SNP Links for Protein (Select 981220773) - SNP

Links from Protein

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Select item 14894983211.

rs1489498321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:21183369 (GRCh38)
19:21366172 (GRCh37)
Canonical SPDI:: NC_000019.10:21183368:T:A
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21183369T>A, NC_000019.9:g.21366172T>A, NG_051229.1:g.46361T>A, NM_133473.4:c.1066T>A, NM_133473.3:c.1066T>A, NM_133473.2:c.1066T>A, NM_001319127.2:c.745T>A, NM_001319127.1:c.745T>A, NM_001319126.2:c.793T>A, NM_001319126.1:c.793T>A, NM_001319124.2:c.1069T>A, NM_001319124.1:c.1069T>A, NR_138052.2:n.1280T>A, NR_138052.1:n.1310T>A, NR_138053.2:n.1213T>A, NR_138053.1:n.1243T>A, XR_001753620.2:n.1330T>A, XR_001753620.1:n.1361T>A, XR_007066664.1:n.1333T>A, XR_007066667.1:n.1213T>A, XR_007066669.1:n.1210T>A, XR_007066665.1:n.1333T>A, XR_007066666.1:n.1261T>A, XR_007066668.1:n.1213T>A, XR_007066670.1:n.1210T>A, NP_597730.2:p.Phe356Ile, NP_001306056.1:p.Phe249Ile, NP_001306055.1:p.Phe265Ile, NP_001306053.1:p.Phe357Ile

Select item 14882768812.

rs1488276881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21183190 (GRCh38)
19:21365993 (GRCh37)
Canonical SPDI:: NC_000019.10:21183189:C:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21183190C>G, NC_000019.9:g.21365993C>G, NG_051229.1:g.46182C>G, NM_133473.4:c.887C>G, NM_133473.3:c.887C>G, NM_133473.2:c.887C>G, NM_001319127.2:c.566C>G, NM_001319127.1:c.566C>G, NM_001319126.2:c.614C>G, NM_001319126.1:c.614C>G, NM_001319124.2:c.890C>G, NM_001319124.1:c.890C>G, NR_138052.2:n.1101C>G, NR_138052.1:n.1131C>G, NR_138053.2:n.1034C>G, NR_138053.1:n.1064C>G, XR_001753620.2:n.1151C>G, XR_001753620.1:n.1182C>G, XR_007066664.1:n.1154C>G, XR_007066667.1:n.1034C>G, XR_007066669.1:n.1031C>G, XR_007066665.1:n.1154C>G, XR_007066666.1:n.1082C>G, XR_007066668.1:n.1034C>G, XR_007066670.1:n.1031C>G, NP_597730.2:p.Ala296Gly, NP_001306056.1:p.Ala189Gly, NP_001306055.1:p.Ala205Gly, NP_001306053.1:p.Ala297Gly

Select item 14872103313.

rs1487210331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21183792 (GRCh38)
19:21366595 (GRCh37)
Canonical SPDI:: NC_000019.10:21183791:T:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21183792T>C, NC_000019.9:g.21366595T>C, NG_051229.1:g.46784T>C, NM_133473.4:c.1489T>C, NM_133473.3:c.1489T>C, NM_133473.2:c.1489T>C, NM_001319127.2:c.1168T>C, NM_001319127.1:c.1168T>C, NM_001319126.2:c.1216T>C, NM_001319126.1:c.1216T>C, NM_001319124.2:c.1492T>C, NM_001319124.1:c.1492T>C, NR_138052.2:n.1703T>C, NR_138052.1:n.1733T>C, NR_138053.2:n.1636T>C, NR_138053.1:n.1666T>C, XR_001753620.2:n.1753T>C, XR_001753620.1:n.1784T>C, XR_007066664.1:n.1756T>C, XR_007066667.1:n.1636T>C, XR_007066669.1:n.1633T>C, XR_007066665.1:n.1756T>C, XR_007066666.1:n.1684T>C, XR_007066668.1:n.1636T>C, XR_007066670.1:n.1633T>C, NP_597730.2:p.Ser497Pro, NP_001306056.1:p.Ser390Pro, NP_001306055.1:p.Ser406Pro, NP_001306053.1:p.Ser498Pro

