SNP Links for Protein (Select 14702182) - SNP

Select item 14808568511.

rs1480856851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:74219980 (GRCh38)
7:73634310 (GRCh37)
Canonical SPDI:: NC_000007.14:74219979:G:A,NC_000007.14:74219979:G:C
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.74219980G>A, NC_000007.14:g.74219980G>C, NC_000007.13:g.73634310G>A, NC_000007.13:g.73634310G>C, NG_023256.1:g.15224G>A, NG_023256.1:g.15224G>C, NM_014146.4:c.199G>A, NM_014146.4:c.199G>C, NM_014146.3:c.199G>A, NM_014146.3:c.199G>C, NM_032464.3:c.199G>A, NM_032464.3:c.199G>C, NM_032464.2:c.199G>A, NM_032464.2:c.199G>C, NM_032463.3:c.199G>A, NM_032463.3:c.199G>C, NM_032463.2:c.199G>A, NM_032463.2:c.199G>C, NW_003871064.1:g.1749216G>A, NW_003871064.1:g.1749216G>C, NM_022040.3:c.199G>A, NM_022040.3:c.199G>C, XM_011516558.2:c.199G>A, XM_011516558.2:c.199G>C, XM_011516558.1:c.199G>A, XM_011516558.1:c.199G>C, NM_022040.2:c.199G>A, NM_022040.2:c.199G>C, XM_047420801.1:c.247G>A, XM_047420801.1:c.247G>C, NM_022040.1:c.199G>A, NM_022040.1:c.199G>C, NP_054865.2:p.Gly67Arg, NP_054865.2:p.Gly67Arg, NP_115853.2:p.Gly67Arg, NP_115853.2:p.Gly67Arg, NP_115852.1:p.Gly67Arg, NP_115852.1:p.Gly67Arg, XP_011514860.1:p.Gly67Arg, XP_011514860.1:p.Gly67Arg, XP_047276757.1:p.Gly83Arg, XP_047276757.1:p.Gly83Arg

Select item 14775410042.

rs1477541004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:74224169 (GRCh38)
7:73638499 (GRCh37)
Canonical SPDI:: NC_000007.14:74224168:T:A
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000007.14:g.74224169T>A, NC_000007.13:g.73638499T>A, NG_023256.1:g.19413T>A, NM_014146.4:c.600T>A, NM_014146.3:c.600T>A, NM_032464.3:c.600T>A, NM_032464.2:c.600T>A, NM_032463.3:c.600T>A, NM_032463.2:c.600T>A, NW_003871064.1:g.1753405T>A, NM_022040.3:c.600T>A, XM_011516558.2:c.600T>A, XM_011516558.1:c.600T>A, NM_022040.2:c.600T>A, XM_047420801.1:c.648T>A, NM_022040.1:c.600T>A, NP_054865.2:p.His200Gln, NP_115853.2:p.His200Gln, NP_115852.1:p.His200Gln, XP_011514860.1:p.His200Gln, XP_047276757.1:p.His216Gln

Select item 14733844373.

rs1473384437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74216026 (GRCh38)
7:73630356 (GRCh37)
Canonical SPDI:: NC_000007.14:74216025:G:A
Gene:: LAT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.74216026G>A, NC_000007.13:g.73630356G>A, NG_023256.1:g.11270G>A, NM_014146.4:c.51G>A, NM_014146.3:c.51G>A, NM_032464.3:c.51G>A, NM_032464.2:c.51G>A, NM_032463.3:c.51G>A, NM_032463.2:c.51G>A, NW_003871064.1:g.1745262G>A, NM_022040.3:c.51G>A, XM_011516558.2:c.51G>A, XM_011516558.1:c.51G>A, NM_022040.2:c.51G>A, XM_047420801.1:c.99G>A, NM_022040.1:c.51G>A

Select item 14632189414.

