SNP Links for Protein (Select 330864783) - SNP

Links from Protein

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Select item 14883996781.

rs1488399678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131219704 (GRCh38)
6:131540844 (GRCh37)
Canonical SPDI:: NC_000006.12:131219703:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.131219704G>A, NC_000006.11:g.131540844G>A, NG_029123.1:g.89019G>A, NM_016377.4:c.746G>A, NM_016377.3:c.746G>A, NR_170717.1:n.1536G>A, NM_001387860.1:c.614G>A, NR_164833.1:n.1707G>A, NR_164832.1:n.1642G>A, NR_164834.1:n.1247G>A, NR_170716.1:n.1206G>A, NM_001387863.1:c.680G>A, NM_001376570.1:c.746G>A, NM_001387862.1:c.746G>A, NM_001387861.1:c.746G>A, XM_005267229.5:c.680G>A, XM_005267229.4:c.680G>A, XM_005267229.3:c.680G>A, XM_005267229.2:c.680G>A, XM_005267229.1:c.680G>A, XM_017011511.3:c.389G>A, XM_017011511.2:c.389G>A, XM_017011511.1:c.389G>A, XM_017011509.2:c.758G>A, XM_017011509.1:c.758G>A, XM_017011510.2:c.389G>A, XM_017011510.1:c.389G>A, XM_017011506.2:c.1016G>A, XM_017011506.1:c.746G>A, XM_047419571.1:c.776G>A, XM_047419569.1:c.*84G>A, XM_047419568.1:c.1016G>A, XM_047419572.1:c.*21G>A, NP_057461.2:p.Ser249Asn, NP_001374789.1:p.Ser205Asn, NP_001374792.1:p.Ser227Asn, NP_001363499.1:p.Ser249Asn, NP_001374791.1:p.Ser249Asn, NP_001374790.1:p.Ser249Asn, XP_005267286.1:p.Ser227Asn, XP_016867000.1:p.Ser130Asn, XP_016866998.1:p.Ser253Asn, XP_016866999.1:p.Ser130Asn, XP_016866995.2:p.Ser339Asn, XP_047275527.1:p.Ser259Asn, XP_047275524.1:p.Ser339Asn

Select item 14850973282.

rs1485097328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:131169155 (GRCh38)
6:131490295 (GRCh37)
Canonical SPDI:: NC_000006.12:131169154:A:T
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_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_000006.12:g.131169155A>T, NC_000006.11:g.131490295A>T, NG_029123.1:g.38470A>T, NM_016377.4:c.471A>T, NM_016377.3:c.471A>T, NR_170717.1:n.903A>T, NM_001387860.1:c.339A>T, NR_164833.1:n.1432A>T, NR_164832.1:n.1367A>T, NR_164834.1:n.768A>T, NR_170716.1:n.768A>T, NM_001387863.1:c.405A>T, NM_001376570.1:c.471A>T, NM_001387862.1:c.471A>T, NM_001387861.1:c.471A>T, XM_005267229.5:c.405A>T, XM_005267229.4:c.405A>T, XM_005267229.3:c.405A>T, XM_005267229.2:c.405A>T, XM_005267229.1:c.405A>T, XM_017011511.3:c.114A>T, XM_017011511.2:c.114A>T, XM_017011511.1:c.114A>T, XR_001743754.3:n.768A>T, XR_001743754.2:n.504A>T, XR_001743754.1:n.504A>T, XR_001743755.3:n.768A>T, XR_001743755.2:n.504A>T, XR_001743755.1:n.504A>T, XM_024446589.2:c.741A>T, XM_024446589.1:c.471A>T, XM_017011509.2:c.483A>T, XM_017011509.1:c.483A>T, XM_017011510.2:c.114A>T, XM_017011510.1:c.114A>T, XM_017011506.2:c.741A>T, XM_017011506.1:c.471A>T, XM_017011507.2:c.741A>T, XM_017011507.1:c.471A>T, XM_047419570.1:c.741A>T, XM_047419571.1:c.501A>T, XM_047419569.1:c.741A>T, XM_047419568.1:c.741A>T, XM_047419572.1:c.741A>T, NP_057461.2:p.Glu157Asp, NP_001374789.1:p.Glu113Asp, NP_001374792.1:p.Glu135Asp, NP_001363499.1:p.Glu157Asp, NP_001374791.1:p.Glu157Asp, NP_001374790.1:p.Glu157Asp, XP_005267286.1:p.Glu135Asp, XP_016867000.1:p.Glu38Asp, XP_024302357.2:p.Glu247Asp, XP_016866998.1:p.Glu161Asp, XP_016866999.1:p.Glu38Asp, XP_016866995.2:p.Glu247Asp, XP_016866996.2:p.Glu247Asp, XP_047275526.1:p.Glu247Asp, XP_047275527.1:p.Glu167Asp, XP_047275525.1:p.Glu247Asp, XP_047275524.1:p.Glu247Asp, XP_047275528.1:p.Glu247Asp

Select item 14843615643.

