SNP Links for Protein (Select 40254478) - SNP

Links from Protein

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Select item 14887936201.

rs1488793620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35292485 (GRCh38)
11:35314032 (GRCh37)
Canonical SPDI:: NC_000011.10:35292484:C:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35292485C>T, NC_000011.9:g.35314032C>T, NG_008727.2:g.132074G>A, NM_004171.4:c.893G>A, NM_004171.3:c.893G>A, NM_001195728.3:c.866G>A, NM_001195728.2:c.866G>A, NM_001252652.2:c.866G>A, NM_001252652.1:c.866G>A, XM_017018137.2:c.866G>A, XM_017018137.1:c.866G>A, XM_017018138.2:c.866G>A, XM_017018138.1:c.866G>A, XM_011520285.2:c.881G>A, XM_011520285.1:c.881G>A, XM_017018136.1:c.908G>A, XM_047427436.1:c.977G>A, XM_047427442.1:c.866G>A, XM_047427443.1:c.866G>A, XM_047427438.1:c.866G>A, XM_047427437.1:c.887G>A, XM_047427440.1:c.866G>A, NP_004162.2:p.Gly298Glu, NP_001182657.1:p.Gly289Glu, NP_001239581.1:p.Gly289Glu, XP_016873626.1:p.Gly289Glu, XP_016873627.1:p.Gly289Glu, XP_011518587.1:p.Gly294Glu, XP_016873625.1:p.Gly303Glu, XP_047283392.1:p.Gly326Glu, XP_047283398.1:p.Gly289Glu, XP_047283399.1:p.Gly289Glu, XP_047283394.1:p.Gly289Glu, XP_047283393.1:p.Gly296Glu, XP_047283396.1:p.Gly289Glu

Select item 14805498392.

rs1480549839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:35260913 (GRCh38)
11:35282460 (GRCh37)
Canonical SPDI:: NC_000011.10:35260912:G:A
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.35260913G>A, NC_000011.9:g.35282460G>A, NG_008727.2:g.163646C>T, NM_004171.4:c.1706C>T, NM_004171.3:c.1706C>T, NM_001195728.3:c.1679C>T, NM_001195728.2:c.1679C>T, NM_001252652.2:c.1679C>T, NM_001252652.1:c.1679C>T, XM_017018139.2:c.1472C>T, XM_017018139.1:c.1472C>T, XM_017018137.2:c.1679C>T, XM_017018137.1:c.1679C>T, XM_017018138.2:c.1679C>T, XM_017018138.1:c.1679C>T, XM_011520285.2:c.1694C>T, XM_011520285.1:c.1694C>T, XM_017018136.1:c.1721C>T, XM_047427436.1:c.1790C>T, XM_047427441.1:c.1556C>T, XM_047427442.1:c.1679C>T, XM_047427443.1:c.1679C>T, XM_047427438.1:c.1679C>T, XM_047427437.1:c.1700C>T, XM_047427440.1:c.1679C>T, NP_004162.2:p.Pro569Leu, NP_001182657.1:p.Pro560Leu, NP_001239581.1:p.Pro560Leu, XP_016873628.1:p.Pro491Leu, XP_016873626.1:p.Pro560Leu, XP_016873627.1:p.Pro560Leu, XP_011518587.1:p.Pro565Leu, XP_016873625.1:p.Pro574Leu, XP_047283392.1:p.Pro597Leu, XP_047283397.1:p.Pro519Leu, XP_047283398.1:p.Pro560Leu, XP_047283399.1:p.Pro560Leu, XP_047283394.1:p.Pro560Leu, XP_047283393.1:p.Pro567Leu, XP_047283396.1:p.Pro560Leu

Select item 14796752123.

