SNP Links for Protein (Select 578831845) - SNP

Links from Protein

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Select item 14858707031.

rs1485870703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:38014208 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014207:G:A,NC_000017.11:38014207:G:C
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.38014208G>A, NC_000017.11:g.38014208G>C, XM_006722252.4:c.1199G>A, XM_006722252.4:c.1199G>C, XM_006722252.3:c.1199G>A, XM_006722252.3:c.1199G>C, XM_006722252.2:c.1199G>A, XM_006722252.2:c.1199G>C, XM_006722252.1:c.1199G>A, XM_006722252.1:c.1199G>C, XM_011524176.3:c.1448G>A, XM_011524176.3:c.1448G>C, XM_011524176.2:c.1448G>A, XM_011524176.2:c.1448G>C, XM_011524176.1:c.1448G>A, XM_011524176.1:c.1448G>C, XM_006722248.2:c.1448G>A, XM_006722248.2:c.1448G>C, XM_006722248.1:c.1448G>A, XM_006722248.1:c.1448G>C, XM_006722249.2:c.1382G>A, XM_006722249.2:c.1382G>C, XM_006722249.1:c.1382G>A, XM_006722249.1:c.1382G>C, NM_001291465.2:c.1265G>A, NM_001291465.2:c.1265G>C, NM_001291465.1:c.1265G>A, NM_001291465.1:c.1265G>C, XM_047435093.1:c.1265G>A, XM_047435093.1:c.1265G>C, XP_006722315.1:p.Arg400Gln, XP_006722315.1:p.Arg400Pro, XP_011522478.1:p.Arg483Gln, XP_011522478.1:p.Arg483Pro, XP_006722311.1:p.Arg483Gln, XP_006722311.1:p.Arg483Pro, XP_006722312.1:p.Arg461Gln, XP_006722312.1:p.Arg461Pro, NP_001278394.1:p.Arg422Gln, NP_001278394.1:p.Arg422Pro, XP_047291049.1:p.Arg422Gln, XP_047291049.1:p.Arg422Pro

Select item 14730250012.

rs1473025001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38014447 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014446:G:A
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0011/13 (ALFA)
HGVS:: NC_000017.11:g.38014447G>A, XM_006722252.4:c.1438G>A, XM_006722252.3:c.1438G>A, XM_006722252.2:c.1438G>A, XM_006722252.1:c.1438G>A, XM_011524176.3:c.1687G>A, XM_011524176.2:c.1687G>A, XM_011524176.1:c.1687G>A, XM_006722248.2:c.1687G>A, XM_006722248.1:c.1687G>A, XM_006722249.2:c.1621G>A, XM_006722249.1:c.1621G>A, NM_001291465.2:c.1504G>A, NM_001291465.1:c.1504G>A, XM_047435093.1:c.1504G>A, XP_006722315.1:p.Val480Met, XP_011522478.1:p.Val563Met, XP_006722311.1:p.Val563Met, XP_006722312.1:p.Val541Met, NP_001278394.1:p.Val502Met, XP_047291049.1:p.Val502Met

Select item 14566559673.

rs1456655967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38014424 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014423:A:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00776/92 (ALFA)
G=0.01759/437 (GnomAD)
HGVS:: NC_000017.11:g.38014424A>G, XM_006722252.4:c.1415A>G, XM_006722252.3:c.1415A>G, XM_006722252.2:c.1415A>G, XM_006722252.1:c.1415A>G, XM_011524176.3:c.1664A>G, XM_011524176.2:c.1664A>G, XM_011524176.1:c.1664A>G, XM_006722248.2:c.1664A>G, XM_006722248.1:c.1664A>G, XM_006722249.2:c.1598A>G, XM_006722249.1:c.1598A>G, NM_001291465.2:c.1481A>G, NM_001291465.1:c.1481A>G, XM_047435093.1:c.1481A>G, XP_006722315.1:p.Gln472Arg, XP_011522478.1:p.Gln555Arg, XP_006722311.1:p.Gln555Arg, XP_006722312.1:p.Gln533Arg, NP_001278394.1:p.Gln494Arg, XP_047291049.1:p.Gln494Arg

Select item 14453662844.

