SNP Links for Protein (Select 1186128530) - SNP

Links from Protein

Items: 1 to 20 of 211

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Select item 14880874071.

rs1488087407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:100329588 (GRCh38)
14:100795925 (GRCh37)
Canonical SPDI:: NC_000014.9:100329587:G:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100329588G>T, NC_000014.8:g.100795925G>T, NG_054632.1:g.11247G>T, NM_207117.4:c.870G>T, NM_207117.3:c.870G>T, NM_207117.2:c.870G>T, NM_001350877.2:c.432G>T, NM_001350877.1:c.432G>T, NP_997000.2:p.Met290Ile, NP_001337806.1:p.Met144Ile

Select item 14873440582.

rs1487344058 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:100328984 (GRCh38)
14:100795322 (GRCh37)
Canonical SPDI:: NC_000014.9:100328984:A:AA
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.100328985dup, NC_000014.8:g.100795322dup, NG_054632.1:g.10644dup, NM_207117.4:c.587dup, NM_207117.3:c.587dup, NM_207117.2:c.587dup, NM_001350877.2:c.149dup, NM_001350877.1:c.149dup, NP_997000.2:p.Tyr196Ter, NP_001337806.1:p.Tyr50Ter

Select item 14776574383.

rs1477657438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:100328851 (GRCh38)
14:100795188 (GRCh37)
Canonical SPDI:: NC_000014.9:100328850:C:G,NC_000014.9:100328850:C:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.100328851C>G, NC_000014.9:g.100328851C>T, NC_000014.8:g.100795188C>G, NC_000014.8:g.100795188C>T, NG_054632.1:g.10510C>G, NG_054632.1:g.10510C>T, NM_207117.4:c.453C>G, NM_207117.4:c.453C>T, NM_207117.3:c.453C>G, NM_207117.3:c.453C>T, NM_207117.2:c.453C>G, NM_207117.2:c.453C>T, NM_001350877.2:c.15C>G, NM_001350877.2:c.15C>T, NM_001350877.1:c.15C>G, NM_001350877.1:c.15C>T

Select item 14636324704.

rs1463632470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100329642 (GRCh38)
14:100795979 (GRCh37)
Canonical SPDI:: NC_000014.9:100329641:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100329642A>G, NC_000014.8:g.100795979A>G, NG_054632.1:g.11301A>G, NM_207117.4:c.924A>G, NM_207117.3:c.924A>G, NM_207117.2:c.924A>G, NM_001350877.2:c.486A>G, NM_001350877.1:c.486A>G

Select item 14628078455.

rs1462807845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:100329389 (GRCh38)
14:100795726 (GRCh37)
Canonical SPDI:: NC_000014.9:100329388:G:C
Gene:: SLC25A47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100329389G>C, NC_000014.8:g.100795726G>C, NG_054632.1:g.11048G>C, NM_207117.4:c.671G>C, NM_207117.3:c.671G>C, NM_207117.2:c.671G>C, NM_001350877.2:c.233G>C, NM_001350877.1:c.233G>C, NP_997000.2:p.Gly224Ala, NP_001337806.1:p.Gly78Ala

Select item 14576526626.

rs1457652662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100329453 (GRCh38)
14:100795790 (GRCh37)
Canonical SPDI:: NC_000014.9:100329452:G:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.100329453G>A, NC_000014.8:g.100795790G>A, NG_054632.1:g.11112G>A, NM_207117.4:c.735G>A, NM_207117.3:c.735G>A, NM_207117.2:c.735G>A, NM_001350877.2:c.297G>A, NM_001350877.1:c.297G>A

Select item 14570367007.

rs1457036700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100328964 (GRCh38)
14:100795301 (GRCh37)
Canonical SPDI:: NC_000014.9:100328963:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.100328964A>G, NC_000014.8:g.100795301A>G, NG_054632.1:g.10623A>G, NM_207117.4:c.566A>G, NM_207117.3:c.566A>G, NM_207117.2:c.566A>G, NM_001350877.2:c.128A>G, NM_001350877.1:c.128A>G, NP_997000.2:p.Asp189Gly, NP_001337806.1:p.Asp43Gly

