SNP Links for Protein (Select 612339324) - SNP

Select item 14895197081.

rs1489519708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36332768 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332767:A:G
Gene:: TBC1D3G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00006/6 (GnomAD)
HGVS:: NC_000017.11:g.36332768A>G, NT_187614.1:g.567672A>G, NW_003315949.1:g.217524A>G, XM_005276914.4:c.1120A>G, XM_005276914.3:c.1120A>G, XM_005276914.2:c.1120A>G, XM_005276914.1:c.1120A>G, NM_001291462.2:c.937A>G, NM_001291462.1:c.937A>G, XM_047435090.1:c.937A>G, XM_047435086.1:c.1120A>G, XM_047435085.1:c.1120A>G, XM_047435087.1:c.1054A>G, XM_047435089.1:c.937A>G, XM_047435091.1:c.871A>G, XP_005276971.1:p.Thr374Ala, NP_001278391.1:p.Thr313Ala, XP_047291046.1:p.Thr313Ala, XP_047291042.1:p.Thr374Ala, XP_047291041.1:p.Thr374Ala, XP_047291043.1:p.Thr352Ala, XP_047291045.1:p.Thr313Ala, XP_047291047.1:p.Thr291Ala

Select item 14838848902.

rs1483884890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:36332823 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332822:C:A,NC_000017.11:36332822:C:G,NC_000017.11:36332822:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.36332823C>A, NC_000017.11:g.36332823C>G, NC_000017.11:g.36332823C>T, NT_187614.1:g.567727C>A, NT_187614.1:g.567727C>G, NT_187614.1:g.567727C>T, NW_003315949.1:g.217579C>A, NW_003315949.1:g.217579C>G, NW_003315949.1:g.217579C>T, XM_005276914.4:c.1175C>A, XM_005276914.4:c.1175C>G, XM_005276914.4:c.1175C>T, XM_005276914.3:c.1175C>A, XM_005276914.3:c.1175C>G, XM_005276914.3:c.1175C>T, XM_005276914.2:c.1175C>A, XM_005276914.2:c.1175C>G, XM_005276914.2:c.1175C>T, XM_005276914.1:c.1175C>A, XM_005276914.1:c.1175C>G, XM_005276914.1:c.1175C>T, NM_001291462.2:c.992C>A, NM_001291462.2:c.992C>G, NM_001291462.2:c.992C>T, NM_001291462.1:c.992C>A, NM_001291462.1:c.992C>G, NM_001291462.1:c.992C>T, XM_047435090.1:c.992C>A, XM_047435090.1:c.992C>G, XM_047435090.1:c.992C>T, XM_047435086.1:c.1175C>A, XM_047435086.1:c.1175C>G, XM_047435086.1:c.1175C>T, XM_047435089.1:c.992C>A, XM_047435089.1:c.992C>G, XM_047435089.1:c.992C>T, XM_047435091.1:c.926C>A, XM_047435091.1:c.926C>G, XM_047435091.1:c.926C>T, XM_047435085.1:c.1175C>A, XM_047435085.1:c.1175C>G, XM_047435085.1:c.1175C>T, XM_047435087.1:c.1109C>A, XM_047435087.1:c.1109C>G, XM_047435087.1:c.1109C>T, XP_005276971.1:p.Thr392Asn, XP_005276971.1:p.Thr392Ser, XP_005276971.1:p.Thr392Ile, NP_001278391.1:p.Thr331Asn, NP_001278391.1:p.Thr331Ser, NP_001278391.1:p.Thr331Ile, XP_047291046.1:p.Thr331Asn, XP_047291046.1:p.Thr331Ser, XP_047291046.1:p.Thr331Ile, XP_047291042.1:p.Thr392Asn, XP_047291042.1:p.Thr392Ser, XP_047291042.1:p.Thr392Ile, XP_047291045.1:p.Thr331Asn, XP_047291045.1:p.Thr331Ser, XP_047291045.1:p.Thr331Ile, XP_047291047.1:p.Thr309Asn, XP_047291047.1:p.Thr309Ser, XP_047291047.1:p.Thr309Ile, XP_047291041.1:p.Thr392Asn, XP_047291041.1:p.Thr392Ser, XP_047291041.1:p.Thr392Ile, XP_047291043.1:p.Thr370Asn, XP_047291043.1:p.Thr370Ser, XP_047291043.1:p.Thr370Ile