rs1463218941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:74221683 (GRCh38)
7:73636013 (GRCh37)
Canonical SPDI:: NC_000007.14:74221682:C:A
Gene:: LAT2 (Varview)
Functional Consequence:: missense_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_000007.14:g.74221683C>A, NC_000007.13:g.73636013C>A, NG_023256.1:g.16927C>A, NM_014146.4:c.379C>A, NM_014146.3:c.379C>A, NM_032464.3:c.379C>A, NM_032464.2:c.379C>A, NM_032463.3:c.379C>A, NM_032463.2:c.379C>A, NW_003871064.1:g.1750919C>A, NM_022040.3:c.379C>A, XM_011516558.2:c.379C>A, XM_011516558.1:c.379C>A, NM_022040.2:c.379C>A, XM_047420801.1:c.427C>A, NM_022040.1:c.379C>A, NP_054865.2:p.Pro127Thr, NP_115853.2:p.Pro127Thr, NP_115852.1:p.Pro127Thr, XP_011514860.1:p.Pro127Thr, XP_047276757.1:p.Pro143Thr

Select item 14345895105.

rs1434589510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74221645 (GRCh38)
7:73635975 (GRCh37)
Canonical SPDI:: NC_000007.14:74221644:T:C
Gene:: LAT2 (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)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.74221645T>C, NC_000007.13:g.73635975T>C, NG_023256.1:g.16889T>C, NM_014146.4:c.341T>C, NM_014146.3:c.341T>C, NM_032464.3:c.341T>C, NM_032464.2:c.341T>C, NM_032463.3:c.341T>C, NM_032463.2:c.341T>C, NW_003871064.1:g.1750881T>C, NM_022040.3:c.341T>C, XM_011516558.2:c.341T>C, XM_011516558.1:c.341T>C, NM_022040.2:c.341T>C, XM_047420801.1:c.389T>C, NM_022040.1:c.341T>C, NP_054865.2:p.Ile114Thr, NP_115853.2:p.Ile114Thr, NP_115852.1:p.Ile114Thr, XP_011514860.1:p.Ile114Thr, XP_047276757.1:p.Ile130Thr

Select item 14201708686.

rs1420170868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:74224165 (GRCh38)
7:73638495 (GRCh37)
Canonical SPDI:: NC_000007.14:74224164:T:A
Gene:: LAT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.74224165T>A, NC_000007.13:g.73638495T>A, NG_023256.1:g.19409T>A, NM_014146.4:c.596T>A, NM_014146.3:c.596T>A, NM_032464.3:c.596T>A, NM_032464.2:c.596T>A, NM_032463.3:c.596T>A, NM_032463.2:c.596T>A, NW_003871064.1:g.1753401T>A, NM_022040.3:c.596T>A, XM_011516558.2:c.596T>A, XM_011516558.1:c.596T>A, NM_022040.2:c.596T>A, XM_047420801.1:c.644T>A, NM_022040.1:c.596T>A, NP_054865.2:p.Ile199Asn, NP_115853.2:p.Ile199Asn, NP_115852.1:p.Ile199Asn, XP_011514860.1:p.Ile199Asn, XP_047276757.1:p.Ile215Asn

Select item 14063410437.

rs1406341043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:74220589 (GRCh38)
7:73634919 (GRCh37)
Canonical SPDI:: NC_000007.14:74220588:G:C
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74220589G>C, NC_000007.13:g.73634919G>C, NG_023256.1:g.15833G>C, NM_014146.4:c.271G>C, NM_014146.3:c.271G>C, NM_032464.3:c.271G>C, NM_032464.2:c.271G>C, NM_032463.3:c.271G>C, NM_032463.2:c.271G>C, NW_003871064.1:g.1749825G>C, NM_022040.3:c.271G>C, XM_011516558.2:c.271G>C, XM_011516558.1:c.271G>C, NM_022040.2:c.271G>C, XM_047420801.1:c.319G>C, NM_022040.1:c.271G>C, NP_054865.2:p.Ala91Pro, NP_115853.2:p.Ala91Pro, NP_115852.1:p.Ala91Pro, XP_011514860.1:p.Ala91Pro, XP_047276757.1:p.Ala107Pro

Select item 13935488088.

