SNP Links for Protein (Select 530393368) - SNP

Select item 14901879131.

rs1490187913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:116681834 (GRCh38)
10:118441345 (GRCh37)
Canonical SPDI:: NC_000010.11:116681833:C:G
Gene:: HSPA12A (Varview)
Functional Consequence:: missense_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_000010.11:g.116681834C>G, NC_000010.10:g.118441345C>G, NW_025791790.1:g.92830C>G, NW_003871069.1:g.92830C>G, XM_005269673.6:c.927G>C, XM_005269673.5:c.927G>C, XM_005269673.4:c.927G>C, XM_005269673.3:c.927G>C, XM_005269673.2:c.927G>C, XM_005269673.1:c.927G>C, XM_011539579.3:c.927G>C, XM_011539579.2:c.927G>C, XM_011539579.1:c.927G>C, NM_025015.3:c.879G>C, NM_025015.2:c.879G>C, NM_001330164.2:c.930G>C, NM_001330164.1:c.930G>C, XM_047424971.1:c.630G>C, XM_047424972.1:c.351G>C, XP_005269730.1:p.Leu309Phe, XP_011537881.1:p.Leu309Phe, NP_079291.2:p.Leu293Phe, NP_001317093.1:p.Leu310Phe, XP_047280927.1:p.Leu210Phe, XP_047280928.1:p.Leu117Phe

Select item 14891064452.

rs1489106445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:116707209 (GRCh38)
10:118466720 (GRCh37)
Canonical SPDI:: NC_000010.11:116707208:G:A
Gene:: HSPA12A (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.116707209G>A, NC_000010.10:g.118466720G>A, NW_025791790.1:g.118205G>A, NW_003871069.1:g.118205G>A, XM_005269673.6:c.165C>T, XM_005269673.5:c.165C>T, XM_005269673.4:c.165C>T, XM_005269673.3:c.165C>T, XM_005269673.2:c.165C>T, XM_005269673.1:c.165C>T, XM_011539579.3:c.165C>T, XM_011539579.2:c.165C>T, XM_011539579.1:c.165C>T, NM_025015.3:c.117C>T, NM_025015.2:c.117C>T, NM_001330164.2:c.168C>T, NM_001330164.1:c.168C>T, XM_047424971.1:c.-133C>T

Select item 14871238733.

rs1487123873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:116683878 (GRCh38)
10:118443389 (GRCh37)
Canonical SPDI:: NC_000010.11:116683877:G:A,NC_000010.11:116683877:G:T
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.116683878G>A, NC_000010.11:g.116683878G>T, NC_000010.10:g.118443389G>A, NC_000010.10:g.118443389G>T, NW_025791790.1:g.94874G>A, NW_025791790.1:g.94874G>T, NW_003871069.1:g.94874G>A, NW_003871069.1:g.94874G>T, XM_005269673.6:c.796C>T, XM_005269673.6:c.796C>A, XM_005269673.5:c.796C>T, XM_005269673.5:c.796C>A, XM_005269673.4:c.796C>T, XM_005269673.4:c.796C>A, XM_005269673.3:c.796C>T, XM_005269673.3:c.796C>A, XM_005269673.2:c.796C>T, XM_005269673.2:c.796C>A, XM_005269673.1:c.796C>T, XM_005269673.1:c.796C>A, XM_011539579.3:c.796C>T, XM_011539579.3:c.796C>A, XM_011539579.2:c.796C>T, XM_011539579.2:c.796C>A, XM_011539579.1:c.796C>T, XM_011539579.1:c.796C>A, NM_025015.3:c.748C>T, NM_025015.3:c.748C>A, NM_025015.2:c.748C>T, NM_025015.2:c.748C>A, NM_001330164.2:c.799C>T, NM_001330164.2:c.799C>A, NM_001330164.1:c.799C>T, NM_001330164.1:c.799C>A, XM_047424971.1:c.499C>T, XM_047424971.1:c.499C>A, XM_047424972.1:c.220C>T, XM_047424972.1:c.220C>A, XP_005269730.1:p.Arg266Trp, XP_011537881.1:p.Arg266Trp, NP_079291.2:p.Arg250Trp, NP_001317093.1:p.Arg267Trp, XP_047280927.1:p.Arg167Trp, XP_047280928.1:p.Arg74Trp

Select item 14863391384.

