SNP Links for Protein (Select 56117852) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 533

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Select item 14900764891.

rs1490076489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:114737555 (GRCh38)
1:115280176 (GRCh37)
Canonical SPDI:: NC_000001.11:114737554:G:A
Gene:: CSDE1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.114737555G>A, NC_000001.10:g.115280176G>A, NM_001007553.3:c.318C>T, NM_001007553.2:c.318C>T, NM_001242891.2:c.456C>T, NM_001242891.1:c.456C>T, NM_001242892.2:c.318C>T, NM_001242892.1:c.318C>T

Select item 14888443712.

rs1488844371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114720608 (GRCh38)
1:115263229 (GRCh37)
Canonical SPDI:: NC_000001.11:114720607:T:C
Gene:: CSDE1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114720608T>C, NC_000001.10:g.115263229T>C, NG_007572.1:g.1287A>G, NM_007158.6:c.1890A>G, NM_007158.5:c.1890A>G, NM_001130523.3:c.2028A>G, NM_001130523.2:c.2028A>G, NM_001007553.3:c.1983A>G, NM_001007553.2:c.1983A>G, NM_001242891.2:c.2121A>G, NM_001242891.1:c.2121A>G, NM_001242892.2:c.1983A>G, NM_001242892.1:c.1983A>G, NM_001242893.2:c.1890A>G, NM_001242893.1:c.1890A>G

Select item 14881228993.

rs1488122899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:114718619 (GRCh38)
1:115261240 (GRCh37)
Canonical SPDI:: NC_000001.11:114718618:G:A
Gene:: NRAS (Varview), CSDE1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.114718619G>A, NC_000001.10:g.115261240G>A, NG_007572.1:g.3276C>T, NM_007158.6:c.2250C>T, NM_007158.5:c.2250C>T, NM_001130523.3:c.2388C>T, NM_001130523.2:c.2388C>T, NM_001007553.3:c.2343C>T, NM_001007553.2:c.2343C>T, NM_001242891.2:c.2481C>T, NM_001242891.1:c.2481C>T, NM_001242892.2:c.2343C>T, NM_001242892.1:c.2343C>T, NM_001242893.2:c.2250C>T, NM_001242893.1:c.2250C>T

Select item 14870861344.

rs1487086134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:114733830 (GRCh38)
1:115276451 (GRCh37)
Canonical SPDI:: NC_000001.11:114733829:G:C
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.114733830G>C, NC_000001.10:g.115276451G>C, NM_007158.6:c.646C>G, NM_007158.5:c.646C>G, NM_001130523.3:c.784C>G, NM_001130523.2:c.784C>G, NM_001007553.3:c.739C>G, NM_001007553.2:c.739C>G, NM_001242891.2:c.877C>G, NM_001242891.1:c.877C>G, NM_001242892.2:c.739C>G, NM_001242892.1:c.739C>G, NM_001242893.2:c.646C>G, NM_001242893.1:c.646C>G, NP_009089.4:p.Leu216Val, NP_001123995.1:p.Leu262Val, NP_001007554.1:p.Leu247Val, NP_001229820.1:p.Leu293Val, NP_001229821.1:p.Leu247Val, NP_001229822.1:p.Leu216Val

Select item 14864786455.

rs1486478645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:114723892 (GRCh38)
1:115266513 (GRCh37)
Canonical SPDI:: NC_000001.11:114723891:C:A
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114723892C>A, NC_000001.10:g.115266513C>A, NM_007158.6:c.1771G>T, NM_007158.5:c.1771G>T, NM_001130523.3:c.1909G>T, NM_001130523.2:c.1909G>T, NM_001007553.3:c.1864G>T, NM_001007553.2:c.1864G>T, NM_001242891.2:c.2002G>T, NM_001242891.1:c.2002G>T, NM_001242892.2:c.1864G>T, NM_001242892.1:c.1864G>T, NM_001242893.2:c.1771G>T, NM_001242893.1:c.1771G>T, NP_009089.4:p.Val591Leu, NP_001123995.1:p.Val637Leu, NP_001007554.1:p.Val622Leu, NP_001229820.1:p.Val668Leu, NP_001229821.1:p.Val622Leu, NP_001229822.1:p.Val591Leu

Select item 14864248386.

