SNP Links for Protein (Select 395627666) - SNP

Select item 14878083591.

rs1487808359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37646313 (GRCh38)
2:37873456 (GRCh37)
Canonical SPDI:: NC_000002.12:37646312:T:C
Gene:: CDC42EP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.37646313T>C, NC_000002.11:g.37873456T>C, NM_006449.5:c.275A>G, NM_006449.4:c.275A>G, XM_011532482.4:c.275A>G, XM_011532482.3:c.275A>G, XM_011532482.2:c.275A>G, XM_011532482.1:c.275A>G, NM_001270437.2:c.275A>G, NM_001270437.1:c.275A>G, NM_001270438.2:c.275A>G, NM_001270438.1:c.275A>G, NM_001270436.2:c.275A>G, NM_001270436.1:c.275A>G, NM_001371569.1:c.275A>G, NM_001371570.1:c.275A>G, NP_006440.2:p.Asp92Gly, XP_011530784.1:p.Asp92Gly, NP_001257366.1:p.Asp92Gly, NP_001257367.1:p.Asp92Gly, NP_001257365.1:p.Asp92Gly, NP_001358498.1:p.Asp92Gly, NP_001358499.1:p.Asp92Gly

Select item 14854343902.

rs1485434390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:37646149 (GRCh38)
2:37873292 (GRCh37)
Canonical SPDI:: NC_000002.12:37646148:G:C
Gene:: CDC42EP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.37646149G>C, NC_000002.11:g.37873292G>C, NM_006449.5:c.439C>G, NM_006449.4:c.439C>G, XM_011532482.4:c.439C>G, XM_011532482.3:c.439C>G, XM_011532482.2:c.439C>G, XM_011532482.1:c.439C>G, NM_001270437.2:c.439C>G, NM_001270437.1:c.439C>G, NM_001270438.2:c.439C>G, NM_001270438.1:c.439C>G, NM_001270436.2:c.439C>G, NM_001270436.1:c.439C>G, NM_001371569.1:c.439C>G, NM_001371570.1:c.439C>G, NP_006440.2:p.Pro147Ala, XP_011530784.1:p.Pro147Ala, NP_001257366.1:p.Pro147Ala, NP_001257367.1:p.Pro147Ala, NP_001257365.1:p.Pro147Ala, NP_001358498.1:p.Pro147Ala, NP_001358499.1:p.Pro147Ala

Select item 14839519923.

rs1483951992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:37645894 (GRCh38)
2:37873037 (GRCh37)
Canonical SPDI:: NC_000002.12:37645893:G:A
Gene:: CDC42EP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.37645894G>A, NC_000002.11:g.37873037G>A, NM_006449.5:c.694C>T, NM_006449.4:c.694C>T, XM_011532482.4:c.694C>T, XM_011532482.3:c.694C>T, XM_011532482.2:c.694C>T, XM_011532482.1:c.694C>T, NM_001270437.2:c.694C>T, NM_001270437.1:c.694C>T, NM_001270438.2:c.694C>T, NM_001270438.1:c.694C>T, NM_001270436.2:c.694C>T, NM_001270436.1:c.694C>T, NM_001371569.1:c.694C>T, NM_001371570.1:c.694C>T, NP_006440.2:p.Leu232Phe, XP_011530784.1:p.Leu232Phe, NP_001257366.1:p.Leu232Phe, NP_001257367.1:p.Leu232Phe, NP_001257365.1:p.Leu232Phe, NP_001358498.1:p.Leu232Phe, NP_001358499.1:p.Leu232Phe

Select item 14782266354.

rs1478226635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:37645957 (GRCh38)
2:37873100 (GRCh37)
Canonical SPDI:: NC_000002.12:37645956:A:G
Gene:: CDC42EP3 (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_000002.12:g.37645957A>G, NC_000002.11:g.37873100A>G, NM_006449.5:c.631T>C, NM_006449.4:c.631T>C, XM_011532482.4:c.631T>C, XM_011532482.3:c.631T>C, XM_011532482.2:c.631T>C, XM_011532482.1:c.631T>C, NM_001270437.2:c.631T>C, NM_001270437.1:c.631T>C, NM_001270438.2:c.631T>C, NM_001270438.1:c.631T>C, NM_001270436.2:c.631T>C, NM_001270436.1:c.631T>C, NM_001371569.1:c.631T>C, NM_001371570.1:c.631T>C, NP_006440.2:p.Cys211Arg, XP_011530784.1:p.Cys211Arg, NP_001257366.1:p.Cys211Arg, NP_001257367.1:p.Cys211Arg, NP_001257365.1:p.Cys211Arg, NP_001358498.1:p.Cys211Arg, NP_001358499.1:p.Cys211Arg

