SNP Links for Protein (Select 557636691) - SNP

Select item 14818118441.

rs1481811844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30137089 (GRCh38)
6:30104866 (GRCh37)
Canonical SPDI:: NC_000006.12:30137088:A:G
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30137089A>G, NC_000006.11:g.30104866A>G, NG_033972.1:g.5982A>G, NM_138700.4:c.53A>G, NM_138700.3:c.53A>G, NM_001286633.2:c.53A>G, NM_001286633.1:c.53A>G, NT_113891.3:g.1616894A>G, NT_113891.2:g.1617000A>G, NT_167246.2:g.1447811A>G, NT_167246.1:g.1453431A>G, NT_167245.2:g.1393007A>G, NT_167245.1:g.1398592A>G, NT_167248.2:g.1392217A>G, NT_167248.1:g.1397813A>G, NT_167249.2:g.1436028A>G, NT_167249.1:g.1435326A>G, NT_167247.2:g.1481178A>G, NT_167247.1:g.1486763A>G, NT_167244.2:g.1395185A>G, NT_167244.1:g.1345101A>G, XM_011514309.2:c.53A>G, XM_011514309.1:c.53A>G, XM_011514306.2:c.53A>G, XM_011514306.1:c.53A>G, NP_619645.1:p.Gln18Arg, NP_001273562.1:p.Gln18Arg, XP_011512611.1:p.Gln18Arg, XP_011512608.1:p.Gln18Arg

Select item 14814762082.

rs1481476208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30146000 (GRCh38)
6:30113777 (GRCh37)
Canonical SPDI:: NC_000006.12:30145999:C:T
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30146000C>T, NC_000006.11:g.30113777C>T, NG_033972.1:g.14893C>T, NM_138700.4:c.352C>T, NM_138700.3:c.352C>T, NM_001286633.2:c.352C>T, NM_001286633.1:c.352C>T, NT_113891.3:g.1625808C>T, NT_113891.2:g.1625914C>T, NT_167246.2:g.1456722C>T, NT_167246.1:g.1462342C>T, NT_167245.2:g.1401917C>T, NT_167245.1:g.1407502C>T, NT_167248.2:g.1401129C>T, NT_167248.1:g.1406725C>T, NT_167249.2:g.1444932C>T, NT_167249.1:g.1444230C>T, NT_167247.2:g.1490082C>T, NT_167247.1:g.1495667C>T, NT_167244.2:g.1404096C>T, NT_167244.1:g.1354012C>T, XM_011514309.2:c.352C>T, XM_011514309.1:c.352C>T, XM_011514306.2:c.352C>T, XM_011514306.1:c.352C>T, NP_619645.1:p.Leu118Phe, NP_001273562.1:p.Leu118Phe, XP_011512611.1:p.Leu118Phe, XP_011512608.1:p.Leu118Phe

Select item 14765592583.

rs1476559258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30137075 (GRCh38)
6:30104852 (GRCh37)
Canonical SPDI:: NC_000006.12:30137074:C:A
Gene:: TRIM40 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.30137075C>A, NC_000006.11:g.30104852C>A, NG_033972.1:g.5968C>A, NM_138700.4:c.39C>A, NM_138700.3:c.39C>A, NM_001286633.2:c.39C>A, NM_001286633.1:c.39C>A, NT_113891.3:g.1616880C>A, NT_113891.2:g.1616986C>A, NT_167246.2:g.1447797C>A, NT_167246.1:g.1453417C>A, NT_167245.2:g.1392993C>A, NT_167245.1:g.1398578C>A, NT_167248.2:g.1392203C>A, NT_167248.1:g.1397799C>A, NT_167249.2:g.1436014C>A, NT_167249.1:g.1435312C>A, NT_167247.2:g.1481164C>A, NT_167247.1:g.1486749C>A, NT_167244.2:g.1395171C>A, NT_167244.1:g.1345087C>A, XM_011514309.2:c.39C>A, XM_011514309.1:c.39C>A, XM_011514306.2:c.39C>A, XM_011514306.1:c.39C>A