rs1479675212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:35306128 (GRCh38)
11:35327675 (GRCh37)
Canonical SPDI:: NC_000011.10:35306127:T:A,NC_000011.10:35306127:T:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.35306128T>A, NC_000011.10:g.35306128T>C, NC_000011.9:g.35327675T>A, NC_000011.9:g.35327675T>C, NG_008727.2:g.118431A>T, NG_008727.2:g.118431A>G, NM_004171.4:c.676A>T, NM_004171.4:c.676A>G, NM_004171.3:c.676A>T, NM_004171.3:c.676A>G, NM_001195728.3:c.649A>T, NM_001195728.3:c.649A>G, NM_001195728.2:c.649A>T, NM_001195728.2:c.649A>G, NM_001252652.2:c.649A>T, NM_001252652.2:c.649A>G, NM_001252652.1:c.649A>T, NM_001252652.1:c.649A>G, XM_017018139.2:c.676A>T, XM_017018139.2:c.676A>G, XM_017018139.1:c.676A>T, XM_017018139.1:c.676A>G, XM_017018137.2:c.649A>T, XM_017018137.2:c.649A>G, XM_017018137.1:c.649A>T, XM_017018137.1:c.649A>G, XM_017018138.2:c.649A>T, XM_017018138.2:c.649A>G, XM_017018138.1:c.649A>T, XM_017018138.1:c.649A>G, XM_011520285.2:c.664A>T, XM_011520285.2:c.664A>G, XM_011520285.1:c.664A>T, XM_011520285.1:c.664A>G, XM_017018136.1:c.691A>T, XM_017018136.1:c.691A>G, XM_047427436.1:c.760A>T, XM_047427436.1:c.760A>G, XM_047427441.1:c.760A>T, XM_047427441.1:c.760A>G, XM_047427442.1:c.649A>T, XM_047427442.1:c.649A>G, XM_047427443.1:c.649A>T, XM_047427443.1:c.649A>G, XM_047427438.1:c.649A>T, XM_047427438.1:c.649A>G, XM_047427437.1:c.670A>T, XM_047427437.1:c.670A>G, XM_047427440.1:c.649A>T, XM_047427440.1:c.649A>G, NP_004162.2:p.Thr226Ser, NP_004162.2:p.Thr226Ala, NP_001182657.1:p.Thr217Ser, NP_001182657.1:p.Thr217Ala, NP_001239581.1:p.Thr217Ser, NP_001239581.1:p.Thr217Ala, XP_016873628.1:p.Thr226Ser, XP_016873628.1:p.Thr226Ala, XP_016873626.1:p.Thr217Ser, XP_016873626.1:p.Thr217Ala, XP_016873627.1:p.Thr217Ser, XP_016873627.1:p.Thr217Ala, XP_011518587.1:p.Thr222Ser, XP_011518587.1:p.Thr222Ala, XP_016873625.1:p.Thr231Ser, XP_016873625.1:p.Thr231Ala, XP_047283392.1:p.Thr254Ser, XP_047283392.1:p.Thr254Ala, XP_047283397.1:p.Thr254Ser, XP_047283397.1:p.Thr254Ala, XP_047283398.1:p.Thr217Ser, XP_047283398.1:p.Thr217Ala, XP_047283399.1:p.Thr217Ser, XP_047283399.1:p.Thr217Ala, XP_047283394.1:p.Thr217Ser, XP_047283394.1:p.Thr217Ala, XP_047283393.1:p.Thr224Ser, XP_047283393.1:p.Thr224Ala, XP_047283396.1:p.Thr217Ser, XP_047283396.1:p.Thr217Ala

Select item 14773076214.

rs1477307621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:35315042 (GRCh38)
11:35336589 (GRCh37)
Canonical SPDI:: NC_000011.10:35315041:G:T
Gene:: SLC1A2 (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_000011.10:g.35315042G>T, NC_000011.9:g.35336589G>T, NG_008727.2:g.109517C>A, NM_004171.4:c.291C>A, NM_004171.3:c.291C>A, NM_001195728.3:c.264C>A, NM_001195728.2:c.264C>A, NM_001252652.2:c.264C>A, NM_001252652.1:c.264C>A, XM_017018139.2:c.291C>A, XM_017018139.1:c.291C>A, XM_017018137.2:c.264C>A, XM_017018137.1:c.264C>A, XM_017018138.2:c.264C>A, XM_017018138.1:c.264C>A, XM_011520285.2:c.279C>A, XM_011520285.1:c.279C>A, XM_017018136.1:c.306C>A, XM_047427436.1:c.375C>A, XM_047427441.1:c.375C>A, XM_047427442.1:c.264C>A, XM_047427443.1:c.264C>A, XM_047427438.1:c.264C>A, XM_047427437.1:c.285C>A, XM_047427440.1:c.264C>A

