SNP Links for Protein (Select 977375424) - SNP

Links from Protein

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Select item 14900870341.

rs1490087034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96547465 (GRCh38)
2:97213202 (GRCh37)
Canonical SPDI:: NC_000002.12:96547464:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96547465C>T, NC_000002.11:g.97213202C>T, XM_011510499.3:c.98C>T, XM_011510499.2:c.98C>T, XM_011510499.1:c.98C>T, NM_212481.3:c.68C>T, NM_212481.2:c.68C>T, NM_212481.1:c.68C>T, XM_017003183.2:c.98C>T, XM_017003183.1:c.98C>T, NM_001319085.2:c.68C>T, NM_001319085.1:c.68C>T, NM_001319087.2:c.68C>T, NM_001319087.1:c.68C>T, NM_001319094.2:c.-394C>T, NM_001319094.1:c.-394C>T, NM_006673.2:c.68C>T, NM_001319096.2:c.-286C>T, NM_001319096.1:c.-286C>T, NM_001319093.2:c.-286C>T, NM_001319093.1:c.-286C>T, XM_047443000.1:c.98C>T, XM_047443002.1:c.-137C>T, XM_047443001.1:c.98C>T, NM_001319092.1:c.-137C>T, XM_047443003.1:c.-286C>T, NM_006673.1:c.-286C>T, XP_011508801.1:p.Ser33Phe, NP_997646.1:p.Ser23Phe, XP_016858672.1:p.Ser33Phe, NP_001306014.1:p.Ser23Phe, NP_001306016.1:p.Ser23Phe, XP_047298956.1:p.Ser33Phe, XP_047298957.1:p.Ser33Phe

Select item 14877175012.

rs1487717501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96551967 (GRCh38)
2:97217704 (GRCh37)
Canonical SPDI:: NC_000002.12:96551966:G:T
Gene:: ARID5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96551967G>T, NC_000002.11:g.97217704G>T, XM_011510499.3:c.1469G>T, XM_011510499.2:c.1469G>T, XM_011510499.1:c.1469G>T, NM_212481.3:c.1439G>T, NM_212481.2:c.1439G>T, NM_212481.1:c.1439G>T, XM_017003183.2:c.1628G>T, XM_017003183.1:c.1628G>T, NM_001319085.2:c.1601G>T, NM_001319085.1:c.1601G>T, NM_001319087.2:c.1598G>T, NM_001319087.1:c.1598G>T, NM_001319094.2:c.947G>T, NM_001319094.1:c.947G>T, NM_006673.2:c.*1123G>T, NM_001319096.2:c.947G>T, NM_001319096.1:c.947G>T, NM_001319093.2:c.947G>T, NM_001319093.1:c.947G>T, XM_047443000.1:c.1628G>T, XM_047443002.1:c.1394G>T, XM_047443001.1:c.1469G>T, NM_001319092.1:c.1235G>T, XM_047443003.1:c.947G>T, NM_006673.1:c.947G>T, XP_011508801.1:p.Gly490Val, NP_997646.1:p.Gly480Val, XP_016858672.1:p.Gly543Val, NP_001306014.1:p.Gly534Val, NP_001306016.1:p.Gly533Val, NP_001306023.1:p.Gly316Val, NP_001306025.1:p.Gly316Val, NP_001306022.1:p.Gly316Val, XP_047298956.1:p.Gly543Val, XP_047298958.1:p.Gly465Val, XP_047298957.1:p.Gly490Val, NP_001306021.1:p.Gly412Val, XP_047298959.1:p.Gly316Val

Select item 14870362703.

rs1487036270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:96551329 (GRCh38)
2:97217066 (GRCh37)
Canonical SPDI:: NC_000002.12:96551328:G:C
Gene:: ARID5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96551329G>C, NC_000002.11:g.97217066G>C, XM_011510499.3:c.831G>C, XM_011510499.2:c.831G>C, XM_011510499.1:c.831G>C, NM_212481.3:c.801G>C, NM_212481.2:c.801G>C, NM_212481.1:c.801G>C, XM_017003183.2:c.990G>C, XM_017003183.1:c.990G>C, NM_001319085.2:c.963G>C, NM_001319085.1:c.963G>C, NM_001319087.2:c.960G>C, NM_001319087.1:c.960G>C, NM_001319094.2:c.309G>C, NM_001319094.1:c.309G>C, NM_006673.2:c.*485G>C, NM_001319096.2:c.309G>C, NM_001319096.1:c.309G>C, NM_001319093.2:c.309G>C, NM_001319093.1:c.309G>C, XM_047443000.1:c.990G>C, XM_047443002.1:c.756G>C, XM_047443001.1:c.831G>C, NM_001319092.1:c.597G>C, XM_047443003.1:c.309G>C, NM_006673.1:c.309G>C

