444748.1:c.186C>T, XM_047444747.1:c.186C>T, XM_047444746.1:c.186C>T

Select item 14822994355.

rs1482299435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:173187564 (GRCh38)
2:174052292 (GRCh37)
Canonical SPDI:: NC_000002.12:173187563:A:G
Gene:: MAP3K20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.173187564A>G, NC_000002.11:g.174052292A>G, NG_029373.1:g.116728A>G, NM_133646.3:c.356A>G, NM_133646.2:c.356A>G, NM_016653.3:c.356A>G, NM_016653.2:c.356A>G, XM_005246640.3:c.356A>G, XM_005246640.2:c.356A>G, XM_005246640.1:c.356A>G, XM_017004324.2:c.356A>G, XM_017004324.1:c.356A>G, XM_017004323.2:c.356A>G, XM_017004323.1:c.356A>G, XM_047444748.1:c.356A>G, XM_047444747.1:c.356A>G, XM_047444746.1:c.356A>G, NP_598407.1:p.His119Arg, NP_057737.2:p.His119Arg, XP_005246697.1:p.His119Arg, XP_016859813.1:p.His119Arg, XP_016859812.1:p.His119Arg, XP_047300704.1:p.His119Arg, XP_047300703.1:p.His119Arg, XP_047300702.1:p.His119Arg

Select item 14802033516.

rs1480203351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:173221271 (GRCh38)
2:174085999 (GRCh37)
Canonical SPDI:: NC_000002.12:173221270:G:A
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.173221271G>A, NC_000002.11:g.174085999G>A, NG_029373.1:g.150435G>A, NM_133646.3:c.1109G>A, NM_133646.2:c.1109G>A, XM_017004324.2:c.1109G>A, XM_017004324.1:c.1109G>A, XM_017004323.2:c.1109G>A, XM_017004323.1:c.1109G>A, XM_047444748.1:c.1109G>A, NP_598407.1:p.Gly370Asp, XP_016859813.1:p.Gly370Asp, XP_016859812.1:p.Gly370Asp, XP_047300704.1:p.Gly370Asp

Select item 14790654507.

rs1479065450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:173209799 (GRCh38)
2:174074527 (GRCh37)
Canonical SPDI:: NC_000002.12:173209798:A:C
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.173209799A>C, NC_000002.11:g.174074527A>C, NG_029373.1:g.138963A>C, NM_133646.3:c.815A>C, NM_133646.2:c.815A>C, NM_016653.3:c.815A>C, NM_016653.2:c.815A>C, XM_005246640.3:c.815A>C, XM_005246640.2:c.815A>C, XM_005246640.1:c.815A>C, XM_017004324.2:c.815A>C, XM_017004324.1:c.815A>C, XM_017004323.2:c.815A>C, XM_017004323.1:c.815A>C, XM_047444748.1:c.815A>C, XM_047444747.1:c.815A>C, XM_047444746.1:c.815A>C, NR_033882.1:n.1161T>G, NP_598407.1:p.Lys272Thr, NP_057737.2:p.Lys272Thr, XP_005246697.1:p.Lys272Thr, XP_016859813.1:p.Lys272Thr, XP_016859812.1:p.Lys272Thr, XP_047300704.1:p.Lys272Thr, XP_047300703.1:p.Lys272Thr, XP_047300702.1:p.Lys272Thr

Select item 14754265768.

rs1475426576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:173221430 (GRCh38)
2:174086158 (GRCh37)
Canonical SPDI:: NC_000002.12:173221429:A:G
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.173221430A>G, NC_000002.11:g.174086158A>G, NG_029373.1:g.150594A>G, NM_133646.3:c.1268A>G, NM_133646.2:c.1268A>G, XM_017004324.2:c.1268A>G, XM_017004324.1:c.1268A>G, XM_017004323.2:c.1268A>G, XM_017004323.1:c.1268A>G, XM_047444748.1:c.1268A>G, NP_598407.1:p.Asn423Ser, XP_016859813.1:p.Asn423Ser, XP_016859812.1:p.Asn423Ser, XP_047300704.1:p.Asn423Ser

Select item 14718301749.