Select item 14788373943.

rs1478837394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:36332815 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332814:C:A,NC_000017.11:36332814:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.36332815C>A, NC_000017.11:g.36332815C>T, NT_187614.1:g.567719C>A, NT_187614.1:g.567719C>T, NW_003315949.1:g.217571C>A, NW_003315949.1:g.217571C>T, XM_005276914.4:c.1167C>A, XM_005276914.4:c.1167C>T, XM_005276914.3:c.1167C>A, XM_005276914.3:c.1167C>T, XM_005276914.2:c.1167C>A, XM_005276914.2:c.1167C>T, XM_005276914.1:c.1167C>A, XM_005276914.1:c.1167C>T, NM_001291462.2:c.984C>A, NM_001291462.2:c.984C>T, NM_001291462.1:c.984C>A, NM_001291462.1:c.984C>T, XM_047435090.1:c.984C>A, XM_047435090.1:c.984C>T, XM_047435086.1:c.1167C>A, XM_047435086.1:c.1167C>T, XM_047435089.1:c.984C>A, XM_047435089.1:c.984C>T, XM_047435091.1:c.918C>A, XM_047435091.1:c.918C>T, XM_047435085.1:c.1167C>A, XM_047435085.1:c.1167C>T, XM_047435087.1:c.1101C>A, XM_047435087.1:c.1101C>T, XP_005276971.1:p.Phe389Leu, NP_001278391.1:p.Phe328Leu, XP_047291046.1:p.Phe328Leu, XP_047291042.1:p.Phe389Leu, XP_047291045.1:p.Phe328Leu, XP_047291047.1:p.Phe306Leu, XP_047291041.1:p.Phe389Leu, XP_047291043.1:p.Phe367Leu

Select item 14759485324.

rs1475948532 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 17:36328123 (GRCh38)
17:3 (GRCh37)
Canonical SPDI:: NC_000017.11:36328118:TCCTCCT:TCCT
Gene:: TBC1D3G (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36328120CCT[1], NT_187614.1:g.563024CCT[1], NW_003315949.1:g.212876CCT[1], XM_005276914.4:c.522CCT[1], XM_005276914.3:c.522CCT[1], XM_005276914.2:c.522CCT[1], XM_005276914.1:c.522CCT[1], NM_001291462.2:c.339CCT[1], NM_001291462.1:c.339CCT[1], XM_047435090.1:c.339CCT[1], XM_047435086.1:c.522CCT[1], XM_047435088.1:c.522CCT[1], XM_047435089.1:c.339CCT[1], XM_047435091.1:c.339CCT[1], XM_047435085.1:c.522CCT[1], XM_047435087.1:c.522CCT[1], XP_005276971.1:p.Leu176del, NP_001278391.1:p.Leu115del, XP_047291046.1:p.Leu115del, XP_047291042.1:p.Leu176del, XP_047291044.1:p.Leu176del, XP_047291045.1:p.Leu115del, XP_047291047.1:p.Leu115del, XP_047291041.1:p.Leu176del, XP_047291043.1:p.Leu176del

Select item 14740483975.

rs1474048397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:36328158 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36328157:G:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.36328158G>T, NT_187614.1:g.563062G>T, NW_003315949.1:g.212914G>T, XM_005276914.4:c.560G>T, XM_005276914.3:c.560G>T, XM_005276914.2:c.560G>T, XM_005276914.1:c.560G>T, NM_001291462.2:c.377G>T, NM_001291462.1:c.377G>T, XM_047435090.1:c.377G>T, XM_047435086.1:c.560G>T, XM_047435085.1:c.560G>T, XM_047435087.1:c.560G>T, XM_047435088.1:c.560G>T, XM_047435089.1:c.377G>T, XM_047435091.1:c.377G>T, XP_005276971.1:p.Gly187Val, NP_001278391.1:p.Gly126Val, XP_047291046.1:p.Gly126Val, XP_047291042.1:p.Gly187Val, XP_047291041.1:p.Gly187Val, XP_047291043.1:p.Gly187Val, XP_047291044.1:p.Gly187Val, XP_047291045.1:p.Gly126Val, XP_047291047.1:p.Gly126Val