rs1393548808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74220243 (GRCh38)
7:73634573 (GRCh37)
Canonical SPDI:: NC_000007.14:74220242:C:G
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74220243C>G, NC_000007.13:g.73634573C>G, NG_023256.1:g.15487C>G, NM_014146.4:c.254C>G, NM_014146.3:c.254C>G, NM_032464.3:c.254C>G, NM_032464.2:c.254C>G, NM_032463.3:c.254C>G, NM_032463.2:c.254C>G, NW_003871064.1:g.1749479C>G, NM_022040.3:c.254C>G, XM_011516558.2:c.254C>G, XM_011516558.1:c.254C>G, NM_022040.2:c.254C>G, XM_047420801.1:c.302C>G, NM_022040.1:c.254C>G, NP_054865.2:p.Pro85Arg, NP_115853.2:p.Pro85Arg, NP_115852.1:p.Pro85Arg, XP_011514860.1:p.Pro85Arg, XP_047276757.1:p.Pro101Arg

Select item 13823941659.

rs1382394165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:74220232 (GRCh38)
7:73634562 (GRCh37)
Canonical SPDI:: NC_000007.14:74220231:G:C,NC_000007.14:74220231:G:T
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.74220232G>C, NC_000007.14:g.74220232G>T, NC_000007.13:g.73634562G>C, NC_000007.13:g.73634562G>T, NG_023256.1:g.15476G>C, NG_023256.1:g.15476G>T, NM_014146.4:c.243G>C, NM_014146.4:c.243G>T, NM_014146.3:c.243G>C, NM_014146.3:c.243G>T, NM_032464.3:c.243G>C, NM_032464.3:c.243G>T, NM_032464.2:c.243G>C, NM_032464.2:c.243G>T, NM_032463.3:c.243G>C, NM_032463.3:c.243G>T, NM_032463.2:c.243G>C, NM_032463.2:c.243G>T, NW_003871064.1:g.1749468G>C, NW_003871064.1:g.1749468G>T, NM_022040.3:c.243G>C, NM_022040.3:c.243G>T, XM_011516558.2:c.243G>C, XM_011516558.2:c.243G>T, XM_011516558.1:c.243G>C, XM_011516558.1:c.243G>T, NM_022040.2:c.243G>C, NM_022040.2:c.243G>T, XM_047420801.1:c.291G>C, XM_047420801.1:c.291G>T, NM_022040.1:c.243G>C, NM_022040.1:c.243G>T, NP_054865.2:p.Leu81Phe, NP_054865.2:p.Leu81Phe, NP_115853.2:p.Leu81Phe, NP_115853.2:p.Leu81Phe, NP_115852.1:p.Leu81Phe, NP_115852.1:p.Leu81Phe, XP_011514860.1:p.Leu81Phe, XP_011514860.1:p.Leu81Phe, XP_047276757.1:p.Leu97Phe, XP_047276757.1:p.Leu97Phe

Select item 138138305610.

rs1381383056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:74224641 (GRCh38)
7:73638971 (GRCh37)
Canonical SPDI:: NC_000007.14:74224640:C:A,NC_000007.14:74224640:C:T
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,stop_gained,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_000007.14:g.74224641C>A, NC_000007.14:g.74224641C>T, NC_000007.13:g.73638971C>A, NC_000007.13:g.73638971C>T, NG_023256.1:g.19885C>A, NG_023256.1:g.19885C>T, NM_014146.4:c.631C>A, NM_014146.4:c.631C>T, NM_014146.3:c.631C>A, NM_014146.3:c.631C>T, NM_032464.3:c.631C>A, NM_032464.3:c.631C>T, NM_032464.2:c.631C>A, NM_032464.2:c.631C>T, NM_032463.3:c.631C>A, NM_032463.3:c.631C>T, NM_032463.2:c.631C>A, NM_032463.2:c.631C>T, NW_003871064.1:g.1753877C>A, NW_003871064.1:g.1753877C>T, NM_022040.3:c.631C>A, NM_022040.3:c.631C>T, XM_011516558.2:c.631C>A, XM_011516558.2:c.631C>T, XM_011516558.1:c.631C>A, XM_011516558.1:c.631C>T, NM_022040.2:c.631C>A, NM_022040.2:c.631C>T, XM_047420801.1:c.679C>A, XM_047420801.1:c.679C>T, NM_022040.1:c.631C>A, NM_022040.1:c.631C>T, NP_054865.2:p.Gln211Lys, NP_054865.2:p.Gln211Ter, NP_115853.2:p.Gln211Lys, NP_115853.2:p.Gln211Ter, NP_115852.1:p.Gln211Lys, NP_115852.1:p.Gln211Ter, XP_011514860.1:p.Gln211Lys, XP_011514860.1:p.Gln211Ter, XP_047276757.1:p.Gln227Lys, XP_047276757.1:p.Gln227Ter