rs1484361564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:131169206 (GRCh38)
6:131490346 (GRCh37)
Canonical SPDI:: NC_000006.12:131169205:T:C
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.131169206T>C, NC_000006.11:g.131490346T>C, NG_029123.1:g.38521T>C, NM_016377.4:c.522T>C, NM_016377.3:c.522T>C, NR_170717.1:n.954T>C, NM_001387860.1:c.390T>C, NR_164833.1:n.1483T>C, NR_164832.1:n.1418T>C, NR_164834.1:n.819T>C, NR_170716.1:n.819T>C, NM_001387863.1:c.456T>C, NM_001376570.1:c.522T>C, NM_001387862.1:c.522T>C, NM_001387861.1:c.522T>C, XM_005267229.5:c.456T>C, XM_005267229.4:c.456T>C, XM_005267229.3:c.456T>C, XM_005267229.2:c.456T>C, XM_005267229.1:c.456T>C, XM_017011511.3:c.165T>C, XM_017011511.2:c.165T>C, XM_017011511.1:c.165T>C, XR_001743754.3:n.819T>C, XR_001743754.2:n.555T>C, XR_001743754.1:n.555T>C, XR_001743755.3:n.819T>C, XR_001743755.2:n.555T>C, XR_001743755.1:n.555T>C, XM_024446589.2:c.792T>C, XM_024446589.1:c.522T>C, XM_017011509.2:c.534T>C, XM_017011509.1:c.534T>C, XM_017011510.2:c.165T>C, XM_017011510.1:c.165T>C, XM_017011506.2:c.792T>C, XM_017011506.1:c.522T>C, XM_017011507.2:c.792T>C, XM_017011507.1:c.522T>C, XM_047419570.1:c.792T>C, XM_047419571.1:c.552T>C, XM_047419569.1:c.792T>C, XM_047419568.1:c.792T>C, XM_047419572.1:c.792T>C

Select item 14816185354.

rs1481618535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:131199481 (GRCh38)
6:131520621 (GRCh37)
Canonical SPDI:: NC_000006.12:131199480:C:G
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_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_000006.12:g.131199481C>G, NC_000006.11:g.131520621C>G, NG_029123.1:g.68796C>G, NM_016377.4:c.610C>G, NM_016377.3:c.610C>G, NR_170717.1:n.1400C>G, NM_001387860.1:c.478C>G, NR_164833.1:n.1571C>G, NR_164832.1:n.1506C>G, NR_164834.1:n.907C>G, NR_170716.1:n.907C>G, NM_001387863.1:c.544C>G, NM_001376570.1:c.610C>G, NM_001387862.1:c.610C>G, NM_001387861.1:c.610C>G, XM_005267229.5:c.544C>G, XM_005267229.4:c.544C>G, XM_005267229.3:c.544C>G, XM_005267229.2:c.544C>G, XM_005267229.1:c.544C>G, XM_017011511.3:c.253C>G, XM_017011511.2:c.253C>G, XM_017011511.1:c.253C>G, XR_001743754.3:n.1265C>G, XR_001743754.2:n.1001C>G, XR_001743754.1:n.1001C>G, XR_001743755.3:n.1168C>G, XR_001743755.2:n.904C>G, XR_001743755.1:n.904C>G, XM_024446589.2:c.880C>G, XM_024446589.1:c.610C>G, XM_017011509.2:c.622C>G, XM_017011509.1:c.622C>G, XM_017011510.2:c.253C>G, XM_017011510.1:c.253C>G, XM_017011506.2:c.880C>G, XM_017011506.1:c.610C>G, XM_017011507.2:c.880C>G, XM_017011507.1:c.610C>G, XM_047419570.1:c.880C>G, XM_047419571.1:c.640C>G, XM_047419569.1:c.880C>G, XM_047419568.1:c.880C>G, NP_057461.2:p.Gln204Glu, NP_001374789.1:p.Gln160Glu, NP_001374792.1:p.Gln182Glu, NP_001363499.1:p.Gln204Glu, NP_001374791.1:p.Gln204Glu, NP_001374790.1:p.Gln204Glu, XP_005267286.1:p.Gln182Glu, XP_016867000.1:p.Gln85Glu, XP_024302357.2:p.Gln294Glu, XP_016866998.1:p.Gln208Glu, XP_016866999.1:p.Gln85Glu, XP_016866995.2:p.Gln294Glu, XP_016866996.2:p.Gln294Glu, XP_047275526.1:p.Gln294Glu, XP_047275527.1:p.Gln214Glu, XP_047275525.1:p.Gln294Glu, XP_047275524.1:p.Gln294Glu

Select item 14815045915.