Select item 14835702974.

rs1483570297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21182917 (GRCh38)
19:21365720 (GRCh37)
Canonical SPDI:: NC_000019.10:21182916:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21182917A>G, NC_000019.9:g.21365720A>G, NG_051229.1:g.45909A>G, NM_133473.4:c.614A>G, NM_133473.3:c.614A>G, NM_133473.2:c.614A>G, NM_001319127.2:c.293A>G, NM_001319127.1:c.293A>G, NM_001319126.2:c.341A>G, NM_001319126.1:c.341A>G, NM_001319124.2:c.617A>G, NM_001319124.1:c.617A>G, NR_138052.2:n.828A>G, NR_138052.1:n.858A>G, NR_138053.2:n.761A>G, NR_138053.1:n.791A>G, XR_001753620.2:n.878A>G, XR_001753620.1:n.909A>G, XR_007066664.1:n.881A>G, XR_007066667.1:n.761A>G, XR_007066669.1:n.758A>G, XR_007066665.1:n.881A>G, XR_007066666.1:n.809A>G, XR_007066668.1:n.761A>G, XR_007066670.1:n.758A>G, NP_597730.2:p.Lys205Arg, NP_001306056.1:p.Lys98Arg, NP_001306055.1:p.Lys114Arg, NP_001306053.1:p.Lys206Arg

Select item 14835345185.

rs1483534518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21183085 (GRCh38)
19:21365888 (GRCh37)
Canonical SPDI:: NC_000019.10:21183084:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21183085A>G, NC_000019.9:g.21365888A>G, NG_051229.1:g.46077A>G, NM_133473.4:c.782A>G, NM_133473.3:c.782A>G, NM_133473.2:c.782A>G, NM_001319127.2:c.461A>G, NM_001319127.1:c.461A>G, NM_001319126.2:c.509A>G, NM_001319126.1:c.509A>G, NM_001319124.2:c.785A>G, NM_001319124.1:c.785A>G, NR_138052.2:n.996A>G, NR_138052.1:n.1026A>G, NR_138053.2:n.929A>G, NR_138053.1:n.959A>G, XR_001753620.2:n.1046A>G, XR_001753620.1:n.1077A>G, XR_007066664.1:n.1049A>G, XR_007066667.1:n.929A>G, XR_007066669.1:n.926A>G, XR_007066665.1:n.1049A>G, XR_007066666.1:n.977A>G, XR_007066668.1:n.929A>G, XR_007066670.1:n.926A>G, NP_597730.2:p.Lys261Arg, NP_001306056.1:p.Lys154Arg, NP_001306055.1:p.Lys170Arg, NP_001306053.1:p.Lys262Arg

Select item 14819545456.

rs1481954545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21183378 (GRCh38)
19:21366181 (GRCh37)
Canonical SPDI:: NC_000019.10:21183377:C:T
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21183378C>T, NC_000019.9:g.21366181C>T, NG_051229.1:g.46370C>T, NM_133473.4:c.1075C>T, NM_133473.3:c.1075C>T, NM_133473.2:c.1075C>T, NM_001319127.2:c.754C>T, NM_001319127.1:c.754C>T, NM_001319126.2:c.802C>T, NM_001319126.1:c.802C>T, NM_001319124.2:c.1078C>T, NM_001319124.1:c.1078C>T, NR_138052.2:n.1289C>T, NR_138052.1:n.1319C>T, NR_138053.2:n.1222C>T, NR_138053.1:n.1252C>T, XR_001753620.2:n.1339C>T, XR_001753620.1:n.1370C>T, XR_007066664.1:n.1342C>T, XR_007066667.1:n.1222C>T, XR_007066669.1:n.1219C>T, XR_007066665.1:n.1342C>T, XR_007066666.1:n.1270C>T, XR_007066668.1:n.1222C>T, XR_007066670.1:n.1219C>T, NP_597730.2:p.Leu359Phe, NP_001306056.1:p.Leu252Phe, NP_001306055.1:p.Leu268Phe, NP_001306053.1:p.Leu360Phe