rs1486424838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:114726344 (GRCh38)
1:115268965 (GRCh37)
Canonical SPDI:: NC_000001.11:114726343:C:A
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.114726344C>A, NC_000001.10:g.115268965C>A, NM_007158.6:c.1414G>T, NM_007158.5:c.1414G>T, NM_001130523.3:c.1552G>T, NM_001130523.2:c.1552G>T, NM_001007553.3:c.1507G>T, NM_001007553.2:c.1507G>T, NM_001242891.2:c.1645G>T, NM_001242891.1:c.1645G>T, NM_001242892.2:c.1507G>T, NM_001242892.1:c.1507G>T, NM_001242893.2:c.1414G>T, NM_001242893.1:c.1414G>T, NP_009089.4:p.Val472Phe, NP_001123995.1:p.Val518Phe, NP_001007554.1:p.Val503Phe, NP_001229820.1:p.Val549Phe, NP_001229821.1:p.Val503Phe, NP_001229822.1:p.Val472Phe

Select item 14847902347.

rs1484790234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:114726306 (GRCh38)
1:115268927 (GRCh37)
Canonical SPDI:: NC_000001.11:114726305:G:A,NC_000001.11:114726305:G:T
Gene:: CSDE1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.114726306G>A, NC_000001.11:g.114726306G>T, NC_000001.10:g.115268927G>A, NC_000001.10:g.115268927G>T, NM_007158.6:c.1452C>T, NM_007158.6:c.1452C>A, NM_007158.5:c.1452C>T, NM_007158.5:c.1452C>A, NM_001130523.3:c.1590C>T, NM_001130523.3:c.1590C>A, NM_001130523.2:c.1590C>T, NM_001130523.2:c.1590C>A, NM_001007553.3:c.1545C>T, NM_001007553.3:c.1545C>A, NM_001007553.2:c.1545C>T, NM_001007553.2:c.1545C>A, NM_001242891.2:c.1683C>T, NM_001242891.2:c.1683C>A, NM_001242891.1:c.1683C>T, NM_001242891.1:c.1683C>A, NM_001242892.2:c.1545C>T, NM_001242892.2:c.1545C>A, NM_001242892.1:c.1545C>T, NM_001242892.1:c.1545C>A, NM_001242893.2:c.1452C>T, NM_001242893.2:c.1452C>A, NM_001242893.1:c.1452C>T, NM_001242893.1:c.1452C>A, NP_009089.4:p.Asn484Lys, NP_001123995.1:p.Asn530Lys, NP_001007554.1:p.Asn515Lys, NP_001229820.1:p.Asn561Lys, NP_001229821.1:p.Asn515Lys, NP_001229822.1:p.Asn484Lys

Select item 14832526238.

rs1483252623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114718666 (GRCh38)
1:115261287 (GRCh37)
Canonical SPDI:: NC_000001.11:114718665:T:C
Gene:: NRAS (Varview), CSDE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114718666T>C, NC_000001.10:g.115261287T>C, NG_007572.1:g.3229A>G, NM_007158.6:c.2203A>G, NM_007158.5:c.2203A>G, NM_001130523.3:c.2341A>G, NM_001130523.2:c.2341A>G, NM_001007553.3:c.2296A>G, NM_001007553.2:c.2296A>G, NM_001242891.2:c.2434A>G, NM_001242891.1:c.2434A>G, NM_001242892.2:c.2296A>G, NM_001242892.1:c.2296A>G, NM_001242893.2:c.2203A>G, NM_001242893.1:c.2203A>G, NP_009089.4:p.Ser735Gly, NP_001123995.1:p.Ser781Gly, NP_001007554.1:p.Ser766Gly, NP_001229820.1:p.Ser812Gly, NP_001229821.1:p.Ser766Gly, NP_001229822.1:p.Ser735Gly

Select item 14831501159.

rs1483150115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:114724002 (GRCh38)
1:115266623 (GRCh37)
Canonical SPDI:: NC_000001.11:114724001:A:C
Gene:: CSDE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114724002A>C, NC_000001.10:g.115266623A>C, NM_007158.6:c.1661T>G, NM_007158.5:c.1661T>G, NM_001130523.3:c.1799T>G, NM_001130523.2:c.1799T>G, NM_001007553.3:c.1754T>G, NM_001007553.2:c.1754T>G, NM_001242891.2:c.1892T>G, NM_001242891.1:c.1892T>G, NM_001242892.2:c.1754T>G, NM_001242892.1:c.1754T>G, NM_001242893.2:c.1661T>G, NM_001242893.1:c.1661T>G, NP_009089.4:p.Val554Gly, NP_001123995.1:p.Val600Gly, NP_001007554.1:p.Val585Gly, NP_001229820.1:p.Val631Gly, NP_001229821.1:p.Val585Gly, NP_001229822.1:p.Val554Gly