rs1471830174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:173198051 (GRCh38)
2:174062779 (GRCh37)
Canonical SPDI:: NC_000002.12:173198050:A:C
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000002.12:g.173198051A>C, NC_000002.11:g.174062779A>C, NG_029373.1:g.127215A>C, NM_133646.3:c.608A>C, NM_133646.2:c.608A>C, NM_016653.3:c.608A>C, NM_016653.2:c.608A>C, XM_005246640.3:c.608A>C, XM_005246640.2:c.608A>C, XM_005246640.1:c.608A>C, XM_017004324.2:c.608A>C, XM_017004324.1:c.608A>C, XM_017004323.2:c.608A>C, XM_017004323.1:c.608A>C, XM_047444748.1:c.608A>C, XM_047444747.1:c.608A>C, XM_047444746.1:c.608A>C, NR_033882.1:n.2199T>G, NP_598407.1:p.Glu203Ala, NP_057737.2:p.Glu203Ala, XP_005246697.1:p.Glu203Ala, XP_016859813.1:p.Glu203Ala, XP_016859812.1:p.Glu203Ala, XP_047300704.1:p.Glu203Ala, XP_047300703.1:p.Glu203Ala, XP_047300702.1:p.Glu203Ala

Select item 146973352310.

rs1469733523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:173209744 (GRCh38)
2:174074472 (GRCh37)
Canonical SPDI:: NC_000002.12:173209743:A:C
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.173209744A>C, NC_000002.11:g.174074472A>C, NG_029373.1:g.138908A>C, NM_133646.3:c.760A>C, NM_133646.2:c.760A>C, NM_016653.3:c.760A>C, NM_016653.2:c.760A>C, XM_005246640.3:c.760A>C, XM_005246640.2:c.760A>C, XM_005246640.1:c.760A>C, XM_017004324.2:c.760A>C, XM_017004324.1:c.760A>C, XM_017004323.2:c.760A>C, XM_017004323.1:c.760A>C, XM_047444748.1:c.760A>C, XM_047444747.1:c.760A>C, XM_047444746.1:c.760A>C, NR_033882.1:n.1216T>G, NP_598407.1:p.Lys254Gln, NP_057737.2:p.Lys254Gln, XP_005246697.1:p.Lys254Gln, XP_016859813.1:p.Lys254Gln, XP_016859812.1:p.Lys254Gln, XP_047300704.1:p.Lys254Gln, XP_047300703.1:p.Lys254Gln, XP_047300702.1:p.Lys254Gln

Select item 146868464011.

rs1468684640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:173221416 (GRCh38)
2:174086144 (GRCh37)
Canonical SPDI:: NC_000002.12:173221415:G:A,NC_000002.12:173221415:G:T
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.173221416G>A, NC_000002.12:g.173221416G>T, NC_000002.11:g.174086144G>A, NC_000002.11:g.174086144G>T, NG_029373.1:g.150580G>A, NG_029373.1:g.150580G>T, NM_133646.3:c.1254G>A, NM_133646.3:c.1254G>T, NM_133646.2:c.1254G>A, NM_133646.2:c.1254G>T, XM_017004324.2:c.1254G>A, XM_017004324.2:c.1254G>T, XM_017004324.1:c.1254G>A, XM_017004324.1:c.1254G>T, XM_017004323.2:c.1254G>A, XM_017004323.2:c.1254G>T, XM_017004323.1:c.1254G>A, XM_017004323.1:c.1254G>T, XM_047444748.1:c.1254G>A, XM_047444748.1:c.1254G>T, NP_598407.1:p.Arg418Ser, XP_016859813.1:p.Arg418Ser, XP_016859812.1:p.Arg418Ser, XP_047300704.1:p.Arg418Ser

Select item 146616222112.

rs1466162221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:173182947 (GRCh38)
2:174047675 (GRCh37)
Canonical SPDI:: NC_000002.12:173182946:T:C
Gene:: MAP3K20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.173182947T>C, NC_000002.11:g.174047675T>C, NG_029373.1:g.112111T>C, NM_133646.3:c.341T>C, NM_133646.2:c.341T>C, NM_016653.3:c.341T>C, NM_016653.2:c.341T>C, XM_005246640.3:c.341T>C, XM_005246640.2:c.341T>C, XM_005246640.1:c.341T>C, XM_017004324.2:c.341T>C, XM_017004324.1:c.341T>C, XM_017004323.2:c.341T>C, XM_017004323.1:c.341T>C, XM_047444748.1:c.341T>C, XM_047444747.1:c.341T>C, XM_047444746.1:c.341T>C, NP_598407.1:p.Val114Ala, NP_057737.2:p.Val114Ala, XP_005246697.1:p.Val114Ala, XP_016859813.1:p.Val114Ala, XP_016859812.1:p.Val114Ala, XP_047300704.1:p.Val114Ala, XP_047300703.1:p.Val114Ala, XP_047300702.1:p.Val114Ala