Select item 14867066224.

rs1486706622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96551785 (GRCh38)
2:97217522 (GRCh37)
Canonical SPDI:: NC_000002.12:96551784:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.96551785C>T, NC_000002.11:g.97217522C>T, XM_011510499.3:c.1287C>T, XM_011510499.2:c.1287C>T, XM_011510499.1:c.1287C>T, NM_212481.3:c.1257C>T, NM_212481.2:c.1257C>T, NM_212481.1:c.1257C>T, XM_017003183.2:c.1446C>T, XM_017003183.1:c.1446C>T, NM_001319085.2:c.1419C>T, NM_001319085.1:c.1419C>T, NM_001319087.2:c.1416C>T, NM_001319087.1:c.1416C>T, NM_001319094.2:c.765C>T, NM_001319094.1:c.765C>T, NM_006673.2:c.*941C>T, NM_001319096.2:c.765C>T, NM_001319096.1:c.765C>T, NM_001319093.2:c.765C>T, NM_001319093.1:c.765C>T, XM_047443000.1:c.1446C>T, XM_047443002.1:c.1212C>T, XM_047443001.1:c.1287C>T, NM_001319092.1:c.1053C>T, XM_047443003.1:c.765C>T, NM_006673.1:c.765C>T

Select item 14849143195.

rs1484914319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96549441 (GRCh38)
2:97215178 (GRCh37)
Canonical SPDI:: NC_000002.12:96549440:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96549441C>T, NC_000002.11:g.97215178C>T, XM_011510499.3:c.271C>T, XM_011510499.2:c.271C>T, XM_011510499.1:c.271C>T, NM_212481.3:c.241C>T, NM_212481.2:c.241C>T, NM_212481.1:c.241C>T, XM_017003183.2:c.271C>T, XM_017003183.1:c.271C>T, NM_001319085.2:c.241C>T, NM_001319085.1:c.241C>T, NM_001319087.2:c.241C>T, NM_001319087.1:c.241C>T, NM_001319094.2:c.-221C>T, NM_001319094.1:c.-221C>T, XM_047443000.1:c.271C>T, XM_047443002.1:c.37C>T, XM_047443001.1:c.271C>T, NM_001319092.1:c.37C>T, XP_011508801.1:p.His91Tyr, NP_997646.1:p.His81Tyr, XP_016858672.1:p.His91Tyr, NP_001306014.1:p.His81Tyr, NP_001306016.1:p.His81Tyr, XP_047298956.1:p.His91Tyr, XP_047298958.1:p.His13Tyr, XP_047298957.1:p.His91Tyr, NP_001306021.1:p.His13Tyr

Select item 14809809996.

rs1480980999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:96552270 (GRCh38)
2:97218007 (GRCh37)
Canonical SPDI:: NC_000002.12:96552269:C:A
Gene:: ARID5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96552270C>A, NC_000002.11:g.97218007C>A, XM_011510499.3:c.1772C>A, XM_011510499.2:c.1772C>A, XM_011510499.1:c.1772C>A, NM_212481.3:c.1742C>A, NM_212481.2:c.1742C>A, NM_212481.1:c.1742C>A, XM_017003183.2:c.1931C>A, XM_017003183.1:c.1931C>A, NM_001319085.2:c.1904C>A, NM_001319085.1:c.1904C>A, NM_001319087.2:c.1901C>A, NM_001319087.1:c.1901C>A, NM_001319094.2:c.1250C>A, NM_001319094.1:c.1250C>A, NM_006673.2:c.*1426C>A, NM_001319096.2:c.1250C>A, NM_001319096.1:c.1250C>A, NM_001319093.2:c.1250C>A, NM_001319093.1:c.1250C>A, XM_047443000.1:c.1931C>A, XM_047443002.1:c.1697C>A, XM_047443001.1:c.1772C>A, NM_001319092.1:c.1538C>A, XM_047443003.1:c.1250C>A, NM_006673.1:c.1250C>A, XP_011508801.1:p.Thr591Asn, NP_997646.1:p.Thr581Asn, XP_016858672.1:p.Thr644Asn, NP_001306014.1:p.Thr635Asn, NP_001306016.1:p.Thr634Asn, NP_001306023.1:p.Thr417Asn, NP_001306025.1:p.Thr417Asn, NP_001306022.1:p.Thr417Asn, XP_047298956.1:p.Thr644Asn, XP_047298958.1:p.Thr566Asn, XP_047298957.1:p.Thr591Asn, NP_001306021.1:p.Thr513Asn, XP_047298959.1:p.Thr417Asn

