SNP Links for Protein (Select 1034640194) - SNP

Links from Protein

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Select item 14903774421.

rs1490377442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:137521695 (GRCh38)
4:138442849 (GRCh37)
Canonical SPDI:: NC_000004.12:137521694:A:G
Gene:: PCDH18 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.137521695A>G, NC_000004.11:g.138442849A>G, NM_019035.5:c.2742T>C, NM_019035.4:c.2742T>C, NM_019035.3:c.2742T>C, XM_006714239.4:c.2747T>C, XM_006714239.3:c.2747T>C, XM_006714239.2:c.2747T>C, XM_006714239.1:c.2747T>C, NM_001300828.2:c.2739T>C, NM_001300828.1:c.2739T>C, XM_017008311.2:c.2744T>C, XM_017008311.1:c.2744T>C, XP_006714302.1:p.Leu916Pro, XP_016863800.1:p.Leu915Pro

Select item 14898010082.

rs1489801008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:137530677 (GRCh38)
4:138451831 (GRCh37)
Canonical SPDI:: NC_000004.12:137530676:T:C
Gene:: PCDH18 (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_000004.12:g.137530677T>C, NC_000004.11:g.138451831T>C, NM_019035.5:c.1412A>G, NM_019035.4:c.1412A>G, NM_019035.3:c.1412A>G, XM_006714239.4:c.1412A>G, XM_006714239.3:c.1412A>G, XM_006714239.2:c.1412A>G, XM_006714239.1:c.1412A>G, NM_001300828.2:c.1412A>G, NM_001300828.1:c.1412A>G, XM_017008311.2:c.1412A>G, XM_017008311.1:c.1412A>G, NP_061908.1:p.Glu471Gly, XP_006714302.1:p.Glu471Gly, NP_001287757.1:p.Glu471Gly, XP_016863800.1:p.Glu471Gly

Select item 14896543553.

rs1489654355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:137531064 (GRCh38)
4:138452218 (GRCh37)
Canonical SPDI:: NC_000004.12:137531063:A:C,NC_000004.12:137531063:A:T
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000004.12:g.137531064A>C, NC_000004.12:g.137531064A>T, NC_000004.11:g.138452218A>C, NC_000004.11:g.138452218A>T, NM_019035.5:c.1025T>G, NM_019035.5:c.1025T>A, NM_019035.4:c.1025T>G, NM_019035.4:c.1025T>A, NM_019035.3:c.1025T>G, NM_019035.3:c.1025T>A, XM_006714239.4:c.1025T>G, XM_006714239.4:c.1025T>A, XM_006714239.3:c.1025T>G, XM_006714239.3:c.1025T>A, XM_006714239.2:c.1025T>G, XM_006714239.2:c.1025T>A, XM_006714239.1:c.1025T>G, XM_006714239.1:c.1025T>A, NM_001300828.2:c.1025T>G, NM_001300828.2:c.1025T>A, NM_001300828.1:c.1025T>G, NM_001300828.1:c.1025T>A, XM_017008311.2:c.1025T>G, XM_017008311.2:c.1025T>A, XM_017008311.1:c.1025T>G, XM_017008311.1:c.1025T>A, NP_061908.1:p.Ile342Ser, NP_061908.1:p.Ile342Asn, XP_006714302.1:p.Ile342Ser, XP_006714302.1:p.Ile342Asn, NP_001287757.1:p.Ile342Ser, NP_001287757.1:p.Ile342Asn, XP_016863800.1:p.Ile342Ser, XP_016863800.1:p.Ile342Asn

Select item 14889716934.

rs1488971693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:137531496 (GRCh38)
4:138452650 (GRCh37)
Canonical SPDI:: NC_000004.12:137531495:A:C
Gene:: PCDH18 (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_000004.12:g.137531496A>C, NC_000004.11:g.138452650A>C, NM_019035.5:c.593T>G, NM_019035.4:c.593T>G, NM_019035.3:c.593T>G, XM_006714239.4:c.593T>G, XM_006714239.3:c.593T>G, XM_006714239.2:c.593T>G, XM_006714239.1:c.593T>G, NM_001300828.2:c.593T>G, NM_001300828.1:c.593T>G, XM_017008311.2:c.593T>G, XM_017008311.1:c.593T>G, NP_061908.1:p.Leu198Arg, XP_006714302.1:p.Leu198Arg, NP_001287757.1:p.Leu198Arg, XP_016863800.1:p.Leu198Arg