Select item 14715450064.

rs1471545006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30147016 (GRCh38)
6:30114793 (GRCh37)
Canonical SPDI:: NC_000006.12:30147015:A:G
Gene:: TRIM40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.30147016A>G, NC_000006.11:g.30114793A>G, NG_033972.1:g.15909A>G, NM_001286633.2:c.473A>G, NM_001286633.1:c.473A>G, NT_113891.3:g.1626824A>G, NT_113891.2:g.1626930A>G, NT_167246.2:g.1457738A>G, NT_167246.1:g.1463358A>G, NT_167245.2:g.1402933A>G, NT_167245.1:g.1408518A>G, NT_167248.2:g.1402145A>G, NT_167248.1:g.1407741A>G, NT_167249.2:g.1445948A>G, NT_167249.1:g.1445246A>G, NT_167247.2:g.1491098A>G, NT_167247.1:g.1496683A>G, NT_167244.2:g.1405112A>G, NT_167244.1:g.1355028A>G, XM_011514309.2:c.473A>G, XM_011514309.1:c.473A>G, XM_011514306.2:c.473A>G, XM_011514306.1:c.473A>G, NP_001273562.1:p.Glu158Gly, XP_011512611.1:p.Glu158Gly, XP_011512608.1:p.Glu158Gly

Select item 14661385665.

rs1466138566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:30137340 (GRCh38)
6:30105117 (GRCh37)
Canonical SPDI:: NC_000006.12:30137339:C:G,NC_000006.12:30137339:C:T
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
HGVS:: NC_000006.12:g.30137340C>G, NC_000006.12:g.30137340C>T, NC_000006.11:g.30105117C>G, NC_000006.11:g.30105117C>T, NG_033972.1:g.6233C>G, NG_033972.1:g.6233C>T, NM_138700.4:c.304C>G, NM_138700.4:c.304C>T, NM_138700.3:c.304C>G, NM_138700.3:c.304C>T, NM_001286633.2:c.304C>G, NM_001286633.2:c.304C>T, NM_001286633.1:c.304C>G, NM_001286633.1:c.304C>T, NT_113891.3:g.1617145C>G, NT_113891.3:g.1617145C>T, NT_113891.2:g.1617251C>G, NT_113891.2:g.1617251C>T, NT_167246.2:g.1448062C>G, NT_167246.2:g.1448062C>T, NT_167246.1:g.1453682C>G, NT_167246.1:g.1453682C>T, NT_167245.2:g.1393258C>G, NT_167245.2:g.1393258C>T, NT_167245.1:g.1398843C>G, NT_167245.1:g.1398843C>T, NT_167248.2:g.1392468C>G, NT_167248.2:g.1392468C>T, NT_167248.1:g.1398064C>G, NT_167248.1:g.1398064C>T, NT_167249.2:g.1436279C>G, NT_167249.2:g.1436279C>T, NT_167249.1:g.1435577C>G, NT_167249.1:g.1435577C>T, NT_167247.2:g.1481429C>G, NT_167247.2:g.1481429C>T, NT_167247.1:g.1487014C>G, NT_167247.1:g.1487014C>T, NT_167244.2:g.1395436C>G, NT_167244.2:g.1395436C>T, NT_167244.1:g.1345352C>G, NT_167244.1:g.1345352C>T, XM_011514309.2:c.304C>G, XM_011514309.2:c.304C>T, XM_011514309.1:c.304C>G, XM_011514309.1:c.304C>T, XM_011514306.2:c.304C>G, XM_011514306.2:c.304C>T, XM_011514306.1:c.304C>G, XM_011514306.1:c.304C>T, NP_619645.1:p.His102Asp, NP_619645.1:p.His102Tyr, NP_001273562.1:p.His102Asp, NP_001273562.1:p.His102Tyr, XP_011512611.1:p.His102Asp, XP_011512611.1:p.His102Tyr, XP_011512608.1:p.His102Asp, XP_011512608.1:p.His102Tyr