Select item 14787180127.

rs1478718012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:96549452 (GRCh38)
2:97215189 (GRCh37)
Canonical SPDI:: NC_000002.12:96549451:C:A
Gene:: ARID5A (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.96549452C>A, NC_000002.11:g.97215189C>A, XM_011510499.3:c.282C>A, XM_011510499.2:c.282C>A, XM_011510499.1:c.282C>A, NM_212481.3:c.252C>A, NM_212481.2:c.252C>A, NM_212481.1:c.252C>A, XM_017003183.2:c.282C>A, XM_017003183.1:c.282C>A, NM_001319085.2:c.252C>A, NM_001319085.1:c.252C>A, NM_001319087.2:c.252C>A, NM_001319087.1:c.252C>A, NM_001319094.2:c.-210C>A, NM_001319094.1:c.-210C>A, XM_047443000.1:c.282C>A, XM_047443002.1:c.48C>A, XM_047443001.1:c.282C>A, NM_001319092.1:c.48C>A, XP_011508801.1:p.Phe94Leu, NP_997646.1:p.Phe84Leu, XP_016858672.1:p.Phe94Leu, NP_001306014.1:p.Phe84Leu, NP_001306016.1:p.Phe84Leu, XP_047298956.1:p.Phe94Leu, XP_047298958.1:p.Phe16Leu, XP_047298957.1:p.Phe94Leu, NP_001306021.1:p.Phe16Leu

Select item 14782160098.

rs1478216009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:96549769 (GRCh38)
2:97215506 (GRCh37)
Canonical SPDI:: NC_000002.12:96549768:C:A,NC_000002.12:96549768:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96549769C>A, NC_000002.12:g.96549769C>T, NC_000002.11:g.97215506C>A, NC_000002.11:g.97215506C>T, XM_011510499.3:c.306C>A, XM_011510499.3:c.306C>T, XM_011510499.2:c.306C>A, XM_011510499.2:c.306C>T, XM_011510499.1:c.306C>A, XM_011510499.1:c.306C>T, NM_212481.3:c.276C>A, NM_212481.3:c.276C>T, NM_212481.2:c.276C>A, NM_212481.2:c.276C>T, NM_212481.1:c.276C>A, NM_212481.1:c.276C>T, XM_017003183.2:c.306C>A, XM_017003183.2:c.306C>T, XM_017003183.1:c.306C>A, XM_017003183.1:c.306C>T, NM_001319085.2:c.276C>A, NM_001319085.2:c.276C>T, NM_001319085.1:c.276C>A, NM_001319085.1:c.276C>T, NM_001319087.2:c.276C>A, NM_001319087.2:c.276C>T, NM_001319087.1:c.276C>A, NM_001319087.1:c.276C>T, NM_001319094.2:c.-186C>A, NM_001319094.2:c.-186C>T, NM_001319094.1:c.-186C>A, NM_001319094.1:c.-186C>T, NM_006673.2:c.137C>A, NM_006673.2:c.137C>T, NM_001319096.2:c.-217C>A, NM_001319096.2:c.-217C>T, NM_001319096.1:c.-217C>A, NM_001319096.1:c.-217C>T, NM_001319093.2:c.-217C>A, NM_001319093.2:c.-217C>T, NM_001319093.1:c.-217C>A, NM_001319093.1:c.-217C>T, XM_047443000.1:c.306C>A, XM_047443000.1:c.306C>T, XM_047443002.1:c.72C>A, XM_047443002.1:c.72C>T, XM_047443001.1:c.306C>A, XM_047443001.1:c.306C>T, NM_001319092.1:c.72C>A, NM_001319092.1:c.72C>T, XM_047443003.1:c.-217C>A, XM_047443003.1:c.-217C>T, NM_006673.1:c.-217C>A, NM_006673.1:c.-217C>T