rs1481504591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:131169143 (GRCh38)
6:131490283 (GRCh37)
Canonical SPDI:: NC_000006.12:131169142:A:C,NC_000006.12:131169142:A:T
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.131169143A>C, NC_000006.12:g.131169143A>T, NC_000006.11:g.131490283A>C, NC_000006.11:g.131490283A>T, NG_029123.1:g.38458A>C, NG_029123.1:g.38458A>T, NM_016377.4:c.459A>C, NM_016377.4:c.459A>T, NM_016377.3:c.459A>C, NM_016377.3:c.459A>T, NR_170717.1:n.891A>C, NR_170717.1:n.891A>T, NM_001387860.1:c.327A>C, NM_001387860.1:c.327A>T, NR_164833.1:n.1420A>C, NR_164833.1:n.1420A>T, NR_164832.1:n.1355A>C, NR_164832.1:n.1355A>T, NR_164834.1:n.756A>C, NR_164834.1:n.756A>T, NR_170716.1:n.756A>C, NR_170716.1:n.756A>T, NM_001387863.1:c.393A>C, NM_001387863.1:c.393A>T, NM_001376570.1:c.459A>C, NM_001376570.1:c.459A>T, NM_001387862.1:c.459A>C, NM_001387862.1:c.459A>T, NM_001387861.1:c.459A>C, NM_001387861.1:c.459A>T, XM_005267229.5:c.393A>C, XM_005267229.5:c.393A>T, XM_005267229.4:c.393A>C, XM_005267229.4:c.393A>T, XM_005267229.3:c.393A>C, XM_005267229.3:c.393A>T, XM_005267229.2:c.393A>C, XM_005267229.2:c.393A>T, XM_005267229.1:c.393A>C, XM_005267229.1:c.393A>T, XM_017011511.3:c.102A>C, XM_017011511.3:c.102A>T, XM_017011511.2:c.102A>C, XM_017011511.2:c.102A>T, XM_017011511.1:c.102A>C, XM_017011511.1:c.102A>T, XR_001743754.3:n.756A>C, XR_001743754.3:n.756A>T, XR_001743754.2:n.492A>C, XR_001743754.2:n.492A>T, XR_001743754.1:n.492A>C, XR_001743754.1:n.492A>T, XR_001743755.3:n.756A>C, XR_001743755.3:n.756A>T, XR_001743755.2:n.492A>C, XR_001743755.2:n.492A>T, XR_001743755.1:n.492A>C, XR_001743755.1:n.492A>T, XM_024446589.2:c.729A>C, XM_024446589.2:c.729A>T, XM_024446589.1:c.459A>C, XM_024446589.1:c.459A>T, XM_017011509.2:c.471A>C, XM_017011509.2:c.471A>T, XM_017011509.1:c.471A>C, XM_017011509.1:c.471A>T, XM_017011510.2:c.102A>C, XM_017011510.2:c.102A>T, XM_017011510.1:c.102A>C, XM_017011510.1:c.102A>T, XM_017011506.2:c.729A>C, XM_017011506.2:c.729A>T, XM_017011506.1:c.459A>C, XM_017011506.1:c.459A>T, XM_017011507.2:c.729A>C, XM_017011507.2:c.729A>T, XM_017011507.1:c.459A>C, XM_017011507.1:c.459A>T, XM_047419570.1:c.729A>C, XM_047419570.1:c.729A>T, XM_047419571.1:c.489A>C, XM_047419571.1:c.489A>T, XM_047419569.1:c.729A>C, XM_047419569.1:c.729A>T, XM_047419568.1:c.729A>C, XM_047419568.1:c.729A>T, XM_047419572.1:c.729A>C, XM_047419572.1:c.729A>T

Select item 14793632826.

rs1479363282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:131219670 (GRCh38)
6:131540810 (GRCh37)
Canonical SPDI:: NC_000006.12:131219669:A:C,NC_000006.12:131219669:A:G
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_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_000006.12:g.131219670A>C, NC_000006.12:g.131219670A>G, NC_000006.11:g.131540810A>C, NC_000006.11:g.131540810A>G, NG_029123.1:g.88985A>C, NG_029123.1:g.88985A>G, NM_016377.4:c.712A>C, NM_016377.4:c.712A>G, NM_016377.3:c.712A>C, NM_016377.3:c.712A>G, NR_170717.1:n.1502A>C, NR_170717.1:n.1502A>G, NM_001387860.1:c.580A>C, NM_001387860.1:c.580A>G, NR_164833.1:n.1673A>C, NR_164833.1:n.1673A>G, NR_164832.1:n.1608A>C, NR_164832.1:n.1608A>G, NR_164834.1:n.1213A>C, NR_164834.1:n.1213A>G, NR_170716.1:n.1172A>C, NR_170716.1:n.1172A>G, NM_001387863.1:c.646A>C, NM_001387863.1:c.646A>G, NM_001376570.1:c.712A>C, NM_001376570.1:c.712A>G, NM_001387862.1:c.712A>C, NM_001387862.1:c.712A>G, NM_001387861.1:c.712A>C, NM_001387861.1:c.712A>G, XM_005267229.5:c.646A>C, XM_005267229.5:c.646A>G, XM_005267229.4:c.646A>C, XM_005267229.4:c.646A>G, XM_005267229.3:c.646A>C, XM_005267229.3:c.646A>G, XM_005267229.2:c.646A>C, XM_005267229.2:c.646A>G, XM_005267229.1:c.646A>C, XM_005267229.1:c.646A>G, XM_017011511.3:c.355A>C, XM_017011511.3:c.355A>G, XM_017011511.2:c.355A>C, XM_017011511.2:c.355A>G, XM_017011511.1:c.355A>C, XM_017011511.1:c.355A>G, XM_017011509.2:c.724A>C, XM_017011509.2:c.724A>G, XM_017011509.1:c.724A>C, XM_017011509.1:c.724A>G, XM_017011510.2:c.355A>C, XM_017011510.2:c.355A>G, XM_017011510.1:c.355A>C, XM_017011510.1:c.355A>G, XM_017011506.2:c.982A>C, XM_017011506.2:c.982A>G, XM_017011506.1:c.712A>C, XM_017011506.1:c.712A>G, XM_047419571.1:c.742A>C, XM_047419571.1:c.742A>G, XM_047419569.1:c.*50A>C, XM_047419569.1:c.*50A>G, XM_047419568.1:c.982A>C, XM_047419568.1:c.982A>G, XM_047419572.1:c.869A>C, XM_047419572.1:c.869A>G, NP_057461.2:p.Lys238Gln, NP_057461.2:p.Lys238Glu, NP_001374789.1:p.Lys194Gln, NP_001374789.1:p.Lys194Glu, NP_001374792.1:p.Lys216Gln, NP_001374792.1:p.Lys216Glu, NP_001363499.1:p.Lys238Gln, NP_001363499.1:p.Lys238Glu, NP_001374791.1:p.Lys238Gln, NP_001374791.1:p.Lys238Glu, NP_001374790.1:p.Lys238Gln, NP_001374790.1:p.Lys238Glu, XP_005267286.1:p.Lys216Gln, XP_005267286.1:p.Lys216Glu, XP_016867000.1:p.Lys119Gln, XP_016867000.1:p.Lys119Glu, XP_016866998.1:p.Lys242Gln, XP_016866998.1:p.Lys242Glu, XP_016866999.1:p.Lys119Gln, XP_016866999.1:p.Lys119Glu, XP_016866995.2:p.Lys328Gln, XP_016866995.2:p.Lys328Glu, XP_047275527.1:p.Lys248Gln, XP_047275527.1:p.Lys248Glu, XP_047275524.1:p.Lys328Gln, XP_047275524.1:p.Lys328Glu, XP_047275528.1:p.Lys290Thr, XP_047275528.1:p.Lys290Arg