Select item 14509668458.

rs1450966845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:100329635 (GRCh38)
14:100795972 (GRCh37)
Canonical SPDI:: NC_000014.9:100329634:T:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100329635T>A, NC_000014.8:g.100795972T>A, NG_054632.1:g.11294T>A, NM_207117.4:c.917T>A, NM_207117.3:c.917T>A, NM_207117.2:c.917T>A, NM_001350877.2:c.479T>A, NM_001350877.1:c.479T>A, NP_997000.2:p.Leu306Gln, NP_001337806.1:p.Leu160Gln

Select item 14508783279.

rs1450878327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100328887 (GRCh38)
14:100795224 (GRCh37)
Canonical SPDI:: NC_000014.9:100328886:G:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000014.9:g.100328887G>A, NC_000014.8:g.100795224G>A, NG_054632.1:g.10546G>A, NM_207117.4:c.489G>A, NM_207117.3:c.489G>A, NM_207117.2:c.489G>A, NM_001350877.2:c.51G>A, NM_001350877.1:c.51G>A

Select item 145058071410.

rs1450580714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:100328890 (GRCh38)
14:100795227 (GRCh37)
Canonical SPDI:: NC_000014.9:100328889:C:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100328890C>T, NC_000014.8:g.100795227C>T, NG_054632.1:g.10549C>T, NM_207117.4:c.492C>T, NM_207117.3:c.492C>T, NM_207117.2:c.492C>T, NM_001350877.2:c.54C>T, NM_001350877.1:c.54C>T

Select item 144822016111.

rs1448220161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100328981 (GRCh38)
14:100795318 (GRCh37)
Canonical SPDI:: NC_000014.9:100328980:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100328981A>G, NC_000014.8:g.100795318A>G, NG_054632.1:g.10640A>G, NM_207117.4:c.583A>G, NM_207117.3:c.583A>G, NM_207117.2:c.583A>G, NM_001350877.2:c.145A>G, NM_001350877.1:c.145A>G, NP_997000.2:p.Thr195Ala, NP_001337806.1:p.Thr49Ala

Select item 143772781712.

rs1437727817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:100329611 (GRCh38)
14:100795948 (GRCh37)
Canonical SPDI:: NC_000014.9:100329610:C:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.100329611C>A, NC_000014.8:g.100795948C>A, NG_054632.1:g.11270C>A, NM_207117.4:c.893C>A, NM_207117.3:c.893C>A, NM_207117.2:c.893C>A, NM_001350877.2:c.455C>A, NM_001350877.1:c.455C>A, NP_997000.2:p.Ala298Glu, NP_001337806.1:p.Ala152Glu

Select item 143761866613.

rs1437618666 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCG [Show Flanks]
Chromosome:: 14:100328875 (GRCh38)
14:100795213 (GRCh37)
Canonical SPDI:: NC_000014.9:100328875:CG:CGGCG
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by cluster
MAF:: CGG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100328877_100328878insGCG, NC_000014.8:g.100795214_100795215insGCG, NG_054632.1:g.10536_10537insGCG, NM_207117.4:c.479_480insGCG, NM_207117.3:c.479_480insGCG, NM_207117.2:c.479_480insGCG, NM_001350877.2:c.41_42insGCG, NM_001350877.1:c.41_42insGCG, NP_997000.2:p.Arg160dup, NP_001337806.1:p.Arg14dup

Select item 143595027814.

rs1435950278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100329395 (GRCh38)
14:100795732 (GRCh37)
Canonical SPDI:: NC_000014.9:100329394:G:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100329395G>A, NC_000014.8:g.100795732G>A, NG_054632.1:g.11054G>A, NM_207117.4:c.677G>A, NM_207117.3:c.677G>A, NM_207117.2:c.677G>A, NM_001350877.2:c.239G>A, NM_001350877.1:c.239G>A, NP_997000.2:p.Cys226Tyr, NP_001337806.1:p.Cys80Tyr

Select item 143493428815.