Select item 14875998885.

rs1487599888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:137531884 (GRCh38)
4:138453038 (GRCh37)
Canonical SPDI:: NC_000004.12:137531883:T:C
Gene:: PCDH18 (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_000004.12:g.137531884T>C, NC_000004.11:g.138453038T>C, NM_019035.5:c.205A>G, NM_019035.4:c.205A>G, NM_019035.3:c.205A>G, XM_006714239.4:c.205A>G, XM_006714239.3:c.205A>G, XM_006714239.2:c.205A>G, XM_006714239.1:c.205A>G, NM_001300828.2:c.205A>G, NM_001300828.1:c.205A>G, XM_017008311.2:c.205A>G, XM_017008311.1:c.205A>G, NP_061908.1:p.Met69Val, XP_006714302.1:p.Met69Val, NP_001287757.1:p.Met69Val, XP_016863800.1:p.Met69Val

Select item 14869768906.

rs1486976890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:137530703 (GRCh38)
4:138451857 (GRCh37)
Canonical SPDI:: NC_000004.12:137530702:T:G
Gene:: PCDH18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.012009/22 (Korea1K)
HGVS:: NC_000004.12:g.137530703T>G, NC_000004.11:g.138451857T>G, NM_019035.5:c.1386A>C, NM_019035.4:c.1386A>C, NM_019035.3:c.1386A>C, XM_006714239.4:c.1386A>C, XM_006714239.3:c.1386A>C, XM_006714239.2:c.1386A>C, XM_006714239.1:c.1386A>C, NM_001300828.2:c.1386A>C, NM_001300828.1:c.1386A>C, XM_017008311.2:c.1386A>C, XM_017008311.1:c.1386A>C

Select item 14869495097.

rs1486949509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:137531211 (GRCh38)
4:138452365 (GRCh37)
Canonical SPDI:: NC_000004.12:137531210:A:G
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.137531211A>G, NC_000004.11:g.138452365A>G, NM_019035.5:c.878T>C, NM_019035.4:c.878T>C, NM_019035.3:c.878T>C, XM_006714239.4:c.878T>C, XM_006714239.3:c.878T>C, XM_006714239.2:c.878T>C, XM_006714239.1:c.878T>C, NM_001300828.2:c.878T>C, NM_001300828.1:c.878T>C, XM_017008311.2:c.878T>C, XM_017008311.1:c.878T>C, NP_061908.1:p.Ile293Thr, XP_006714302.1:p.Ile293Thr, NP_001287757.1:p.Ile293Thr, XP_016863800.1:p.Ile293Thr

Select item 14859678348.

rs1485967834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:137531565 (GRCh38)
4:138452719 (GRCh37)
Canonical SPDI:: NC_000004.12:137531564:G:A
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.137531565G>A, NC_000004.11:g.138452719G>A, NM_019035.5:c.524C>T, NM_019035.4:c.524C>T, NM_019035.3:c.524C>T, XM_006714239.4:c.524C>T, XM_006714239.3:c.524C>T, XM_006714239.2:c.524C>T, XM_006714239.1:c.524C>T, NM_001300828.2:c.524C>T, NM_001300828.1:c.524C>T, XM_017008311.2:c.524C>T, XM_017008311.1:c.524C>T, NP_061908.1:p.Ser175Leu, XP_006714302.1:p.Ser175Leu, NP_001287757.1:p.Ser175Leu, XP_016863800.1:p.Ser175Leu

Select item 14854068409.

rs1485406840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:137530159 (GRCh38)
4:138451313 (GRCh37)
Canonical SPDI:: NC_000004.12:137530158:T:C
Gene:: PCDH18 (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=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.137530159T>C, NC_000004.11:g.138451313T>C, NM_019035.5:c.1930A>G, NM_019035.4:c.1930A>G, NM_019035.3:c.1930A>G, XM_006714239.4:c.1930A>G, XM_006714239.3:c.1930A>G, XM_006714239.2:c.1930A>G, XM_006714239.1:c.1930A>G, NM_001300828.2:c.1930A>G, NM_001300828.1:c.1930A>G, XM_017008311.2:c.1930A>G, XM_017008311.1:c.1930A>G, NP_061908.1:p.Met644Val, XP_006714302.1:p.Met644Val, NP_001287757.1:p.Met644Val, XP_016863800.1:p.Met644Val