Select item 14746111427.

rs1474611142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281556 (GRCh38)
6:131602696 (GRCh37)
Canonical SPDI:: NC_000006.12:131281555:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131281556G>A, NC_000006.11:g.131602696G>A, NG_029123.1:g.150871G>A, NM_016377.4:c.877G>A, NM_016377.3:c.877G>A, NM_004842.4:c.76G>A, NM_004842.3:c.76G>A, NM_138633.3:c.145G>A, NM_138633.2:c.145G>A, NR_170717.1:n.1667G>A, NM_001387860.1:c.745G>A, NP_057461.2:p.Asp293Asn, NP_004833.1:p.Asp26Asn, NP_619539.1:p.Asp49Asn, NP_001374789.1:p.Asp249Asn

Select item 14740873598.

rs1474087359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131199498 (GRCh38)
6:131520638 (GRCh37)
Canonical SPDI:: NC_000006.12:131199497:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.131199498G>A, NC_000006.11:g.131520638G>A, NG_029123.1:g.68813G>A, NM_016377.4:c.627G>A, NM_016377.3:c.627G>A, NR_170717.1:n.1417G>A, NM_001387860.1:c.495G>A, NR_164833.1:n.1588G>A, NR_164832.1:n.1523G>A, NR_164834.1:n.924G>A, NR_170716.1:n.924G>A, NM_001387863.1:c.561G>A, NM_001376570.1:c.627G>A, NM_001387862.1:c.627G>A, NM_001387861.1:c.627G>A, XM_005267229.5:c.561G>A, XM_005267229.4:c.561G>A, XM_005267229.3:c.561G>A, XM_005267229.2:c.561G>A, XM_005267229.1:c.561G>A, XM_017011511.3:c.270G>A, XM_017011511.2:c.270G>A, XM_017011511.1:c.270G>A, XR_001743754.3:n.1282G>A, XR_001743754.2:n.1018G>A, XR_001743754.1:n.1018G>A, XR_001743755.3:n.1185G>A, XR_001743755.2:n.921G>A, XR_001743755.1:n.921G>A, XM_024446589.2:c.897G>A, XM_024446589.1:c.627G>A, XM_017011509.2:c.639G>A, XM_017011509.1:c.639G>A, XM_017011510.2:c.270G>A, XM_017011510.1:c.270G>A, XM_017011506.2:c.897G>A, XM_017011506.1:c.627G>A, XM_017011507.2:c.897G>A, XM_017011507.1:c.627G>A, XM_047419570.1:c.897G>A, XM_047419571.1:c.657G>A, XM_047419569.1:c.897G>A, XM_047419568.1:c.897G>A

Select item 14739971629.

rs1473997162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131160145 (GRCh38)
6:131481285 (GRCh37)
Canonical SPDI:: NC_000006.12:131160144:A:G
Gene:: AKAP7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131160145A>G, NC_000006.11:g.131481285A>G, NG_029123.1:g.29460A>G, NM_016377.4:c.238A>G, NM_016377.3:c.238A>G, NR_170717.1:n.535A>G, NM_001387860.1:c.106A>G, NR_164833.1:n.1199A>G, NR_164832.1:n.1134A>G, NR_164834.1:n.535A>G, NR_170716.1:n.535A>G, NM_001387863.1:c.172A>G, NM_001376570.1:c.238A>G, NM_001387862.1:c.238A>G, NM_001387861.1:c.238A>G, XM_005267229.5:c.172A>G, XM_005267229.4:c.172A>G, XM_005267229.3:c.172A>G, XM_005267229.2:c.172A>G, XM_005267229.1:c.172A>G, XR_001743754.3:n.535A>G, XR_001743754.2:n.271A>G, XR_001743754.1:n.271A>G, XR_001743755.3:n.535A>G, XR_001743755.2:n.271A>G, XR_001743755.1:n.271A>G, XM_024446589.2:c.508A>G, XM_024446589.1:c.238A>G, XM_017011509.2:c.250A>G, XM_017011509.1:c.250A>G, XM_017011510.2:c.-120A>G, XM_017011510.1:c.-120A>G, XM_017011506.2:c.508A>G, XM_017011506.1:c.238A>G, XM_017011507.2:c.508A>G, XM_017011507.1:c.238A>G, XM_047419570.1:c.508A>G, XM_047419571.1:c.268A>G, XM_047419569.1:c.508A>G, XM_047419568.1:c.508A>G, XM_047419572.1:c.508A>G, NP_057461.2:p.Arg80Gly, NP_001374789.1:p.Arg36Gly, NP_001374792.1:p.Arg58Gly, NP_001363499.1:p.Arg80Gly, NP_001374791.1:p.Arg80Gly, NP_001374790.1:p.Arg80Gly, XP_005267286.1:p.Arg58Gly, XP_024302357.2:p.Arg170Gly, XP_016866998.1:p.Arg84Gly, XP_016866995.2:p.Arg170Gly, XP_016866996.2:p.Arg170Gly, XP_047275526.1:p.Arg170Gly, XP_047275527.1:p.Arg90Gly, XP_047275525.1:p.Arg170Gly, XP_047275524.1:p.Arg170Gly, XP_047275528.1:p.Arg170Gly