Select item 14659201936.

rs1465920193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30147150 (GRCh38)
6:30114927 (GRCh37)
Canonical SPDI:: NC_000006.12:30147149:A:G
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30147150A>G, NC_000006.11:g.30114927A>G, NG_033972.1:g.16043A>G, NM_138700.4:c.520A>G, NM_138700.3:c.520A>G, NM_001286633.2:c.607A>G, NM_001286633.1:c.607A>G, NT_113891.3:g.1626958A>G, NT_113891.2:g.1627064A>G, NT_167246.2:g.1457872A>G, NT_167246.1:g.1463492A>G, NT_167245.2:g.1403067A>G, NT_167245.1:g.1408652A>G, NT_167248.2:g.1402279A>G, NT_167248.1:g.1407875A>G, NT_167249.2:g.1446082A>G, NT_167249.1:g.1445380A>G, NT_167247.2:g.1491232A>G, NT_167247.1:g.1496817A>G, NT_167244.2:g.1405246A>G, NT_167244.1:g.1355162A>G, XM_011514309.2:c.607A>G, XM_011514309.1:c.607A>G, XM_011514306.2:c.607A>G, XM_011514306.1:c.607A>G, NP_619645.1:p.Arg174Gly, NP_001273562.1:p.Arg203Gly, XP_011512611.1:p.Arg203Gly, XP_011512608.1:p.Arg203Gly

Select item 14483748967.

rs1448374896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30147737 (GRCh38)
6:30115514 (GRCh37)
Canonical SPDI:: NC_000006.12:30147736:G:A
Gene:: TRIM40 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30147737G>A, NC_000006.11:g.30115514G>A, NG_033972.1:g.16630G>A, NM_138700.4:c.615G>A, NM_138700.3:c.615G>A, NM_001286633.2:c.702G>A, NM_001286633.1:c.702G>A, NT_113891.3:g.1627545G>A, NT_113891.2:g.1627651G>A, NT_167246.2:g.1458459G>A, NT_167246.1:g.1464079G>A, NT_167245.2:g.1403654G>A, NT_167245.1:g.1409239G>A, NT_167248.2:g.1402866G>A, NT_167248.1:g.1408462G>A, NT_167249.2:g.1446669G>A, NT_167249.1:g.1445967G>A, NT_167247.2:g.1491819G>A, NT_167247.1:g.1497404G>A, NT_167244.2:g.1405833G>A, NT_167244.1:g.1355749G>A, XM_011514309.2:c.679G>A, XM_011514309.1:c.679G>A, XM_011514306.2:c.702G>A, XM_011514306.1:c.702G>A, XP_011512611.1:p.Glu227Lys

Select item 14450021828.

rs1445002182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30147138 (GRCh38)
6:30114915 (GRCh37)
Canonical SPDI:: NC_000006.12:30147137:G:T
Gene:: TRIM40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30147138G>T, NC_000006.11:g.30114915G>T, NG_033972.1:g.16031G>T, NM_138700.4:c.508G>T, NM_138700.3:c.508G>T, NM_001286633.2:c.595G>T, NM_001286633.1:c.595G>T, NT_113891.3:g.1626946G>T, NT_113891.2:g.1627052G>T, NT_167246.2:g.1457860G>T, NT_167246.1:g.1463480G>T, NT_167245.2:g.1403055G>T, NT_167245.1:g.1408640G>T, NT_167248.2:g.1402267G>T, NT_167248.1:g.1407863G>T, NT_167249.2:g.1446070G>T, NT_167249.1:g.1445368G>T, NT_167247.2:g.1491220G>T, NT_167247.1:g.1496805G>T, NT_167244.2:g.1405234G>T, NT_167244.1:g.1355150G>T, XM_011514309.2:c.595G>T, XM_011514309.1:c.595G>T, XM_011514306.2:c.595G>T, XM_011514306.1:c.595G>T, NP_619645.1:p.Val170Leu, NP_001273562.1:p.Val199Leu, XP_011512611.1:p.Val199Leu, XP_011512608.1:p.Val199Leu