Select item 14777932779.

rs1477793277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96551384 (GRCh38)
2:97217121 (GRCh37)
Canonical SPDI:: NC_000002.12:96551383:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.96551384C>T, NC_000002.11:g.97217121C>T, XM_011510499.3:c.886C>T, XM_011510499.2:c.886C>T, XM_011510499.1:c.886C>T, NM_212481.3:c.856C>T, NM_212481.2:c.856C>T, NM_212481.1:c.856C>T, XM_017003183.2:c.1045C>T, XM_017003183.1:c.1045C>T, NM_001319085.2:c.1018C>T, NM_001319085.1:c.1018C>T, NM_001319087.2:c.1015C>T, NM_001319087.1:c.1015C>T, NM_001319094.2:c.364C>T, NM_001319094.1:c.364C>T, NM_006673.2:c.*540C>T, NM_001319096.2:c.364C>T, NM_001319096.1:c.364C>T, NM_001319093.2:c.364C>T, NM_001319093.1:c.364C>T, XM_047443000.1:c.1045C>T, XM_047443002.1:c.811C>T, XM_047443001.1:c.886C>T, NM_001319092.1:c.652C>T, XM_047443003.1:c.364C>T, NM_006673.1:c.364C>T, XP_011508801.1:p.Pro296Ser, NP_997646.1:p.Pro286Ser, XP_016858672.1:p.Pro349Ser, NP_001306014.1:p.Pro340Ser, NP_001306016.1:p.Pro339Ser, NP_001306023.1:p.Pro122Ser, NP_001306025.1:p.Pro122Ser, NP_001306022.1:p.Pro122Ser, XP_047298956.1:p.Pro349Ser, XP_047298958.1:p.Pro271Ser, XP_047298957.1:p.Pro296Ser, NP_001306021.1:p.Pro218Ser, XP_047298959.1:p.Pro122Ser

Select item 147774172810.

rs1477741728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96550163 (GRCh38)
2:97215900 (GRCh37)
Canonical SPDI:: NC_000002.12:96550162:G:A
Gene:: ARID5A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.96550163G>A, NC_000002.11:g.97215900G>A, XM_017003183.2:c.477G>A, XM_017003183.1:c.477G>A, NM_001319085.2:c.450G>A, NM_001319085.1:c.450G>A, NM_001319087.2:c.447G>A, NM_001319087.1:c.447G>A, XM_047443000.1:c.477G>A, XM_047443002.1:c.243G>A

Select item 147728042211.