Select item 147219203210.

rs1472192032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281682 (GRCh38)
6:131602822 (GRCh37)
Canonical SPDI:: NC_000006.12:131281681:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.131281682G>A, NC_000006.11:g.131602822G>A, NG_029123.1:g.150997G>A, NM_016377.4:c.1003G>A, NM_016377.3:c.1003G>A, NM_004842.4:c.202G>A, NM_004842.3:c.202G>A, NM_138633.3:c.271G>A, NM_138633.2:c.271G>A, NR_170717.1:n.1793G>A, NM_001387860.1:c.871G>A, NP_057461.2:p.Ala335Thr, NP_004833.1:p.Ala68Thr, NP_619539.1:p.Ala91Thr, NP_001374789.1:p.Ala291Thr

Select item 147170927611.

rs1471709276 [Homo sapiens]

Variant type:: DEL
Alleles:: GTT>- [Show Flanks]
Chromosome:: 6:131219696 (GRCh38)
6:131540836 (GRCh37)
Canonical SPDI:: NC_000006.12:131219695:GTT:
Gene:: AKAP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant,inframe_indel,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.131219696_131219698del, NC_000006.11:g.131540836_131540838del, NG_029123.1:g.89011_89013del, NM_016377.4:c.738_740del, NM_016377.3:c.738_740del, NR_170717.1:n.1528_1530del, NM_001387860.1:c.606_608del, NR_164833.1:n.1699_1701del, NR_164832.1:n.1634_1636del, NR_164834.1:n.1239_1241del, NR_170716.1:n.1198_1200del, NM_001387863.1:c.672_674del, NM_001376570.1:c.738_740del, NM_001387862.1:c.738_740del, NM_001387861.1:c.738_740del, XM_005267229.5:c.672_674del, XM_005267229.4:c.672_674del, XM_005267229.3:c.672_674del, XM_005267229.2:c.672_674del, XM_005267229.1:c.672_674del, XM_017011511.3:c.381_383del, XM_017011511.2:c.381_383del, XM_017011511.1:c.381_383del, XM_017011509.2:c.750_752del, XM_017011509.1:c.750_752del, XM_017011510.2:c.381_383del, XM_017011510.1:c.381_383del, XM_017011506.2:c.1008_1010del, XM_017011506.1:c.738_740del, XM_047419571.1:c.768_770del, XM_047419569.1:c.*76_*78del, XM_047419568.1:c.1008_1010del, XM_047419572.1:c.*13_*15del, NP_057461.2:p.Lys246_Phe247delinsAsn, NP_001374789.1:p.Lys202_Phe203delinsAsn, NP_001374792.1:p.Lys224_Phe225delinsAsn, NP_001363499.1:p.Lys246_Phe247delinsAsn, NP_001374791.1:p.Lys246_Phe247delinsAsn, NP_001374790.1:p.Lys246_Phe247delinsAsn, XP_005267286.1:p.Lys224_Phe225delinsAsn, XP_016867000.1:p.Lys127_Phe128delinsAsn, XP_016866998.1:p.Lys250_Phe251delinsAsn, XP_016866999.1:p.Lys127_Phe128delinsAsn, XP_016866995.2:p.Lys336_Phe337delinsAsn, XP_047275527.1:p.Lys256_Phe257delinsAsn, XP_047275524.1:p.Lys336_Phe337delinsAsn

Select item 146840971312.

rs1468409713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131281562 (GRCh38)
6:131602702 (GRCh37)
Canonical SPDI:: NC_000006.12:131281561:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.131281562G>A, NC_000006.11:g.131602702G>A, NG_029123.1:g.150877G>A, NM_016377.4:c.883G>A, NM_016377.3:c.883G>A, NM_004842.4:c.82G>A, NM_004842.3:c.82G>A, NM_138633.3:c.151G>A, NM_138633.2:c.151G>A, NR_170717.1:n.1673G>A, NM_001387860.1:c.751G>A, NP_057461.2:p.Glu295Lys, NP_004833.1:p.Glu28Lys, NP_619539.1:p.Glu51Lys, NP_001374789.1:p.Glu251Lys

Select item 145576525613.