Select item 14371099349.

rs1437109934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30147017 (GRCh38)
6:30114794 (GRCh37)
Canonical SPDI:: NC_000006.12:30147016:G:A
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30147017G>A, NC_000006.11:g.30114794G>A, NG_033972.1:g.15910G>A, NM_001286633.2:c.474G>A, NM_001286633.1:c.474G>A, NT_113891.3:g.1626825G>A, NT_113891.2:g.1626931G>A, NT_167246.2:g.1457739G>A, NT_167246.1:g.1463359G>A, NT_167245.2:g.1402934G>A, NT_167245.1:g.1408519G>A, NT_167248.2:g.1402146G>A, NT_167248.1:g.1407742G>A, NT_167249.2:g.1445949G>A, NT_167249.1:g.1445247G>A, NT_167247.2:g.1491099G>A, NT_167247.1:g.1496684G>A, NT_167244.2:g.1405113G>A, NT_167244.1:g.1355029G>A, XM_011514309.2:c.474G>A, XM_011514309.1:c.474G>A, XM_011514306.2:c.474G>A, XM_011514306.1:c.474G>A

Select item 143681850110.

rs1436818501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30147162 (GRCh38)
6:30114939 (GRCh37)
Canonical SPDI:: NC_000006.12:30147161:A:C
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30147162A>C, NC_000006.11:g.30114939A>C, NG_033972.1:g.16055A>C, NM_138700.4:c.532A>C, NM_138700.3:c.532A>C, NM_001286633.2:c.619A>C, NM_001286633.1:c.619A>C, NT_113891.3:g.1626970A>C, NT_113891.2:g.1627076A>C, NT_167246.2:g.1457884A>C, NT_167246.1:g.1463504A>C, NT_167245.2:g.1403079A>C, NT_167245.1:g.1408664A>C, NT_167248.2:g.1402291A>C, NT_167248.1:g.1407887A>C, NT_167249.2:g.1446094A>C, NT_167249.1:g.1445392A>C, NT_167247.2:g.1491244A>C, NT_167247.1:g.1496829A>C, NT_167244.2:g.1405258A>C, NT_167244.1:g.1355174A>C, XM_011514309.2:c.619A>C, XM_011514309.1:c.619A>C, XM_011514306.2:c.619A>C, XM_011514306.1:c.619A>C, NP_619645.1:p.Ile178Leu, NP_001273562.1:p.Ile207Leu, XP_011512611.1:p.Ile207Leu, XP_011512608.1:p.Ile207Leu

Select item 143643414811.

rs1436434148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30147071 (GRCh38)
6:30114848 (GRCh37)
Canonical SPDI:: NC_000006.12:30147070:G:A
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.30147071G>A, NC_000006.11:g.30114848G>A, NG_033972.1:g.15964G>A, NM_001286633.2:c.528G>A, NM_001286633.1:c.528G>A, NT_113891.3:g.1626879G>A, NT_113891.2:g.1626985G>A, NT_167246.2:g.1457793G>A, NT_167246.1:g.1463413G>A, NT_167245.2:g.1402988G>A, NT_167245.1:g.1408573G>A, NT_167248.2:g.1402200G>A, NT_167248.1:g.1407796G>A, NT_167249.2:g.1446003G>A, NT_167249.1:g.1445301G>A, NT_167247.2:g.1491153G>A, NT_167247.1:g.1496738G>A, NT_167244.2:g.1405167G>A, NT_167244.1:g.1355083G>A, XM_011514309.2:c.528G>A, XM_011514309.1:c.528G>A, XM_011514306.2:c.528G>A, XM_011514306.1:c.528G>A

Select item 143370757312.