Select item 14819466367.

rs1481946636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:21183551 (GRCh38)
19:21366354 (GRCh37)
Canonical SPDI:: NC_000019.10:21183550:T:A,NC_000019.10:21183550:T:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
HGVS:: NC_000019.10:g.21183551T>A, NC_000019.10:g.21183551T>C, NC_000019.9:g.21366354T>A, NC_000019.9:g.21366354T>C, NG_051229.1:g.46543T>A, NG_051229.1:g.46543T>C, NM_133473.4:c.1248T>A, NM_133473.4:c.1248T>C, NM_133473.3:c.1248T>A, NM_133473.3:c.1248T>C, NM_133473.2:c.1248T>A, NM_133473.2:c.1248T>C, NM_001319127.2:c.927T>A, NM_001319127.2:c.927T>C, NM_001319127.1:c.927T>A, NM_001319127.1:c.927T>C, NM_001319126.2:c.975T>A, NM_001319126.2:c.975T>C, NM_001319126.1:c.975T>A, NM_001319126.1:c.975T>C, NM_001319124.2:c.1251T>A, NM_001319124.2:c.1251T>C, NM_001319124.1:c.1251T>A, NM_001319124.1:c.1251T>C, NR_138052.2:n.1462T>A, NR_138052.2:n.1462T>C, NR_138052.1:n.1492T>A, NR_138052.1:n.1492T>C, NR_138053.2:n.1395T>A, NR_138053.2:n.1395T>C, NR_138053.1:n.1425T>A, NR_138053.1:n.1425T>C, XR_001753620.2:n.1512T>A, XR_001753620.2:n.1512T>C, XR_001753620.1:n.1543T>A, XR_001753620.1:n.1543T>C, XR_007066664.1:n.1515T>A, XR_007066664.1:n.1515T>C, XR_007066667.1:n.1395T>A, XR_007066667.1:n.1395T>C, XR_007066669.1:n.1392T>A, XR_007066669.1:n.1392T>C, XR_007066665.1:n.1515T>A, XR_007066665.1:n.1515T>C, XR_007066666.1:n.1443T>A, XR_007066666.1:n.1443T>C, XR_007066668.1:n.1395T>A, XR_007066668.1:n.1395T>C, XR_007066670.1:n.1392T>A, XR_007066670.1:n.1392T>C

Select item 14790307538.

rs1479030753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21183864 (GRCh38)
19:21366667 (GRCh37)
Canonical SPDI:: NC_000019.10:21183863:T:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21183864T>C, NC_000019.9:g.21366667T>C, NG_051229.1:g.46856T>C, NM_133473.4:c.1561T>C, NM_133473.3:c.1561T>C, NM_133473.2:c.1561T>C, NM_001319127.2:c.1240T>C, NM_001319127.1:c.1240T>C, NM_001319126.2:c.1288T>C, NM_001319126.1:c.1288T>C, NM_001319124.2:c.1564T>C, NM_001319124.1:c.1564T>C, NR_138052.2:n.1775T>C, NR_138052.1:n.1805T>C, NR_138053.2:n.1708T>C, NR_138053.1:n.1738T>C, XR_001753620.2:n.1825T>C, XR_001753620.1:n.1856T>C, XR_007066664.1:n.1828T>C, XR_007066667.1:n.1708T>C, XR_007066669.1:n.1705T>C, XR_007066665.1:n.1828T>C, XR_007066666.1:n.1756T>C, XR_007066668.1:n.1708T>C, XR_007066670.1:n.1705T>C, NP_597730.2:p.Phe521Leu, NP_001306056.1:p.Phe414Leu, NP_001306055.1:p.Phe430Leu, NP_001306053.1:p.Phe522Leu