rs1455765256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:131219751 (GRCh38)
6:131540891 (GRCh37)
Canonical SPDI:: NC_000006.12:131219750:A:G
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.131219751A>G, NC_000006.11:g.131540891A>G, NG_029123.1:g.89066A>G, NM_016377.4:c.793A>G, NM_016377.3:c.793A>G, NR_170717.1:n.1583A>G, NM_001387860.1:c.661A>G, NR_164833.1:n.1754A>G, NR_164832.1:n.1689A>G, NR_164834.1:n.1294A>G, NR_170716.1:n.1253A>G, NM_001387863.1:c.727A>G, NM_001376570.1:c.793A>G, NM_001387862.1:c.793A>G, NM_001387861.1:c.793A>G, XM_005267229.5:c.727A>G, XM_005267229.4:c.727A>G, XM_005267229.3:c.727A>G, XM_005267229.2:c.727A>G, XM_005267229.1:c.727A>G, XM_017011511.3:c.436A>G, XM_017011511.2:c.436A>G, XM_017011511.1:c.436A>G, XM_017011509.2:c.805A>G, XM_017011509.1:c.805A>G, XM_017011510.2:c.436A>G, XM_017011510.1:c.436A>G, XM_017011506.2:c.1063A>G, XM_017011506.1:c.793A>G, XM_047419571.1:c.823A>G, XM_047419569.1:c.*131A>G, XM_047419568.1:c.1063A>G, XM_047419572.1:c.*68A>G, NP_057461.2:p.Met265Val, NP_001374789.1:p.Met221Val, NP_001374792.1:p.Met243Val, NP_001363499.1:p.Met265Val, NP_001374791.1:p.Met265Val, NP_001374790.1:p.Met265Val, XP_005267286.1:p.Met243Val, XP_016867000.1:p.Met146Val, XP_016866998.1:p.Met269Val, XP_016866999.1:p.Met146Val, XP_016866995.2:p.Met355Val, XP_047275527.1:p.Met275Val, XP_047275524.1:p.Met355Val

Select item 145432706514.

rs1454327065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131199540 (GRCh38)
6:131520680 (GRCh37)
Canonical SPDI:: NC_000006.12:131199539:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.131199540G>A, NC_000006.11:g.131520680G>A, NG_029123.1:g.68855G>A, NM_016377.4:c.669G>A, NM_016377.3:c.669G>A, NR_170717.1:n.1459G>A, NM_001387860.1:c.537G>A, NR_164833.1:n.1630G>A, NR_164832.1:n.1565G>A, NR_164834.1:n.966G>A, NR_170716.1:n.966G>A, NM_001387863.1:c.603G>A, NM_001376570.1:c.669G>A, NM_001387862.1:c.669G>A, NM_001387861.1:c.669G>A, XM_005267229.5:c.603G>A, XM_005267229.4:c.603G>A, XM_005267229.3:c.603G>A, XM_005267229.2:c.603G>A, XM_005267229.1:c.603G>A, XM_017011511.3:c.312G>A, XM_017011511.2:c.312G>A, XM_017011511.1:c.312G>A, XM_024446589.2:c.939G>A, XM_024446589.1:c.669G>A, XM_017011509.2:c.681G>A, XM_017011509.1:c.681G>A, XM_017011510.2:c.312G>A, XM_017011510.1:c.312G>A, XM_017011506.2:c.939G>A, XM_017011506.1:c.669G>A, XM_017011507.2:c.939G>A, XM_017011507.1:c.669G>A, XM_047419570.1:c.939G>A, XM_047419571.1:c.699G>A, XM_047419569.1:c.939G>A, XM_047419568.1:c.939G>A, NP_057461.2:p.Met223Ile, NP_001374789.1:p.Met179Ile, NP_001374792.1:p.Met201Ile, NP_001363499.1:p.Met223Ile, NP_001374791.1:p.Met223Ile, NP_001374790.1:p.Met223Ile, XP_005267286.1:p.Met201Ile, XP_016867000.1:p.Met104Ile, XP_024302357.2:p.Met313Ile, XP_016866998.1:p.Met227Ile, XP_016866999.1:p.Met104Ile, XP_016866995.2:p.Met313Ile, XP_016866996.2:p.Met313Ile, XP_047275526.1:p.Met313Ile, XP_047275527.1:p.Met233Ile, XP_047275525.1:p.Met313Ile, XP_047275524.1:p.Met313Ile

Select item 145007684715.

rs1450076847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:131199536 (GRCh38)
6:131520676 (GRCh37)
Canonical SPDI:: NC_000006.12:131199535:T:C
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.131199536T>C, NC_000006.11:g.131520676T>C, NG_029123.1:g.68851T>C, NM_016377.4:c.665T>C, NM_016377.3:c.665T>C, NR_170717.1:n.1455T>C, NM_001387860.1:c.533T>C, NR_164833.1:n.1626T>C, NR_164832.1:n.1561T>C, NR_164834.1:n.962T>C, NR_170716.1:n.962T>C, NM_001387863.1:c.599T>C, NM_001376570.1:c.665T>C, NM_001387862.1:c.665T>C, NM_001387861.1:c.665T>C, XM_005267229.5:c.599T>C, XM_005267229.4:c.599T>C, XM_005267229.3:c.599T>C, XM_005267229.2:c.599T>C, XM_005267229.1:c.599T>C, XM_017011511.3:c.308T>C, XM_017011511.2:c.308T>C, XM_017011511.1:c.308T>C, XR_001743754.3:n.1320T>C, XR_001743754.2:n.1056T>C, XR_001743754.1:n.1056T>C, XR_001743755.3:n.1223T>C, XR_001743755.2:n.959T>C, XR_001743755.1:n.959T>C, XM_024446589.2:c.935T>C, XM_024446589.1:c.665T>C, XM_017011509.2:c.677T>C, XM_017011509.1:c.677T>C, XM_017011510.2:c.308T>C, XM_017011510.1:c.308T>C, XM_017011506.2:c.935T>C, XM_017011506.1:c.665T>C, XM_017011507.2:c.935T>C, XM_017011507.1:c.665T>C, XM_047419570.1:c.935T>C, XM_047419571.1:c.695T>C, XM_047419569.1:c.935T>C, XM_047419568.1:c.935T>C, NP_057461.2:p.Phe222Ser, NP_001374789.1:p.Phe178Ser, NP_001374792.1:p.Phe200Ser, NP_001363499.1:p.Phe222Ser, NP_001374791.1:p.Phe222Ser, NP_001374790.1:p.Phe222Ser, XP_005267286.1:p.Phe200Ser, XP_016867000.1:p.Phe103Ser, XP_024302357.2:p.Phe312Ser, XP_016866998.1:p.Phe226Ser, XP_016866999.1:p.Phe103Ser, XP_016866995.2:p.Phe312Ser, XP_016866996.2:p.Phe312Ser, XP_047275526.1:p.Phe312Ser, XP_047275527.1:p.Phe232Ser, XP_047275525.1:p.Phe312Ser, XP_047275524.1:p.Phe312Ser