rs1433707573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30146057 (GRCh38)
6:30113834 (GRCh37)
Canonical SPDI:: NC_000006.12:30146056:G:C
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.30146057G>C, NC_000006.11:g.30113834G>C, NG_033972.1:g.14950G>C, NM_138700.4:c.409G>C, NM_138700.3:c.409G>C, NM_001286633.2:c.409G>C, NM_001286633.1:c.409G>C, NT_113891.3:g.1625865G>C, NT_113891.2:g.1625971G>C, NT_167246.2:g.1456779G>C, NT_167246.1:g.1462399G>C, NT_167245.2:g.1401974G>C, NT_167245.1:g.1407559G>C, NT_167248.2:g.1401186G>C, NT_167248.1:g.1406782G>C, NT_167249.2:g.1444989G>C, NT_167249.1:g.1444287G>C, NT_167247.2:g.1490139G>C, NT_167247.1:g.1495724G>C, NT_167244.2:g.1404153G>C, NT_167244.1:g.1354069G>C, XM_011514309.2:c.409G>C, XM_011514309.1:c.409G>C, XM_011514306.2:c.409G>C, XM_011514306.1:c.409G>C, NP_619645.1:p.Ala137Pro, NP_001273562.1:p.Ala137Pro, XP_011512611.1:p.Ala137Pro, XP_011512608.1:p.Ala137Pro

Select item 143343562213.

rs1433435622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30147124 (GRCh38)
6:30114901 (GRCh37)
Canonical SPDI:: NC_000006.12:30147123:A:G
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.30147124A>G, NC_000006.11:g.30114901A>G, NG_033972.1:g.16017A>G, NM_138700.4:c.494A>G, NM_138700.3:c.494A>G, NM_001286633.2:c.581A>G, NM_001286633.1:c.581A>G, NT_113891.3:g.1626932A>G, NT_113891.2:g.1627038A>G, NT_167246.2:g.1457846A>G, NT_167246.1:g.1463466A>G, NT_167245.2:g.1403041A>G, NT_167245.1:g.1408626A>G, NT_167248.2:g.1402253A>G, NT_167248.1:g.1407849A>G, NT_167249.2:g.1446056A>G, NT_167249.1:g.1445354A>G, NT_167247.2:g.1491206A>G, NT_167247.1:g.1496791A>G, NT_167244.2:g.1405220A>G, NT_167244.1:g.1355136A>G, XM_011514309.2:c.581A>G, XM_011514309.1:c.581A>G, XM_011514306.2:c.581A>G, XM_011514306.1:c.581A>G, NP_619645.1:p.Asp165Gly, NP_001273562.1:p.Asp194Gly, XP_011512611.1:p.Asp194Gly, XP_011512608.1:p.Asp194Gly

Select item 143266866814.

rs1432668668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30147205 (GRCh38)
6:30114982 (GRCh37)
Canonical SPDI:: NC_000006.12:30147204:T:C
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.30147205T>C, NC_000006.11:g.30114982T>C, NG_033972.1:g.16098T>C, NM_138700.4:c.575T>C, NM_138700.3:c.575T>C, NM_001286633.2:c.662T>C, NM_001286633.1:c.662T>C, NT_113891.3:g.1627013T>C, NT_113891.2:g.1627119T>C, NT_167246.2:g.1457927T>C, NT_167246.1:g.1463547T>C, NT_167245.2:g.1403122T>C, NT_167245.1:g.1408707T>C, NT_167248.2:g.1402334T>C, NT_167248.1:g.1407930T>C, NT_167249.2:g.1446137T>C, NT_167249.1:g.1445435T>C, NT_167247.2:g.1491287T>C, NT_167247.1:g.1496872T>C, NT_167244.2:g.1405301T>C, NT_167244.1:g.1355217T>C, XM_011514309.2:c.662T>C, XM_011514309.1:c.662T>C, XM_011514306.2:c.662T>C, XM_011514306.1:c.662T>C, NP_619645.1:p.Leu192Pro, NP_001273562.1:p.Leu221Pro, XP_011512611.1:p.Leu221Pro, XP_011512608.1:p.Leu221Pro

Select item 142728846715.