rs1477280422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:96551396 (GRCh38)
2:97217133 (GRCh37)
Canonical SPDI:: NC_000002.12:96551395:C:A,NC_000002.12:96551395:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.96551396C>A, NC_000002.12:g.96551396C>T, NC_000002.11:g.97217133C>A, NC_000002.11:g.97217133C>T, XM_011510499.3:c.898C>A, XM_011510499.3:c.898C>T, XM_011510499.2:c.898C>A, XM_011510499.2:c.898C>T, XM_011510499.1:c.898C>A, XM_011510499.1:c.898C>T, NM_212481.3:c.868C>A, NM_212481.3:c.868C>T, NM_212481.2:c.868C>A, NM_212481.2:c.868C>T, NM_212481.1:c.868C>A, NM_212481.1:c.868C>T, XM_017003183.2:c.1057C>A, XM_017003183.2:c.1057C>T, XM_017003183.1:c.1057C>A, XM_017003183.1:c.1057C>T, NM_001319085.2:c.1030C>A, NM_001319085.2:c.1030C>T, NM_001319085.1:c.1030C>A, NM_001319085.1:c.1030C>T, NM_001319087.2:c.1027C>A, NM_001319087.2:c.1027C>T, NM_001319087.1:c.1027C>A, NM_001319087.1:c.1027C>T, NM_001319094.2:c.376C>A, NM_001319094.2:c.376C>T, NM_001319094.1:c.376C>A, NM_001319094.1:c.376C>T, NM_006673.2:c.*552C>A, NM_006673.2:c.*552C>T, NM_001319096.2:c.376C>A, NM_001319096.2:c.376C>T, NM_001319096.1:c.376C>A, NM_001319096.1:c.376C>T, NM_001319093.2:c.376C>A, NM_001319093.2:c.376C>T, NM_001319093.1:c.376C>A, NM_001319093.1:c.376C>T, XM_047443000.1:c.1057C>A, XM_047443000.1:c.1057C>T, XM_047443002.1:c.823C>A, XM_047443002.1:c.823C>T, XM_047443001.1:c.898C>A, XM_047443001.1:c.898C>T, NM_001319092.1:c.664C>A, NM_001319092.1:c.664C>T, XM_047443003.1:c.376C>A, XM_047443003.1:c.376C>T, NM_006673.1:c.376C>A, NM_006673.1:c.376C>T, XP_011508801.1:p.Pro300Thr, XP_011508801.1:p.Pro300Ser, NP_997646.1:p.Pro290Thr, NP_997646.1:p.Pro290Ser, XP_016858672.1:p.Pro353Thr, XP_016858672.1:p.Pro353Ser, NP_001306014.1:p.Pro344Thr, NP_001306014.1:p.Pro344Ser, NP_001306016.1:p.Pro343Thr, NP_001306016.1:p.Pro343Ser, NP_001306023.1:p.Pro126Thr, NP_001306023.1:p.Pro126Ser, NP_001306025.1:p.Pro126Thr, NP_001306025.1:p.Pro126Ser, NP_001306022.1:p.Pro126Thr, NP_001306022.1:p.Pro126Ser, XP_047298956.1:p.Pro353Thr, XP_047298956.1:p.Pro353Ser, XP_047298958.1:p.Pro275Thr, XP_047298958.1:p.Pro275Ser, XP_047298957.1:p.Pro300Thr, XP_047298957.1:p.Pro300Ser, NP_001306021.1:p.Pro222Thr, NP_001306021.1:p.Pro222Ser, XP_047298959.1:p.Pro126Thr, XP_047298959.1:p.Pro126Ser

Select item 147716987412.

rs1477169874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:96552117 (GRCh38)
2:97217854 (GRCh37)
Canonical SPDI:: NC_000002.12:96552116:T:C
Gene:: ARID5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96552117T>C, NC_000002.11:g.97217854T>C, XM_011510499.3:c.1619T>C, XM_011510499.2:c.1619T>C, XM_011510499.1:c.1619T>C, NM_212481.3:c.1589T>C, NM_212481.2:c.1589T>C, NM_212481.1:c.1589T>C, XM_017003183.2:c.1778T>C, XM_017003183.1:c.1778T>C, NM_001319085.2:c.1751T>C, NM_001319085.1:c.1751T>C, NM_001319087.2:c.1748T>C, NM_001319087.1:c.1748T>C, NM_001319094.2:c.1097T>C, NM_001319094.1:c.1097T>C, NM_006673.2:c.*1273T>C, NM_001319096.2:c.1097T>C, NM_001319096.1:c.1097T>C, NM_001319093.2:c.1097T>C, NM_001319093.1:c.1097T>C, XM_047443000.1:c.1778T>C, XM_047443002.1:c.1544T>C, XM_047443001.1:c.1619T>C, NM_001319092.1:c.1385T>C, XM_047443003.1:c.1097T>C, NM_006673.1:c.1097T>C, XP_011508801.1:p.Val540Ala, NP_997646.1:p.Val530Ala, XP_016858672.1:p.Val593Ala, NP_001306014.1:p.Val584Ala, NP_001306016.1:p.Val583Ala, NP_001306023.1:p.Val366Ala, NP_001306025.1:p.Val366Ala, NP_001306022.1:p.Val366Ala, XP_047298956.1:p.Val593Ala, XP_047298958.1:p.Val515Ala, XP_047298957.1:p.Val540Ala, NP_001306021.1:p.Val462Ala, XP_047298959.1:p.Val366Ala

Select item 147532409513.