rs1486339138 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 10:116679715 (GRCh38)
10:118439226 (GRCh37)
Canonical SPDI:: NC_000010.11:116679712:AGAAG:AG
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.116679715_116679717del, NC_000010.10:g.118439226_118439228del, NW_025791790.1:g.90711_90713del, NW_003871069.1:g.90711_90713del, XM_005269673.6:c.1122_1124del, XM_005269673.5:c.1122_1124del, XM_005269673.4:c.1122_1124del, XM_005269673.3:c.1122_1124del, XM_005269673.2:c.1122_1124del, XM_005269673.1:c.1122_1124del, XM_011539579.3:c.1122_1124del, XM_011539579.2:c.1122_1124del, XM_011539579.1:c.1122_1124del, NM_025015.3:c.1074_1076del, NM_025015.2:c.1074_1076del, NM_001330164.2:c.1125_1127del, NM_001330164.1:c.1125_1127del, XM_047424971.1:c.825_827del, XM_047424972.1:c.546_548del, XP_005269730.1:p.Leu375del, XP_011537881.1:p.Leu375del, NP_079291.2:p.Leu359del, NP_001317093.1:p.Leu376del, XP_047280927.1:p.Leu276del, XP_047280928.1:p.Leu183del

Select item 14831910315.

rs1483191031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:116834993 (GRCh38)
10:118594504 (GRCh37)
Canonical SPDI:: NC_000010.11:116834992:A:T
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.116834993A>T, NC_000010.10:g.118594504A>T, XM_005269673.6:c.30T>A, XM_005269673.5:c.30T>A, XM_005269673.4:c.30T>A, XM_005269673.3:c.30T>A, XM_005269673.2:c.30T>A, XM_005269673.1:c.30T>A, XM_011539579.3:c.30T>A, XM_011539579.2:c.30T>A, XM_011539579.1:c.30T>A, NM_001330164.2:c.33T>A, NM_001330164.1:c.33T>A, XP_005269730.1:p.Cys10Ter, XP_011537881.1:p.Cys10Ter, NP_001317093.1:p.Cys11Ter

Select item 14830610426.

rs1483061042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:116681234 (GRCh38)
10:118440745 (GRCh37)
Canonical SPDI:: NC_000010.11:116681233:G:A
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.116681234G>A, NC_000010.10:g.118440745G>A, NW_025791790.1:g.92230G>A, NW_003871069.1:g.92230G>A, XM_005269673.6:c.993C>T, XM_005269673.5:c.993C>T, XM_005269673.4:c.993C>T, XM_005269673.3:c.993C>T, XM_005269673.2:c.993C>T, XM_005269673.1:c.993C>T, XM_011539579.3:c.993C>T, XM_011539579.2:c.993C>T, XM_011539579.1:c.993C>T, NM_025015.3:c.945C>T, NM_025015.2:c.945C>T, NM_001330164.2:c.996C>T, NM_001330164.1:c.996C>T, XM_047424971.1:c.696C>T, XM_047424972.1:c.417C>T

Select item 14806382227.

rs1480638222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:116705200 (GRCh38)
10:118464711 (GRCh37)
Canonical SPDI:: NC_000010.11:116705199:C:T
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.116705200C>T, NC_000010.10:g.118464711C>T, NW_025791790.1:g.116196C>T, NW_003871069.1:g.116196C>T, XM_005269673.6:c.253G>A, XM_005269673.5:c.253G>A, XM_005269673.4:c.253G>A, XM_005269673.3:c.253G>A, XM_005269673.2:c.253G>A, XM_005269673.1:c.253G>A, XM_011539579.3:c.253G>A, XM_011539579.2:c.253G>A, XM_011539579.1:c.253G>A, NM_025015.3:c.205G>A, NM_025015.2:c.205G>A, NM_001330164.2:c.256G>A, NM_001330164.1:c.256G>A, XM_047424971.1:c.-45G>A, XM_047424972.1:c.-32G>A, XP_005269730.1:p.Gly85Ser, XP_011537881.1:p.Gly85Ser, NP_079291.2:p.Gly69Ser, NP_001317093.1:p.Gly86Ser

Select item 14794639698.