Select item 14734935576.

rs1473493557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36328545 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36328544:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00067/8 (ALFA)
T=0.00531/20 (GnomAD)
HGVS:: NC_000017.11:g.36328545C>T, NT_187614.1:g.563449C>T, NW_003315949.1:g.213301C>T, XM_005276914.4:c.618C>T, XM_005276914.3:c.618C>T, XM_005276914.2:c.618C>T, XM_005276914.1:c.618C>T, NM_001291462.2:c.435C>T, NM_001291462.1:c.435C>T, XM_047435090.1:c.435C>T, XM_047435086.1:c.618C>T, XM_047435088.1:c.618C>T, XM_047435089.1:c.435C>T, XM_047435091.1:c.435C>T, XM_047435085.1:c.618C>T, XM_047435087.1:c.618C>T

Select item 14642134287.

rs1464213428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36332808 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332807:A:G
Gene:: TBC1D3G (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00022/4 (TOMMO)
HGVS:: NC_000017.11:g.36332808A>G, NT_187614.1:g.567712A>G, NW_003315949.1:g.217564A>G, XM_005276914.4:c.1160A>G, XM_005276914.3:c.1160A>G, XM_005276914.2:c.1160A>G, XM_005276914.1:c.1160A>G, NM_001291462.2:c.977A>G, NM_001291462.1:c.977A>G, XM_047435090.1:c.977A>G, XM_047435086.1:c.1160A>G, XM_047435085.1:c.1160A>G, XM_047435087.1:c.1094A>G, XM_047435089.1:c.977A>G, XM_047435091.1:c.911A>G, XP_005276971.1:p.Asn387Ser, NP_001278391.1:p.Asn326Ser, XP_047291046.1:p.Asn326Ser, XP_047291042.1:p.Asn387Ser, XP_047291041.1:p.Asn387Ser, XP_047291043.1:p.Asn365Ser, XP_047291045.1:p.Asn326Ser, XP_047291047.1:p.Asn304Ser

Select item 14635136108.

rs1463513610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36327544 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36327543:G:A
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.36327544G>A, NT_187614.1:g.562448G>A, NW_003315949.1:g.212300G>A, XM_005276914.4:c.389G>A, XM_005276914.3:c.389G>A, XM_005276914.2:c.389G>A, XM_005276914.1:c.389G>A, NM_001291462.2:c.206G>A, NM_001291462.1:c.206G>A, XM_047435090.1:c.206G>A, XM_047435086.1:c.389G>A, XM_047435088.1:c.389G>A, XM_047435089.1:c.206G>A, XM_047435091.1:c.206G>A, XM_047435085.1:c.389G>A, XM_047435087.1:c.389G>A, XP_005276971.1:p.Arg130Gln, NP_001278391.1:p.Arg69Gln, XP_047291046.1:p.Arg69Gln, XP_047291042.1:p.Arg130Gln, XP_047291044.1:p.Arg130Gln, XP_047291045.1:p.Arg69Gln, XP_047291047.1:p.Arg69Gln, XP_047291041.1:p.Arg130Gln, XP_047291043.1:p.Arg130Gln

Select item 14621267169.

