SNP Links for Protein (Select 395627649) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 1443

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Select item 14909886991.

rs1490988699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:85735039 (GRCh38)
15:86278270 (GRCh37)
Canonical SPDI:: NC_000015.10:85735038:G:C
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000142/2 (TOMMO)
HGVS:: NC_000015.10:g.85735039G>C, NC_000015.9:g.86278270G>C, NM_006738.6:c.7342G>C, NM_006738.5:c.7342G>C, NM_007200.5:c.7330G>C, NM_007200.4:c.7330G>C, NM_144767.3:c.2065G>C, NM_144767.2:c.2065G>C, NM_001270546.1:c.3193G>C, NM_144767.1:c.2065G>C, NP_006729.4:p.Gly2448Arg, NP_009131.2:p.Gly2444Arg, NP_001257475.1:p.Gly1065Arg

Select item 14892332602.

rs1489233260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:85741215 (GRCh38)
15:86284446 (GRCh37)
Canonical SPDI:: NC_000015.10:85741214:A:G
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.85741215A>G, NC_000015.9:g.86284446A>G, NM_006738.6:c.7790A>G, NM_006738.5:c.7790A>G, NM_007200.5:c.7778A>G, NM_007200.4:c.7778A>G, NM_144767.3:c.2513A>G, NM_144767.2:c.2513A>G, NM_001270546.1:c.3641A>G, NM_144767.1:c.2513A>G, NP_006729.4:p.Gln2597Arg, NP_009131.2:p.Gln2593Arg, NP_001257475.1:p.Gln1214Arg

Select item 14890801893.

rs1489080189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:85741091 (GRCh38)
15:86284322 (GRCh37)
Canonical SPDI:: NC_000015.10:85741090:G:C
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.85741091G>C, NC_000015.9:g.86284322G>C, NM_006738.6:c.7666G>C, NM_006738.5:c.7666G>C, NM_007200.5:c.7654G>C, NM_007200.4:c.7654G>C, NM_144767.3:c.2389G>C, NM_144767.2:c.2389G>C, NM_001270546.1:c.3517G>C, NM_144767.1:c.2389G>C, NP_006729.4:p.Val2556Leu, NP_009131.2:p.Val2552Leu, NP_001257475.1:p.Val1173Leu

Select item 14887513624.

rs1488751362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:85741441 (GRCh38)
15:86284672 (GRCh37)
Canonical SPDI:: NC_000015.10:85741440:G:A
Gene:: AKAP13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.85741441G>A, NC_000015.9:g.86284672G>A, NM_006738.6:c.8016G>A, NM_006738.5:c.8016G>A, NM_007200.5:c.8004G>A, NM_007200.4:c.8004G>A, NM_144767.3:c.2739G>A, NM_144767.2:c.2739G>A, NM_001270546.1:c.3867G>A, NM_144767.1:c.2739G>A

Select item 14886499715.

rs1488649971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:85669828 (GRCh38)
15:86213059 (GRCh37)
Canonical SPDI:: NC_000015.10:85669827:A:G
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85669828A>G, NC_000015.9:g.86213059A>G, NM_006738.6:c.5111A>G, NM_006738.5:c.5111A>G, NM_007200.5:c.5099A>G, NM_007200.4:c.5099A>G, NM_001270546.1:c.965A>G, NP_006729.4:p.Asp1704Gly, NP_009131.2:p.Asp1700Gly, NP_001257475.1:p.Asp322Gly

Select item 14885735976.

rs1488573597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:85655474 (GRCh38)
15:86198705 (GRCh37)
Canonical SPDI:: NC_000015.10:85655473:A:G
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.85655474A>G, NC_000015.9:g.86198705A>G, NM_006738.6:c.4432A>G, NM_006738.5:c.4432A>G, NM_007200.5:c.4432A>G, NM_007200.4:c.4432A>G, NM_001270546.1:c.352A>G, NP_006729.4:p.Thr1478Ala, NP_009131.2:p.Thr1478Ala, NP_001257475.1:p.Thr118Ala

Select item 14881456197.

rs1488145619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:85620114 (GRCh38)
15:86163345 (GRCh37)
Canonical SPDI:: NC_000015.10:85620113:G:A,NC_000015.10:85620113:G:T
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.85620114G>A, NC_000015.10:g.85620114G>T, NC_000015.9:g.86163345G>A, NC_000015.9:g.86163345G>T, NM_001270546.1:c.23G>A, NM_001270546.1:c.23G>T, NP_001257475.1:p.Arg8His, NP_001257475.1:p.Arg8Leu

Select item 14880761988.

rs1488076198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:85655470 (GRCh38)
15:86198701 (GRCh37)
Canonical SPDI:: NC_000015.10:85655469:T:C
Gene:: AKAP13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85655470T>C, NC_000015.9:g.86198701T>C, NM_006738.6:c.4428T>C, NM_006738.5:c.4428T>C, NM_007200.5:c.4428T>C, NM_007200.4:c.4428T>C, NM_001270546.1:c.348T>C

Select item 14875174669.