Select item 137755624211.

rs1377556242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74221668 (GRCh38)
7:73635998 (GRCh37)
Canonical SPDI:: NC_000007.14:74221667:G:A
Gene:: LAT2 (Varview)
Functional Consequence:: missense_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_000007.14:g.74221668G>A, NC_000007.13:g.73635998G>A, NG_023256.1:g.16912G>A, NM_014146.4:c.364G>A, NM_014146.3:c.364G>A, NM_032464.3:c.364G>A, NM_032464.2:c.364G>A, NM_032463.3:c.364G>A, NM_032463.2:c.364G>A, NW_003871064.1:g.1750904G>A, NM_022040.3:c.364G>A, XM_011516558.2:c.364G>A, XM_011516558.1:c.364G>A, NM_022040.2:c.364G>A, XM_047420801.1:c.412G>A, NM_022040.1:c.364G>A, NP_054865.2:p.Gly122Arg, NP_115853.2:p.Gly122Arg, NP_115852.1:p.Gly122Arg, XP_011514860.1:p.Gly122Arg, XP_047276757.1:p.Gly138Arg

Select item 137701099512.

rs1377010995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:74223758 (GRCh38)
7:73638088 (GRCh37)
Canonical SPDI:: NC_000007.14:74223757:T:A
Gene:: LAT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.74223758T>A, NC_000007.13:g.73638088T>A, NG_023256.1:g.19002T>A, NM_014146.4:c.423T>A, NM_014146.3:c.423T>A, NM_032464.3:c.423T>A, NM_032464.2:c.423T>A, NM_032463.3:c.423T>A, NM_032463.2:c.423T>A, NW_003871064.1:g.1752994T>A, NM_022040.3:c.423T>A, XM_011516558.2:c.423T>A, XM_011516558.1:c.423T>A, NM_022040.2:c.423T>A, XM_047420801.1:c.471T>A, NM_022040.1:c.423T>A

Select item 137624809513.

rs1376248095 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:74216841 (GRCh38)
7:73631172 (GRCh37)
Canonical SPDI:: NC_000007.14:74216841:AAAA:AAAAA
Gene:: LAT2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74216845dup, NC_000007.13:g.73631175dup, NG_023256.1:g.12089dup, NM_014146.4:c.115dup, NM_014146.3:c.115dup, NM_032464.3:c.115dup, NM_032464.2:c.115dup, NM_032463.3:c.115dup, NM_032463.2:c.115dup, NW_003871064.1:g.1746081dup, NM_022040.3:c.115dup, XM_011516558.2:c.115dup, XM_011516558.1:c.115dup, NM_022040.2:c.115dup, XM_047420801.1:c.163dup, NM_022040.1:c.115dup, NP_054865.2:p.Ile39fs, NP_115853.2:p.Ile39fs, NP_115852.1:p.Ile39fs, XP_011514860.1:p.Ile39fs, XP_047276757.1:p.Ile55fs

Select item 135609684114.