rs1462126716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:36327559 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36327558:G:A,NC_000017.11:36327558:G:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.36327559G>A, NC_000017.11:g.36327559G>T, NT_187614.1:g.562463G>A, NT_187614.1:g.562463G>T, NW_003315949.1:g.212315G>A, NW_003315949.1:g.212315G>T, XM_005276914.4:c.404G>A, XM_005276914.4:c.404G>T, XM_005276914.3:c.404G>A, XM_005276914.3:c.404G>T, XM_005276914.2:c.404G>A, XM_005276914.2:c.404G>T, XM_005276914.1:c.404G>A, XM_005276914.1:c.404G>T, NM_001291462.2:c.221G>A, NM_001291462.2:c.221G>T, NM_001291462.1:c.221G>A, NM_001291462.1:c.221G>T, XM_047435090.1:c.221G>A, XM_047435090.1:c.221G>T, XM_047435086.1:c.404G>A, XM_047435086.1:c.404G>T, XM_047435088.1:c.404G>A, XM_047435088.1:c.404G>T, XM_047435089.1:c.221G>A, XM_047435089.1:c.221G>T, XM_047435091.1:c.221G>A, XM_047435091.1:c.221G>T, XM_047435085.1:c.404G>A, XM_047435085.1:c.404G>T, XM_047435087.1:c.404G>A, XM_047435087.1:c.404G>T, XP_005276971.1:p.Arg135Gln, XP_005276971.1:p.Arg135Leu, NP_001278391.1:p.Arg74Gln, NP_001278391.1:p.Arg74Leu, XP_047291046.1:p.Arg74Gln, XP_047291046.1:p.Arg74Leu, XP_047291042.1:p.Arg135Gln, XP_047291042.1:p.Arg135Leu, XP_047291044.1:p.Arg135Gln, XP_047291044.1:p.Arg135Leu, XP_047291045.1:p.Arg74Gln, XP_047291045.1:p.Arg74Leu, XP_047291047.1:p.Arg74Gln, XP_047291047.1:p.Arg74Leu, XP_047291041.1:p.Arg135Gln, XP_047291041.1:p.Arg135Leu, XP_047291043.1:p.Arg135Gln, XP_047291043.1:p.Arg135Leu

Select item 145950481710.

rs1459504817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36328521 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36328520:G:A
Gene:: TBC1D3G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.36328521G>A, NT_187614.1:g.563425G>A, NW_003315949.1:g.213277G>A, XM_005276914.4:c.594G>A, XM_005276914.3:c.594G>A, XM_005276914.2:c.594G>A, XM_005276914.1:c.594G>A, NM_001291462.2:c.411G>A, NM_001291462.1:c.411G>A, XM_047435090.1:c.411G>A, XM_047435086.1:c.594G>A, XM_047435088.1:c.594G>A, XM_047435089.1:c.411G>A, XM_047435091.1:c.411G>A, XM_047435085.1:c.594G>A, XM_047435087.1:c.594G>A

Select item 145864518911.

rs1458645189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:36332358 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332357:G:A,NC_000017.11:36332357:G:C
Gene:: TBC1D3G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.36332358G>A, NC_000017.11:g.36332358G>C, NT_187614.1:g.567262G>A, NT_187614.1:g.567262G>C, NW_003315949.1:g.217114G>A, NW_003315949.1:g.217114G>C, XM_005276914.4:c.1080G>A, XM_005276914.4:c.1080G>C, XM_005276914.3:c.1080G>A, XM_005276914.3:c.1080G>C, XM_005276914.2:c.1080G>A, XM_005276914.2:c.1080G>C, XM_005276914.1:c.1080G>A, XM_005276914.1:c.1080G>C, NM_001291462.2:c.897G>A, NM_001291462.2:c.897G>C, NM_001291462.1:c.897G>A, NM_001291462.1:c.897G>C, XM_047435090.1:c.897G>A, XM_047435090.1:c.897G>C, XM_047435086.1:c.1080G>A, XM_047435086.1:c.1080G>C, XM_047435085.1:c.1080G>A, XM_047435085.1:c.1080G>C, XM_047435087.1:c.1014G>A, XM_047435087.1:c.1014G>C, XM_047435088.1:c.1080G>A, XM_047435088.1:c.1080G>C, XM_047435089.1:c.897G>A, XM_047435089.1:c.897G>C, XM_047435091.1:c.831G>A, XM_047435091.1:c.831G>C

Select item 144872001112.