Select item 14756668975.

rs1475666897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:35306105 (GRCh38)
11:35327652 (GRCh37)
Canonical SPDI:: NC_000011.10:35306104:G:A
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.35306105G>A, NC_000011.9:g.35327652G>A, NG_008727.2:g.118454C>T, NM_004171.4:c.699C>T, NM_004171.3:c.699C>T, NM_001195728.3:c.672C>T, NM_001195728.2:c.672C>T, NM_001252652.2:c.672C>T, NM_001252652.1:c.672C>T, XM_017018139.2:c.699C>T, XM_017018139.1:c.699C>T, XM_017018137.2:c.672C>T, XM_017018137.1:c.672C>T, XM_017018138.2:c.672C>T, XM_017018138.1:c.672C>T, XM_011520285.2:c.687C>T, XM_011520285.1:c.687C>T, XM_017018136.1:c.714C>T, XM_047427436.1:c.783C>T, XM_047427441.1:c.783C>T, XM_047427442.1:c.672C>T, XM_047427443.1:c.672C>T, XM_047427438.1:c.672C>T, XM_047427437.1:c.693C>T, XM_047427440.1:c.672C>T

Select item 14726257666.

rs1472625766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:35280891 (GRCh38)
11:35302438 (GRCh37)
Canonical SPDI:: NC_000011.10:35280890:A:G
Gene:: SLC1A2 (Varview), SLC1A2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35280891A>G, NC_000011.9:g.35302438A>G, NG_008727.2:g.143668T>C, NM_004171.4:c.1397T>C, NM_004171.3:c.1397T>C, NM_001195728.3:c.1370T>C, NM_001195728.2:c.1370T>C, NM_001252652.2:c.1370T>C, NM_001252652.1:c.1370T>C, XM_017018139.2:c.1163T>C, XM_017018139.1:c.1163T>C, XM_017018137.2:c.1370T>C, XM_017018137.1:c.1370T>C, XM_017018138.2:c.1370T>C, XM_017018138.1:c.1370T>C, XM_011520285.2:c.1385T>C, XM_011520285.1:c.1385T>C, XM_017018136.1:c.1412T>C, XM_047427436.1:c.1481T>C, XM_047427441.1:c.1247T>C, XM_047427442.1:c.1370T>C, XM_047427443.1:c.1370T>C, XM_047427438.1:c.1370T>C, XM_047427437.1:c.1391T>C, XM_047427440.1:c.1370T>C, NP_004162.2:p.Leu466Pro, NP_001182657.1:p.Leu457Pro, NP_001239581.1:p.Leu457Pro, XP_016873628.1:p.Leu388Pro, XP_016873626.1:p.Leu457Pro, XP_016873627.1:p.Leu457Pro, XP_011518587.1:p.Leu462Pro, XP_016873625.1:p.Leu471Pro, XP_047283392.1:p.Leu494Pro, XP_047283397.1:p.Leu416Pro, XP_047283398.1:p.Leu457Pro, XP_047283399.1:p.Leu457Pro, XP_047283394.1:p.Leu457Pro, XP_047283393.1:p.Leu464Pro, XP_047283396.1:p.Leu457Pro

Select item 14705871047.