Select item 14750187005.

rs1475018700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:37646087 (GRCh38)
2:37873230 (GRCh37)
Canonical SPDI:: NC_000002.12:37646086:C:G
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37646087C>G, NC_000002.11:g.37873230C>G, NM_006449.5:c.501G>C, NM_006449.4:c.501G>C, XM_011532482.4:c.501G>C, XM_011532482.3:c.501G>C, XM_011532482.2:c.501G>C, XM_011532482.1:c.501G>C, NM_001270437.2:c.501G>C, NM_001270437.1:c.501G>C, NM_001270438.2:c.501G>C, NM_001270438.1:c.501G>C, NM_001270436.2:c.501G>C, NM_001270436.1:c.501G>C, NM_001371569.1:c.501G>C, NM_001371570.1:c.501G>C, NP_006440.2:p.Gln167His, XP_011530784.1:p.Gln167His, NP_001257366.1:p.Gln167His, NP_001257367.1:p.Gln167His, NP_001257365.1:p.Gln167His, NP_001358498.1:p.Gln167His, NP_001358499.1:p.Gln167His

Select item 14741312876.

rs1474131287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:37645903 (GRCh38)
2:37873046 (GRCh37)
Canonical SPDI:: NC_000002.12:37645902:C:A
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.37645903C>A, NC_000002.11:g.37873046C>A, NM_006449.5:c.685G>T, NM_006449.4:c.685G>T, XM_011532482.4:c.685G>T, XM_011532482.3:c.685G>T, XM_011532482.2:c.685G>T, XM_011532482.1:c.685G>T, NM_001270437.2:c.685G>T, NM_001270437.1:c.685G>T, NM_001270438.2:c.685G>T, NM_001270438.1:c.685G>T, NM_001270436.2:c.685G>T, NM_001270436.1:c.685G>T, NM_001371569.1:c.685G>T, NM_001371570.1:c.685G>T, NP_006440.2:p.Gly229Cys, XP_011530784.1:p.Gly229Cys, NP_001257366.1:p.Gly229Cys, NP_001257367.1:p.Gly229Cys, NP_001257365.1:p.Gly229Cys, NP_001358498.1:p.Gly229Cys, NP_001358499.1:p.Gly229Cys

Select item 14717018037.

rs1471701803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:37646023 (GRCh38)
2:37873166 (GRCh37)
Canonical SPDI:: NC_000002.12:37646022:A:G
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0016/3 (Korea1K)
HGVS:: NC_000002.12:g.37646023A>G, NC_000002.11:g.37873166A>G, NM_006449.5:c.565T>C, NM_006449.4:c.565T>C, XM_011532482.4:c.565T>C, XM_011532482.3:c.565T>C, XM_011532482.2:c.565T>C, XM_011532482.1:c.565T>C, NM_001270437.2:c.565T>C, NM_001270437.1:c.565T>C, NM_001270438.2:c.565T>C, NM_001270438.1:c.565T>C, NM_001270436.2:c.565T>C, NM_001270436.1:c.565T>C, NM_001371569.1:c.565T>C, NM_001371570.1:c.565T>C, NP_006440.2:p.Ser189Pro, XP_011530784.1:p.Ser189Pro, NP_001257366.1:p.Ser189Pro, NP_001257367.1:p.Ser189Pro, NP_001257365.1:p.Ser189Pro, NP_001358498.1:p.Ser189Pro, NP_001358499.1:p.Ser189Pro

Select item 14676385958.

rs1467638595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:37646008 (GRCh38)
2:37873151 (GRCh37)
Canonical SPDI:: NC_000002.12:37646007:C:T
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37646008C>T, NC_000002.11:g.37873151C>T, NM_006449.5:c.580G>A, NM_006449.4:c.580G>A, XM_011532482.4:c.580G>A, XM_011532482.3:c.580G>A, XM_011532482.2:c.580G>A, XM_011532482.1:c.580G>A, NM_001270437.2:c.580G>A, NM_001270437.1:c.580G>A, NM_001270438.2:c.580G>A, NM_001270438.1:c.580G>A, NM_001270436.2:c.580G>A, NM_001270436.1:c.580G>A, NM_001371569.1:c.580G>A, NM_001371570.1:c.580G>A, NP_006440.2:p.Glu194Lys, XP_011530784.1:p.Glu194Lys, NP_001257366.1:p.Glu194Lys, NP_001257367.1:p.Glu194Lys, NP_001257365.1:p.Glu194Lys, NP_001358498.1:p.Glu194Lys, NP_001358499.1:p.Glu194Lys

