SNP Links for Protein (Select 7657058) - SNP

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Links from Protein

Items: 1 to 20 of 327

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Select item 14898125221.

rs1489812522 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 14:75003311 (GRCh38)
14:75470014 (GRCh37)
Canonical SPDI:: NC_000014.9:75003306:AGGAGGA:AGGA
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75003308GGA[1], NC_000014.8:g.75470011GGA[1], NG_013333.1:g.5400GGA[1], NM_014239.3:c.197GGA[1], NM_014239.4:c.197GGA[1], NP_055054.1:p.Arg67del

Select item 14888810882.

rs1488881088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:75005918 (GRCh38)
14:75472621 (GRCh37)
Canonical SPDI:: NC_000014.9:75005917:T:C
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75005918T>C, NC_000014.8:g.75472621T>C, NG_013333.1:g.8010T>C, NM_014239.3:c.650T>C, NM_014239.4:c.650T>C, NP_055054.1:p.Met217Thr

Select item 14851909503.

rs1485190950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75003104 (GRCh38)
14:75469807 (GRCh37)
Canonical SPDI:: NC_000014.9:75003103:C:T
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000014.9:g.75003104C>T, NC_000014.8:g.75469807C>T, NG_013333.1:g.5196C>T, NM_014239.3:c.114C>T, NM_014239.4:c.114C>T

Select item 14801909444.

rs1480190944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75004900 (GRCh38)
14:75471603 (GRCh37)
Canonical SPDI:: NC_000014.9:75004899:G:C
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.75004900G>C, NC_000014.8:g.75471603G>C, NG_013333.1:g.6992G>C, NM_014239.3:c.597G>C, NM_014239.4:c.597G>C, NP_055054.1:p.Gln199His

Select item 14783561275.

rs1478356127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:75003311 (GRCh38)
14:75470014 (GRCh37)
Canonical SPDI:: NC_000014.9:75003310:G:A,NC_000014.9:75003310:G:T
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000062/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75003311G>A, NC_000014.9:g.75003311G>T, NC_000014.8:g.75470014G>A, NC_000014.8:g.75470014G>T, NG_013333.1:g.5403G>A, NG_013333.1:g.5403G>T, NM_014239.3:c.200G>A, NM_014239.3:c.200G>T, NM_014239.4:c.200G>A, NM_014239.4:c.200G>T, NP_055054.1:p.Arg67Lys, NP_055054.1:p.Arg67Met

Select item 14737646196.

rs1473764619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:75003657 (GRCh38)
14:75470360 (GRCh37)
Canonical SPDI:: NC_000014.9:75003656:T:C
Gene:: EIF2B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.75003657T>C, NC_000014.8:g.75470360T>C, NG_013333.1:g.5749T>C, NM_014239.3:c.391T>C, NM_014239.4:c.391T>C, NP_055054.1:p.Ser131Pro

Select item 14658228097.

rs1465822809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75007788 (GRCh38)
14:75474491 (GRCh37)
Canonical SPDI:: NC_000014.9:75007787:G:C
Gene:: EIF2B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.75007788G>C, NC_000014.8:g.75474491G>C, NG_013333.1:g.9880G>C, NM_014239.3:c.898G>C, NM_014239.4:c.898G>C, NP_055054.1:p.Gly300Arg

Select item 14603606448.

rs1460360644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:75005903 (GRCh38)
14:75472606 (GRCh37)
Canonical SPDI:: NC_000014.9:75005902:T:C
Gene:: EIF2B2 (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_000014.9:g.75005903T>C, NC_000014.8:g.75472606T>C, NG_013333.1:g.7995T>C, NM_014239.3:c.635T>C, NM_014239.4:c.635T>C, NP_055054.1:p.Ile212Thr

Select item 14559466789.

rs1455946678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75009117 (GRCh38)
14:75475820 (GRCh37)
Canonical SPDI:: NC_000014.9:75009116:G:C
Gene:: EIF2B2 (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=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.75009117G>C, NC_000014.8:g.75475820G>C, NG_013333.1:g.11209G>C, NM_014239.3:c.985G>C, NM_014239.4:c.985G>C, NP_055054.1:p.Gly329Arg

Select item 145166118310.

rs1451661183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:75004813 (GRCh38)
14:75471516 (GRCh37)
Canonical SPDI:: NC_000014.9:75004812:C:A,NC_000014.9:75004812:C:T
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.004367/8 (Korea1K)
HGVS:: NC_000014.9:g.75004813C>A, NC_000014.9:g.75004813C>T, NC_000014.8:g.75471516C>A, NC_000014.8:g.75471516C>T, NG_013333.1:g.6905C>A, NG_013333.1:g.6905C>T, NM_014239.3:c.510C>A, NM_014239.3:c.510C>T, NM_014239.4:c.510C>A, NM_014239.4:c.510C>T, NP_055054.1:p.Phe170Leu