rs1356096841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74220704 (GRCh38)
7:73635034 (GRCh37)
Canonical SPDI:: NC_000007.14:74220703:G:A
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74220704G>A, NC_000007.13:g.73635034G>A, NG_023256.1:g.15948G>A, NM_014146.4:c.302G>A, NM_014146.3:c.302G>A, NM_032464.3:c.302G>A, NM_032464.2:c.302G>A, NM_032463.3:c.302G>A, NM_032463.2:c.302G>A, NW_003871064.1:g.1749940G>A, NM_022040.3:c.302G>A, XM_011516558.2:c.302G>A, XM_011516558.1:c.302G>A, NM_022040.2:c.302G>A, XM_047420801.1:c.350G>A, NM_022040.1:c.302G>A, NP_054865.2:p.Gly101Glu, NP_115853.2:p.Gly101Glu, NP_115852.1:p.Gly101Glu, XP_011514860.1:p.Gly101Glu, XP_047276757.1:p.Gly117Glu

Select item 135449217915.

rs1354492179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:74224715 (GRCh38)
7:73639045 (GRCh37)
Canonical SPDI:: NC_000007.14:74224714:T:C,NC_000007.14:74224714:T:G
Gene:: LAT2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74224715T>C, NC_000007.14:g.74224715T>G, NC_000007.13:g.73639045T>C, NC_000007.13:g.73639045T>G, NG_023256.1:g.19959T>C, NG_023256.1:g.19959T>G, NM_014146.4:c.705T>C, NM_014146.4:c.705T>G, NM_014146.3:c.705T>C, NM_014146.3:c.705T>G, NM_032464.3:c.705T>C, NM_032464.3:c.705T>G, NM_032464.2:c.705T>C, NM_032464.2:c.705T>G, NM_032463.3:c.705T>C, NM_032463.3:c.705T>G, NM_032463.2:c.705T>C, NM_032463.2:c.705T>G, NW_003871064.1:g.1753951T>C, NW_003871064.1:g.1753951T>G, NM_022040.3:c.705T>C, NM_022040.3:c.705T>G, XM_011516558.2:c.705T>C, XM_011516558.2:c.705T>G, XM_011516558.1:c.705T>C, XM_011516558.1:c.705T>G, NM_022040.2:c.705T>C, NM_022040.2:c.705T>G, XM_047420801.1:c.753T>C, XM_047420801.1:c.753T>G, NM_022040.1:c.705T>C, NM_022040.1:c.705T>G, NP_054865.2:p.Asn235Lys, NP_115853.2:p.Asn235Lys, NP_115852.1:p.Asn235Lys, XP_011514860.1:p.Asn235Lys, XP_047276757.1:p.Asn251Lys

Select item 134369791316.

rs1343697913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74219967 (GRCh38)
7:73634297 (GRCh37)
Canonical SPDI:: NC_000007.14:74219966:G:A
Gene:: LAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74219967G>A, NC_000007.13:g.73634297G>A, NG_023256.1:g.15211G>A, NM_014146.4:c.186G>A, NM_014146.3:c.186G>A, NM_032464.3:c.186G>A, NM_032464.2:c.186G>A, NM_032463.3:c.186G>A, NM_032463.2:c.186G>A, NW_003871064.1:g.1749203G>A, NM_022040.3:c.186G>A, XM_011516558.2:c.186G>A, XM_011516558.1:c.186G>A, NM_022040.2:c.186G>A, XM_047420801.1:c.234G>A, NM_022040.1:c.186G>A

Select item 133239861117.

rs1332398611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74220238 (GRCh38)
7:73634568 (GRCh37)
Canonical SPDI:: NC_000007.14:74220237:C:T
Gene:: LAT2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74220238C>T, NC_000007.13:g.73634568C>T, NG_023256.1:g.15482C>T, NM_014146.4:c.249C>T, NM_014146.3:c.249C>T, NM_032464.3:c.249C>T, NM_032464.2:c.249C>T, NM_032463.3:c.249C>T, NM_032463.2:c.249C>T, NW_003871064.1:g.1749474C>T, NM_022040.3:c.249C>T, XM_011516558.2:c.249C>T, XM_011516558.1:c.249C>T, NM_022040.2:c.249C>T, XM_047420801.1:c.297C>T, NM_022040.1:c.249C>T