rs1445366284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38014560 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014559:C:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00034/4 (ALFA)
G=0.0005/27 (GnomAD)
HGVS:: NC_000017.11:g.38014560C>G, XM_006722252.4:c.1551C>G, XM_006722252.3:c.1551C>G, XM_006722252.2:c.1551C>G, XM_006722252.1:c.1551C>G, XM_011524176.3:c.1800C>G, XM_011524176.2:c.1800C>G, XM_011524176.1:c.1800C>G, XM_006722248.2:c.1800C>G, XM_006722248.1:c.1800C>G, XM_006722249.2:c.1734C>G, XM_006722249.1:c.1734C>G, NM_001291465.2:c.1617C>G, NM_001291465.1:c.1617C>G, XM_047435093.1:c.1617C>G, XP_006722315.1:p.His517Gln, XP_011522478.1:p.His600Gln, XP_006722311.1:p.His600Gln, XP_006722312.1:p.His578Gln, NP_001278394.1:p.His539Gln, XP_047291049.1:p.His539Gln

Select item 14408675325.

rs1440867532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38014471 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014470:A:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.38014471A>G, XM_006722252.4:c.1462A>G, XM_006722252.3:c.1462A>G, XM_006722252.2:c.1462A>G, XM_006722252.1:c.1462A>G, XM_011524176.3:c.1711A>G, XM_011524176.2:c.1711A>G, XM_011524176.1:c.1711A>G, XM_006722248.2:c.1711A>G, XM_006722248.1:c.1711A>G, XM_006722249.2:c.1645A>G, XM_006722249.1:c.1645A>G, NM_001291465.2:c.1528A>G, NM_001291465.1:c.1528A>G, XM_047435093.1:c.1528A>G, XP_006722315.1:p.Ser488Gly, XP_011522478.1:p.Ser571Gly, XP_006722311.1:p.Ser571Gly, XP_006722312.1:p.Ser549Gly, NP_001278394.1:p.Ser510Gly, XP_047291049.1:p.Ser510Gly

Select item 14170728816.

rs1417072881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38014352 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014351:G:A
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.38014352G>A, XM_006722252.4:c.1343G>A, XM_006722252.3:c.1343G>A, XM_006722252.2:c.1343G>A, XM_006722252.1:c.1343G>A, XM_011524176.3:c.1592G>A, XM_011524176.2:c.1592G>A, XM_011524176.1:c.1592G>A, XM_006722248.2:c.1592G>A, XM_006722248.1:c.1592G>A, XM_006722249.2:c.1526G>A, XM_006722249.1:c.1526G>A, NM_001291465.2:c.1409G>A, NM_001291465.1:c.1409G>A, XM_047435093.1:c.1409G>A, XP_006722315.1:p.Arg448His, XP_011522478.1:p.Arg531His, XP_006722311.1:p.Arg531His, XP_006722312.1:p.Arg509His, NP_001278394.1:p.Arg470His, XP_047291049.1:p.Arg470His

Select item 14123538057.

rs1412353805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38014385 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014384:G:A
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00143/17 (ALFA)
A=0.00719/111 (GnomAD)
HGVS:: NC_000017.11:g.38014385G>A, XM_006722252.4:c.1376G>A, XM_006722252.3:c.1376G>A, XM_006722252.2:c.1376G>A, XM_006722252.1:c.1376G>A, XM_011524176.3:c.1625G>A, XM_011524176.2:c.1625G>A, XM_011524176.1:c.1625G>A, XM_006722248.2:c.1625G>A, XM_006722248.1:c.1625G>A, XM_006722249.2:c.1559G>A, XM_006722249.1:c.1559G>A, NM_001291465.2:c.1442G>A, NM_001291465.1:c.1442G>A, XM_047435093.1:c.1442G>A, XP_006722315.1:p.Arg459His, XP_011522478.1:p.Arg542His, XP_006722311.1:p.Arg542His, XP_006722312.1:p.Arg520His, NP_001278394.1:p.Arg481His, XP_047291049.1:p.Arg481His

Select item 14097461898.

