SNP Links for Protein (Select 30520346) - SNP

Links from Protein

Items: 1 to 20 of 118

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Select item 14735904161.

rs1473590416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119903516 (GRCh38)
X:119037479 (GRCh37)
Canonical SPDI:: NC_000023.11:119903515:A:G
Gene:: AKAP14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119903516A>G, NC_000023.10:g.119037479A>G, NG_013218.1:g.12544A>G, NM_178813.6:c.191A>G, NM_178813.5:c.191A>G, NM_001008534.2:c.191A>G, NM_001008534.1:c.191A>G, NM_001008535.2:c.191A>G, NM_001008535.1:c.191A>G, NP_848928.1:p.Asn64Ser, NP_001008534.1:p.Asn64Ser, NP_001008535.1:p.Asn64Ser

Select item 14615742502.

rs1461574250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119903365 (GRCh38)
X:119037328 (GRCh37)
Canonical SPDI:: NC_000023.11:119903364:A:G
Gene:: AKAP14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119903365A>G, NC_000023.10:g.119037328A>G, NG_013218.1:g.12393A>G, NM_178813.6:c.142A>G, NM_178813.5:c.142A>G, NM_001008534.2:c.142A>G, NM_001008534.1:c.142A>G, NM_001008535.2:c.142A>G, NM_001008535.1:c.142A>G, NP_848928.1:p.Ile48Val, NP_001008534.1:p.Ile48Val, NP_001008535.1:p.Ile48Val

Select item 14602974153.

rs1460297415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:119919923 (GRCh38)
X:119053886 (GRCh37)
Canonical SPDI:: NC_000023.11:119919922:G:T
Gene:: AKAP14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.119919923G>T, NC_000023.10:g.119053886G>T, NG_013218.1:g.28951G>T, NM_178813.6:c.454G>T, NM_178813.5:c.454G>T, NM_001008534.2:c.274G>T, NM_001008534.1:c.274G>T, NP_848928.1:p.Val152Phe, NP_001008534.1:p.Val92Phe

Select item 14602282374.

rs1460228237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119914828 (GRCh38)
X:119048791 (GRCh37)
Canonical SPDI:: NC_000023.11:119914827:A:G
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119914828A>G, NC_000023.10:g.119048791A>G, NG_013218.1:g.23856A>G, NM_178813.6:c.391A>G, NM_178813.5:c.391A>G, NP_848928.1:p.Ile131Val

Select item 14592370795.

rs1459237079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119920538 (GRCh38)
X:119054501 (GRCh37)
Canonical SPDI:: NC_000023.11:119920537:G:A
Gene:: NKAP (Varview), AKAP14 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119920538G>A, NC_000023.10:g.119054501G>A, NG_013218.1:g.29566G>A, NM_178813.6:c.525G>A, NM_178813.5:c.525G>A, NM_001008534.2:c.345G>A, NM_001008534.1:c.345G>A, NP_848928.1:p.Trp175Ter, NP_001008534.1:p.Trp115Ter

Select item 14539745466.

rs1453974546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:119914861 (GRCh38)
X:119048824 (GRCh37)
Canonical SPDI:: NC_000023.11:119914860:T:G
Gene:: AKAP14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/4 (GnomAD_exomes)
G=0.00003/8 (TOPMED)
G=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.119914861T>G, NC_000023.10:g.119048824T>G, NG_013218.1:g.23889T>G, NM_178813.6:c.424T>G, NM_178813.5:c.424T>G, NP_848928.1:p.Ser142Ala

Select item 14452209687.

rs1445220968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119903384 (GRCh38)
X:119037347 (GRCh37)
Canonical SPDI:: NC_000023.11:119903383:T:C
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.119903384T>C, NC_000023.10:g.119037347T>C, NG_013218.1:g.12412T>C, NM_178813.6:c.161T>C, NM_178813.5:c.161T>C, NM_001008534.2:c.161T>C, NM_001008534.1:c.161T>C, NM_001008535.2:c.161T>C, NM_001008535.1:c.161T>C, NP_848928.1:p.Ile54Thr, NP_001008534.1:p.Ile54Thr, NP_001008535.1:p.Ile54Thr

Select item 14451504778.

rs1445150477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119903244 (GRCh38)
X:119037207 (GRCh37)
Canonical SPDI:: NC_000023.11:119903243:A:G
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119903244A>G, NC_000023.10:g.119037207A>G, NG_013218.1:g.12272A>G, NM_178813.6:c.21A>G, NM_178813.5:c.21A>G, NM_001008534.2:c.21A>G, NM_001008534.1:c.21A>G, NM_001008535.2:c.21A>G, NM_001008535.1:c.21A>G

Select item 14338453689.

rs1433845368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119920522 (GRCh38)
X:119054485 (GRCh37)
Canonical SPDI:: NC_000023.11:119920521:G:A
Gene:: NKAP (Varview), AKAP14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.119920522G>A, NC_000023.10:g.119054485G>A, NG_013218.1:g.29550G>A, NM_178813.6:c.509G>A, NM_178813.5:c.509G>A, NM_001008534.2:c.329G>A, NM_001008534.1:c.329G>A, NP_848928.1:p.Arg170His, NP_001008534.1:p.Arg110His

Select item 141044909810.

