SNP Links for Protein (Select 111955063) - SNP

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Links from Protein

Items: 1 to 20 of 307

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Select item 14863814721.

rs1486381472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:90377508 (GRCh38)
7:90006822 (GRCh37)
Canonical SPDI:: NC_000007.14:90377507:T:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.90377508T>C, NC_000007.13:g.90006822T>C, NM_033107.4:c.593T>C, NM_033107.3:c.593T>C, NM_001042717.3:c.356T>C, NM_001042717.2:c.356T>C, NP_149098.2:p.Ile198Thr, NP_001036182.1:p.Ile119Thr

Select item 14851615192.

rs1485161519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:90385038 (GRCh38)
7:90014352 (GRCh37)
Canonical SPDI:: NC_000007.14:90385037:G:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.90385038G>C, NC_000007.13:g.90014352G>C, NM_033107.4:c.1048G>C, NM_033107.3:c.1048G>C, NM_001042717.3:c.811G>C, NM_001042717.2:c.811G>C, NP_149098.2:p.Glu350Gln, NP_001036182.1:p.Glu271Gln

Select item 14829191993.

rs1482919199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:90374339 (GRCh38)
7:90003653 (GRCh37)
Canonical SPDI:: NC_000007.14:90374338:C:T
Gene:: GTPBP10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.90374339C>T, NC_000007.13:g.90003653C>T, NM_033107.4:c.576C>T, NM_033107.3:c.576C>T, NM_001042717.3:c.339C>T, NM_001042717.2:c.339C>T

Select item 14799463164.

rs1479946316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:90378177 (GRCh38)
7:90007491 (GRCh37)
Canonical SPDI:: NC_000007.14:90378176:G:A
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.90378177G>A, NC_000007.13:g.90007491G>A, NM_033107.4:c.743G>A, NM_033107.3:c.743G>A, NM_001042717.3:c.506G>A, NM_001042717.2:c.506G>A, NP_149098.2:p.Arg248Lys, NP_001036182.1:p.Arg169Lys

Select item 14795853275.

rs1479585327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:90384960 (GRCh38)
7:90014274 (GRCh37)
Canonical SPDI:: NC_000007.14:90384959:A:C,NC_000007.14:90384959:A:G
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.90384960A>C, NC_000007.14:g.90384960A>G, NC_000007.13:g.90014274A>C, NC_000007.13:g.90014274A>G, NM_033107.4:c.970A>C, NM_033107.4:c.970A>G, NM_033107.3:c.970A>C, NM_033107.3:c.970A>G, NM_001042717.3:c.733A>C, NM_001042717.3:c.733A>G, NM_001042717.2:c.733A>C, NM_001042717.2:c.733A>G, NP_149098.2:p.Ile324Leu, NP_149098.2:p.Ile324Val, NP_001036182.1:p.Ile245Leu, NP_001036182.1:p.Ile245Val

Select item 14770439626.

rs1477043962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:90346756 (GRCh38)
7:89976070 (GRCh37)
Canonical SPDI:: NC_000007.14:90346755:T:A
Gene:: GTPBP10 (Varview), LOC107986715 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.90346756T>A, NC_000007.13:g.89976070T>A, NM_033107.4:c.15T>A, NM_033107.3:c.15T>A, NM_001042717.3:c.15T>A, NM_001042717.2:c.15T>A, NP_149098.2:p.Ser5Arg, NP_001036182.1:p.Ser5Arg

Select item 14747651667.

rs1474765166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:90382992 (GRCh38)
7:90012306 (GRCh37)
Canonical SPDI:: NC_000007.14:90382991:C:T
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.90382992C>T, NC_000007.13:g.90012306C>T, NM_033107.4:c.814C>T, NM_033107.3:c.814C>T, NM_001042717.3:c.577C>T, NM_001042717.2:c.577C>T, NP_149098.2:p.Pro272Ser, NP_001036182.1:p.Pro193Ser

Select item 14698314718.

rs1469831471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:90378206 (GRCh38)
7:90007520 (GRCh37)
Canonical SPDI:: NC_000007.14:90378205:A:G
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.90378206A>G, NC_000007.13:g.90007520A>G, NM_033107.4:c.772A>G, NM_033107.3:c.772A>G, NM_001042717.3:c.535A>G, NM_001042717.2:c.535A>G, NP_149098.2:p.Thr258Ala, NP_001036182.1:p.Thr179Ala

Select item 14654345139.

rs1465434513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:90385150 (GRCh38)
7:90014464 (GRCh37)
Canonical SPDI:: NC_000007.14:90385149:T:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.90385150T>C, NC_000007.13:g.90014464T>C, NM_033107.4:c.1160T>C, NM_033107.3:c.1160T>C, NM_001042717.3:c.923T>C, NM_001042717.2:c.923T>C, NP_149098.2:p.Ile387Thr, NP_001036182.1:p.Ile308Thr

Select item 146258116010.

rs1462581160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:90384996 (GRCh38)
7:90014310 (GRCh37)
Canonical SPDI:: NC_000007.14:90384995:A:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.90384996A>C, NC_000007.13:g.90014310A>C, NM_033107.4:c.1006A>C, NM_033107.3:c.1006A>C, NM_001042717.3:c.769A>C, NM_001042717.2:c.769A>C, NP_149098.2:p.Lys336Gln, NP_001036182.1:p.Lys257Gln