rs1470587104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35286918 (GRCh38)
11:35308465 (GRCh37)
Canonical SPDI:: NC_000011.10:35286917:C:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.35286918C>T, NC_000011.9:g.35308465C>T, NG_008727.2:g.137641G>A, NM_004171.4:c.1125G>A, NM_004171.3:c.1125G>A, NM_001195728.3:c.1098G>A, NM_001195728.2:c.1098G>A, NM_001252652.2:c.1098G>A, NM_001252652.1:c.1098G>A, XM_017018139.2:c.891G>A, XM_017018139.1:c.891G>A, XM_017018137.2:c.1098G>A, XM_017018137.1:c.1098G>A, XM_017018138.2:c.1098G>A, XM_017018138.1:c.1098G>A, XM_011520285.2:c.1113G>A, XM_011520285.1:c.1113G>A, XM_017018136.1:c.1140G>A, XM_047427436.1:c.1209G>A, XM_047427441.1:c.975G>A, XM_047427442.1:c.1098G>A, XM_047427443.1:c.1098G>A, XM_047427438.1:c.1098G>A, XM_047427437.1:c.1119G>A, XM_047427440.1:c.1098G>A

Select item 14688202268.

rs1468820226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:35315168 (GRCh38)
11:35336715 (GRCh37)
Canonical SPDI:: NC_000011.10:35315167:G:A,NC_000011.10:35315167:G:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.35315168G>A, NC_000011.10:g.35315168G>C, NC_000011.9:g.35336715G>A, NC_000011.9:g.35336715G>C, NG_008727.2:g.109391C>T, NG_008727.2:g.109391C>G, NM_004171.4:c.165C>T, NM_004171.4:c.165C>G, NM_004171.3:c.165C>T, NM_004171.3:c.165C>G, NM_001195728.3:c.138C>T, NM_001195728.3:c.138C>G, NM_001195728.2:c.138C>T, NM_001195728.2:c.138C>G, NM_001252652.2:c.138C>T, NM_001252652.2:c.138C>G, NM_001252652.1:c.138C>T, NM_001252652.1:c.138C>G, XM_017018139.2:c.165C>T, XM_017018139.2:c.165C>G, XM_017018139.1:c.165C>T, XM_017018139.1:c.165C>G, XM_017018137.2:c.138C>T, XM_017018137.2:c.138C>G, XM_017018137.1:c.138C>T, XM_017018137.1:c.138C>G, XM_017018138.2:c.138C>T, XM_017018138.2:c.138C>G, XM_017018138.1:c.138C>T, XM_017018138.1:c.138C>G, XM_011520285.2:c.153C>T, XM_011520285.2:c.153C>G, XM_011520285.1:c.153C>T, XM_011520285.1:c.153C>G, XM_017018136.1:c.180C>T, XM_017018136.1:c.180C>G, XM_047427436.1:c.249C>T, XM_047427436.1:c.249C>G, XM_047427441.1:c.249C>T, XM_047427441.1:c.249C>G, XM_047427442.1:c.138C>T, XM_047427442.1:c.138C>G, XM_047427443.1:c.138C>T, XM_047427443.1:c.138C>G, XM_047427438.1:c.138C>T, XM_047427438.1:c.138C>G, XM_047427437.1:c.159C>T, XM_047427437.1:c.159C>G, XM_047427440.1:c.138C>T, XM_047427440.1:c.138C>G, NP_004162.2:p.Ile55Met, NP_001182657.1:p.Ile46Met, NP_001239581.1:p.Ile46Met, XP_016873628.1:p.Ile55Met, XP_016873626.1:p.Ile46Met, XP_016873627.1:p.Ile46Met, XP_011518587.1:p.Ile51Met, XP_016873625.1:p.Ile60Met, XP_047283392.1:p.Ile83Met, XP_047283397.1:p.Ile83Met, XP_047283398.1:p.Ile46Met, XP_047283399.1:p.Ile46Met, XP_047283394.1:p.Ile46Met, XP_047283393.1:p.Ile53Met, XP_047283396.1:p.Ile46Met

Select item 14674164679.