Select item 14748378349.

rs1474837834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:21182906 (GRCh38)
19:21365709 (GRCh37)
Canonical SPDI:: NC_000019.10:21182905:G:T
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21182906G>T, NC_000019.9:g.21365709G>T, NG_051229.1:g.45898G>T, NM_133473.4:c.603G>T, NM_133473.3:c.603G>T, NM_133473.2:c.603G>T, NM_001319127.2:c.282G>T, NM_001319127.1:c.282G>T, NM_001319126.2:c.330G>T, NM_001319126.1:c.330G>T, NM_001319124.2:c.606G>T, NM_001319124.1:c.606G>T, NR_138052.2:n.817G>T, NR_138052.1:n.847G>T, NR_138053.2:n.750G>T, NR_138053.1:n.780G>T, XR_001753620.2:n.867G>T, XR_001753620.1:n.898G>T, XR_007066664.1:n.870G>T, XR_007066667.1:n.750G>T, XR_007066669.1:n.747G>T, XR_007066665.1:n.870G>T, XR_007066666.1:n.798G>T, XR_007066668.1:n.750G>T, XR_007066670.1:n.747G>T, NP_597730.2:p.Lys201Asn, NP_001306056.1:p.Lys94Asn, NP_001306055.1:p.Lys110Asn, NP_001306053.1:p.Lys202Asn

Select item 146913980110.

rs1469139801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21182705 (GRCh38)
19:21365508 (GRCh37)
Canonical SPDI:: NC_000019.10:21182704:T:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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)
HGVS:: NC_000019.10:g.21182705T>C, NC_000019.9:g.21365508T>C, NG_051229.1:g.45697T>C, NM_133473.4:c.402T>C, NM_133473.3:c.402T>C, NM_133473.2:c.402T>C, NM_001319127.2:c.81T>C, NM_001319127.1:c.81T>C, NM_001319126.2:c.129T>C, NM_001319126.1:c.129T>C, NM_001319124.2:c.405T>C, NM_001319124.1:c.405T>C, NR_138052.2:n.616T>C, NR_138052.1:n.646T>C, NR_138053.2:n.549T>C, NR_138053.1:n.579T>C, XR_001753620.2:n.666T>C, XR_001753620.1:n.697T>C, XR_007066664.1:n.669T>C, XR_007066667.1:n.549T>C, XR_007066669.1:n.546T>C, XR_007066665.1:n.669T>C, XR_007066666.1:n.597T>C, XR_007066668.1:n.549T>C, XR_007066670.1:n.546T>C

Select item 146699659911.

rs1466996599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:21183136 (GRCh38)
19:21365939 (GRCh37)
Canonical SPDI:: NC_000019.10:21183135:A:G,NC_000019.10:21183135:A:T
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21183136A>G, NC_000019.10:g.21183136A>T, NC_000019.9:g.21365939A>G, NC_000019.9:g.21365939A>T, NG_051229.1:g.46128A>G, NG_051229.1:g.46128A>T, NM_133473.4:c.833A>G, NM_133473.4:c.833A>T, NM_133473.3:c.833A>G, NM_133473.3:c.833A>T, NM_133473.2:c.833A>G, NM_133473.2:c.833A>T, NM_001319127.2:c.512A>G, NM_001319127.2:c.512A>T, NM_001319127.1:c.512A>G, NM_001319127.1:c.512A>T, NM_001319126.2:c.560A>G, NM_001319126.2:c.560A>T, NM_001319126.1:c.560A>G, NM_001319126.1:c.560A>T, NM_001319124.2:c.836A>G, NM_001319124.2:c.836A>T, NM_001319124.1:c.836A>G, NM_001319124.1:c.836A>T, NR_138052.2:n.1047A>G, NR_138052.2:n.1047A>T, NR_138052.1:n.1077A>G, NR_138052.1:n.1077A>T, NR_138053.2:n.980A>G, NR_138053.2:n.980A>T, NR_138053.1:n.1010A>G, NR_138053.1:n.1010A>T, XR_001753620.2:n.1097A>G, XR_001753620.2:n.1097A>T, XR_001753620.1:n.1128A>G, XR_001753620.1:n.1128A>T, XR_007066664.1:n.1100A>G, XR_007066664.1:n.1100A>T, XR_007066667.1:n.980A>G, XR_007066667.1:n.980A>T, XR_007066669.1:n.977A>G, XR_007066669.1:n.977A>T, XR_007066665.1:n.1100A>G, XR_007066665.1:n.1100A>T, XR_007066666.1:n.1028A>G, XR_007066666.1:n.1028A>T, XR_007066668.1:n.980A>G, XR_007066668.1:n.980A>T, XR_007066670.1:n.977A>G, XR_007066670.1:n.977A>T, NP_597730.2:p.His278Arg, NP_597730.2:p.His278Leu, NP_001306056.1:p.His171Arg, NP_001306056.1:p.His171Leu, NP_001306055.1:p.His187Arg, NP_001306055.1:p.His187Leu, NP_001306053.1:p.His279Arg, NP_001306053.1:p.His279Leu