rs1475324095 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGAACTTC>- [Show Flanks]
Chromosome:: 2:96552052 (GRCh38)
2:97217789 (GRCh37)
Canonical SPDI:: NC_000002.12:96552050:CGCTGAACTTC:C
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96552052_96552061del, NC_000002.11:g.97217789_97217798del, XM_011510499.3:c.1554_1563del, XM_011510499.2:c.1554_1563del, XM_011510499.1:c.1554_1563del, NM_212481.3:c.1524_1533del, NM_212481.2:c.1524_1533del, NM_212481.1:c.1524_1533del, XM_017003183.2:c.1713_1722del, XM_017003183.1:c.1713_1722del, NM_001319085.2:c.1686_1695del, NM_001319085.1:c.1686_1695del, NM_001319087.2:c.1683_1692del, NM_001319087.1:c.1683_1692del, NM_001319094.2:c.1032_1041del, NM_001319094.1:c.1032_1041del, NM_006673.2:c.*1208_*1217del, NM_001319096.2:c.1032_1041del, NM_001319096.1:c.1032_1041del, NM_001319093.2:c.1032_1041del, NM_001319093.1:c.1032_1041del, XM_047443000.1:c.1713_1722del, XM_047443002.1:c.1479_1488del, XM_047443001.1:c.1554_1563del, NM_001319092.1:c.1320_1329del, XM_047443003.1:c.1032_1041del, NM_006673.1:c.1032_1041del, XP_011508801.1:p.Asn520fs, NP_997646.1:p.Asn510fs, XP_016858672.1:p.Asn573fs, NP_001306014.1:p.Asn564fs, NP_001306016.1:p.Asn563fs, NP_001306023.1:p.Asn346fs, NP_001306025.1:p.Asn346fs, NP_001306022.1:p.Asn346fs, XP_047298956.1:p.Asn573fs, XP_047298958.1:p.Asn495fs, XP_047298957.1:p.Asn520fs, NP_001306021.1:p.Asn442fs, XP_047298959.1:p.Asn346fs

Select item 147175503714.

rs1471755037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:96551752 (GRCh38)
2:97217489 (GRCh37)
Canonical SPDI:: NC_000002.12:96551751:C:G
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.96551752C>G, NC_000002.11:g.97217489C>G, XM_011510499.3:c.1254C>G, XM_011510499.2:c.1254C>G, XM_011510499.1:c.1254C>G, NM_212481.3:c.1224C>G, NM_212481.2:c.1224C>G, NM_212481.1:c.1224C>G, XM_017003183.2:c.1413C>G, XM_017003183.1:c.1413C>G, NM_001319085.2:c.1386C>G, NM_001319085.1:c.1386C>G, NM_001319087.2:c.1383C>G, NM_001319087.1:c.1383C>G, NM_001319094.2:c.732C>G, NM_001319094.1:c.732C>G, NM_006673.2:c.*908C>G, NM_001319096.2:c.732C>G, NM_001319096.1:c.732C>G, NM_001319093.2:c.732C>G, NM_001319093.1:c.732C>G, XM_047443000.1:c.1413C>G, XM_047443002.1:c.1179C>G, XM_047443001.1:c.1254C>G, NM_001319092.1:c.1020C>G, XM_047443003.1:c.732C>G, NM_006673.1:c.732C>G, XP_011508801.1:p.Ile418Met, NP_997646.1:p.Ile408Met, XP_016858672.1:p.Ile471Met, NP_001306014.1:p.Ile462Met, NP_001306016.1:p.Ile461Met, NP_001306023.1:p.Ile244Met, NP_001306025.1:p.Ile244Met, NP_001306022.1:p.Ile244Met, XP_047298956.1:p.Ile471Met, XP_047298958.1:p.Ile393Met, XP_047298957.1:p.Ile418Met, NP_001306021.1:p.Ile340Met, XP_047298959.1:p.Ile244Met

Select item 147016557015.