rs1427288467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30137365 (GRCh38)
6:30105142 (GRCh37)
Canonical SPDI:: NC_000006.12:30137364:C:T
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30137365C>T, NC_000006.11:g.30105142C>T, NG_033972.1:g.6258C>T, NM_138700.4:c.329C>T, NM_138700.3:c.329C>T, NM_001286633.2:c.329C>T, NM_001286633.1:c.329C>T, NT_113891.3:g.1617170C>T, NT_113891.2:g.1617276C>T, NT_167246.2:g.1448087C>T, NT_167246.1:g.1453707C>T, NT_167245.2:g.1393283C>T, NT_167245.1:g.1398868C>T, NT_167248.2:g.1392493C>T, NT_167248.1:g.1398089C>T, NT_167249.2:g.1436304C>T, NT_167249.1:g.1435602C>T, NT_167247.2:g.1481454C>T, NT_167247.1:g.1487039C>T, NT_167244.2:g.1395461C>T, NT_167244.1:g.1345377C>T, XM_011514309.2:c.329C>T, XM_011514309.1:c.329C>T, XM_011514306.2:c.329C>T, XM_011514306.1:c.329C>T, NP_619645.1:p.Ala110Val, NP_001273562.1:p.Ala110Val, XP_011512611.1:p.Ala110Val, XP_011512608.1:p.Ala110Val

Select item 142686123916.

rs1426861239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30147145 (GRCh38)
6:30114922 (GRCh37)
Canonical SPDI:: NC_000006.12:30147144:A:G
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30147145A>G, NC_000006.11:g.30114922A>G, NG_033972.1:g.16038A>G, NM_138700.4:c.515A>G, NM_138700.3:c.515A>G, NM_001286633.2:c.602A>G, NM_001286633.1:c.602A>G, NT_113891.3:g.1626953A>G, NT_113891.2:g.1627059A>G, NT_167246.2:g.1457867A>G, NT_167246.1:g.1463487A>G, NT_167245.2:g.1403062A>G, NT_167245.1:g.1408647A>G, NT_167248.2:g.1402274A>G, NT_167248.1:g.1407870A>G, NT_167249.2:g.1446077A>G, NT_167249.1:g.1445375A>G, NT_167247.2:g.1491227A>G, NT_167247.1:g.1496812A>G, NT_167244.2:g.1405241A>G, NT_167244.1:g.1355157A>G, XM_011514309.2:c.602A>G, XM_011514309.1:c.602A>G, XM_011514306.2:c.602A>G, XM_011514306.1:c.602A>G, NP_619645.1:p.Gln172Arg, NP_001273562.1:p.Gln201Arg, XP_011512611.1:p.Gln201Arg, XP_011512608.1:p.Gln201Arg

Select item 142421650817.

rs1424216508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30137178 (GRCh38)
6:30104955 (GRCh37)
Canonical SPDI:: NC_000006.12:30137177:T:C
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30137178T>C, NC_000006.11:g.30104955T>C, NG_033972.1:g.6071T>C, NM_138700.4:c.142T>C, NM_138700.3:c.142T>C, NM_001286633.2:c.142T>C, NM_001286633.1:c.142T>C, NT_113891.3:g.1616983T>C, NT_113891.2:g.1617089T>C, NT_167246.2:g.1447900T>C, NT_167246.1:g.1453520T>C, NT_167245.2:g.1393096T>C, NT_167245.1:g.1398681T>C, NT_167248.2:g.1392306T>C, NT_167248.1:g.1397902T>C, NT_167249.2:g.1436117T>C, NT_167249.1:g.1435415T>C, NT_167247.2:g.1481267T>C, NT_167247.1:g.1486852T>C, NT_167244.2:g.1395274T>C, NT_167244.1:g.1345190T>C, XM_011514309.2:c.142T>C, XM_011514309.1:c.142T>C, XM_011514306.2:c.142T>C, XM_011514306.1:c.142T>C, NP_619645.1:p.Ser48Pro, NP_001273562.1:p.Ser48Pro, XP_011512611.1:p.Ser48Pro, XP_011512608.1:p.Ser48Pro

Select item 142313526718.