Select item 146666908412.

rs1466669084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:21183209 (GRCh38)
19:21366012 (GRCh37)
Canonical SPDI:: NC_000019.10:21183208:C:A,NC_000019.10:21183208:C:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21183209C>A, NC_000019.10:g.21183209C>G, NC_000019.9:g.21366012C>A, NC_000019.9:g.21366012C>G, NG_051229.1:g.46201C>A, NG_051229.1:g.46201C>G, NM_133473.4:c.906C>A, NM_133473.4:c.906C>G, NM_133473.3:c.906C>A, NM_133473.3:c.906C>G, NM_133473.2:c.906C>A, NM_133473.2:c.906C>G, NM_001319127.2:c.585C>A, NM_001319127.2:c.585C>G, NM_001319127.1:c.585C>A, NM_001319127.1:c.585C>G, NM_001319126.2:c.633C>A, NM_001319126.2:c.633C>G, NM_001319126.1:c.633C>A, NM_001319126.1:c.633C>G, NM_001319124.2:c.909C>A, NM_001319124.2:c.909C>G, NM_001319124.1:c.909C>A, NM_001319124.1:c.909C>G, NR_138052.2:n.1120C>A, NR_138052.2:n.1120C>G, NR_138052.1:n.1150C>A, NR_138052.1:n.1150C>G, NR_138053.2:n.1053C>A, NR_138053.2:n.1053C>G, NR_138053.1:n.1083C>A, NR_138053.1:n.1083C>G, XR_001753620.2:n.1170C>A, XR_001753620.2:n.1170C>G, XR_001753620.1:n.1201C>A, XR_001753620.1:n.1201C>G, XR_007066664.1:n.1173C>A, XR_007066664.1:n.1173C>G, XR_007066667.1:n.1053C>A, XR_007066667.1:n.1053C>G, XR_007066669.1:n.1050C>A, XR_007066669.1:n.1050C>G, XR_007066665.1:n.1173C>A, XR_007066665.1:n.1173C>G, XR_007066666.1:n.1101C>A, XR_007066666.1:n.1101C>G, XR_007066668.1:n.1053C>A, XR_007066668.1:n.1053C>G, XR_007066670.1:n.1050C>A, XR_007066670.1:n.1050C>G, NP_597730.2:p.His302Gln, NP_597730.2:p.His302Gln, NP_001306056.1:p.His195Gln, NP_001306056.1:p.His195Gln, NP_001306055.1:p.His211Gln, NP_001306055.1:p.His211Gln, NP_001306053.1:p.His303Gln, NP_001306053.1:p.His303Gln

Select item 146615896413.