rs1467416467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:35292405 (GRCh38)
11:35313952 (GRCh37)
Canonical SPDI:: NC_000011.10:35292404:T:C,NC_000011.10:35292404:T:G
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.35292405T>C, NC_000011.10:g.35292405T>G, NC_000011.9:g.35313952T>C, NC_000011.9:g.35313952T>G, NG_008727.2:g.132154A>G, NG_008727.2:g.132154A>C, NM_004171.4:c.973A>G, NM_004171.4:c.973A>C, NM_004171.3:c.973A>G, NM_004171.3:c.973A>C, NM_001195728.3:c.946A>G, NM_001195728.3:c.946A>C, NM_001195728.2:c.946A>G, NM_001195728.2:c.946A>C, NM_001252652.2:c.946A>G, NM_001252652.2:c.946A>C, NM_001252652.1:c.946A>G, NM_001252652.1:c.946A>C, XM_017018137.2:c.946A>G, XM_017018137.2:c.946A>C, XM_017018137.1:c.946A>G, XM_017018137.1:c.946A>C, XM_017018138.2:c.946A>G, XM_017018138.2:c.946A>C, XM_017018138.1:c.946A>G, XM_017018138.1:c.946A>C, XM_011520285.2:c.961A>G, XM_011520285.2:c.961A>C, XM_011520285.1:c.961A>G, XM_011520285.1:c.961A>C, XM_017018136.1:c.988A>G, XM_017018136.1:c.988A>C, XM_047427436.1:c.1057A>G, XM_047427436.1:c.1057A>C, XM_047427442.1:c.946A>G, XM_047427442.1:c.946A>C, XM_047427443.1:c.946A>G, XM_047427443.1:c.946A>C, XM_047427438.1:c.946A>G, XM_047427438.1:c.946A>C, XM_047427437.1:c.967A>G, XM_047427437.1:c.967A>C, XM_047427440.1:c.946A>G, XM_047427440.1:c.946A>C, NP_004162.2:p.Ile325Val, NP_004162.2:p.Ile325Leu, NP_001182657.1:p.Ile316Val, NP_001182657.1:p.Ile316Leu, NP_001239581.1:p.Ile316Val, NP_001239581.1:p.Ile316Leu, XP_016873626.1:p.Ile316Val, XP_016873626.1:p.Ile316Leu, XP_016873627.1:p.Ile316Val, XP_016873627.1:p.Ile316Leu, XP_011518587.1:p.Ile321Val, XP_011518587.1:p.Ile321Leu, XP_016873625.1:p.Ile330Val, XP_016873625.1:p.Ile330Leu, XP_047283392.1:p.Ile353Val, XP_047283392.1:p.Ile353Leu, XP_047283398.1:p.Ile316Val, XP_047283398.1:p.Ile316Leu, XP_047283399.1:p.Ile316Val, XP_047283399.1:p.Ile316Leu, XP_047283394.1:p.Ile316Val, XP_047283394.1:p.Ile316Leu, XP_047283393.1:p.Ile323Val, XP_047283393.1:p.Ile323Leu, XP_047283396.1:p.Ile316Val, XP_047283396.1:p.Ile316Leu

Select item 146503779710.

rs1465037797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:35260898 (GRCh38)
11:35282445 (GRCh37)
Canonical SPDI:: NC_000011.10:35260897:T:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35260898T>C, NC_000011.9:g.35282445T>C, NG_008727.2:g.163661A>G, NM_004171.4:c.1721A>G, NM_004171.3:c.1721A>G, NM_001195728.3:c.1694A>G, NM_001195728.2:c.1694A>G, NM_001252652.2:c.1694A>G, NM_001252652.1:c.1694A>G, XM_017018139.2:c.1487A>G, XM_017018139.1:c.1487A>G, XM_017018137.2:c.1694A>G, XM_017018137.1:c.1694A>G, XM_017018138.2:c.1694A>G, XM_017018138.1:c.1694A>G, XM_011520285.2:c.1709A>G, XM_011520285.1:c.1709A>G, XM_017018136.1:c.1736A>G, XM_047427436.1:c.1805A>G, XM_047427441.1:c.1571A>G, XM_047427442.1:c.1694A>G, XM_047427443.1:c.1694A>G, XM_047427438.1:c.1694A>G, XM_047427437.1:c.1715A>G, XM_047427440.1:c.1694A>G, NP_004162.2:p.Lys574Arg, NP_001182657.1:p.Lys565Arg, NP_001239581.1:p.Lys565Arg, XP_016873628.1:p.Lys496Arg, XP_016873626.1:p.Lys565Arg, XP_016873627.1:p.Lys565Arg, XP_011518587.1:p.Lys570Arg, XP_016873625.1:p.Lys579Arg, XP_047283392.1:p.Lys602Arg, XP_047283397.1:p.Lys524Arg, XP_047283398.1:p.Lys565Arg, XP_047283399.1:p.Lys565Arg, XP_047283394.1:p.Lys565Arg, XP_047283393.1:p.Lys572Arg, XP_047283396.1:p.Lys565Arg