Select item 147864105610.

rs1478641056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:114733763 (GRCh38)
1:115276384 (GRCh37)
Canonical SPDI:: NC_000001.11:114733762:T:A,NC_000001.11:114733762:T:C
Gene:: CSDE1 (Varview)
Functional Consequence:: coding_sequence_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_000001.11:g.114733763T>A, NC_000001.11:g.114733763T>C, NC_000001.10:g.115276384T>A, NC_000001.10:g.115276384T>C, NM_007158.6:c.713A>T, NM_007158.6:c.713A>G, NM_007158.5:c.713A>T, NM_007158.5:c.713A>G, NM_001130523.3:c.851A>T, NM_001130523.3:c.851A>G, NM_001130523.2:c.851A>T, NM_001130523.2:c.851A>G, NM_001007553.3:c.806A>T, NM_001007553.3:c.806A>G, NM_001007553.2:c.806A>T, NM_001007553.2:c.806A>G, NM_001242891.2:c.944A>T, NM_001242891.2:c.944A>G, NM_001242891.1:c.944A>T, NM_001242891.1:c.944A>G, NM_001242892.2:c.806A>T, NM_001242892.2:c.806A>G, NM_001242892.1:c.806A>T, NM_001242892.1:c.806A>G, NM_001242893.2:c.713A>T, NM_001242893.2:c.713A>G, NM_001242893.1:c.713A>T, NM_001242893.1:c.713A>G, NP_009089.4:p.Lys238Ile, NP_009089.4:p.Lys238Arg, NP_001123995.1:p.Lys284Ile, NP_001123995.1:p.Lys284Arg, NP_001007554.1:p.Lys269Ile, NP_001007554.1:p.Lys269Arg, NP_001229820.1:p.Lys315Ile, NP_001229820.1:p.Lys315Arg, NP_001229821.1:p.Lys269Ile, NP_001229821.1:p.Lys269Arg, NP_001229822.1:p.Lys238Ile, NP_001229822.1:p.Lys238Arg

Select item 147814944911.

rs1478149449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:114739806 (GRCh38)
1:115282427 (GRCh37)
Canonical SPDI:: NC_000001.11:114739805:C:T
Gene:: CSDE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114739806C>T, NC_000001.10:g.115282427C>T, NM_007158.6:c.85G>A, NM_007158.5:c.85G>A, NM_001130523.3:c.223G>A, NM_001130523.2:c.223G>A, NM_001007553.3:c.85G>A, NM_001007553.2:c.85G>A, NM_001242891.2:c.223G>A, NM_001242891.1:c.223G>A, NM_001242892.2:c.85G>A, NM_001242892.1:c.85G>A, NM_001242893.2:c.85G>A, NM_001242893.1:c.85G>A, NP_009089.4:p.Val29Ile, NP_001123995.1:p.Val75Ile, NP_001007554.1:p.Val29Ile, NP_001229820.1:p.Val75Ile, NP_001229821.1:p.Val29Ile, NP_001229822.1:p.Val29Ile

Select item 147656660112.

rs1476566601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:114733754 (GRCh38)
1:115276375 (GRCh37)
Canonical SPDI:: NC_000001.11:114733753:G:A,NC_000001.11:114733753:G:T
Gene:: CSDE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.114733754G>A, NC_000001.11:g.114733754G>T, NC_000001.10:g.115276375G>A, NC_000001.10:g.115276375G>T, NM_007158.6:c.722C>T, NM_007158.6:c.722C>A, NM_007158.5:c.722C>T, NM_007158.5:c.722C>A, NM_001130523.3:c.860C>T, NM_001130523.3:c.860C>A, NM_001130523.2:c.860C>T, NM_001130523.2:c.860C>A, NM_001007553.3:c.815C>T, NM_001007553.3:c.815C>A, NM_001007553.2:c.815C>T, NM_001007553.2:c.815C>A, NM_001242891.2:c.953C>T, NM_001242891.2:c.953C>A, NM_001242891.1:c.953C>T, NM_001242891.1:c.953C>A, NM_001242892.2:c.815C>T, NM_001242892.2:c.815C>A, NM_001242892.1:c.815C>T, NM_001242892.1:c.815C>A, NM_001242893.2:c.722C>T, NM_001242893.2:c.722C>A, NM_001242893.1:c.722C>T, NM_001242893.1:c.722C>A, NP_009089.4:p.Pro241Leu, NP_009089.4:p.Pro241Gln, NP_001123995.1:p.Pro287Leu, NP_001123995.1:p.Pro287Gln, NP_001007554.1:p.Pro272Leu, NP_001007554.1:p.Pro272Gln, NP_001229820.1:p.Pro318Leu, NP_001229820.1:p.Pro318Gln, NP_001229821.1:p.Pro272Leu, NP_001229821.1:p.Pro272Gln, NP_001229822.1:p.Pro241Leu, NP_001229822.1:p.Pro241Gln