Select item 146271190713.

rs1462711907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:173091184 (GRCh38)
2:173955912 (GRCh37)
Canonical SPDI:: NC_000002.12:173091183:G:C
Gene:: MAP3K20 (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_000002.12:g.173091184G>C, NC_000002.11:g.173955912G>C, NG_029373.1:g.20348G>C, NM_133646.3:c.153G>C, NM_133646.2:c.153G>C, NM_016653.3:c.153G>C, NM_016653.2:c.153G>C, XM_005246640.3:c.153G>C, XM_005246640.2:c.153G>C, XM_005246640.1:c.153G>C, XM_017004324.2:c.153G>C, XM_017004324.1:c.153G>C, XM_017004323.2:c.153G>C, XM_017004323.1:c.153G>C, XM_047444748.1:c.153G>C, XM_047444747.1:c.153G>C, XM_047444746.1:c.153G>C, NP_598407.1:p.Glu51Asp, NP_057737.2:p.Glu51Asp, XP_005246697.1:p.Glu51Asp, XP_016859813.1:p.Glu51Asp, XP_016859812.1:p.Glu51Asp, XP_047300704.1:p.Glu51Asp, XP_047300703.1:p.Glu51Asp, XP_047300702.1:p.Glu51Asp

Select item 146135359314.

rs1461353593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:173203798 (GRCh38)
2:174068526 (GRCh37)
Canonical SPDI:: NC_000002.12:173203797:A:T
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.173203798A>T, NC_000002.11:g.174068526A>T, NG_029373.1:g.132962A>T, NM_133646.3:c.672A>T, NM_133646.2:c.672A>T, NM_016653.3:c.672A>T, NM_016653.2:c.672A>T, XM_005246640.3:c.672A>T, XM_005246640.2:c.672A>T, XM_005246640.1:c.672A>T, XM_017004324.2:c.672A>T, XM_017004324.1:c.672A>T, XM_017004323.2:c.672A>T, XM_017004323.1:c.672A>T, XM_047444748.1:c.672A>T, XM_047444747.1:c.672A>T, XM_047444746.1:c.672A>T, NP_598407.1:p.Arg224Ser, NP_057737.2:p.Arg224Ser, XP_005246697.1:p.Arg224Ser, XP_016859813.1:p.Arg224Ser, XP_016859812.1:p.Arg224Ser, XP_047300704.1:p.Arg224Ser, XP_047300703.1:p.Arg224Ser, XP_047300702.1:p.Arg224Ser

Select item 146063536915.

rs1460635369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:173198095 (GRCh38)
2:174062823 (GRCh37)
Canonical SPDI:: NC_000002.12:173198094:G:A
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.173198095G>A, NC_000002.11:g.174062823G>A, NG_029373.1:g.127259G>A, NM_133646.3:c.652G>A, NM_133646.2:c.652G>A, NM_016653.3:c.652G>A, NM_016653.2:c.652G>A, XM_005246640.3:c.652G>A, XM_005246640.2:c.652G>A, XM_005246640.1:c.652G>A, XM_017004324.2:c.652G>A, XM_017004324.1:c.652G>A, XM_017004323.2:c.652G>A, XM_017004323.1:c.652G>A, XM_047444748.1:c.652G>A, XM_047444747.1:c.652G>A, XM_047444746.1:c.652G>A, NR_033882.1:n.2155C>T, NP_598407.1:p.Val218Ile, NP_057737.2:p.Val218Ile, XP_005246697.1:p.Val218Ile, XP_016859813.1:p.Val218Ile, XP_016859812.1:p.Val218Ile, XP_047300704.1:p.Val218Ile, XP_047300703.1:p.Val218Ile, XP_047300702.1:p.Val218Ile

Select item 145886332916.