rs1448720011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36332322 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332321:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
T=0.00015/2 (TOMMO)
HGVS:: NC_000017.11:g.36332322C>T, NT_187614.1:g.567226C>T, NW_003315949.1:g.217078C>T, XM_005276914.4:c.1044C>T, XM_005276914.3:c.1044C>T, XM_005276914.2:c.1044C>T, XM_005276914.1:c.1044C>T, NM_001291462.2:c.861C>T, NM_001291462.1:c.861C>T, XM_047435090.1:c.861C>T, XM_047435086.1:c.1044C>T, XM_047435085.1:c.1044C>T, XM_047435087.1:c.978C>T, XM_047435088.1:c.1044C>T, XM_047435089.1:c.861C>T, XM_047435091.1:c.795C>T

Select item 144726425113.

rs1447264251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:36332798 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332797:C:A,NC_000017.11:36332797:C:G,NC_000017.11:36332797:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000017.11:g.36332798C>A, NC_000017.11:g.36332798C>G, NC_000017.11:g.36332798C>T, NT_187614.1:g.567702C>A, NT_187614.1:g.567702C>G, NT_187614.1:g.567702C>T, NW_003315949.1:g.217554C>A, NW_003315949.1:g.217554C>G, NW_003315949.1:g.217554C>T, XM_005276914.4:c.1150C>A, XM_005276914.4:c.1150C>G, XM_005276914.4:c.1150C>T, XM_005276914.3:c.1150C>A, XM_005276914.3:c.1150C>G, XM_005276914.3:c.1150C>T, XM_005276914.2:c.1150C>A, XM_005276914.2:c.1150C>G, XM_005276914.2:c.1150C>T, XM_005276914.1:c.1150C>A, XM_005276914.1:c.1150C>G, XM_005276914.1:c.1150C>T, NM_001291462.2:c.967C>A, NM_001291462.2:c.967C>G, NM_001291462.2:c.967C>T, NM_001291462.1:c.967C>A, NM_001291462.1:c.967C>G, NM_001291462.1:c.967C>T, XM_047435090.1:c.967C>A, XM_047435090.1:c.967C>G, XM_047435090.1:c.967C>T, XM_047435086.1:c.1150C>A, XM_047435086.1:c.1150C>G, XM_047435086.1:c.1150C>T, XM_047435089.1:c.967C>A, XM_047435089.1:c.967C>G, XM_047435089.1:c.967C>T, XM_047435091.1:c.901C>A, XM_047435091.1:c.901C>G, XM_047435091.1:c.901C>T, XM_047435085.1:c.1150C>A, XM_047435085.1:c.1150C>G, XM_047435085.1:c.1150C>T, XM_047435087.1:c.1084C>A, XM_047435087.1:c.1084C>G, XM_047435087.1:c.1084C>T, XP_005276971.1:p.Arg384Ser, XP_005276971.1:p.Arg384Gly, XP_005276971.1:p.Arg384Cys, NP_001278391.1:p.Arg323Ser, NP_001278391.1:p.Arg323Gly, NP_001278391.1:p.Arg323Cys, XP_047291046.1:p.Arg323Ser, XP_047291046.1:p.Arg323Gly, XP_047291046.1:p.Arg323Cys, XP_047291042.1:p.Arg384Ser, XP_047291042.1:p.Arg384Gly, XP_047291042.1:p.Arg384Cys, XP_047291045.1:p.Arg323Ser, XP_047291045.1:p.Arg323Gly, XP_047291045.1:p.Arg323Cys, XP_047291047.1:p.Arg301Ser, XP_047291047.1:p.Arg301Gly, XP_047291047.1:p.Arg301Cys, XP_047291041.1:p.Arg384Ser, XP_047291041.1:p.Arg384Gly, XP_047291041.1:p.Arg384Cys, XP_047291043.1:p.Arg362Ser, XP_047291043.1:p.Arg362Gly, XP_047291043.1:p.Arg362Cys

Select item 144063537314.