Select item 14653882519.

rs1465388251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:37646462 (GRCh38)
2:37873605 (GRCh37)
Canonical SPDI:: NC_000002.12:37646461:G:A
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37646462G>A, NC_000002.11:g.37873605G>A, NM_006449.5:c.126C>T, NM_006449.4:c.126C>T, XM_011532482.4:c.126C>T, XM_011532482.3:c.126C>T, XM_011532482.2:c.126C>T, XM_011532482.1:c.126C>T, NM_001270437.2:c.126C>T, NM_001270437.1:c.126C>T, NM_001270438.2:c.126C>T, NM_001270438.1:c.126C>T, NM_001270436.2:c.126C>T, NM_001270436.1:c.126C>T, NM_001371569.1:c.126C>T, NM_001371570.1:c.126C>T

Select item 146398984310.

rs1463989843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:37645831 (GRCh38)
2:37872974 (GRCh37)
Canonical SPDI:: NC_000002.12:37645830:T:G
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37645831T>G, NC_000002.11:g.37872974T>G, NM_006449.5:c.757A>C, NM_006449.4:c.757A>C, XM_011532482.4:c.757A>C, XM_011532482.3:c.757A>C, XM_011532482.2:c.757A>C, XM_011532482.1:c.757A>C, NM_001270437.2:c.757A>C, NM_001270437.1:c.757A>C, NM_001270438.2:c.757A>C, NM_001270438.1:c.757A>C, NM_001270436.2:c.757A>C, NM_001270436.1:c.757A>C, NM_001371569.1:c.757A>C, NM_001371570.1:c.757A>C, NP_006440.2:p.Asn253His, XP_011530784.1:p.Asn253His, NP_001257366.1:p.Asn253His, NP_001257367.1:p.Asn253His, NP_001257365.1:p.Asn253His, NP_001358498.1:p.Asn253His, NP_001358499.1:p.Asn253His

Select item 146263955311.

rs1462639553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:37646095 (GRCh38)
2:37873238 (GRCh37)
Canonical SPDI:: NC_000002.12:37646094:C:T
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37646095C>T, NC_000002.11:g.37873238C>T, NM_006449.5:c.493G>A, NM_006449.4:c.493G>A, XM_011532482.4:c.493G>A, XM_011532482.3:c.493G>A, XM_011532482.2:c.493G>A, XM_011532482.1:c.493G>A, NM_001270437.2:c.493G>A, NM_001270437.1:c.493G>A, NM_001270438.2:c.493G>A, NM_001270438.1:c.493G>A, NM_001270436.2:c.493G>A, NM_001270436.1:c.493G>A, NM_001371569.1:c.493G>A, NM_001371570.1:c.493G>A, NP_006440.2:p.Val165Ile, XP_011530784.1:p.Val165Ile, NP_001257366.1:p.Val165Ile, NP_001257367.1:p.Val165Ile, NP_001257365.1:p.Val165Ile, NP_001358498.1:p.Val165Ile, NP_001358499.1:p.Val165Ile

Select item 146096290112.

rs1460962901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:37646040 (GRCh38)
2:37873183 (GRCh37)
Canonical SPDI:: NC_000002.12:37646039:T:C
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37646040T>C, NC_000002.11:g.37873183T>C, NM_006449.5:c.548A>G, NM_006449.4:c.548A>G, XM_011532482.4:c.548A>G, XM_011532482.3:c.548A>G, XM_011532482.2:c.548A>G, XM_011532482.1:c.548A>G, NM_001270437.2:c.548A>G, NM_001270437.1:c.548A>G, NM_001270438.2:c.548A>G, NM_001270438.1:c.548A>G, NM_001270436.2:c.548A>G, NM_001270436.1:c.548A>G, NM_001371569.1:c.548A>G, NM_001371570.1:c.548A>G, NP_006440.2:p.Gln183Arg, XP_011530784.1:p.Gln183Arg, NP_001257366.1:p.Gln183Arg, NP_001257367.1:p.Gln183Arg, NP_001257365.1:p.Gln183Arg, NP_001358498.1:p.Gln183Arg, NP_001358499.1:p.Gln183Arg