rs1409746189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38014432 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014431:C:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.38014432C>T, XM_006722252.4:c.1423C>T, XM_006722252.3:c.1423C>T, XM_006722252.2:c.1423C>T, XM_006722252.1:c.1423C>T, XM_011524176.3:c.1672C>T, XM_011524176.2:c.1672C>T, XM_011524176.1:c.1672C>T, XM_006722248.2:c.1672C>T, XM_006722248.1:c.1672C>T, XM_006722249.2:c.1606C>T, XM_006722249.1:c.1606C>T, NM_001291465.2:c.1489C>T, NM_001291465.1:c.1489C>T, XM_047435093.1:c.1489C>T, XP_006722315.1:p.His475Tyr, XP_011522478.1:p.His558Tyr, XP_006722311.1:p.His558Tyr, XP_006722312.1:p.His536Tyr, NP_001278394.1:p.His497Tyr, XP_047291049.1:p.His497Tyr

Select item 13865413929.

rs1386541392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38014392 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014391:A:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00169/20 (ALFA)
G=0.01176/202 (GnomAD)
HGVS:: NC_000017.11:g.38014392A>G, XM_006722252.4:c.1383A>G, XM_006722252.3:c.1383A>G, XM_006722252.2:c.1383A>G, XM_006722252.1:c.1383A>G, XM_011524176.3:c.1632A>G, XM_011524176.2:c.1632A>G, XM_011524176.1:c.1632A>G, XM_006722248.2:c.1632A>G, XM_006722248.1:c.1632A>G, XM_006722249.2:c.1566A>G, XM_006722249.1:c.1566A>G, NM_001291465.2:c.1449A>G, NM_001291465.1:c.1449A>G, XM_047435093.1:c.1449A>G, XP_006722315.1:p.Ile461Met, XP_011522478.1:p.Ile544Met, XP_006722311.1:p.Ile544Met, XP_006722312.1:p.Ile522Met, NP_001278394.1:p.Ile483Met, XP_047291049.1:p.Ile483Met

Select item 138037972610.

rs1380379726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38014528 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014527:C:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00025/13 (GnomAD)
HGVS:: NC_000017.11:g.38014528C>T, XM_006722252.4:c.1519C>T, XM_006722252.3:c.1519C>T, XM_006722252.2:c.1519C>T, XM_006722252.1:c.1519C>T, XM_011524176.3:c.1768C>T, XM_011524176.2:c.1768C>T, XM_011524176.1:c.1768C>T, XM_006722248.2:c.1768C>T, XM_006722248.1:c.1768C>T, XM_006722249.2:c.1702C>T, XM_006722249.1:c.1702C>T, NM_001291465.2:c.1585C>T, NM_001291465.1:c.1585C>T, XM_047435093.1:c.1585C>T, XP_006722315.1:p.Pro507Ser, XP_011522478.1:p.Pro590Ser, XP_006722311.1:p.Pro590Ser, XP_006722312.1:p.Pro568Ser, NP_001278394.1:p.Pro529Ser, XP_047291049.1:p.Pro529Ser

Select item 135411841211.

rs1354118412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38012972 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38012971:C:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.38012972C>T, XM_006722252.4:c.926C>T, XM_006722252.3:c.926C>T, XM_006722252.2:c.926C>T, XM_006722252.1:c.926C>T, XM_011524176.3:c.1175C>T, XM_011524176.2:c.1175C>T, XM_011524176.1:c.1175C>T, XM_006722248.2:c.1175C>T, XM_006722248.1:c.1175C>T, XM_006722249.2:c.1109C>T, XM_006722249.1:c.1109C>T, XM_006722253.2:c.*87C>T, NM_001291465.2:c.992C>T, NM_001291465.1:c.992C>T, XM_047435093.1:c.992C>T, XP_006722315.1:p.Thr309Ile, XP_011522478.1:p.Thr392Ile, XP_006722311.1:p.Thr392Ile, XP_006722312.1:p.Thr370Ile, NP_001278394.1:p.Thr331Ile, XP_047291049.1:p.Thr331Ile

Select item 135033360412.