rs1458863329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:173221169 (GRCh38)
2:174085897 (GRCh37)
Canonical SPDI:: NC_000002.12:173221168:C:A,NC_000002.12:173221168:C:T
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.173221169C>A, NC_000002.12:g.173221169C>T, NC_000002.11:g.174085897C>A, NC_000002.11:g.174085897C>T, NG_029373.1:g.150333C>A, NG_029373.1:g.150333C>T, NM_133646.3:c.1007C>A, NM_133646.3:c.1007C>T, NM_133646.2:c.1007C>A, NM_133646.2:c.1007C>T, XM_017004324.2:c.1007C>A, XM_017004324.2:c.1007C>T, XM_017004324.1:c.1007C>A, XM_017004324.1:c.1007C>T, XM_017004323.2:c.1007C>A, XM_017004323.2:c.1007C>T, XM_017004323.1:c.1007C>A, XM_017004323.1:c.1007C>T, XM_047444748.1:c.1007C>A, XM_047444748.1:c.1007C>T, NP_598407.1:p.Ala336Glu, NP_598407.1:p.Ala336Val, XP_016859813.1:p.Ala336Glu, XP_016859813.1:p.Ala336Val, XP_016859812.1:p.Ala336Glu, XP_016859812.1:p.Ala336Val, XP_047300704.1:p.Ala336Glu, XP_047300704.1:p.Ala336Val

Select item 145789461217.

rs1457894612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:173182892 (GRCh38)
2:174047620 (GRCh37)
Canonical SPDI:: NC_000002.12:173182891:A:G
Gene:: MAP3K20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.173182892A>G, NC_000002.11:g.174047620A>G, NG_029373.1:g.112056A>G, NM_133646.3:c.286A>G, NM_133646.2:c.286A>G, NM_016653.3:c.286A>G, NM_016653.2:c.286A>G, XM_005246640.3:c.286A>G, XM_005246640.2:c.286A>G, XM_005246640.1:c.286A>G, XM_017004324.2:c.286A>G, XM_017004324.1:c.286A>G, XM_017004323.2:c.286A>G, XM_017004323.1:c.286A>G, XM_047444748.1:c.286A>G, XM_047444747.1:c.286A>G, XM_047444746.1:c.286A>G, NP_598407.1:p.Ser96Gly, NP_057737.2:p.Ser96Gly, XP_005246697.1:p.Ser96Gly, XP_016859813.1:p.Ser96Gly, XP_016859812.1:p.Ser96Gly, XP_047300704.1:p.Ser96Gly, XP_047300703.1:p.Ser96Gly, XP_047300702.1:p.Ser96Gly

Select item 145574198118.

rs1455741981 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:173221431 (GRCh38)
2:174086159 (GRCh37)
Canonical SPDI:: NC_000002.12:173221429:ACA:A
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.173221431_173221432del, NC_000002.11:g.174086159_174086160del, NG_029373.1:g.150595_150596del, NM_133646.3:c.1269_1270del, NM_133646.2:c.1269_1270del, XM_017004324.2:c.1269_1270del, XM_017004324.1:c.1269_1270del, XM_017004323.2:c.1269_1270del, XM_017004323.1:c.1269_1270del, XM_047444748.1:c.1269_1270del, NP_598407.1:p.Met424fs, XP_016859813.1:p.Met424fs, XP_016859812.1:p.Met424fs, XP_047300704.1:p.Met424fs

Select item 145483914419.

rs1454839144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:173221465 (GRCh38)
2:174086193 (GRCh37)
Canonical SPDI:: NC_000002.12:173221464:G:A
Gene:: MAP3K20 (Varview), MAP3K20-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.173221465G>A, NC_000002.11:g.174086193G>A, NG_029373.1:g.150629G>A, NM_133646.3:c.1303G>A, NM_133646.2:c.1303G>A, XM_017004324.2:c.1303G>A, XM_017004324.1:c.1303G>A, XM_017004323.2:c.1303G>A, XM_017004323.1:c.1303G>A, XM_047444748.1:c.1303G>A, NP_598407.1:p.Glu435Lys, XP_016859813.1:p.Glu435Lys, XP_016859812.1:p.Glu435Lys, XP_047300704.1:p.Glu435Lys

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Result Filters

Clinical Significance

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Custom range

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Items: 1 to 20 of 359

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