Select item 145366078913.

rs1453660789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:37645951 (GRCh38)
2:37873094 (GRCh37)
Canonical SPDI:: NC_000002.12:37645950:G:A
Gene:: CDC42EP3 (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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37645951G>A, NC_000002.11:g.37873094G>A, NM_006449.5:c.637C>T, NM_006449.4:c.637C>T, XM_011532482.4:c.637C>T, XM_011532482.3:c.637C>T, XM_011532482.2:c.637C>T, XM_011532482.1:c.637C>T, NM_001270437.2:c.637C>T, NM_001270437.1:c.637C>T, NM_001270438.2:c.637C>T, NM_001270438.1:c.637C>T, NM_001270436.2:c.637C>T, NM_001270436.1:c.637C>T, NM_001371569.1:c.637C>T, NM_001371570.1:c.637C>T, NP_006440.2:p.Leu213Phe, XP_011530784.1:p.Leu213Phe, NP_001257366.1:p.Leu213Phe, NP_001257367.1:p.Leu213Phe, NP_001257365.1:p.Leu213Phe, NP_001358498.1:p.Leu213Phe, NP_001358499.1:p.Leu213Phe

Select item 145276734314.

rs1452767343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:37645860 (GRCh38)
2:37873003 (GRCh37)
Canonical SPDI:: NC_000002.12:37645859:A:C
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.37645860A>C, NC_000002.11:g.37873003A>C, NM_006449.5:c.728T>G, NM_006449.4:c.728T>G, XM_011532482.4:c.728T>G, XM_011532482.3:c.728T>G, XM_011532482.2:c.728T>G, XM_011532482.1:c.728T>G, NM_001270437.2:c.728T>G, NM_001270437.1:c.728T>G, NM_001270438.2:c.728T>G, NM_001270438.1:c.728T>G, NM_001270436.2:c.728T>G, NM_001270436.1:c.728T>G, NM_001371569.1:c.728T>G, NM_001371570.1:c.728T>G, NP_006440.2:p.Leu243Trp, XP_011530784.1:p.Leu243Trp, NP_001257366.1:p.Leu243Trp, NP_001257367.1:p.Leu243Trp, NP_001257365.1:p.Leu243Trp, NP_001358498.1:p.Leu243Trp, NP_001358499.1:p.Leu243Trp

Select item 145138885115.

rs1451388851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:37646188 (GRCh38)
2:37873331 (GRCh37)
Canonical SPDI:: NC_000002.12:37646187:A:C
Gene:: CDC42EP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.37646188A>C, NC_000002.11:g.37873331A>C, NM_006449.5:c.400T>G, NM_006449.4:c.400T>G, XM_011532482.4:c.400T>G, XM_011532482.3:c.400T>G, XM_011532482.2:c.400T>G, XM_011532482.1:c.400T>G, NM_001270437.2:c.400T>G, NM_001270437.1:c.400T>G, NM_001270438.2:c.400T>G, NM_001270438.1:c.400T>G, NM_001270436.2:c.400T>G, NM_001270436.1:c.400T>G, NM_001371569.1:c.400T>G, NM_001371570.1:c.400T>G, NP_006440.2:p.Ser134Ala, XP_011530784.1:p.Ser134Ala, NP_001257366.1:p.Ser134Ala, NP_001257367.1:p.Ser134Ala, NP_001257365.1:p.Ser134Ala, NP_001358498.1:p.Ser134Ala, NP_001358499.1:p.Ser134Ala

Select item 145048965916.

rs1450489659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:37645847 (GRCh38)
2:37872990 (GRCh37)
Canonical SPDI:: NC_000002.12:37645846:C:G
Gene:: CDC42EP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37645847C>G, NC_000002.11:g.37872990C>G, NM_006449.5:c.741G>C, NM_006449.4:c.741G>C, XM_011532482.4:c.741G>C, XM_011532482.3:c.741G>C, XM_011532482.2:c.741G>C, XM_011532482.1:c.741G>C, NM_001270437.2:c.741G>C, NM_001270437.1:c.741G>C, NM_001270438.2:c.741G>C, NM_001270438.1:c.741G>C, NM_001270436.2:c.741G>C, NM_001270436.1:c.741G>C, NM_001371569.1:c.741G>C, NM_001371570.1:c.741G>C

Select item 144902156017.