rs1350333604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38014259 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014258:C:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00059/7 (ALFA)
T=0.0101/2 (GnomAD)
HGVS:: NC_000017.11:g.38014259C>T, XM_006722252.4:c.1250C>T, XM_006722252.3:c.1250C>T, XM_006722252.2:c.1250C>T, XM_006722252.1:c.1250C>T, XM_011524176.3:c.1499C>T, XM_011524176.2:c.1499C>T, XM_011524176.1:c.1499C>T, XM_006722248.2:c.1499C>T, XM_006722248.1:c.1499C>T, XM_006722249.2:c.1433C>T, XM_006722249.1:c.1433C>T, NM_001291465.2:c.1316C>T, NM_001291465.1:c.1316C>T, XM_047435093.1:c.1316C>T, XP_006722315.1:p.Ala417Val, XP_011522478.1:p.Ala500Val, XP_006722311.1:p.Ala500Val, XP_006722312.1:p.Ala478Val, NP_001278394.1:p.Ala439Val, XP_047291049.1:p.Ala439Val

Select item 134301803113.

rs1343018031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38014248 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014247:C:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
HGVS:: NC_000017.11:g.38014248C>T, XM_006722252.4:c.1239C>T, XM_006722252.3:c.1239C>T, XM_006722252.2:c.1239C>T, XM_006722252.1:c.1239C>T, XM_011524176.3:c.1488C>T, XM_011524176.2:c.1488C>T, XM_011524176.1:c.1488C>T, XM_006722248.2:c.1488C>T, XM_006722248.1:c.1488C>T, XM_006722249.2:c.1422C>T, XM_006722249.1:c.1422C>T, NM_001291465.2:c.1305C>T, NM_001291465.1:c.1305C>T, XM_047435093.1:c.1305C>T

Select item 134141638714.

rs1341416387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38014382 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014381:T:C
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0016/19 (ALFA)
C=0.00047/7 (GnomAD)
C=0.00837/171 (TOMMO)
HGVS:: NC_000017.11:g.38014382T>C, XM_006722252.4:c.1373T>C, XM_006722252.3:c.1373T>C, XM_006722252.2:c.1373T>C, XM_006722252.1:c.1373T>C, XM_011524176.3:c.1622T>C, XM_011524176.2:c.1622T>C, XM_011524176.1:c.1622T>C, XM_006722248.2:c.1622T>C, XM_006722248.1:c.1622T>C, XM_006722249.2:c.1556T>C, XM_006722249.1:c.1556T>C, NM_001291465.2:c.1439T>C, NM_001291465.1:c.1439T>C, XM_047435093.1:c.1439T>C, XP_006722315.1:p.Val458Ala, XP_011522478.1:p.Val541Ala, XP_006722311.1:p.Val541Ala, XP_006722312.1:p.Val519Ala, NP_001278394.1:p.Val480Ala, XP_047291049.1:p.Val480Ala

Select item 134119214715.

rs1341192147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38013017 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38013016:C:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.38013017C>G, XM_006722252.4:c.971C>G, XM_006722252.3:c.971C>G, XM_006722252.2:c.971C>G, XM_006722252.1:c.971C>G, XM_011524176.3:c.1220C>G, XM_011524176.2:c.1220C>G, XM_011524176.1:c.1220C>G, XM_006722248.2:c.1220C>G, XM_006722248.1:c.1220C>G, XM_006722249.2:c.1154C>G, XM_006722249.1:c.1154C>G, NM_001291465.2:c.1037C>G, NM_001291465.1:c.1037C>G, XM_047435093.1:c.1037C>G, XP_006722315.1:p.Ser324Cys, XP_011522478.1:p.Ser407Cys, XP_006722311.1:p.Ser407Cys, XP_006722312.1:p.Ser385Cys, NP_001278394.1:p.Ser346Cys, XP_047291049.1:p.Ser346Cys

Select item 133315451616.

rs1333154516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38014384 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014383:C:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.38014384C>T, XM_006722252.4:c.1375C>T, XM_006722252.3:c.1375C>T, XM_006722252.2:c.1375C>T, XM_006722252.1:c.1375C>T, XM_011524176.3:c.1624C>T, XM_011524176.2:c.1624C>T, XM_011524176.1:c.1624C>T, XM_006722248.2:c.1624C>T, XM_006722248.1:c.1624C>T, XM_006722249.2:c.1558C>T, XM_006722249.1:c.1558C>T, NM_001291465.2:c.1441C>T, NM_001291465.1:c.1441C>T, XM_047435093.1:c.1441C>T, XP_006722315.1:p.Arg459Cys, XP_011522478.1:p.Arg542Cys, XP_006722311.1:p.Arg542Cys, XP_006722312.1:p.Arg520Cys, NP_001278394.1:p.Arg481Cys, XP_047291049.1:p.Arg481Cys