Select item 148443516210.

rs1484435162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:137530442 (GRCh38)
4:138451596 (GRCh37)
Canonical SPDI:: NC_000004.12:137530441:A:G,NC_000004.12:137530441:A:T
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.137530442A>G, NC_000004.12:g.137530442A>T, NC_000004.11:g.138451596A>G, NC_000004.11:g.138451596A>T, NM_019035.5:c.1647T>C, NM_019035.5:c.1647T>A, NM_019035.4:c.1647T>C, NM_019035.4:c.1647T>A, NM_019035.3:c.1647T>C, NM_019035.3:c.1647T>A, XM_006714239.4:c.1647T>C, XM_006714239.4:c.1647T>A, XM_006714239.3:c.1647T>C, XM_006714239.3:c.1647T>A, XM_006714239.2:c.1647T>C, XM_006714239.2:c.1647T>A, XM_006714239.1:c.1647T>C, XM_006714239.1:c.1647T>A, NM_001300828.2:c.1647T>C, NM_001300828.2:c.1647T>A, NM_001300828.1:c.1647T>C, NM_001300828.1:c.1647T>A, XM_017008311.2:c.1647T>C, XM_017008311.2:c.1647T>A, XM_017008311.1:c.1647T>C, XM_017008311.1:c.1647T>A, NP_061908.1:p.Asp549Glu, XP_006714302.1:p.Asp549Glu, NP_001287757.1:p.Asp549Glu, XP_016863800.1:p.Asp549Glu

Select item 147815058111.

rs1478150581 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:137528554 (GRCh38)
4:138449708 (GRCh37)
Canonical SPDI:: NC_000004.12:137528553:CCCC:CCC
Gene:: PCDH18 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.137528557del, NC_000004.11:g.138449711del, NM_019035.5:c.2664del, NM_019035.4:c.2664del, NM_019035.3:c.2664del, XM_006714239.4:c.2664del, XM_006714239.3:c.2664del, XM_006714239.2:c.2664del, XM_006714239.1:c.2664del, NM_001300828.2:c.2661del, NM_001300828.1:c.2661del, XM_017008311.2:c.2661del, XM_017008311.1:c.2661del, NP_061908.1:p.Arg889fs, XP_006714302.1:p.Arg889fs, NP_001287757.1:p.Arg888fs, XP_016863800.1:p.Arg888fs

Select item 147718668512.

rs1477186685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:137531112 (GRCh38)
4:138452266 (GRCh37)
Canonical SPDI:: NC_000004.12:137531111:G:A
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.137531112G>A, NC_000004.11:g.138452266G>A, NM_019035.5:c.977C>T, NM_019035.4:c.977C>T, NM_019035.3:c.977C>T, XM_006714239.4:c.977C>T, XM_006714239.3:c.977C>T, XM_006714239.2:c.977C>T, XM_006714239.1:c.977C>T, NM_001300828.2:c.977C>T, NM_001300828.1:c.977C>T, XM_017008311.2:c.977C>T, XM_017008311.1:c.977C>T, NP_061908.1:p.Ala326Val, XP_006714302.1:p.Ala326Val, NP_001287757.1:p.Ala326Val, XP_016863800.1:p.Ala326Val

Select item 147555425813.