rs1449021560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:37646489 (GRCh38)
2:37873632 (GRCh37)
Canonical SPDI:: NC_000002.12:37646488:G:C,NC_000002.12:37646488:G:T
Gene:: CDC42EP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.37646489G>C, NC_000002.12:g.37646489G>T, NC_000002.11:g.37873632G>C, NC_000002.11:g.37873632G>T, NM_006449.5:c.99C>G, NM_006449.5:c.99C>A, NM_006449.4:c.99C>G, NM_006449.4:c.99C>A, XM_011532482.4:c.99C>G, XM_011532482.4:c.99C>A, XM_011532482.3:c.99C>G, XM_011532482.3:c.99C>A, XM_011532482.2:c.99C>G, XM_011532482.2:c.99C>A, XM_011532482.1:c.99C>G, XM_011532482.1:c.99C>A, NM_001270437.2:c.99C>G, NM_001270437.2:c.99C>A, NM_001270437.1:c.99C>G, NM_001270437.1:c.99C>A, NM_001270438.2:c.99C>G, NM_001270438.2:c.99C>A, NM_001270438.1:c.99C>G, NM_001270438.1:c.99C>A, NM_001270436.2:c.99C>G, NM_001270436.2:c.99C>A, NM_001270436.1:c.99C>G, NM_001270436.1:c.99C>A, NM_001371569.1:c.99C>G, NM_001371569.1:c.99C>A, NM_001371570.1:c.99C>G, NM_001371570.1:c.99C>A

Select item 144383148018.

rs1443831480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:37646556 (GRCh38)
2:37873699 (GRCh37)
Canonical SPDI:: NC_000002.12:37646555:G:A
Gene:: CDC42EP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37646556G>A, NC_000002.11:g.37873699G>A, NM_006449.5:c.32C>T, NM_006449.4:c.32C>T, XM_011532482.4:c.32C>T, XM_011532482.3:c.32C>T, XM_011532482.2:c.32C>T, XM_011532482.1:c.32C>T, NM_001270437.2:c.32C>T, NM_001270437.1:c.32C>T, NM_001270438.2:c.32C>T, NM_001270438.1:c.32C>T, NM_001270436.2:c.32C>T, NM_001270436.1:c.32C>T, NM_001371569.1:c.32C>T, NM_001371570.1:c.32C>T, NP_006440.2:p.Ala11Val, XP_011530784.1:p.Ala11Val, NP_001257366.1:p.Ala11Val, NP_001257367.1:p.Ala11Val, NP_001257365.1:p.Ala11Val, NP_001358498.1:p.Ala11Val, NP_001358499.1:p.Ala11Val

Select item 144374112519.

rs1443741125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:37645883 (GRCh38)
2:37873026 (GRCh37)
Canonical SPDI:: NC_000002.12:37645882:C:T
Gene:: CDC42EP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.37645883C>T, NC_000002.11:g.37873026C>T, NM_006449.5:c.705G>A, NM_006449.4:c.705G>A, XM_011532482.4:c.705G>A, XM_011532482.3:c.705G>A, XM_011532482.2:c.705G>A, XM_011532482.1:c.705G>A, NM_001270437.2:c.705G>A, NM_001270437.1:c.705G>A, NM_001270438.2:c.705G>A, NM_001270438.1:c.705G>A, NM_001270436.2:c.705G>A, NM_001270436.1:c.705G>A, NM_001371569.1:c.705G>A, NM_001371570.1:c.705G>A

Select item 143962800820.

rs1439628008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:37646326 (GRCh38)
2:37873469 (GRCh37)
Canonical SPDI:: NC_000002.12:37646325:T:G
Gene:: CDC42EP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.37646326T>G, NC_000002.11:g.37873469T>G, NM_006449.5:c.262A>C, NM_006449.4:c.262A>C, XM_011532482.4:c.262A>C, XM_011532482.3:c.262A>C, XM_011532482.2:c.262A>C, XM_011532482.1:c.262A>C, NM_001270437.2:c.262A>C, NM_001270437.1:c.262A>C, NM_001270438.2:c.262A>C, NM_001270438.1:c.262A>C, NM_001270436.2:c.262A>C, NM_001270436.1:c.262A>C, NM_001371569.1:c.262A>C, NM_001371570.1:c.262A>C, NP_006440.2:p.Asn88His, XP_011530784.1:p.Asn88His, NP_001257366.1:p.Asn88His, NP_001257367.1:p.Asn88His, NP_001257365.1:p.Asn88His, NP_001358498.1:p.Asn88His, NP_001358499.1:p.Asn88His

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Result Filters

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Items: 1 to 20 of 261

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