Select item 132855875817.

rs1328558758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38014513 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014512:G:A
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.38014513G>A, XM_006722252.4:c.1504G>A, XM_006722252.3:c.1504G>A, XM_006722252.2:c.1504G>A, XM_006722252.1:c.1504G>A, XM_011524176.3:c.1753G>A, XM_011524176.2:c.1753G>A, XM_011524176.1:c.1753G>A, XM_006722248.2:c.1753G>A, XM_006722248.1:c.1753G>A, XM_006722249.2:c.1687G>A, XM_006722249.1:c.1687G>A, NM_001291465.2:c.1570G>A, NM_001291465.1:c.1570G>A, XM_047435093.1:c.1570G>A, XP_006722315.1:p.Glu502Lys, XP_011522478.1:p.Glu585Lys, XP_006722311.1:p.Glu585Lys, XP_006722312.1:p.Glu563Lys, NP_001278394.1:p.Glu524Lys, XP_047291049.1:p.Glu524Lys

Select item 132777564118.

rs1327775641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:38014566 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014565:A:T
Gene:: TBC1D3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00051/6 (ALFA)
T=0.00166/90 (GnomAD)
HGVS:: NC_000017.11:g.38014566A>T, XM_006722252.4:c.1557A>T, XM_006722252.3:c.1557A>T, XM_006722252.2:c.1557A>T, XM_006722252.1:c.1557A>T, XM_011524176.3:c.1806A>T, XM_011524176.2:c.1806A>T, XM_011524176.1:c.1806A>T, XM_006722248.2:c.1806A>T, XM_006722248.1:c.1806A>T, XM_006722249.2:c.1740A>T, XM_006722249.1:c.1740A>T, NM_001291465.2:c.1623A>T, NM_001291465.1:c.1623A>T, XM_047435093.1:c.1623A>T, XP_006722315.1:p.Glu519Asp, XP_011522478.1:p.Glu602Asp, XP_006722311.1:p.Glu602Asp, XP_006722312.1:p.Glu580Asp, NP_001278394.1:p.Glu541Asp, XP_047291049.1:p.Glu541Asp

Select item 129719626819.

rs1297196268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38013027 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38013026:A:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00013/4 (GnomAD)
HGVS:: NC_000017.11:g.38013027A>G, XM_006722252.4:c.981A>G, XM_006722252.3:c.981A>G, XM_006722252.2:c.981A>G, XM_006722252.1:c.981A>G, XM_011524176.3:c.1230A>G, XM_011524176.2:c.1230A>G, XM_011524176.1:c.1230A>G, XM_006722248.2:c.1230A>G, XM_006722248.1:c.1230A>G, XM_006722249.2:c.1164A>G, XM_006722249.1:c.1164A>G, NM_001291465.2:c.1047A>G, NM_001291465.1:c.1047A>G, XM_047435093.1:c.1047A>G

Select item 128686160220.

rs1286861602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38014341 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:38014340:C:G
Gene:: TBC1D3D (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0011/13 (ALFA)
G=0.00091/15 (TOMMO)
G=0.00178/11 (GnomAD)
HGVS:: NC_000017.11:g.38014341C>G, XM_006722252.4:c.1332C>G, XM_006722252.3:c.1332C>G, XM_006722252.2:c.1332C>G, XM_006722252.1:c.1332C>G, XM_011524176.3:c.1581C>G, XM_011524176.2:c.1581C>G, XM_011524176.1:c.1581C>G, XM_006722248.2:c.1581C>G, XM_006722248.1:c.1581C>G, XM_006722249.2:c.1515C>G, XM_006722249.1:c.1515C>G, NM_001291465.2:c.1398C>G, NM_001291465.1:c.1398C>G, XM_047435093.1:c.1398C>G

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