Select item 146430520711.

rs1464305207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:35265698 (GRCh38)
11:35287245 (GRCh37)
Canonical SPDI:: NC_000011.10:35265697:A:G
Gene:: SLC1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
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_000011.10:g.35265698A>G, NC_000011.9:g.35287245A>G, NG_008727.2:g.158861T>C, NM_004171.4:c.1482T>C, NM_004171.3:c.1482T>C, NM_001195728.3:c.1455T>C, NM_001195728.2:c.1455T>C, NM_001252652.2:c.1455T>C, NM_001252652.1:c.1455T>C, XM_017018139.2:c.1248T>C, XM_017018139.1:c.1248T>C, XM_017018137.2:c.1455T>C, XM_017018137.1:c.1455T>C, XM_017018138.2:c.1455T>C, XM_017018138.1:c.1455T>C, XM_011520285.2:c.1470T>C, XM_011520285.1:c.1470T>C, XM_017018136.1:c.1497T>C, XM_047427436.1:c.1566T>C, XM_047427441.1:c.1332T>C, XM_047427442.1:c.1455T>C, XM_047427443.1:c.1455T>C, XM_047427438.1:c.1455T>C, XM_047427437.1:c.1476T>C, XM_047427440.1:c.1455T>C

Select item 146227571212.

rs1462275712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:35317470 (GRCh38)
11:35339017 (GRCh37)
Canonical SPDI:: NC_000011.10:35317469:G:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35317470G>T, NC_000011.9:g.35339017G>T, NG_008727.2:g.107089C>A, NM_004171.4:c.64C>A, NM_004171.3:c.64C>A, NM_001195728.3:c.37C>A, NM_001195728.2:c.37C>A, NM_001252652.2:c.37C>A, NM_001252652.1:c.37C>A, XM_017018139.2:c.64C>A, XM_017018139.1:c.64C>A, XM_017018137.2:c.37C>A, XM_017018137.1:c.37C>A, XM_017018138.2:c.37C>A, XM_017018138.1:c.37C>A, XM_011520285.2:c.52C>A, XM_011520285.1:c.52C>A, XM_017018136.1:c.79C>A, XM_047427436.1:c.148C>A, XM_047427441.1:c.148C>A, XM_047427442.1:c.37C>A, XM_047427443.1:c.37C>A, XM_047427438.1:c.37C>A, XM_047427437.1:c.58C>A, XM_047427440.1:c.37C>A, NP_004162.2:p.His22Asn, NP_001182657.1:p.His13Asn, NP_001239581.1:p.His13Asn, XP_016873628.1:p.His22Asn, XP_016873626.1:p.His13Asn, XP_016873627.1:p.His13Asn, XP_011518587.1:p.His18Asn, XP_016873625.1:p.His27Asn, XP_047283392.1:p.His50Asn, XP_047283397.1:p.His50Asn, XP_047283398.1:p.His13Asn, XP_047283399.1:p.His13Asn, XP_047283394.1:p.His13Asn, XP_047283393.1:p.His20Asn, XP_047283396.1:p.His13Asn

Select item 146088189713.