rs1440635373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:36330499 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36330498:T:C
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.36330499T>C, NT_187614.1:g.565403T>C, NW_003315949.1:g.215255T>C, XM_005276914.4:c.781T>C, XM_005276914.3:c.781T>C, XM_005276914.2:c.781T>C, XM_005276914.1:c.781T>C, NM_001291462.2:c.598T>C, NM_001291462.1:c.598T>C, XM_047435090.1:c.598T>C, XM_047435086.1:c.781T>C, XM_047435088.1:c.781T>C, XM_047435089.1:c.598T>C, XM_047435091.1:c.598T>C, XM_047435085.1:c.781T>C, XM_047435087.1:c.781T>C, XP_005276971.1:p.Tyr261His, NP_001278391.1:p.Tyr200His, XP_047291046.1:p.Tyr200His, XP_047291042.1:p.Tyr261His, XP_047291044.1:p.Tyr261His, XP_047291045.1:p.Tyr200His, XP_047291047.1:p.Tyr200His, XP_047291041.1:p.Tyr261His, XP_047291043.1:p.Tyr261His

Select item 143836927015.

rs1438369270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36328555 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36328554:A:G
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.36328555A>G, NT_187614.1:g.563459A>G, NW_003315949.1:g.213311A>G, XM_005276914.4:c.628A>G, XM_005276914.3:c.628A>G, XM_005276914.2:c.628A>G, XM_005276914.1:c.628A>G, NM_001291462.2:c.445A>G, NM_001291462.1:c.445A>G, XM_047435090.1:c.445A>G, XM_047435086.1:c.628A>G, XM_047435088.1:c.628A>G, XM_047435089.1:c.445A>G, XM_047435091.1:c.445A>G, XM_047435085.1:c.628A>G, XM_047435087.1:c.628A>G, XP_005276971.1:p.Ile210Val, NP_001278391.1:p.Ile149Val, XP_047291046.1:p.Ile149Val, XP_047291042.1:p.Ile210Val, XP_047291044.1:p.Ile210Val, XP_047291045.1:p.Ile149Val, XP_047291047.1:p.Ile149Val, XP_047291041.1:p.Ile210Val, XP_047291043.1:p.Ile210Val

Select item 143707860116.

rs1437078601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36328107 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36328106:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00051/6 (ALFA)
HGVS:: NC_000017.11:g.36328107C>T, NT_187614.1:g.563011C>T, NW_003315949.1:g.212863C>T, XM_005276914.4:c.509C>T, XM_005276914.3:c.509C>T, XM_005276914.2:c.509C>T, XM_005276914.1:c.509C>T, NM_001291462.2:c.326C>T, NM_001291462.1:c.326C>T, XM_047435090.1:c.326C>T, XM_047435086.1:c.509C>T, XM_047435085.1:c.509C>T, XM_047435087.1:c.509C>T, XM_047435088.1:c.509C>T, XM_047435089.1:c.326C>T, XM_047435091.1:c.326C>T, XP_005276971.1:p.Pro170Leu, NP_001278391.1:p.Pro109Leu, XP_047291046.1:p.Pro109Leu, XP_047291042.1:p.Pro170Leu, XP_047291041.1:p.Pro170Leu, XP_047291043.1:p.Pro170Leu, XP_047291044.1:p.Pro170Leu, XP_047291045.1:p.Pro109Leu, XP_047291047.1:p.Pro109Leu

Select item 143361002217.

rs1433610022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36327041 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36327040:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.36327041C>T, NT_187614.1:g.561945C>T, NW_003315949.1:g.211797C>T, XM_005276914.4:c.368C>T, XM_005276914.3:c.368C>T, XM_005276914.2:c.368C>T, XM_005276914.1:c.368C>T, NM_001291462.2:c.185C>T, NM_001291462.1:c.185C>T, XM_047435090.1:c.185C>T, XM_047435086.1:c.368C>T, XM_047435088.1:c.368C>T, XM_047435089.1:c.185C>T, XM_047435091.1:c.185C>T, XM_047435085.1:c.368C>T, XM_047435087.1:c.368C>T, XP_005276971.1:p.Ala123Val, NP_001278391.1:p.Ala62Val, XP_047291046.1:p.Ala62Val, XP_047291042.1:p.Ala123Val, XP_047291044.1:p.Ala123Val, XP_047291045.1:p.Ala62Val, XP_047291047.1:p.Ala62Val, XP_047291041.1:p.Ala123Val, XP_047291043.1:p.Ala123Val