rs1475554258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:137530714 (GRCh38)
4:138451868 (GRCh37)
Canonical SPDI:: NC_000004.12:137530713:T:A,NC_000004.12:137530713:T:C
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.137530714T>A, NC_000004.12:g.137530714T>C, NC_000004.11:g.138451868T>A, NC_000004.11:g.138451868T>C, NM_019035.5:c.1375A>T, NM_019035.5:c.1375A>G, NM_019035.4:c.1375A>T, NM_019035.4:c.1375A>G, NM_019035.3:c.1375A>T, NM_019035.3:c.1375A>G, XM_006714239.4:c.1375A>T, XM_006714239.4:c.1375A>G, XM_006714239.3:c.1375A>T, XM_006714239.3:c.1375A>G, XM_006714239.2:c.1375A>T, XM_006714239.2:c.1375A>G, XM_006714239.1:c.1375A>T, XM_006714239.1:c.1375A>G, NM_001300828.2:c.1375A>T, NM_001300828.2:c.1375A>G, NM_001300828.1:c.1375A>T, NM_001300828.1:c.1375A>G, XM_017008311.2:c.1375A>T, XM_017008311.2:c.1375A>G, XM_017008311.1:c.1375A>T, XM_017008311.1:c.1375A>G, NP_061908.1:p.Asn459Tyr, NP_061908.1:p.Asn459Asp, XP_006714302.1:p.Asn459Tyr, XP_006714302.1:p.Asn459Asp, NP_001287757.1:p.Asn459Tyr, NP_001287757.1:p.Asn459Asp, XP_016863800.1:p.Asn459Tyr, XP_016863800.1:p.Asn459Asp

Select item 147549017414.

rs1475490174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:137530993 (GRCh38)
4:138452147 (GRCh37)
Canonical SPDI:: NC_000004.12:137530992:T:A,NC_000004.12:137530992:T:C
Gene:: PCDH18 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.137530993T>A, NC_000004.12:g.137530993T>C, NC_000004.11:g.138452147T>A, NC_000004.11:g.138452147T>C, NM_019035.5:c.1096A>T, NM_019035.5:c.1096A>G, NM_019035.4:c.1096A>T, NM_019035.4:c.1096A>G, NM_019035.3:c.1096A>T, NM_019035.3:c.1096A>G, XM_006714239.4:c.1096A>T, XM_006714239.4:c.1096A>G, XM_006714239.3:c.1096A>T, XM_006714239.3:c.1096A>G, XM_006714239.2:c.1096A>T, XM_006714239.2:c.1096A>G, XM_006714239.1:c.1096A>T, XM_006714239.1:c.1096A>G, NM_001300828.2:c.1096A>T, NM_001300828.2:c.1096A>G, NM_001300828.1:c.1096A>T, NM_001300828.1:c.1096A>G, XM_017008311.2:c.1096A>T, XM_017008311.2:c.1096A>G, XM_017008311.1:c.1096A>T, XM_017008311.1:c.1096A>G, NP_061908.1:p.Ile366Leu, NP_061908.1:p.Ile366Val, XP_006714302.1:p.Ile366Leu, XP_006714302.1:p.Ile366Val, NP_001287757.1:p.Ile366Leu, NP_001287757.1:p.Ile366Val, XP_016863800.1:p.Ile366Leu, XP_016863800.1:p.Ile366Val

Select item 147482166015.

rs1474821660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:137530340 (GRCh38)
4:138451494 (GRCh37)
Canonical SPDI:: NC_000004.12:137530339:A:G
Gene:: PCDH18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000004.12:g.137530340A>G, NC_000004.11:g.138451494A>G, NM_019035.5:c.1749T>C, NM_019035.4:c.1749T>C, NM_019035.3:c.1749T>C, XM_006714239.4:c.1749T>C, XM_006714239.3:c.1749T>C, XM_006714239.2:c.1749T>C, XM_006714239.1:c.1749T>C, NM_001300828.2:c.1749T>C, NM_001300828.1:c.1749T>C, XM_017008311.2:c.1749T>C, XM_017008311.1:c.1749T>C

Select item 147326008816.

rs1473260088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:137529703 (GRCh38)
4:138450857 (GRCh37)
Canonical SPDI:: NC_000004.12:137529702:G:A
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.137529703G>A, NC_000004.11:g.138450857G>A, NM_019035.5:c.2386C>T, NM_019035.4:c.2386C>T, NM_019035.3:c.2386C>T, XM_006714239.4:c.2386C>T, XM_006714239.3:c.2386C>T, XM_006714239.2:c.2386C>T, XM_006714239.1:c.2386C>T, NM_001300828.2:c.2386C>T, NM_001300828.1:c.2386C>T, XM_017008311.2:c.2386C>T, XM_017008311.1:c.2386C>T, NP_061908.1:p.His796Tyr, XP_006714302.1:p.His796Tyr, NP_001287757.1:p.His796Tyr, XP_016863800.1:p.His796Tyr