rs1470165570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:96551540 (GRCh38)
2:97217277 (GRCh37)
Canonical SPDI:: NC_000002.12:96551539:C:G
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96551540C>G, NC_000002.11:g.97217277C>G, XM_011510499.3:c.1042C>G, XM_011510499.2:c.1042C>G, XM_011510499.1:c.1042C>G, NM_212481.3:c.1012C>G, NM_212481.2:c.1012C>G, NM_212481.1:c.1012C>G, XM_017003183.2:c.1201C>G, XM_017003183.1:c.1201C>G, NM_001319085.2:c.1174C>G, NM_001319085.1:c.1174C>G, NM_001319087.2:c.1171C>G, NM_001319087.1:c.1171C>G, NM_001319094.2:c.520C>G, NM_001319094.1:c.520C>G, NM_006673.2:c.*696C>G, NM_001319096.2:c.520C>G, NM_001319096.1:c.520C>G, NM_001319093.2:c.520C>G, NM_001319093.1:c.520C>G, XM_047443000.1:c.1201C>G, XM_047443002.1:c.967C>G, XM_047443001.1:c.1042C>G, NM_001319092.1:c.808C>G, XM_047443003.1:c.520C>G, NM_006673.1:c.520C>G, XP_011508801.1:p.Pro348Ala, NP_997646.1:p.Pro338Ala, XP_016858672.1:p.Pro401Ala, NP_001306014.1:p.Pro392Ala, NP_001306016.1:p.Pro391Ala, NP_001306023.1:p.Pro174Ala, NP_001306025.1:p.Pro174Ala, NP_001306022.1:p.Pro174Ala, XP_047298956.1:p.Pro401Ala, XP_047298958.1:p.Pro323Ala, XP_047298957.1:p.Pro348Ala, NP_001306021.1:p.Pro270Ala, XP_047298959.1:p.Pro174Ala

Select item 146879862616.

rs1468798626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96551836 (GRCh38)
2:97217573 (GRCh37)
Canonical SPDI:: NC_000002.12:96551835:C:T
Gene:: ARID5A (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=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96551836C>T, NC_000002.11:g.97217573C>T, XM_011510499.3:c.1338C>T, XM_011510499.2:c.1338C>T, XM_011510499.1:c.1338C>T, NM_212481.3:c.1308C>T, NM_212481.2:c.1308C>T, NM_212481.1:c.1308C>T, XM_017003183.2:c.1497C>T, XM_017003183.1:c.1497C>T, NM_001319085.2:c.1470C>T, NM_001319085.1:c.1470C>T, NM_001319087.2:c.1467C>T, NM_001319087.1:c.1467C>T, NM_001319094.2:c.816C>T, NM_001319094.1:c.816C>T, NM_006673.2:c.*992C>T, NM_001319096.2:c.816C>T, NM_001319096.1:c.816C>T, NM_001319093.2:c.816C>T, NM_001319093.1:c.816C>T, XM_047443000.1:c.1497C>T, XM_047443002.1:c.1263C>T, XM_047443001.1:c.1338C>T, NM_001319092.1:c.1104C>T, XM_047443003.1:c.816C>T, NM_006673.1:c.816C>T

Select item 146875904517.

rs1468759045 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCGGC>- [Show Flanks]
Chromosome:: 2:96551457 (GRCh38)
2:97217194 (GRCh37)
Canonical SPDI:: NC_000002.12:96551453:GGCACCGGC:GGC
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GGC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.96551457_96551462del, NC_000002.11:g.97217194_97217199del, XM_011510499.3:c.959_964del, XM_011510499.2:c.959_964del, XM_011510499.1:c.959_964del, NM_212481.3:c.929_934del, NM_212481.2:c.929_934del, NM_212481.1:c.929_934del, XM_017003183.2:c.1118_1123del, XM_017003183.1:c.1118_1123del, NM_001319085.2:c.1091_1096del, NM_001319085.1:c.1091_1096del, NM_001319087.2:c.1088_1093del, NM_001319087.1:c.1088_1093del, NM_001319094.2:c.437_442del, NM_001319094.1:c.437_442del, NM_006673.2:c.*613_*618del, NM_001319096.2:c.437_442del, NM_001319096.1:c.437_442del, NM_001319093.2:c.437_442del, NM_001319093.1:c.437_442del, XM_047443000.1:c.1118_1123del, XM_047443002.1:c.884_889del, XM_047443001.1:c.959_964del, NM_001319092.1:c.725_730del, XM_047443003.1:c.437_442del, NM_006673.1:c.437_442del, XP_011508801.1:p.His320_Arg321del, NP_997646.1:p.His310_Arg311del, XP_016858672.1:p.His373_Arg374del, NP_001306014.1:p.His364_Arg365del, NP_001306016.1:p.His363_Arg364del, NP_001306023.1:p.His146_Arg147del, NP_001306025.1:p.His146_Arg147del, NP_001306022.1:p.His146_Arg147del, XP_047298956.1:p.His373_Arg374del, XP_047298958.1:p.His295_Arg296del, XP_047298957.1:p.His320_Arg321del, NP_001306021.1:p.His242_Arg243del, XP_047298959.1:p.His146_Arg147del