rs1466158964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21182865 (GRCh38)
19:21365668 (GRCh37)
Canonical SPDI:: NC_000019.10:21182864:T:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.21182865T>C, NC_000019.9:g.21365668T>C, NG_051229.1:g.45857T>C, NM_133473.4:c.562T>C, NM_133473.3:c.562T>C, NM_133473.2:c.562T>C, NM_001319127.2:c.241T>C, NM_001319127.1:c.241T>C, NM_001319126.2:c.289T>C, NM_001319126.1:c.289T>C, NM_001319124.2:c.565T>C, NM_001319124.1:c.565T>C, NR_138052.2:n.776T>C, NR_138052.1:n.806T>C, NR_138053.2:n.709T>C, NR_138053.1:n.739T>C, XR_001753620.2:n.826T>C, XR_001753620.1:n.857T>C, XR_007066664.1:n.829T>C, XR_007066667.1:n.709T>C, XR_007066669.1:n.706T>C, XR_007066665.1:n.829T>C, XR_007066666.1:n.757T>C, XR_007066668.1:n.709T>C, XR_007066670.1:n.706T>C, NP_597730.2:p.Phe188Leu, NP_001306056.1:p.Phe81Leu, NP_001306055.1:p.Phe97Leu, NP_001306053.1:p.Phe189Leu

Select item 146398655714.

rs1463986557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:21182782 (GRCh38)
19:21365585 (GRCh37)
Canonical SPDI:: NC_000019.10:21182781:G:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21182782G>C, NC_000019.9:g.21365585G>C, NG_051229.1:g.45774G>C, NM_133473.4:c.479G>C, NM_133473.3:c.479G>C, NM_133473.2:c.479G>C, NM_001319127.2:c.158G>C, NM_001319127.1:c.158G>C, NM_001319126.2:c.206G>C, NM_001319126.1:c.206G>C, NM_001319124.2:c.482G>C, NM_001319124.1:c.482G>C, NR_138052.2:n.693G>C, NR_138052.1:n.723G>C, NR_138053.2:n.626G>C, NR_138053.1:n.656G>C, XR_001753620.2:n.743G>C, XR_001753620.1:n.774G>C, XR_007066664.1:n.746G>C, XR_007066667.1:n.626G>C, XR_007066669.1:n.623G>C, XR_007066665.1:n.746G>C, XR_007066666.1:n.674G>C, XR_007066668.1:n.626G>C, XR_007066670.1:n.623G>C, NP_597730.2:p.Gly160Ala, NP_001306056.1:p.Gly53Ala, NP_001306055.1:p.Gly69Ala, NP_001306053.1:p.Gly161Ala

Select item 145653327815.

rs1456533278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21183105 (GRCh38)
19:21365908 (GRCh37)
Canonical SPDI:: NC_000019.10:21183104:G:A
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21183105G>A, NC_000019.9:g.21365908G>A, NG_051229.1:g.46097G>A, NM_133473.4:c.802G>A, NM_133473.3:c.802G>A, NM_133473.2:c.802G>A, NM_001319127.2:c.481G>A, NM_001319127.1:c.481G>A, NM_001319126.2:c.529G>A, NM_001319126.1:c.529G>A, NM_001319124.2:c.805G>A, NM_001319124.1:c.805G>A, NR_138052.2:n.1016G>A, NR_138052.1:n.1046G>A, NR_138053.2:n.949G>A, NR_138053.1:n.979G>A, XR_001753620.2:n.1066G>A, XR_001753620.1:n.1097G>A, XR_007066664.1:n.1069G>A, XR_007066667.1:n.949G>A, XR_007066669.1:n.946G>A, XR_007066665.1:n.1069G>A, XR_007066666.1:n.997G>A, XR_007066668.1:n.949G>A, XR_007066670.1:n.946G>A, NP_597730.2:p.Ala268Thr, NP_001306056.1:p.Ala161Thr, NP_001306055.1:p.Ala177Thr, NP_001306053.1:p.Ala269Thr

Select item 145604352116.