rs1487517466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:85735071 (GRCh38)
15:86278302 (GRCh37)
Canonical SPDI:: NC_000015.10:85735070:T:G
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.85735071T>G, NC_000015.9:g.86278302T>G, NM_006738.6:c.7374T>G, NM_006738.5:c.7374T>G, NM_007200.5:c.7362T>G, NM_007200.4:c.7362T>G, NM_144767.3:c.2097T>G, NM_144767.2:c.2097T>G, NM_001270546.1:c.3225T>G, NM_144767.1:c.2097T>G, NP_006729.4:p.Asp2458Glu, NP_009131.2:p.Asp2454Glu, NP_001257475.1:p.Asp1075Glu

Select item 148667890410.

rs1486678904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:85693374 (GRCh38)
15:86236605 (GRCh37)
Canonical SPDI:: NC_000015.10:85693373:C:G,NC_000015.10:85693373:C:T
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
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_000015.10:g.85693374C>G, NC_000015.10:g.85693374C>T, NC_000015.9:g.86236605C>G, NC_000015.9:g.86236605C>T, NM_006738.6:c.5399C>G, NM_006738.6:c.5399C>T, NM_006738.5:c.5399C>G, NM_006738.5:c.5399C>T, NM_007200.5:c.5387C>G, NM_007200.5:c.5387C>T, NM_007200.4:c.5387C>G, NM_007200.4:c.5387C>T, NM_144767.3:c.122C>G, NM_144767.3:c.122C>T, NM_144767.2:c.122C>G, NM_144767.2:c.122C>T, NM_001270546.1:c.1253C>G, NM_001270546.1:c.1253C>T, NM_144767.1:c.122C>G, NM_144767.1:c.122C>T, NP_006729.4:p.Ser1800Cys, NP_006729.4:p.Ser1800Phe, NP_009131.2:p.Ser1796Cys, NP_009131.2:p.Ser1796Phe, NP_001257475.1:p.Ser418Cys, NP_001257475.1:p.Ser418Phe

Select item 148612127011.

rs1486121270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:85717309 (GRCh38)
15:86260540 (GRCh37)
Canonical SPDI:: NC_000015.10:85717308:A:G
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85717309A>G, NC_000015.9:g.86260540A>G, NM_006738.6:c.5767A>G, NM_006738.5:c.5767A>G, NM_007200.5:c.5755A>G, NM_007200.4:c.5755A>G, NM_144767.3:c.490A>G, NM_144767.2:c.490A>G, NM_001270546.1:c.1618A>G, NM_144767.1:c.490A>G, NP_006729.4:p.Met1923Val, NP_009131.2:p.Met1919Val, NP_001257475.1:p.Met540Val

Select item 148572735012.

rs1485727350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:85718104 (GRCh38)
15:86261335 (GRCh37)
Canonical SPDI:: NC_000015.10:85718103:C:A
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85718104C>A, NC_000015.9:g.86261335C>A, NM_006738.6:c.5958C>A, NM_006738.5:c.5958C>A, NM_007200.5:c.5946C>A, NM_007200.4:c.5946C>A, NM_144767.3:c.681C>A, NM_144767.2:c.681C>A, NM_001270546.1:c.1809C>A, NM_144767.1:c.681C>A, NP_006729.4:p.Ser1986Arg, NP_009131.2:p.Ser1982Arg, NP_001257475.1:p.Ser603Arg

Select item 148548639313.

rs1485486393 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 15:85655498 (GRCh38)
15:86198729 (GRCh37)
Canonical SPDI:: NC_000015.10:85655493:TTCTTCT:TTCT
Gene:: AKAP13 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
HGVS:: NC_000015.10:g.85655495TCT[1], NC_000015.9:g.86198726TCT[1], NM_006738.6:c.4453TCT[1], NM_006738.5:c.4453TCT[1], NM_007200.5:c.4453TCT[1], NM_007200.4:c.4453TCT[1], NM_001270546.1:c.373TCT[1], NP_006729.4:p.Ser1486del, NP_009131.2:p.Ser1486del, NP_001257475.1:p.Ser126del

Select item 148530084614.

rs1485300846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:85721994 (GRCh38)
15:86265225 (GRCh37)
Canonical SPDI:: NC_000015.10:85721993:T:A
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85721994T>A, NC_000015.9:g.86265225T>A, NM_006738.6:c.6268T>A, NM_006738.5:c.6268T>A, NM_007200.5:c.6256T>A, NM_007200.4:c.6256T>A, NM_144767.3:c.991T>A, NM_144767.2:c.991T>A, NM_001270546.1:c.2119T>A, NM_144767.1:c.991T>A, NP_006729.4:p.Ser2090Thr, NP_009131.2:p.Ser2086Thr, NP_001257475.1:p.Ser707Thr

Select item 148466773215.