rs1479463969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:116705239 (GRCh38)
10:118464750 (GRCh37)
Canonical SPDI:: NC_000010.11:116705238:G:A
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.116705239G>A, NC_000010.10:g.118464750G>A, NW_025791790.1:g.116235G>A, NW_003871069.1:g.116235G>A, XM_005269673.6:c.214C>T, XM_005269673.5:c.214C>T, XM_005269673.4:c.214C>T, XM_005269673.3:c.214C>T, XM_005269673.2:c.214C>T, XM_005269673.1:c.214C>T, XM_011539579.3:c.214C>T, XM_011539579.2:c.214C>T, XM_011539579.1:c.214C>T, NM_025015.3:c.166C>T, NM_025015.2:c.166C>T, NM_001330164.2:c.217C>T, NM_001330164.1:c.217C>T, XM_047424971.1:c.-84C>T, XM_047424972.1:c.-71C>T, XP_005269730.1:p.Leu72Phe, XP_011537881.1:p.Leu72Phe, NP_079291.2:p.Leu56Phe, NP_001317093.1:p.Leu73Phe

Select item 14756054039.

rs1475605403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:116701125 (GRCh38)
10:118460636 (GRCh37)
Canonical SPDI:: NC_000010.11:116701124:A:G
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.116701125A>G, NC_000010.10:g.118460636A>G, NW_025791790.1:g.112121A>G, NW_003871069.1:g.112121A>G, XM_005269673.6:c.307T>C, XM_005269673.5:c.307T>C, XM_005269673.4:c.307T>C, XM_005269673.3:c.307T>C, XM_005269673.2:c.307T>C, XM_005269673.1:c.307T>C, XM_011539579.3:c.307T>C, XM_011539579.2:c.307T>C, XM_011539579.1:c.307T>C, NM_025015.3:c.259T>C, NM_025015.2:c.259T>C, NM_001330164.2:c.310T>C, NM_001330164.1:c.310T>C, XM_047424971.1:c.10T>C, XP_005269730.1:p.Trp103Arg, XP_011537881.1:p.Trp103Arg, NP_079291.2:p.Trp87Arg, NP_001317093.1:p.Trp104Arg, XP_047280927.1:p.Trp4Arg

Select item 147178853210.

rs1471788532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:116679649 (GRCh38)
10:118439160 (GRCh37)
Canonical SPDI:: NC_000010.11:116679648:A:C
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116679649A>C, NC_000010.10:g.118439160A>C, NW_025791790.1:g.90645A>C, NW_003871069.1:g.90645A>C, XM_005269673.6:c.1188T>G, XM_005269673.5:c.1188T>G, XM_005269673.4:c.1188T>G, XM_005269673.3:c.1188T>G, XM_005269673.2:c.1188T>G, XM_005269673.1:c.1188T>G, XM_011539579.3:c.1188T>G, XM_011539579.2:c.1188T>G, XM_011539579.1:c.1188T>G, NM_025015.3:c.1140T>G, NM_025015.2:c.1140T>G, NM_001330164.2:c.1191T>G, NM_001330164.1:c.1191T>G, XM_047424971.1:c.891T>G, XM_047424972.1:c.612T>G

Select item 146539284111.

rs1465392841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:116675384 (GRCh38)
10:118434895 (GRCh37)
Canonical SPDI:: NC_000010.11:116675383:G:C
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.116675384G>C, NC_000010.10:g.118434895G>C, NW_025791790.1:g.86380G>C, NW_003871069.1:g.86380G>C, XM_005269673.6:c.1473C>G, XM_005269673.5:c.1473C>G, XM_005269673.4:c.1473C>G, XM_005269673.3:c.1473C>G, XM_005269673.2:c.1473C>G, XM_005269673.1:c.1473C>G, XM_011539579.3:c.1473C>G, XM_011539579.2:c.1473C>G, XM_011539579.1:c.1473C>G, NM_025015.3:c.1425C>G, NM_025015.2:c.1425C>G, NM_001330164.2:c.1476C>G, NM_001330164.1:c.1476C>G, XM_047424971.1:c.1176C>G, XM_047424972.1:c.897C>G

Select item 146002444012.