Select item 130958736418.

rs1309587364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74224195 (GRCh38)
7:73638525 (GRCh37)
Canonical SPDI:: NC_000007.14:74224194:T:C
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.74224195T>C, NC_000007.13:g.73638525T>C, NG_023256.1:g.19439T>C, NM_014146.4:c.626T>C, NM_014146.3:c.626T>C, NM_032464.3:c.626T>C, NM_032464.2:c.626T>C, NM_032463.3:c.626T>C, NM_032463.2:c.626T>C, NW_003871064.1:g.1753431T>C, NM_022040.3:c.626T>C, XM_011516558.2:c.626T>C, XM_011516558.1:c.626T>C, NM_022040.2:c.626T>C, XM_047420801.1:c.674T>C, NM_022040.1:c.626T>C, NP_054865.2:p.Met209Thr, NP_115853.2:p.Met209Thr, NP_115852.1:p.Met209Thr, XP_011514860.1:p.Met209Thr, XP_047276757.1:p.Met225Thr

Select item 130490282819.

rs1304902828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74221653 (GRCh38)
7:73635983 (GRCh37)
Canonical SPDI:: NC_000007.14:74221652:G:A
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74221653G>A, NC_000007.13:g.73635983G>A, NG_023256.1:g.16897G>A, NM_014146.4:c.349G>A, NM_014146.3:c.349G>A, NM_032464.3:c.349G>A, NM_032464.2:c.349G>A, NM_032463.3:c.349G>A, NM_032463.2:c.349G>A, NW_003871064.1:g.1750889G>A, NM_022040.3:c.349G>A, XM_011516558.2:c.349G>A, XM_011516558.1:c.349G>A, NM_022040.2:c.349G>A, XM_047420801.1:c.397G>A, NM_022040.1:c.349G>A, NP_054865.2:p.Glu117Lys, NP_115853.2:p.Glu117Lys, NP_115852.1:p.Glu117Lys, XP_011514860.1:p.Glu117Lys, XP_047276757.1:p.Glu133Lys

Select item 130100669020.

rs1301006690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:74224075 (GRCh38)
7:73638405 (GRCh37)
Canonical SPDI:: NC_000007.14:74224074:C:A,NC_000007.14:74224074:C:T
Gene:: LAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.74224075C>A, NC_000007.14:g.74224075C>T, NC_000007.13:g.73638405C>A, NC_000007.13:g.73638405C>T, NG_023256.1:g.19319C>A, NG_023256.1:g.19319C>T, NM_014146.4:c.506C>A, NM_014146.4:c.506C>T, NM_014146.3:c.506C>A, NM_014146.3:c.506C>T, NM_032464.3:c.506C>A, NM_032464.3:c.506C>T, NM_032464.2:c.506C>A, NM_032464.2:c.506C>T, NM_032463.3:c.506C>A, NM_032463.3:c.506C>T, NM_032463.2:c.506C>A, NM_032463.2:c.506C>T, NW_003871064.1:g.1753311C>A, NW_003871064.1:g.1753311C>T, NM_022040.3:c.506C>A, NM_022040.3:c.506C>T, XM_011516558.2:c.506C>A, XM_011516558.2:c.506C>T, XM_011516558.1:c.506C>A, XM_011516558.1:c.506C>T, NM_022040.2:c.506C>A, NM_022040.2:c.506C>T, XM_047420801.1:c.554C>A, XM_047420801.1:c.554C>T, NM_022040.1:c.506C>A, NM_022040.1:c.506C>T, NP_054865.2:p.Ala169Asp, NP_054865.2:p.Ala169Val, NP_115853.2:p.Ala169Asp, NP_115853.2:p.Ala169Val, NP_115852.1:p.Ala169Asp, NP_115852.1:p.Ala169Val, XP_011514860.1:p.Ala169Asp, XP_011514860.1:p.Ala169Val, XP_047276757.1:p.Ala185Asp, XP_047276757.1:p.Ala185Val

dbSNP

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Result Filters

Validation Status

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 205

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