Select item 146796455018.

rs1467964550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96550250 (GRCh38)
2:97215987 (GRCh37)
Canonical SPDI:: NC_000002.12:96550249:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
HGVS:: NC_000002.12:g.96550250C>T, NC_000002.11:g.97215987C>T, XM_011510499.3:c.405C>T, XM_011510499.2:c.405C>T, XM_011510499.1:c.405C>T, NM_212481.3:c.375C>T, NM_212481.2:c.375C>T, NM_212481.1:c.375C>T, XM_017003183.2:c.564C>T, XM_017003183.1:c.564C>T, NM_001319085.2:c.537C>T, NM_001319085.1:c.537C>T, NM_001319087.2:c.534C>T, NM_001319087.1:c.534C>T, NM_001319094.2:c.-87C>T, NM_001319094.1:c.-87C>T, NM_006673.2:c.*59C>T, NM_001319096.2:c.-118C>T, NM_001319096.1:c.-118C>T, NM_001319093.2:c.-118C>T, NM_001319093.1:c.-118C>T, XM_047443000.1:c.564C>T, XM_047443002.1:c.330C>T, XM_047443001.1:c.405C>T, NM_001319092.1:c.171C>T, XM_047443003.1:c.-118C>T, NM_006673.1:c.-118C>T

Select item 146696794619.

rs1466967946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96549365 (GRCh38)
2:97215102 (GRCh37)
Canonical SPDI:: NC_000002.12:96549364:G:T
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96549365G>T, NC_000002.11:g.97215102G>T, XM_011510499.3:c.195G>T, XM_011510499.2:c.195G>T, XM_011510499.1:c.195G>T, NM_212481.3:c.165G>T, NM_212481.2:c.165G>T, NM_212481.1:c.165G>T, XM_017003183.2:c.195G>T, XM_017003183.1:c.195G>T, NM_001319085.2:c.165G>T, NM_001319085.1:c.165G>T, NM_001319087.2:c.165G>T, NM_001319087.1:c.165G>T, NM_001319094.2:c.-297G>T, NM_001319094.1:c.-297G>T, XM_047443000.1:c.195G>T, XM_047443002.1:c.-40G>T, XM_047443001.1:c.195G>T, NM_001319092.1:c.-40G>T

Select item 146696539720.

rs1466965397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96550687 (GRCh38)
2:97216424 (GRCh37)
Canonical SPDI:: NC_000002.12:96550686:C:T
Gene:: ARID5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.96550687C>T, NC_000002.11:g.97216424C>T, XM_011510499.3:c.554C>T, XM_011510499.2:c.554C>T, XM_011510499.1:c.554C>T, NM_212481.3:c.524C>T, NM_212481.2:c.524C>T, NM_212481.1:c.524C>T, XM_017003183.2:c.713C>T, XM_017003183.1:c.713C>T, NM_001319085.2:c.686C>T, NM_001319085.1:c.686C>T, NM_001319087.2:c.683C>T, NM_001319087.1:c.683C>T, NM_001319094.2:c.32C>T, NM_001319094.1:c.32C>T, NM_006673.2:c.*208C>T, NM_001319096.2:c.32C>T, NM_001319096.1:c.32C>T, NM_001319093.2:c.32C>T, NM_001319093.1:c.32C>T, XM_047443000.1:c.713C>T, XM_047443002.1:c.479C>T, XM_047443001.1:c.554C>T, NM_001319092.1:c.320C>T, XM_047443003.1:c.32C>T, NM_006673.1:c.32C>T, XP_011508801.1:p.Ala185Val, NP_997646.1:p.Ala175Val, XP_016858672.1:p.Ala238Val, NP_001306014.1:p.Ala229Val, NP_001306016.1:p.Ala228Val, NP_001306023.1:p.Ala11Val, NP_001306025.1:p.Ala11Val, NP_001306022.1:p.Ala11Val, XP_047298956.1:p.Ala238Val, XP_047298958.1:p.Ala160Val, XP_047298957.1:p.Ala185Val, NP_001306021.1:p.Ala107Val, XP_047298959.1:p.Ala11Val

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