rs1484667732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:85743588 (GRCh38)
15:86286819 (GRCh37)
Canonical SPDI:: NC_000015.10:85743587:G:A,NC_000015.10:85743587:G:T
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.85743588G>A, NC_000015.10:g.85743588G>T, NC_000015.9:g.86286819G>A, NC_000015.9:g.86286819G>T, NM_006738.6:c.8167G>A, NM_006738.6:c.8167G>T, NM_006738.5:c.8167G>A, NM_006738.5:c.8167G>T, NM_007200.5:c.8155G>A, NM_007200.5:c.8155G>T, NM_007200.4:c.8155G>A, NM_007200.4:c.8155G>T, NM_144767.3:c.2890G>A, NM_144767.3:c.2890G>T, NM_144767.2:c.2890G>A, NM_144767.2:c.2890G>T, NM_001270546.1:c.4018G>A, NM_001270546.1:c.4018G>T, NM_032162.1:c.*1063G>A, NM_032162.1:c.*1063G>T, NM_144767.1:c.2890G>A, NM_144767.1:c.2890G>T, NP_006729.4:p.Gly2723Arg, NP_006729.4:p.Gly2723Trp, NP_009131.2:p.Gly2719Arg, NP_009131.2:p.Gly2719Trp, NP_001257475.1:p.Gly1340Arg, NP_001257475.1:p.Gly1340Trp

Select item 148374865616.

rs1483748656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:85718011 (GRCh38)
15:86261242 (GRCh37)
Canonical SPDI:: NC_000015.10:85718010:A:C
Gene:: AKAP13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.85718011A>C, NC_000015.9:g.86261242A>C, NM_006738.6:c.5865A>C, NM_006738.5:c.5865A>C, NM_007200.5:c.5853A>C, NM_007200.4:c.5853A>C, NM_144767.3:c.588A>C, NM_144767.2:c.588A>C, NM_001270546.1:c.1716A>C, NM_144767.1:c.588A>C

Select item 148333584717.

rs1483335847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:85743808 (GRCh38)
15:86287039 (GRCh37)
Canonical SPDI:: NC_000015.10:85743807:G:C
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.85743808G>C, NC_000015.9:g.86287039G>C, NM_006738.6:c.8387G>C, NM_006738.5:c.8387G>C, NM_007200.5:c.8375G>C, NM_007200.4:c.8375G>C, NM_144767.3:c.3110G>C, NM_144767.2:c.3110G>C, NM_001270546.1:c.4238G>C, NM_144767.1:c.3110G>C, NP_006729.4:p.Ser2796Thr, NP_009131.2:p.Ser2792Thr, NP_001257475.1:p.Ser1413Thr

Select item 148228289718.

rs1482282897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:85719287 (GRCh38)
15:86262518 (GRCh37)
Canonical SPDI:: NC_000015.10:85719286:C:G
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.85719287C>G, NC_000015.9:g.86262518C>G, NM_006738.6:c.6225C>G, NM_006738.5:c.6225C>G, NM_007200.5:c.6213C>G, NM_007200.4:c.6213C>G, NM_144767.3:c.948C>G, NM_144767.2:c.948C>G, NM_001270546.1:c.2076C>G, NM_144767.1:c.948C>G, NP_006729.4:p.Asn2075Lys, NP_009131.2:p.Asn2071Lys, NP_001257475.1:p.Asn692Lys

Select item 148209478719.

rs1482094787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:85715869 (GRCh38)
15:86259100 (GRCh37)
Canonical SPDI:: NC_000015.10:85715868:G:A,NC_000015.10:85715868:G:T
Gene:: AKAP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85715869G>A, NC_000015.10:g.85715869G>T, NC_000015.9:g.86259100G>A, NC_000015.9:g.86259100G>T, NM_006738.6:c.5693G>A, NM_006738.6:c.5693G>T, NM_006738.5:c.5693G>A, NM_006738.5:c.5693G>T, NM_007200.5:c.5681G>A, NM_007200.5:c.5681G>T, NM_007200.4:c.5681G>A, NM_007200.4:c.5681G>T, NM_144767.3:c.416G>A, NM_144767.3:c.416G>T, NM_144767.2:c.416G>A, NM_144767.2:c.416G>T, NM_001270546.1:c.1544G>A, NM_001270546.1:c.1544G>T, NM_144767.1:c.416G>A, NM_144767.1:c.416G>T, NP_006729.4:p.Arg1898Gln, NP_006729.4:p.Arg1898Leu, NP_009131.2:p.Arg1894Gln, NP_009131.2:p.Arg1894Leu, NP_001257475.1:p.Arg515Gln, NP_001257475.1:p.Arg515Leu

Select item 147866943220.

rs1478669432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:85664639 (GRCh38)
15:86207870 (GRCh37)
Canonical SPDI:: NC_000015.10:85664638:A:G
Gene:: AKAP13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.85664639A>G, NC_000015.9:g.86207870A>G, NM_006738.6:c.4888A>G, NM_006738.5:c.4888A>G, NM_007200.5:c.4876A>G, NM_007200.4:c.4876A>G, NM_001270546.1:c.742A>G, NP_006729.4:p.Asn1630Asp, NP_009131.2:p.Asn1626Asp, NP_001257475.1:p.Asn248Asp

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