Select item 146951821317.

rs1469518213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:137531710 (GRCh38)
4:138452864 (GRCh37)
Canonical SPDI:: NC_000004.12:137531709:C:T
Gene:: PCDH18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.137531710C>T, NC_000004.11:g.138452864C>T, NM_019035.5:c.379G>A, NM_019035.4:c.379G>A, NM_019035.3:c.379G>A, XM_006714239.4:c.379G>A, XM_006714239.3:c.379G>A, XM_006714239.2:c.379G>A, XM_006714239.1:c.379G>A, NM_001300828.2:c.379G>A, NM_001300828.1:c.379G>A, XM_017008311.2:c.379G>A, XM_017008311.1:c.379G>A, NP_061908.1:p.Val127Met, XP_006714302.1:p.Val127Met, NP_001287757.1:p.Val127Met, XP_016863800.1:p.Val127Met

Select item 146491997718.

rs1464919977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:137530988 (GRCh38)
4:138452142 (GRCh37)
Canonical SPDI:: NC_000004.12:137530987:A:T
Gene:: PCDH18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.137530988A>T, NC_000004.11:g.138452142A>T, NM_019035.5:c.1101T>A, NM_019035.4:c.1101T>A, NM_019035.3:c.1101T>A, XM_006714239.4:c.1101T>A, XM_006714239.3:c.1101T>A, XM_006714239.2:c.1101T>A, XM_006714239.1:c.1101T>A, NM_001300828.2:c.1101T>A, NM_001300828.1:c.1101T>A, XM_017008311.2:c.1101T>A, XM_017008311.1:c.1101T>A

Select item 146174943419.

rs1461749434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:137531452 (GRCh38)
4:138452606 (GRCh37)
Canonical SPDI:: NC_000004.12:137531451:C:G,NC_000004.12:137531451:C:T
Gene:: PCDH18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.137531452C>G, NC_000004.12:g.137531452C>T, NC_000004.11:g.138452606C>G, NC_000004.11:g.138452606C>T, NM_019035.5:c.637G>C, NM_019035.5:c.637G>A, NM_019035.4:c.637G>C, NM_019035.4:c.637G>A, NM_019035.3:c.637G>C, NM_019035.3:c.637G>A, XM_006714239.4:c.637G>C, XM_006714239.4:c.637G>A, XM_006714239.3:c.637G>C, XM_006714239.3:c.637G>A, XM_006714239.2:c.637G>C, XM_006714239.2:c.637G>A, XM_006714239.1:c.637G>C, XM_006714239.1:c.637G>A, NM_001300828.2:c.637G>C, NM_001300828.2:c.637G>A, NM_001300828.1:c.637G>C, NM_001300828.1:c.637G>A, XM_017008311.2:c.637G>C, XM_017008311.2:c.637G>A, XM_017008311.1:c.637G>C, XM_017008311.1:c.637G>A, NP_061908.1:p.Glu213Gln, NP_061908.1:p.Glu213Lys, XP_006714302.1:p.Glu213Gln, XP_006714302.1:p.Glu213Lys, NP_001287757.1:p.Glu213Gln, NP_001287757.1:p.Glu213Lys, XP_016863800.1:p.Glu213Gln, XP_016863800.1:p.Glu213Lys

Select item 146070177520.

rs1460701775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:137530666 (GRCh38)
4:138451820 (GRCh37)
Canonical SPDI:: NC_000004.12:137530665:A:C
Gene:: PCDH18 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.137530666A>C, NC_000004.11:g.138451820A>C, NM_019035.5:c.1423T>G, NM_019035.4:c.1423T>G, NM_019035.3:c.1423T>G, XM_006714239.4:c.1423T>G, XM_006714239.3:c.1423T>G, XM_006714239.2:c.1423T>G, XM_006714239.1:c.1423T>G, NM_001300828.2:c.1423T>G, NM_001300828.1:c.1423T>G, XM_017008311.2:c.1423T>G, XM_017008311.1:c.1423T>G, NP_061908.1:p.Ser475Ala, XP_006714302.1:p.Ser475Ala, NP_001287757.1:p.Ser475Ala, XP_016863800.1:p.Ser475Ala

dbSNP

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