Select item 147518451013.

rs1475184510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:114726350 (GRCh38)
1:115268971 (GRCh37)
Canonical SPDI:: NC_000001.11:114726349:G:C
Gene:: CSDE1 (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_000001.11:g.114726350G>C, NC_000001.10:g.115268971G>C, NM_007158.6:c.1408C>G, NM_007158.5:c.1408C>G, NM_001130523.3:c.1546C>G, NM_001130523.2:c.1546C>G, NM_001007553.3:c.1501C>G, NM_001007553.2:c.1501C>G, NM_001242891.2:c.1639C>G, NM_001242891.1:c.1639C>G, NM_001242892.2:c.1501C>G, NM_001242892.1:c.1501C>G, NM_001242893.2:c.1408C>G, NM_001242893.1:c.1408C>G, NP_009089.4:p.Gln470Glu, NP_001123995.1:p.Gln516Glu, NP_001007554.1:p.Gln501Glu, NP_001229820.1:p.Gln547Glu, NP_001229821.1:p.Gln501Glu, NP_001229822.1:p.Gln470Glu

Select item 147500268414.

rs1475002684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:114732793 (GRCh38)
1:115275414 (GRCh37)
Canonical SPDI:: NC_000001.11:114732792:G:A
Gene:: CSDE1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.114732793G>A, NC_000001.10:g.115275414G>A, NM_007158.6:c.768C>T, NM_007158.5:c.768C>T, NM_001130523.3:c.906C>T, NM_001130523.2:c.906C>T, NM_001007553.3:c.861C>T, NM_001007553.2:c.861C>T, NM_001242891.2:c.999C>T, NM_001242891.1:c.999C>T, NM_001242892.2:c.861C>T, NM_001242892.1:c.861C>T, NM_001242893.2:c.768C>T, NM_001242893.1:c.768C>T

Select item 147437876715.

rs1474378767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:114719720 (GRCh38)
1:115262341 (GRCh37)
Canonical SPDI:: NC_000001.11:114719719:A:G
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114719720A>G, NC_000001.10:g.115262341A>G, NG_007572.1:g.2175T>C, NM_007158.6:c.1982T>C, NM_007158.5:c.1982T>C, NM_001130523.3:c.2120T>C, NM_001130523.2:c.2120T>C, NM_001007553.3:c.2075T>C, NM_001007553.2:c.2075T>C, NM_001242891.2:c.2213T>C, NM_001242891.1:c.2213T>C, NM_001242892.2:c.2075T>C, NM_001242892.1:c.2075T>C, NM_001242893.2:c.1982T>C, NM_001242893.1:c.1982T>C, NP_009089.4:p.Val661Ala, NP_001123995.1:p.Val707Ala, NP_001007554.1:p.Val692Ala, NP_001229820.1:p.Val738Ala, NP_001229821.1:p.Val692Ala, NP_001229822.1:p.Val661Ala

Select item 147420120416.

rs1474201204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:114739862 (GRCh38)
1:115282483 (GRCh37)
Canonical SPDI:: NC_000001.11:114739861:T:A
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.114739862T>A, NC_000001.10:g.115282483T>A, NM_007158.6:c.29A>T, NM_007158.5:c.29A>T, NM_001130523.3:c.167A>T, NM_001130523.2:c.167A>T, NM_001007553.3:c.29A>T, NM_001007553.2:c.29A>T, NM_001242891.2:c.167A>T, NM_001242891.1:c.167A>T, NM_001242892.2:c.29A>T, NM_001242892.1:c.29A>T, NM_001242893.2:c.29A>T, NM_001242893.1:c.29A>T, NP_009089.4:p.Asn10Ile, NP_001123995.1:p.Asn56Ile, NP_001007554.1:p.Asn10Ile, NP_001229820.1:p.Asn56Ile, NP_001229821.1:p.Asn10Ile, NP_001229822.1:p.Asn10Ile

Select item 147273121717.