rs1456043521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21183218 (GRCh38)
19:21366021 (GRCh37)
Canonical SPDI:: NC_000019.10:21183217:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21183218A>G, NC_000019.9:g.21366021A>G, NG_051229.1:g.46210A>G, NM_133473.4:c.915A>G, NM_133473.3:c.915A>G, NM_133473.2:c.915A>G, NM_001319127.2:c.594A>G, NM_001319127.1:c.594A>G, NM_001319126.2:c.642A>G, NM_001319126.1:c.642A>G, NM_001319124.2:c.918A>G, NM_001319124.1:c.918A>G, NR_138052.2:n.1129A>G, NR_138052.1:n.1159A>G, NR_138053.2:n.1062A>G, NR_138053.1:n.1092A>G, XR_001753620.2:n.1179A>G, XR_001753620.1:n.1210A>G, XR_007066664.1:n.1182A>G, XR_007066667.1:n.1062A>G, XR_007066669.1:n.1059A>G, XR_007066665.1:n.1182A>G, XR_007066666.1:n.1110A>G, XR_007066668.1:n.1062A>G, XR_007066670.1:n.1059A>G

Select item 145489722617.

rs1454897226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:21183945 (GRCh38)
19:21366748 (GRCh37)
Canonical SPDI:: NC_000019.10:21183944:A:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21183945A>C, NC_000019.9:g.21366748A>C, NG_051229.1:g.46937A>C, NM_133473.4:c.1642A>C, NM_133473.3:c.1642A>C, NM_133473.2:c.1642A>C, NM_001319127.2:c.1321A>C, NM_001319127.1:c.1321A>C, NM_001319126.2:c.1369A>C, NM_001319126.1:c.1369A>C, NM_001319124.2:c.1645A>C, NM_001319124.1:c.1645A>C, NR_138052.2:n.1856A>C, NR_138052.1:n.1886A>C, NR_138053.2:n.1789A>C, NR_138053.1:n.1819A>C, XR_001753620.2:n.1906A>C, XR_001753620.1:n.1937A>C, XR_007066664.1:n.1909A>C, XR_007066667.1:n.1789A>C, XR_007066669.1:n.1786A>C, XR_007066665.1:n.1909A>C, XR_007066666.1:n.1837A>C, XR_007066668.1:n.1789A>C, XR_007066670.1:n.1786A>C, NP_597730.2:p.Thr548Pro, NP_001306056.1:p.Thr441Pro, NP_001306055.1:p.Thr457Pro, NP_001306053.1:p.Thr549Pro

Select item 145296753318.

rs1452967533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21182845 (GRCh38)
19:21365648 (GRCh37)
Canonical SPDI:: NC_000019.10:21182844:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21182845A>G, NC_000019.9:g.21365648A>G, NG_051229.1:g.45837A>G, NM_133473.4:c.542A>G, NM_133473.3:c.542A>G, NM_133473.2:c.542A>G, NM_001319127.2:c.221A>G, NM_001319127.1:c.221A>G, NM_001319126.2:c.269A>G, NM_001319126.1:c.269A>G, NM_001319124.2:c.545A>G, NM_001319124.1:c.545A>G, NR_138052.2:n.756A>G, NR_138052.1:n.786A>G, NR_138053.2:n.689A>G, NR_138053.1:n.719A>G, XR_001753620.2:n.806A>G, XR_001753620.1:n.837A>G, XR_007066664.1:n.809A>G, XR_007066667.1:n.689A>G, XR_007066669.1:n.686A>G, XR_007066665.1:n.809A>G, XR_007066666.1:n.737A>G, XR_007066668.1:n.689A>G, XR_007066670.1:n.686A>G, NP_597730.2:p.Tyr181Cys, NP_001306056.1:p.Tyr74Cys, NP_001306055.1:p.Tyr90Cys, NP_001306053.1:p.Tyr182Cys

Select item 145082255319.