rs1460024440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:116701093 (GRCh38)
10:118460604 (GRCh37)
Canonical SPDI:: NC_000010.11:116701092:C:T
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000010.11:g.116701093C>T, NC_000010.10:g.118460604C>T, NW_025791790.1:g.112089C>T, NW_003871069.1:g.112089C>T, XM_005269673.6:c.339G>A, XM_005269673.5:c.339G>A, XM_005269673.4:c.339G>A, XM_005269673.3:c.339G>A, XM_005269673.2:c.339G>A, XM_005269673.1:c.339G>A, XM_011539579.3:c.339G>A, XM_011539579.2:c.339G>A, XM_011539579.1:c.339G>A, NM_025015.3:c.291G>A, NM_025015.2:c.291G>A, NM_001330164.2:c.342G>A, NM_001330164.1:c.342G>A, XM_047424971.1:c.42G>A

Select item 145817174913.

rs1458171749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:116683834 (GRCh38)
10:118443345 (GRCh37)
Canonical SPDI:: NC_000010.11:116683833:A:G
Gene:: HSPA12A (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)
HGVS:: NC_000010.11:g.116683834A>G, NC_000010.10:g.118443345A>G, NW_025791790.1:g.94830A>G, NW_003871069.1:g.94830A>G, XM_005269673.6:c.840T>C, XM_005269673.5:c.840T>C, XM_005269673.4:c.840T>C, XM_005269673.3:c.840T>C, XM_005269673.2:c.840T>C, XM_005269673.1:c.840T>C, XM_011539579.3:c.840T>C, XM_011539579.2:c.840T>C, XM_011539579.1:c.840T>C, NM_025015.3:c.792T>C, NM_025015.2:c.792T>C, NM_001330164.2:c.843T>C, NM_001330164.1:c.843T>C, XM_047424971.1:c.543T>C, XM_047424972.1:c.264T>C

Select item 144570235014.

rs1445702350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:116674997 (GRCh38)
10:118434508 (GRCh37)
Canonical SPDI:: NC_000010.11:116674996:G:A
Gene:: HSPA12A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116674997G>A, NC_000010.10:g.118434508G>A, NW_025791790.1:g.85993G>A, NW_003871069.1:g.85993G>A, XM_005269673.6:c.1860C>T, XM_005269673.5:c.1860C>T, XM_005269673.4:c.1860C>T, XM_005269673.3:c.1860C>T, XM_005269673.2:c.1860C>T, XM_005269673.1:c.1860C>T, XM_011539579.3:c.1860C>T, XM_011539579.2:c.1860C>T, XM_011539579.1:c.1860C>T, NM_025015.3:c.1812C>T, NM_025015.2:c.1812C>T, NM_001330164.2:c.1863C>T, NM_001330164.1:c.1863C>T, XM_047424971.1:c.1563C>T, XM_047424972.1:c.1284C>T

Select item 144421146515.

rs1444211465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:116679672 (GRCh38)
10:118439183 (GRCh37)
Canonical SPDI:: NC_000010.11:116679671:T:G
Gene:: HSPA12A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.116679672T>G, NC_000010.10:g.118439183T>G, NW_025791790.1:g.90668T>G, NW_003871069.1:g.90668T>G, XM_005269673.6:c.1165A>C, XM_005269673.5:c.1165A>C, XM_005269673.4:c.1165A>C, XM_005269673.3:c.1165A>C, XM_005269673.2:c.1165A>C, XM_005269673.1:c.1165A>C, XM_011539579.3:c.1165A>C, XM_011539579.2:c.1165A>C, XM_011539579.1:c.1165A>C, NM_025015.3:c.1117A>C, NM_025015.2:c.1117A>C, NM_001330164.2:c.1168A>C, NM_001330164.1:c.1168A>C, XM_047424971.1:c.868A>C, XM_047424972.1:c.589A>C, XP_005269730.1:p.Ile389Leu, XP_011537881.1:p.Ile389Leu, NP_079291.2:p.Ile373Leu, NP_001317093.1:p.Ile390Leu, XP_047280927.1:p.Ile290Leu, XP_047280928.1:p.Ile197Leu

Select item 143237197416.