Select item 146198060011.

rs1461980600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:90384915 (GRCh38)
7:90014229 (GRCh37)
Canonical SPDI:: NC_000007.14:90384914:A:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.90384915A>C, NC_000007.13:g.90014229A>C, NM_033107.4:c.925A>C, NM_033107.3:c.925A>C, NM_001042717.3:c.688A>C, NM_001042717.2:c.688A>C, NP_149098.2:p.Asn309His, NP_001036182.1:p.Asn230His

Select item 145499731412.

rs1454997314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:90374304 (GRCh38)
7:90003618 (GRCh37)
Canonical SPDI:: NC_000007.14:90374303:A:G
Gene:: GTPBP10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000007.14:g.90374304A>G, NC_000007.13:g.90003618A>G, NM_033107.4:c.541A>G, NM_033107.3:c.541A>G, NM_001042717.3:c.304A>G, NM_001042717.2:c.304A>G, NP_149098.2:p.Thr181Ala, NP_001036182.1:p.Thr102Ala

Select item 145460065713.

rs1454600657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:90352893 (GRCh38)
7:89982207 (GRCh37)
Canonical SPDI:: NC_000007.14:90352892:A:C,NC_000007.14:90352892:A:G
Gene:: GTPBP10 (Varview), LOC107986715 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.90352893A>C, NC_000007.14:g.90352893A>G, NC_000007.13:g.89982207A>C, NC_000007.13:g.89982207A>G, NM_033107.4:c.111A>C, NM_033107.4:c.111A>G, NM_033107.3:c.111A>C, NM_033107.3:c.111A>G, NM_001042717.3:c.111A>C, NM_001042717.3:c.111A>G, NM_001042717.2:c.111A>C, NM_001042717.2:c.111A>G

Select item 145335178714.

rs1453351787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:90385080 (GRCh38)
7:90014394 (GRCh37)
Canonical SPDI:: NC_000007.14:90385079:A:G
Gene:: GTPBP10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.90385080A>G, NC_000007.13:g.90014394A>G, NM_033107.4:c.1090A>G, NM_033107.3:c.1090A>G, NM_001042717.3:c.853A>G, NM_001042717.2:c.853A>G, NP_149098.2:p.Ile364Val, NP_001036182.1:p.Ile285Val

Select item 144599798515.

rs1445997985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:90385012 (GRCh38)
7:90014326 (GRCh37)
Canonical SPDI:: NC_000007.14:90385011:A:G
Gene:: GTPBP10 (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=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.90385012A>G, NC_000007.13:g.90014326A>G, NM_033107.4:c.1022A>G, NM_033107.3:c.1022A>G, NM_001042717.3:c.785A>G, NM_001042717.2:c.785A>G, NP_149098.2:p.Lys341Arg, NP_001036182.1:p.Lys262Arg

Select item 144344370116.

rs1443443701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:90384919 (GRCh38)
7:90014233 (GRCh37)
Canonical SPDI:: NC_000007.14:90384918:T:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: 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_000007.14:g.90384919T>C, NC_000007.13:g.90014233T>C, NM_033107.4:c.929T>C, NM_033107.3:c.929T>C, NM_001042717.3:c.692T>C, NM_001042717.2:c.692T>C, NP_149098.2:p.Met310Thr, NP_001036182.1:p.Met231Thr

Select item 144314564817.

rs1443145648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:90346746 (GRCh38)
7:89976060 (GRCh37)
Canonical SPDI:: NC_000007.14:90346745:T:G
Gene:: GTPBP10 (Varview), LOC107986715 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.90346746T>G, NC_000007.13:g.89976060T>G, NM_033107.4:c.5T>G, NM_033107.3:c.5T>G, NM_001042717.3:c.5T>G, NM_001042717.2:c.5T>G, NP_149098.2:p.Val2Gly, NP_001036182.1:p.Val2Gly

Select item 143902075618.

rs1439020756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:90383006 (GRCh38)
7:90012320 (GRCh37)
Canonical SPDI:: NC_000007.14:90383005:A:C
Gene:: GTPBP10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.90383006A>C, NC_000007.13:g.90012320A>C, NM_033107.4:c.828A>C, NM_033107.3:c.828A>C, NM_001042717.3:c.591A>C, NM_001042717.2:c.591A>C

Select item 143833263719.

rs1438332637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:90374336 (GRCh38)
7:90003650 (GRCh37)
Canonical SPDI:: NC_000007.14:90374335:G:A
Gene:: GTPBP10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.90374336G>A, NC_000007.13:g.90003650G>A, NM_033107.4:c.573G>A, NM_033107.3:c.573G>A, NM_001042717.3:c.336G>A, NM_001042717.2:c.336G>A, NP_149098.2:p.Met191Ile, NP_001036182.1:p.Met112Ile

Select item 143006388120.

rs1430063881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:90384962 (GRCh38)
7:90014276 (GRCh37)
Canonical SPDI:: NC_000007.14:90384961:A:G
Gene:: GTPBP10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.90384962A>G, NC_000007.13:g.90014276A>G, NM_033107.4:c.972A>G, NM_033107.3:c.972A>G, NM_001042717.3:c.735A>G, NM_001042717.2:c.735A>G, NP_149098.2:p.Ile324Met, NP_001036182.1:p.Ile245Met

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