rs1450822553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:21183442 (GRCh38)
19:21366245 (GRCh37)
Canonical SPDI:: NC_000019.10:21183441:G:C,NC_000019.10:21183441:G:T
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000495/8 (TOMMO)
HGVS:: NC_000019.10:g.21183442G>C, NC_000019.10:g.21183442G>T, NC_000019.9:g.21366245G>C, NC_000019.9:g.21366245G>T, NG_051229.1:g.46434G>C, NG_051229.1:g.46434G>T, NM_133473.4:c.1139G>C, NM_133473.4:c.1139G>T, NM_133473.3:c.1139G>C, NM_133473.3:c.1139G>T, NM_133473.2:c.1139G>C, NM_133473.2:c.1139G>T, NM_001319127.2:c.818G>C, NM_001319127.2:c.818G>T, NM_001319127.1:c.818G>C, NM_001319127.1:c.818G>T, NM_001319126.2:c.866G>C, NM_001319126.2:c.866G>T, NM_001319126.1:c.866G>C, NM_001319126.1:c.866G>T, NM_001319124.2:c.1142G>C, NM_001319124.2:c.1142G>T, NM_001319124.1:c.1142G>C, NM_001319124.1:c.1142G>T, NR_138052.2:n.1353G>C, NR_138052.2:n.1353G>T, NR_138052.1:n.1383G>C, NR_138052.1:n.1383G>T, NR_138053.2:n.1286G>C, NR_138053.2:n.1286G>T, NR_138053.1:n.1316G>C, NR_138053.1:n.1316G>T, XR_001753620.2:n.1403G>C, XR_001753620.2:n.1403G>T, XR_001753620.1:n.1434G>C, XR_001753620.1:n.1434G>T, XR_007066664.1:n.1406G>C, XR_007066664.1:n.1406G>T, XR_007066667.1:n.1286G>C, XR_007066667.1:n.1286G>T, XR_007066669.1:n.1283G>C, XR_007066669.1:n.1283G>T, XR_007066665.1:n.1406G>C, XR_007066665.1:n.1406G>T, XR_007066666.1:n.1334G>C, XR_007066666.1:n.1334G>T, XR_007066668.1:n.1286G>C, XR_007066668.1:n.1286G>T, XR_007066670.1:n.1283G>C, XR_007066670.1:n.1283G>T, NP_597730.2:p.Gly380Ala, NP_597730.2:p.Gly380Val, NP_001306056.1:p.Gly273Ala, NP_001306056.1:p.Gly273Val, NP_001306055.1:p.Gly289Ala, NP_001306055.1:p.Gly289Val, NP_001306053.1:p.Gly381Ala, NP_001306053.1:p.Gly381Val

Select item 145009994920.

rs1450099949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:21182672 (GRCh38)
19:21365475 (GRCh37)
Canonical SPDI:: NC_000019.10:21182671:A:C
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21182672A>C, NC_000019.9:g.21365475A>C, NG_051229.1:g.45664A>C, NM_133473.4:c.369A>C, NM_133473.3:c.369A>C, NM_133473.2:c.369A>C, NM_001319127.2:c.48A>C, NM_001319127.1:c.48A>C, NM_001319126.2:c.96A>C, NM_001319126.1:c.96A>C, NM_001319124.2:c.372A>C, NM_001319124.1:c.372A>C, NR_138052.2:n.583A>C, NR_138052.1:n.613A>C, NR_138053.2:n.516A>C, NR_138053.1:n.546A>C, XR_001753620.2:n.633A>C, XR_001753620.1:n.664A>C, XR_007066664.1:n.636A>C, XR_007066667.1:n.516A>C, XR_007066669.1:n.513A>C, XR_007066665.1:n.636A>C, XR_007066666.1:n.564A>C, XR_007066668.1:n.516A>C, XR_007066670.1:n.513A>C, NP_597730.2:p.Lys123Asn, NP_001306056.1:p.Lys16Asn, NP_001306055.1:p.Lys32Asn, NP_001306053.1:p.Lys124Asn

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