rs1432371974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:116675296 (GRCh38)
10:118434807 (GRCh37)
Canonical SPDI:: NC_000010.11:116675295:T:C
Gene:: HSPA12A (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_000010.11:g.116675296T>C, NC_000010.10:g.118434807T>C, NW_025791790.1:g.86292T>C, NW_003871069.1:g.86292T>C, XM_005269673.6:c.1561A>G, XM_005269673.5:c.1561A>G, XM_005269673.4:c.1561A>G, XM_005269673.3:c.1561A>G, XM_005269673.2:c.1561A>G, XM_005269673.1:c.1561A>G, XM_011539579.3:c.1561A>G, XM_011539579.2:c.1561A>G, XM_011539579.1:c.1561A>G, NM_025015.3:c.1513A>G, NM_025015.2:c.1513A>G, NM_001330164.2:c.1564A>G, NM_001330164.1:c.1564A>G, XM_047424971.1:c.1264A>G, XM_047424972.1:c.985A>G, XP_005269730.1:p.Ile521Val, XP_011537881.1:p.Ile521Val, NP_079291.2:p.Ile505Val, NP_001317093.1:p.Ile522Val, XP_047280927.1:p.Ile422Val, XP_047280928.1:p.Ile329Val

Select item 143215289317.

rs1432152893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:116701061 (GRCh38)
10:118460572 (GRCh37)
Canonical SPDI:: NC_000010.11:116701060:T:A,NC_000010.11:116701060:T:C
Gene:: HSPA12A (Varview)
Functional Consequence:: intron_variant,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)
A=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.116701061T>A, NC_000010.11:g.116701061T>C, NC_000010.10:g.118460572T>A, NC_000010.10:g.118460572T>C, NW_025791790.1:g.112057T>A, NW_025791790.1:g.112057T>C, NW_003871069.1:g.112057T>A, NW_003871069.1:g.112057T>C, XM_005269673.6:c.371A>T, XM_005269673.6:c.371A>G, XM_005269673.5:c.371A>T, XM_005269673.5:c.371A>G, XM_005269673.4:c.371A>T, XM_005269673.4:c.371A>G, XM_005269673.3:c.371A>T, XM_005269673.3:c.371A>G, XM_005269673.2:c.371A>T, XM_005269673.2:c.371A>G, XM_005269673.1:c.371A>T, XM_005269673.1:c.371A>G, XM_011539579.3:c.371A>T, XM_011539579.3:c.371A>G, XM_011539579.2:c.371A>T, XM_011539579.2:c.371A>G, XM_011539579.1:c.371A>T, XM_011539579.1:c.371A>G, NM_025015.3:c.323A>T, NM_025015.3:c.323A>G, NM_025015.2:c.323A>T, NM_025015.2:c.323A>G, NM_001330164.2:c.374A>T, NM_001330164.2:c.374A>G, NM_001330164.1:c.374A>T, NM_001330164.1:c.374A>G, XM_047424971.1:c.74A>T, XM_047424971.1:c.74A>G, XP_005269730.1:p.Glu124Val, XP_005269730.1:p.Glu124Gly, XP_011537881.1:p.Glu124Val, XP_011537881.1:p.Glu124Gly, NP_079291.2:p.Glu108Val, NP_079291.2:p.Glu108Gly, NP_001317093.1:p.Glu125Val, NP_001317093.1:p.Glu125Gly, XP_047280927.1:p.Glu25Val, XP_047280927.1:p.Glu25Gly

Select item 143143377318.

rs1431433773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:116705221 (GRCh38)
10:118464732 (GRCh37)
Canonical SPDI:: NC_000010.11:116705220:C:A,NC_000010.11:116705220:C:T
Gene:: HSPA12A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.116705221C>A, NC_000010.11:g.116705221C>T, NC_000010.10:g.118464732C>A, NC_000010.10:g.118464732C>T, NW_025791790.1:g.116217C>A, NW_025791790.1:g.116217C>T, NW_003871069.1:g.116217C>A, NW_003871069.1:g.116217C>T, XM_005269673.6:c.232G>T, XM_005269673.6:c.232G>A, XM_005269673.5:c.232G>T, XM_005269673.5:c.232G>A, XM_005269673.4:c.232G>T, XM_005269673.4:c.232G>A, XM_005269673.3:c.232G>T, XM_005269673.3:c.232G>A, XM_005269673.2:c.232G>T, XM_005269673.2:c.232G>A, XM_005269673.1:c.232G>T, XM_005269673.1:c.232G>A, XM_011539579.3:c.232G>T, XM_011539579.3:c.232G>A, XM_011539579.2:c.232G>T, XM_011539579.2:c.232G>A, XM_011539579.1:c.232G>T, XM_011539579.1:c.232G>A, NM_025015.3:c.184G>T, NM_025015.3:c.184G>A, NM_025015.2:c.184G>T, NM_025015.2:c.184G>A, NM_001330164.2:c.235G>T, NM_001330164.2:c.235G>A, NM_001330164.1:c.235G>T, NM_001330164.1:c.235G>A, XM_047424971.1:c.-66G>T, XM_047424971.1:c.-66G>A, XM_047424972.1:c.-53G>T, XM_047424972.1:c.-53G>A, XP_005269730.1:p.Asp78Tyr, XP_005269730.1:p.Asp78Asn, XP_011537881.1:p.Asp78Tyr, XP_011537881.1:p.Asp78Asn, NP_079291.2:p.Asp62Tyr, NP_079291.2:p.Asp62Asn, NP_001317093.1:p.Asp79Tyr, NP_001317093.1:p.Asp79Asn