Select item 143976686411.

rs1439766864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:75003571 (GRCh38)
14:75470274 (GRCh37)
Canonical SPDI:: NC_000014.9:75003570:A:C
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75003571A>C, NC_000014.8:g.75470274A>C, NG_013333.1:g.5663A>C, NM_014239.3:c.305A>C, NM_014239.4:c.305A>C, NP_055054.1:p.Glu102Ala

Select item 143709937712.

rs1437099377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75003683 (GRCh38)
14:75470386 (GRCh37)
Canonical SPDI:: NC_000014.9:75003682:G:C
Gene:: EIF2B2 (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.75003683G>C, NC_000014.8:g.75470386G>C, NG_013333.1:g.5775G>C, NM_014239.3:c.417G>C, NM_014239.4:c.417G>C, NP_055054.1:p.Glu139Asp

Select item 143396168713.

rs1433961687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:75009128 (GRCh38)
14:75475831 (GRCh37)
Canonical SPDI:: NC_000014.9:75009127:A:G
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75009128A>G, NC_000014.8:g.75475831A>G, NG_013333.1:g.11220A>G, NM_014239.3:c.996A>G, NM_014239.4:c.996A>G

Select item 143049298214.

rs1430492982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75003318 (GRCh38)
14:75470021 (GRCh37)
Canonical SPDI:: NC_000014.9:75003317:G:A
Gene:: EIF2B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75003318G>A, NC_000014.8:g.75470021G>A, NG_013333.1:g.5410G>A, NM_014239.3:c.207G>A, NM_014239.4:c.207G>A

Select item 142942290615.

rs1429422906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75005955 (GRCh38)
14:75472658 (GRCh37)
Canonical SPDI:: NC_000014.9:75005954:C:T
Gene:: EIF2B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75005955C>T, NC_000014.8:g.75472658C>T, NG_013333.1:g.8047C>T, NM_014239.3:c.687C>T, NM_014239.4:c.687C>T

Select item 142657832416.

rs1426578324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75003634 (GRCh38)
14:75470337 (GRCh37)
Canonical SPDI:: NC_000014.9:75003633:G:C
Gene:: EIF2B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75003634G>C, NC_000014.8:g.75470337G>C, NG_013333.1:g.5726G>C, NM_014239.3:c.368G>C, NM_014239.4:c.368G>C, NP_055054.1:p.Ser123Thr

Select item 142111637517.

rs1421116375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:75007778 (GRCh38)
14:75474481 (GRCh37)
Canonical SPDI:: NC_000014.9:75007777:A:G
Gene:: EIF2B2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75007778A>G, NC_000014.8:g.75474481A>G, NG_013333.1:g.9870A>G, NM_014239.3:c.888A>G, NM_014239.4:c.888A>G

Select item 141278331518.

rs1412783315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:75004891 (GRCh38)
14:75471594 (GRCh37)
Canonical SPDI:: NC_000014.9:75004890:T:G
Gene:: EIF2B2 (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75004891T>G, NC_000014.8:g.75471594T>G, NG_013333.1:g.6983T>G, NM_014239.3:c.588T>G, NM_014239.4:c.588T>G

Select item 141108529419.

rs1411085294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:75009047 (GRCh38)
14:75475750 (GRCh37)
Canonical SPDI:: NC_000014.9:75009046:G:A,NC_000014.9:75009046:G:T
Gene:: EIF2B2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75009047G>A, NC_000014.9:g.75009047G>T, NC_000014.8:g.75475750G>A, NC_000014.8:g.75475750G>T, NG_013333.1:g.11139G>A, NG_013333.1:g.11139G>T, NM_014239.3:c.915G>A, NM_014239.3:c.915G>T, NM_014239.4:c.915G>A, NM_014239.4:c.915G>T, NP_055054.1:p.Lys305Asn

Select item 141004927020.

rs1410049270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75003063 (GRCh38)
14:75469766 (GRCh37)
Canonical SPDI:: NC_000014.9:75003062:G:A
Gene:: EIF2B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.75003063G>A, NC_000014.8:g.75469766G>A, NG_013333.1:g.5155G>A, NM_014239.3:c.73G>A, NM_014239.4:c.73G>A, NP_055054.1:p.Gly25Ser

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