rs1472731217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:114734039 (GRCh38)
1:115276660 (GRCh37)
Canonical SPDI:: NC_000001.11:114734038:C:G
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.114734039C>G, NC_000001.10:g.115276660C>G, NM_007158.6:c.568G>C, NM_007158.5:c.568G>C, NM_001130523.3:c.706G>C, NM_001130523.2:c.706G>C, NM_001007553.3:c.661G>C, NM_001007553.2:c.661G>C, NM_001242891.2:c.799G>C, NM_001242891.1:c.799G>C, NM_001242892.2:c.661G>C, NM_001242892.1:c.661G>C, NM_001242893.2:c.568G>C, NM_001242893.1:c.568G>C, NP_009089.4:p.Glu190Gln, NP_001123995.1:p.Glu236Gln, NP_001007554.1:p.Glu221Gln, NP_001229820.1:p.Glu267Gln, NP_001229821.1:p.Glu221Gln, NP_001229822.1:p.Glu190Gln

Select item 147263444318.

rs1472634443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:114723908 (GRCh38)
1:115266529 (GRCh37)
Canonical SPDI:: NC_000001.11:114723907:T:C,NC_000001.11:114723907:T:G
Gene:: CSDE1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000113/4 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.114723908T>C, NC_000001.11:g.114723908T>G, NC_000001.10:g.115266529T>C, NC_000001.10:g.115266529T>G, NM_007158.6:c.1755A>G, NM_007158.6:c.1755A>C, NM_007158.5:c.1755A>G, NM_007158.5:c.1755A>C, NM_001130523.3:c.1893A>G, NM_001130523.3:c.1893A>C, NM_001130523.2:c.1893A>G, NM_001130523.2:c.1893A>C, NM_001007553.3:c.1848A>G, NM_001007553.3:c.1848A>C, NM_001007553.2:c.1848A>G, NM_001007553.2:c.1848A>C, NM_001242891.2:c.1986A>G, NM_001242891.2:c.1986A>C, NM_001242891.1:c.1986A>G, NM_001242891.1:c.1986A>C, NM_001242892.2:c.1848A>G, NM_001242892.2:c.1848A>C, NM_001242892.1:c.1848A>G, NM_001242892.1:c.1848A>C, NM_001242893.2:c.1755A>G, NM_001242893.2:c.1755A>C, NM_001242893.1:c.1755A>G, NM_001242893.1:c.1755A>C, NP_009089.4:p.Gln585His, NP_001123995.1:p.Gln631His, NP_001007554.1:p.Gln616His, NP_001229820.1:p.Gln662His, NP_001229821.1:p.Gln616His, NP_001229822.1:p.Gln585His

Select item 147025977919.

rs1470259779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:114725331 (GRCh38)
1:115267952 (GRCh37)
Canonical SPDI:: NC_000001.11:114725330:T:G
Gene:: CSDE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114725331T>G, NC_000001.10:g.115267952T>G, NM_007158.6:c.1550A>C, NM_007158.5:c.1550A>C, NM_001130523.3:c.1688A>C, NM_001130523.2:c.1688A>C, NM_001007553.3:c.1643A>C, NM_001007553.2:c.1643A>C, NM_001242891.2:c.1781A>C, NM_001242891.1:c.1781A>C, NM_001242892.2:c.1643A>C, NM_001242892.1:c.1643A>C, NM_001242893.2:c.1550A>C, NM_001242893.1:c.1550A>C, NP_009089.4:p.Glu517Ala, NP_001123995.1:p.Glu563Ala, NP_001007554.1:p.Glu548Ala, NP_001229820.1:p.Glu594Ala, NP_001229821.1:p.Glu548Ala, NP_001229822.1:p.Glu517Ala

Select item 146917713920.

rs1469177139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:114718615 (GRCh38)
1:115261236 (GRCh37)
Canonical SPDI:: NC_000001.11:114718614:T:C
Gene:: NRAS (Varview), CSDE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.114718615T>C, NC_000001.10:g.115261236T>C, NG_007572.1:g.3280A>G, NM_007158.6:c.2254A>G, NM_007158.5:c.2254A>G, NM_001130523.3:c.2392A>G, NM_001130523.2:c.2392A>G, NM_001007553.3:c.2347A>G, NM_001007553.2:c.2347A>G, NM_001242891.2:c.2485A>G, NM_001242891.1:c.2485A>G, NM_001242892.2:c.2347A>G, NM_001242892.1:c.2347A>G, NM_001242893.2:c.2254A>G, NM_001242893.1:c.2254A>G, NP_009089.4:p.Met752Val, NP_001123995.1:p.Met798Val, NP_001007554.1:p.Met783Val, NP_001229820.1:p.Met829Val, NP_001229821.1:p.Met783Val, NP_001229822.1:p.Met752Val

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