Select item 144985362416.

rs1449853624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:131219685 (GRCh38)
6:131540825 (GRCh37)
Canonical SPDI:: NC_000006.12:131219684:T:A
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000006.12:g.131219685T>A, NC_000006.11:g.131540825T>A, NG_029123.1:g.89000T>A, NM_016377.4:c.727T>A, NM_016377.3:c.727T>A, NR_170717.1:n.1517T>A, NM_001387860.1:c.595T>A, NR_164833.1:n.1688T>A, NR_164832.1:n.1623T>A, NR_164834.1:n.1228T>A, NR_170716.1:n.1187T>A, NM_001387863.1:c.661T>A, NM_001376570.1:c.727T>A, NM_001387862.1:c.727T>A, NM_001387861.1:c.727T>A, XM_005267229.5:c.661T>A, XM_005267229.4:c.661T>A, XM_005267229.3:c.661T>A, XM_005267229.2:c.661T>A, XM_005267229.1:c.661T>A, XM_017011511.3:c.370T>A, XM_017011511.2:c.370T>A, XM_017011511.1:c.370T>A, XM_017011509.2:c.739T>A, XM_017011509.1:c.739T>A, XM_017011510.2:c.370T>A, XM_017011510.1:c.370T>A, XM_017011506.2:c.997T>A, XM_017011506.1:c.727T>A, XM_047419571.1:c.757T>A, XM_047419569.1:c.*65T>A, XM_047419568.1:c.997T>A, XM_047419572.1:c.*2T>A, NP_057461.2:p.Leu243Ile, NP_001374789.1:p.Leu199Ile, NP_001374792.1:p.Leu221Ile, NP_001363499.1:p.Leu243Ile, NP_001374791.1:p.Leu243Ile, NP_001374790.1:p.Leu243Ile, XP_005267286.1:p.Leu221Ile, XP_016867000.1:p.Leu124Ile, XP_016866998.1:p.Leu247Ile, XP_016866999.1:p.Leu124Ile, XP_016866995.2:p.Leu333Ile, XP_047275527.1:p.Leu253Ile, XP_047275524.1:p.Leu333Ile

Select item 144452575817.

rs1444525758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:131199561 (GRCh38)
6:131520701 (GRCh37)
Canonical SPDI:: NC_000006.12:131199560:G:T
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131199561G>T, NC_000006.11:g.131520701G>T, NG_029123.1:g.68876G>T, NM_016377.4:c.690G>T, NM_016377.3:c.690G>T, NR_170717.1:n.1480G>T, NM_001387860.1:c.558G>T, NR_164833.1:n.1651G>T, NR_164832.1:n.1586G>T, NR_164834.1:n.987G>T, NR_170716.1:n.987G>T, NM_001387863.1:c.624G>T, NM_001376570.1:c.690G>T, NM_001387862.1:c.690G>T, NM_001387861.1:c.690G>T, XM_005267229.5:c.624G>T, XM_005267229.4:c.624G>T, XM_005267229.3:c.624G>T, XM_005267229.2:c.624G>T, XM_005267229.1:c.624G>T, XM_017011511.3:c.333G>T, XM_017011511.2:c.333G>T, XM_017011511.1:c.333G>T, XM_024446589.2:c.960G>T, XM_024446589.1:c.690G>T, XM_017011509.2:c.702G>T, XM_017011509.1:c.702G>T, XM_017011510.2:c.333G>T, XM_017011510.1:c.333G>T, XM_017011506.2:c.960G>T, XM_017011506.1:c.690G>T, XM_017011507.2:c.960G>T, XM_017011507.1:c.690G>T, XM_047419570.1:c.960G>T, XM_047419571.1:c.720G>T, XM_047419569.1:c.960G>T, XM_047419568.1:c.960G>T, NP_057461.2:p.Trp230Cys, NP_001374789.1:p.Trp186Cys, NP_001374792.1:p.Trp208Cys, NP_001363499.1:p.Trp230Cys, NP_001374791.1:p.Trp230Cys, NP_001374790.1:p.Trp230Cys, XP_005267286.1:p.Trp208Cys, XP_016867000.1:p.Trp111Cys, XP_024302357.2:p.Trp320Cys, XP_016866998.1:p.Trp234Cys, XP_016866999.1:p.Trp111Cys, XP_016866995.2:p.Trp320Cys, XP_016866996.2:p.Trp320Cys, XP_047275526.1:p.Trp320Cys, XP_047275527.1:p.Trp240Cys, XP_047275525.1:p.Trp320Cys, XP_047275524.1:p.Trp320Cys

Select item 144390666718.

rs1443906667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:131281713 (GRCh38)
6:131602853 (GRCh37)
Canonical SPDI:: NC_000006.12:131281712:A:C
Gene:: AKAP7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_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_000006.12:g.131281713A>C, NC_000006.11:g.131602853A>C, NG_029123.1:g.151028A>C, NM_016377.4:c.1034A>C, NM_016377.3:c.1034A>C, NM_004842.4:c.233A>C, NM_004842.3:c.233A>C, NM_138633.3:c.302A>C, NM_138633.2:c.302A>C, NR_170717.1:n.1824A>C, NM_001387860.1:c.902A>C, NP_057461.2:p.Asn345Thr, NP_004833.1:p.Asn78Thr, NP_619539.1:p.Asn101Thr, NP_001374789.1:p.Asn301Thr