Select item 142318791718.

rs1423187917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:36332809 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332808:C:G,NC_000017.11:36332808:C:T
Gene:: TBC1D3G (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.36332809C>G, NC_000017.11:g.36332809C>T, NT_187614.1:g.567713C>G, NT_187614.1:g.567713C>T, NW_003315949.1:g.217565C>G, NW_003315949.1:g.217565C>T, XM_005276914.4:c.1161C>G, XM_005276914.4:c.1161C>T, XM_005276914.3:c.1161C>G, XM_005276914.3:c.1161C>T, XM_005276914.2:c.1161C>G, XM_005276914.2:c.1161C>T, XM_005276914.1:c.1161C>G, XM_005276914.1:c.1161C>T, NM_001291462.2:c.978C>G, NM_001291462.2:c.978C>T, NM_001291462.1:c.978C>G, NM_001291462.1:c.978C>T, XM_047435090.1:c.978C>G, XM_047435090.1:c.978C>T, XM_047435086.1:c.1161C>G, XM_047435086.1:c.1161C>T, XM_047435085.1:c.1161C>G, XM_047435085.1:c.1161C>T, XM_047435087.1:c.1095C>G, XM_047435087.1:c.1095C>T, XM_047435089.1:c.978C>G, XM_047435089.1:c.978C>T, XM_047435091.1:c.912C>G, XM_047435091.1:c.912C>T, XP_005276971.1:p.Asn387Lys, NP_001278391.1:p.Asn326Lys, XP_047291046.1:p.Asn326Lys, XP_047291042.1:p.Asn387Lys, XP_047291041.1:p.Asn387Lys, XP_047291043.1:p.Asn365Lys, XP_047291045.1:p.Asn326Lys, XP_047291047.1:p.Asn304Lys

Select item 142031687419.

rs1420316874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36327563 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36327562:G:A
Gene:: TBC1D3G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.36327563G>A, NT_187614.1:g.562467G>A, NW_003315949.1:g.212319G>A, XM_005276914.4:c.408G>A, XM_005276914.3:c.408G>A, XM_005276914.2:c.408G>A, XM_005276914.1:c.408G>A, NM_001291462.2:c.225G>A, NM_001291462.1:c.225G>A, XM_047435090.1:c.225G>A, XM_047435086.1:c.408G>A, XM_047435085.1:c.408G>A, XM_047435087.1:c.408G>A, XM_047435088.1:c.408G>A, XM_047435089.1:c.225G>A, XM_047435091.1:c.225G>A

Select item 141895329520.

rs1418953295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36332368 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:36332367:A:G
Gene:: TBC1D3G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.36332368A>G, NT_187614.1:g.567272A>G, NW_003315949.1:g.217124A>G, XM_005276914.4:c.1090A>G, XM_005276914.3:c.1090A>G, XM_005276914.2:c.1090A>G, XM_005276914.1:c.1090A>G, NM_001291462.2:c.907A>G, NM_001291462.1:c.907A>G, XM_047435090.1:c.907A>G, XM_047435086.1:c.1090A>G, XM_047435088.1:c.1090A>G, XM_047435089.1:c.907A>G, XM_047435091.1:c.841A>G, XM_047435085.1:c.1090A>G, XM_047435087.1:c.1024A>G, XP_005276971.1:p.Ile364Val, NP_001278391.1:p.Ile303Val, XP_047291046.1:p.Ile303Val, XP_047291042.1:p.Ile364Val, XP_047291044.1:p.Ile364Val, XP_047291045.1:p.Ile303Val, XP_047291047.1:p.Ile281Val, XP_047291041.1:p.Ile364Val, XP_047291043.1:p.Ile342Val

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