rs1460881897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:35312329 (GRCh38)
11:35333876 (GRCh37)
Canonical SPDI:: NC_000011.10:35312328:G:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.35312329G>C, NC_000011.9:g.35333876G>C, NG_008727.2:g.112230C>G, NM_004171.4:c.430C>G, NM_004171.3:c.430C>G, NM_001195728.3:c.403C>G, NM_001195728.2:c.403C>G, NM_001252652.2:c.403C>G, NM_001252652.1:c.403C>G, XM_017018139.2:c.430C>G, XM_017018139.1:c.430C>G, XM_017018137.2:c.403C>G, XM_017018137.1:c.403C>G, XM_017018138.2:c.403C>G, XM_017018138.1:c.403C>G, XM_011520285.2:c.418C>G, XM_011520285.1:c.418C>G, XM_017018136.1:c.445C>G, XM_047427436.1:c.514C>G, XM_047427441.1:c.514C>G, XM_047427442.1:c.403C>G, XM_047427443.1:c.403C>G, XM_047427438.1:c.403C>G, XM_047427437.1:c.424C>G, XM_047427440.1:c.403C>G, NP_004162.2:p.Pro144Ala, NP_001182657.1:p.Pro135Ala, NP_001239581.1:p.Pro135Ala, XP_016873628.1:p.Pro144Ala, XP_016873626.1:p.Pro135Ala, XP_016873627.1:p.Pro135Ala, XP_011518587.1:p.Pro140Ala, XP_016873625.1:p.Pro149Ala, XP_047283392.1:p.Pro172Ala, XP_047283397.1:p.Pro172Ala, XP_047283398.1:p.Pro135Ala, XP_047283399.1:p.Pro135Ala, XP_047283394.1:p.Pro135Ala, XP_047283393.1:p.Pro142Ala, XP_047283396.1:p.Pro135Ala

Select item 146032102514.

rs1460321025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:35315112 (GRCh38)
11:35336659 (GRCh37)
Canonical SPDI:: NC_000011.10:35315111:A:G,NC_000011.10:35315111:A:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.35315112A>G, NC_000011.10:g.35315112A>T, NC_000011.9:g.35336659A>G, NC_000011.9:g.35336659A>T, NG_008727.2:g.109447T>C, NG_008727.2:g.109447T>A, NM_004171.4:c.221T>C, NM_004171.4:c.221T>A, NM_004171.3:c.221T>C, NM_004171.3:c.221T>A, NM_001195728.3:c.194T>C, NM_001195728.3:c.194T>A, NM_001195728.2:c.194T>C, NM_001195728.2:c.194T>A, NM_001252652.2:c.194T>C, NM_001252652.2:c.194T>A, NM_001252652.1:c.194T>C, NM_001252652.1:c.194T>A, XM_017018139.2:c.221T>C, XM_017018139.2:c.221T>A, XM_017018139.1:c.221T>C, XM_017018139.1:c.221T>A, XM_017018137.2:c.194T>C, XM_017018137.2:c.194T>A, XM_017018137.1:c.194T>C, XM_017018137.1:c.194T>A, XM_017018138.2:c.194T>C, XM_017018138.2:c.194T>A, XM_017018138.1:c.194T>C, XM_017018138.1:c.194T>A, XM_011520285.2:c.209T>C, XM_011520285.2:c.209T>A, XM_011520285.1:c.209T>C, XM_011520285.1:c.209T>A, XM_017018136.1:c.236T>C, XM_017018136.1:c.236T>A, XM_047427436.1:c.305T>C, XM_047427436.1:c.305T>A, XM_047427441.1:c.305T>C, XM_047427441.1:c.305T>A, XM_047427442.1:c.194T>C, XM_047427442.1:c.194T>A, XM_047427443.1:c.194T>C, XM_047427443.1:c.194T>A, XM_047427438.1:c.194T>C, XM_047427438.1:c.194T>A, XM_047427437.1:c.215T>C, XM_047427437.1:c.215T>A, XM_047427440.1:c.194T>C, XM_047427440.1:c.194T>A, NP_004162.2:p.Val74Ala, NP_004162.2:p.Val74Glu, NP_001182657.1:p.Val65Ala, NP_001182657.1:p.Val65Glu, NP_001239581.1:p.Val65Ala, NP_001239581.1:p.Val65Glu, XP_016873628.1:p.Val74Ala, XP_016873628.1:p.Val74Glu, XP_016873626.1:p.Val65Ala, XP_016873626.1:p.Val65Glu, XP_016873627.1:p.Val65Ala, XP_016873627.1:p.Val65Glu, XP_011518587.1:p.Val70Ala, XP_011518587.1:p.Val70Glu, XP_016873625.1:p.Val79Ala, XP_016873625.1:p.Val79Glu, XP_047283392.1:p.Val102Ala, XP_047283392.1:p.Val102Glu, XP_047283397.1:p.Val102Ala, XP_047283397.1:p.Val102Glu, XP_047283398.1:p.Val65Ala, XP_047283398.1:p.Val65Glu, XP_047283399.1:p.Val65Ala, XP_047283399.1:p.Val65Glu, XP_047283394.1:p.Val65Ala, XP_047283394.1:p.Val65Glu, XP_047283393.1:p.Val72Ala, XP_047283393.1:p.Val72Glu, XP_047283396.1:p.Val65Ala, XP_047283396.1:p.Val65Glu