Select item 143442938119.

rs1434429381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:131165144 (GRCh38)
6:131486284 (GRCh37)
Canonical SPDI:: NC_000006.12:131165143:G:A
Gene:: AKAP7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.131165144G>A, NC_000006.11:g.131486284G>A, NG_029123.1:g.34459G>A, NM_016377.4:c.355G>A, NM_016377.3:c.355G>A, NR_170717.1:n.787G>A, NM_001387860.1:c.223G>A, NR_164833.1:n.1316G>A, NR_164832.1:n.1251G>A, NR_164834.1:n.652G>A, NR_170716.1:n.652G>A, NM_001387863.1:c.289G>A, NM_001376570.1:c.355G>A, NM_001387862.1:c.355G>A, NM_001387861.1:c.355G>A, XM_005267229.5:c.289G>A, XM_005267229.4:c.289G>A, XM_005267229.3:c.289G>A, XM_005267229.2:c.289G>A, XM_005267229.1:c.289G>A, XM_017011511.3:c.-3G>A, XM_017011511.2:c.-3G>A, XM_017011511.1:c.-3G>A, XR_001743754.3:n.652G>A, XR_001743754.2:n.388G>A, XR_001743754.1:n.388G>A, XR_001743755.3:n.652G>A, XR_001743755.2:n.388G>A, XR_001743755.1:n.388G>A, XM_024446589.2:c.625G>A, XM_024446589.1:c.355G>A, XM_017011509.2:c.367G>A, XM_017011509.1:c.367G>A, XM_017011510.2:c.-3G>A, XM_017011510.1:c.-3G>A, XM_017011506.2:c.625G>A, XM_017011506.1:c.355G>A, XM_017011507.2:c.625G>A, XM_017011507.1:c.355G>A, XM_047419570.1:c.625G>A, XM_047419571.1:c.385G>A, XM_047419569.1:c.625G>A, XM_047419568.1:c.625G>A, XM_047419572.1:c.625G>A, NP_057461.2:p.Ala119Thr, NP_001374789.1:p.Ala75Thr, NP_001374792.1:p.Ala97Thr, NP_001363499.1:p.Ala119Thr, NP_001374791.1:p.Ala119Thr, NP_001374790.1:p.Ala119Thr, XP_005267286.1:p.Ala97Thr, XP_024302357.2:p.Ala209Thr, XP_016866998.1:p.Ala123Thr, XP_016866995.2:p.Ala209Thr, XP_016866996.2:p.Ala209Thr, XP_047275526.1:p.Ala209Thr, XP_047275527.1:p.Ala129Thr, XP_047275525.1:p.Ala209Thr, XP_047275524.1:p.Ala209Thr, XP_047275528.1:p.Ala209Thr

Select item 143037882920.

rs1430378829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:131199556 (GRCh38)
6:131520696 (GRCh37)
Canonical SPDI:: NC_000006.12:131199555:C:G
Gene:: AKAP7 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131199556C>G, NC_000006.11:g.131520696C>G, NG_029123.1:g.68871C>G, NM_016377.4:c.685C>G, NM_016377.3:c.685C>G, NR_170717.1:n.1475C>G, NM_001387860.1:c.553C>G, NR_164833.1:n.1646C>G, NR_164832.1:n.1581C>G, NR_164834.1:n.982C>G, NR_170716.1:n.982C>G, NM_001387863.1:c.619C>G, NM_001376570.1:c.685C>G, NM_001387862.1:c.685C>G, NM_001387861.1:c.685C>G, XM_005267229.5:c.619C>G, XM_005267229.4:c.619C>G, XM_005267229.3:c.619C>G, XM_005267229.2:c.619C>G, XM_005267229.1:c.619C>G, XM_017011511.3:c.328C>G, XM_017011511.2:c.328C>G, XM_017011511.1:c.328C>G, XM_024446589.2:c.955C>G, XM_024446589.1:c.685C>G, XM_017011509.2:c.697C>G, XM_017011509.1:c.697C>G, XM_017011510.2:c.328C>G, XM_017011510.1:c.328C>G, XM_017011506.2:c.955C>G, XM_017011506.1:c.685C>G, XM_017011507.2:c.955C>G, XM_017011507.1:c.685C>G, XM_047419570.1:c.955C>G, XM_047419571.1:c.715C>G, XM_047419569.1:c.955C>G, XM_047419568.1:c.955C>G, NP_057461.2:p.Pro229Ala, NP_001374789.1:p.Pro185Ala, NP_001374792.1:p.Pro207Ala, NP_001363499.1:p.Pro229Ala, NP_001374791.1:p.Pro229Ala, NP_001374790.1:p.Pro229Ala, XP_005267286.1:p.Pro207Ala, XP_016867000.1:p.Pro110Ala, XP_024302357.2:p.Pro319Ala, XP_016866998.1:p.Pro233Ala, XP_016866999.1:p.Pro110Ala, XP_016866995.2:p.Pro319Ala, XP_016866996.2:p.Pro319Ala, XP_047275526.1:p.Pro319Ala, XP_047275527.1:p.Pro239Ala, XP_047275525.1:p.Pro319Ala, XP_047275524.1:p.Pro319Ala

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