rs1410449098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119919942 (GRCh38)
X:119053905 (GRCh37)
Canonical SPDI:: NC_000023.11:119919941:A:G
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119919942A>G, NC_000023.10:g.119053905A>G, NG_013218.1:g.28970A>G, NM_178813.6:c.473A>G, NM_178813.5:c.473A>G, NM_001008534.2:c.293A>G, NM_001008534.1:c.293A>G, NP_848928.1:p.Asp158Gly, NP_001008534.1:p.Asp98Gly

Select item 139712924911.

rs1397129249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119919941 (GRCh38)
X:119053904 (GRCh37)
Canonical SPDI:: NC_000023.11:119919940:G:A
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119919941G>A, NC_000023.10:g.119053904G>A, NG_013218.1:g.28969G>A, NM_178813.6:c.472G>A, NM_178813.5:c.472G>A, NM_001008534.2:c.292G>A, NM_001008534.1:c.292G>A, NP_848928.1:p.Asp158Asn, NP_001008534.1:p.Asp98Asn

Select item 139246221512.

rs1392462215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:119914752 (GRCh38)
X:119048715 (GRCh37)
Canonical SPDI:: NC_000023.11:119914751:A:C
Gene:: AKAP14 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119914752A>C, NC_000023.10:g.119048715A>C, NG_013218.1:g.23780A>C, NM_178813.6:c.315A>C, NM_178813.5:c.315A>C, NP_848928.1:p.Lys105Asn

Select item 138442802913.

rs1384428029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119903230 (GRCh38)
X:119037193 (GRCh37)
Canonical SPDI:: NC_000023.11:119903229:G:A
Gene:: AKAP14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000187/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119903230G>A, NC_000023.10:g.119037193G>A, NG_013218.1:g.12258G>A, NM_178813.6:c.7G>A, NM_178813.5:c.7G>A, NM_001008534.2:c.7G>A, NM_001008534.1:c.7G>A, NM_001008535.2:c.7G>A, NM_001008535.1:c.7G>A, NP_848928.1:p.Glu3Lys, NP_001008534.1:p.Glu3Lys, NP_001008535.1:p.Glu3Lys

Select item 138377097514.

rs1383770975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119914779 (GRCh38)
X:119048742 (GRCh37)
Canonical SPDI:: NC_000023.11:119914778:C:T
Gene:: AKAP14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.119914779C>T, NC_000023.10:g.119048742C>T, NG_013218.1:g.23807C>T, NM_178813.6:c.342C>T, NM_178813.5:c.342C>T

Select item 138124746315.

rs1381247463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119914878 (GRCh38)
X:119048841 (GRCh37)
Canonical SPDI:: NC_000023.11:119914877:G:A
Gene:: AKAP14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119914878G>A, NC_000023.10:g.119048841G>A, NG_013218.1:g.23906G>A, NM_178813.6:c.441G>A, NM_178813.5:c.441G>A

Select item 138024711616.

rs1380247116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119914792 (GRCh38)
X:119048755 (GRCh37)
Canonical SPDI:: NC_000023.11:119914791:T:C
Gene:: AKAP14 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119914792T>C, NC_000023.10:g.119048755T>C, NG_013218.1:g.23820T>C, NM_178813.6:c.355T>C, NM_178813.5:c.355T>C, NP_848928.1:p.Trp119Arg

Select item 137844072517.

rs1378440725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:119903254 (GRCh38)
X:119037217 (GRCh37)
Canonical SPDI:: NC_000023.11:119903253:A:C
Gene:: AKAP14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119903254A>C, NC_000023.10:g.119037217A>C, NG_013218.1:g.12282A>C, NM_178813.6:c.31A>C, NM_178813.5:c.31A>C, NM_001008534.2:c.31A>C, NM_001008534.1:c.31A>C, NM_001008535.2:c.31A>C, NM_001008535.1:c.31A>C, NP_848928.1:p.Lys11Gln, NP_001008534.1:p.Lys11Gln, NP_001008535.1:p.Lys11Gln

Select item 137355944218.

rs1373559442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119920519 (GRCh38)
X:119054482 (GRCh37)
Canonical SPDI:: NC_000023.11:119920518:T:C
Gene:: NKAP (Varview), AKAP14 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119920519T>C, NC_000023.10:g.119054482T>C, NG_013218.1:g.29547T>C, NM_178813.6:c.506T>C, NM_178813.5:c.506T>C, NM_001008534.2:c.326T>C, NM_001008534.1:c.326T>C, NP_848928.1:p.Val169Ala, NP_001008534.1:p.Val109Ala

Select item 136249952719.

rs1362499527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:119914731 (GRCh38)
X:119048694 (GRCh37)
Canonical SPDI:: NC_000023.11:119914730:C:A,NC_000023.11:119914730:C:T
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.119914731C>A, NC_000023.11:g.119914731C>T, NC_000023.10:g.119048694C>A, NC_000023.10:g.119048694C>T, NG_013218.1:g.23759C>A, NG_013218.1:g.23759C>T, NM_178813.6:c.294C>A, NM_178813.6:c.294C>T, NM_178813.5:c.294C>A, NM_178813.5:c.294C>T

Select item 136073457820.

rs1360734578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119919918 (GRCh38)
X:119053881 (GRCh37)
Canonical SPDI:: NC_000023.11:119919917:C:T
Gene:: AKAP14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.119919918C>T, NC_000023.10:g.119053881C>T, NG_013218.1:g.28946C>T, NM_178813.6:c.449C>T, NM_178813.5:c.449C>T, NM_001008534.2:c.269C>T, NM_001008534.1:c.269C>T, NP_848928.1:p.Pro150Leu, NP_001008534.1:p.Pro90Leu

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