rs1434934288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:100328920 (GRCh38)
14:100795257 (GRCh37)
Canonical SPDI:: NC_000014.9:100328919:G:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100328920G>T, NC_000014.8:g.100795257G>T, NG_054632.1:g.10579G>T, NM_207117.4:c.522G>T, NM_207117.3:c.522G>T, NM_207117.2:c.522G>T, NM_001350877.2:c.84G>T, NM_001350877.1:c.84G>T

Select item 143443353816.

rs1434433538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:100329455 (GRCh38)
14:100795792 (GRCh37)
Canonical SPDI:: NC_000014.9:100329454:A:C
Gene:: SLC25A47 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100329455A>C, NC_000014.8:g.100795792A>C, NG_054632.1:g.11114A>C, NM_207117.4:c.737A>C, NM_207117.3:c.737A>C, NM_207117.2:c.737A>C, NM_001350877.2:c.299A>C, NM_001350877.1:c.299A>C, NP_997000.2:p.Gln246Pro, NP_001337806.1:p.Gln100Pro

Select item 143179980417.

rs1431799804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100328871 (GRCh38)
14:100795208 (GRCh37)
Canonical SPDI:: NC_000014.9:100328870:A:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100328871A>G, NC_000014.8:g.100795208A>G, NG_054632.1:g.10530A>G, NM_207117.4:c.473A>G, NM_207117.3:c.473A>G, NM_207117.2:c.473A>G, NM_001350877.2:c.35A>G, NM_001350877.1:c.35A>G, NP_997000.2:p.Lys158Arg, NP_001337806.1:p.Lys12Arg

Select item 142935725718.

rs1429357257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:100328956 (GRCh38)
14:100795293 (GRCh37)
Canonical SPDI:: NC_000014.9:100328955:C:G
Gene:: SLC25A47 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.100328956C>G, NC_000014.8:g.100795293C>G, NG_054632.1:g.10615C>G, NM_207117.4:c.558C>G, NM_207117.3:c.558C>G, NM_207117.2:c.558C>G, NM_001350877.2:c.120C>G, NM_001350877.1:c.120C>G

Select item 142294252919.

rs1422942529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:100329518 (GRCh38)
14:100795855 (GRCh37)
Canonical SPDI:: NC_000014.9:100329517:G:A,NC_000014.9:100329517:G:C,NC_000014.9:100329517:G:T
Gene:: SLC25A47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.100329518G>A, NC_000014.9:g.100329518G>C, NC_000014.9:g.100329518G>T, NC_000014.8:g.100795855G>A, NC_000014.8:g.100795855G>C, NC_000014.8:g.100795855G>T, NG_054632.1:g.11177G>A, NG_054632.1:g.11177G>C, NG_054632.1:g.11177G>T, NM_207117.4:c.800G>A, NM_207117.4:c.800G>C, NM_207117.4:c.800G>T, NM_207117.3:c.800G>A, NM_207117.3:c.800G>C, NM_207117.3:c.800G>T, NM_207117.2:c.800G>A, NM_207117.2:c.800G>C, NM_207117.2:c.800G>T, NM_001350877.2:c.362G>A, NM_001350877.2:c.362G>C, NM_001350877.2:c.362G>T, NM_001350877.1:c.362G>A, NM_001350877.1:c.362G>C, NM_001350877.1:c.362G>T, NP_997000.2:p.Arg267Gln, NP_997000.2:p.Arg267Pro, NP_997000.2:p.Arg267Leu, NP_001337806.1:p.Arg121Gln, NP_001337806.1:p.Arg121Pro, NP_001337806.1:p.Arg121Leu

Select item 141487675920.

rs1414876759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100329015 (GRCh38)
14:100795352 (GRCh37)
Canonical SPDI:: NC_000014.9:100329014:G:A
Gene:: SLC25A47 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100329015G>A, NC_000014.8:g.100795352G>A, NG_054632.1:g.10674G>A, NM_207117.4:c.617G>A, NM_207117.3:c.617G>A, NM_207117.2:c.617G>A, NM_001350877.2:c.179G>A, NM_001350877.1:c.179G>A, NP_997000.2:p.Trp206Ter, NP_001337806.1:p.Trp60Ter

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