Select item 143104589319.

rs1431045893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:116674867 (GRCh38)
10:118434378 (GRCh37)
Canonical SPDI:: NC_000010.11:116674866:A:T
Gene:: HSPA12A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.116674867A>T, NC_000010.10:g.118434378A>T, NW_025791790.1:g.85863A>T, NW_003871069.1:g.85863A>T, XM_005269673.6:c.1990T>A, XM_005269673.5:c.1990T>A, XM_005269673.4:c.1990T>A, XM_005269673.3:c.1990T>A, XM_005269673.2:c.1990T>A, XM_005269673.1:c.1990T>A, XM_011539579.3:c.1990T>A, XM_011539579.2:c.1990T>A, XM_011539579.1:c.1990T>A, NM_025015.3:c.1942T>A, NM_025015.2:c.1942T>A, NM_001330164.2:c.1993T>A, NM_001330164.1:c.1993T>A, XM_047424971.1:c.1693T>A, XM_047424972.1:c.1414T>A, XP_005269730.1:p.Phe664Ile, XP_011537881.1:p.Phe664Ile, NP_079291.2:p.Phe648Ile, NP_001317093.1:p.Phe665Ile, XP_047280927.1:p.Phe565Ile, XP_047280928.1:p.Phe472Ile

Select item 142568241520.

rs1425682415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:116675101 (GRCh38)
10:118434612 (GRCh37)
Canonical SPDI:: NC_000010.11:116675100:T:C,NC_000010.11:116675100:T:G
Gene:: HSPA12A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000010.11:g.116675101T>C, NC_000010.11:g.116675101T>G, NC_000010.10:g.118434612T>C, NC_000010.10:g.118434612T>G, NW_025791790.1:g.86097T>C, NW_025791790.1:g.86097T>G, NW_003871069.1:g.86097T>C, NW_003871069.1:g.86097T>G, XM_005269673.6:c.1756A>G, XM_005269673.6:c.1756A>C, XM_005269673.5:c.1756A>G, XM_005269673.5:c.1756A>C, XM_005269673.4:c.1756A>G, XM_005269673.4:c.1756A>C, XM_005269673.3:c.1756A>G, XM_005269673.3:c.1756A>C, XM_005269673.2:c.1756A>G, XM_005269673.2:c.1756A>C, XM_005269673.1:c.1756A>G, XM_005269673.1:c.1756A>C, XM_011539579.3:c.1756A>G, XM_011539579.3:c.1756A>C, XM_011539579.2:c.1756A>G, XM_011539579.2:c.1756A>C, XM_011539579.1:c.1756A>G, XM_011539579.1:c.1756A>C, NM_025015.3:c.1708A>G, NM_025015.3:c.1708A>C, NM_025015.2:c.1708A>G, NM_025015.2:c.1708A>C, NM_001330164.2:c.1759A>G, NM_001330164.2:c.1759A>C, NM_001330164.1:c.1759A>G, NM_001330164.1:c.1759A>C, XM_047424971.1:c.1459A>G, XM_047424971.1:c.1459A>C, XM_047424972.1:c.1180A>G, XM_047424972.1:c.1180A>C, XP_005269730.1:p.Lys586Glu, XP_005269730.1:p.Lys586Gln, XP_011537881.1:p.Lys586Glu, XP_011537881.1:p.Lys586Gln, NP_079291.2:p.Lys570Glu, NP_079291.2:p.Lys570Gln, NP_001317093.1:p.Lys587Glu, NP_001317093.1:p.Lys587Gln, XP_047280927.1:p.Lys487Glu, XP_047280927.1:p.Lys487Gln, XP_047280928.1:p.Lys394Glu, XP_047280928.1:p.Lys394Gln

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 512

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