rs1423135267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30137108 (GRCh38)
6:30104885 (GRCh37)
Canonical SPDI:: NC_000006.12:30137107:C:T
Gene:: TRIM40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.30137108C>T, NC_000006.11:g.30104885C>T, NG_033972.1:g.6001C>T, NM_138700.4:c.72C>T, NM_138700.3:c.72C>T, NM_001286633.2:c.72C>T, NM_001286633.1:c.72C>T, NT_113891.3:g.1616913C>T, NT_113891.2:g.1617019C>T, NT_167246.2:g.1447830C>T, NT_167246.1:g.1453450C>T, NT_167245.2:g.1393026C>T, NT_167245.1:g.1398611C>T, NT_167248.2:g.1392236C>T, NT_167248.1:g.1397832C>T, NT_167249.2:g.1436047C>T, NT_167249.1:g.1435345C>T, NT_167247.2:g.1481197C>T, NT_167247.1:g.1486782C>T, NT_167244.2:g.1395204C>T, NT_167244.1:g.1345120C>T, XM_011514309.2:c.72C>T, XM_011514309.1:c.72C>T, XM_011514306.2:c.72C>T, XM_011514306.1:c.72C>T

Select item 142307857319.

rs1423078573 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:30147079 (GRCh38)
6:30114857 (GRCh37)
Canonical SPDI:: NC_000006.12:30147079:GGG:GGGG
Gene:: TRIM40 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.30147082dup, NC_000006.11:g.30114859dup, NG_033972.1:g.15975dup, NM_138700.4:c.452dup, NM_138700.3:c.452dup, NM_001286633.2:c.539dup, NM_001286633.1:c.539dup, NT_113891.3:g.1626890dup, NT_113891.2:g.1626996dup, NT_167246.2:g.1457804dup, NT_167246.1:g.1463424dup, NT_167245.2:g.1402999dup, NT_167245.1:g.1408584dup, NT_167248.2:g.1402211dup, NT_167248.1:g.1407807dup, NT_167249.2:g.1446014dup, NT_167249.1:g.1445312dup, NT_167247.2:g.1491164dup, NT_167247.1:g.1496749dup, NT_167244.2:g.1405178dup, NT_167244.1:g.1355094dup, XM_011514309.2:c.539dup, XM_011514309.1:c.539dup, XM_011514306.2:c.539dup, XM_011514306.1:c.539dup, NP_619645.1:p.Gln152fs, NP_001273562.1:p.Gln181fs, XP_011512611.1:p.Gln181fs, XP_011512608.1:p.Gln181fs

Select item 141265433120.

rs1412654331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30137105 (GRCh38)
6:30104882 (GRCh37)
Canonical SPDI:: NC_000006.12:30137104:G:T
Gene:: TRIM40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30137105G>T, NC_000006.11:g.30104882G>T, NG_033972.1:g.5998G>T, NM_138700.4:c.69G>T, NM_138700.3:c.69G>T, NM_001286633.2:c.69G>T, NM_001286633.1:c.69G>T, NT_113891.3:g.1616910G>T, NT_113891.2:g.1617016G>T, NT_167246.2:g.1447827G>T, NT_167246.1:g.1453447G>T, NT_167245.2:g.1393023G>T, NT_167245.1:g.1398608G>T, NT_167248.2:g.1392233G>T, NT_167248.1:g.1397829G>T, NT_167249.2:g.1436044G>T, NT_167249.1:g.1435342G>T, NT_167247.2:g.1481194G>T, NT_167247.1:g.1486779G>T, NT_167244.2:g.1395201G>T, NT_167244.1:g.1345117G>T, XM_011514309.2:c.69G>T, XM_011514309.1:c.69G>T, XM_011514306.2:c.69G>T, XM_011514306.1:c.69G>T, NP_619645.1:p.Glu23Asp, NP_001273562.1:p.Glu23Asp, XP_011512611.1:p.Glu23Asp, XP_011512608.1:p.Glu23Asp

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Result Filters

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Items: 1 to 20 of 271

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