Select item 145974895415.

rs1459748954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35292355 (GRCh38)
11:35313902 (GRCh37)
Canonical SPDI:: NC_000011.10:35292354:C:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35292355C>T, NC_000011.9:g.35313902C>T, NG_008727.2:g.132204G>A, NM_004171.4:c.1023G>A, NM_004171.3:c.1023G>A, NM_001195728.3:c.996G>A, NM_001195728.2:c.996G>A, NM_001252652.2:c.996G>A, NM_001252652.1:c.996G>A, XM_017018137.2:c.996G>A, XM_017018137.1:c.996G>A, XM_017018138.2:c.996G>A, XM_017018138.1:c.996G>A, XM_011520285.2:c.1011G>A, XM_011520285.1:c.1011G>A, XM_017018136.1:c.1038G>A, XM_047427436.1:c.1107G>A, XM_047427442.1:c.996G>A, XM_047427443.1:c.996G>A, XM_047427438.1:c.996G>A, XM_047427437.1:c.1017G>A, XM_047427440.1:c.996G>A

Select item 145898896916.

rs1458988969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:35286840 (GRCh38)
11:35308387 (GRCh37)
Canonical SPDI:: NC_000011.10:35286839:T:C
Gene:: SLC1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000048/12 (GnomAD_exomes)
C=0.000117/31 (TOPMED)
C=0.000157/22 (GnomAD)
HGVS:: NC_000011.10:g.35286840T>C, NC_000011.9:g.35308387T>C, NG_008727.2:g.137719A>G, NM_004171.4:c.1203A>G, NM_004171.3:c.1203A>G, NM_001195728.3:c.1176A>G, NM_001195728.2:c.1176A>G, NM_001252652.2:c.1176A>G, NM_001252652.1:c.1176A>G, XM_017018139.2:c.969A>G, XM_017018139.1:c.969A>G, XM_017018137.2:c.1176A>G, XM_017018137.1:c.1176A>G, XM_017018138.2:c.1176A>G, XM_017018138.1:c.1176A>G, XM_011520285.2:c.1191A>G, XM_011520285.1:c.1191A>G, XM_017018136.1:c.1218A>G, XM_047427436.1:c.1287A>G, XM_047427441.1:c.1053A>G, XM_047427442.1:c.1176A>G, XM_047427443.1:c.1176A>G, XM_047427438.1:c.1176A>G, XM_047427437.1:c.1197A>G, XM_047427440.1:c.1176A>G

Select item 145695546617.

rs1456955466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:35292362 (GRCh38)
11:35313909 (GRCh37)
Canonical SPDI:: NC_000011.10:35292361:A:G
Gene:: SLC1A2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35292362A>G, NC_000011.9:g.35313909A>G, NG_008727.2:g.132197T>C, NM_004171.4:c.1016T>C, NM_004171.3:c.1016T>C, NM_001195728.3:c.989T>C, NM_001195728.2:c.989T>C, NM_001252652.2:c.989T>C, NM_001252652.1:c.989T>C, XM_017018137.2:c.989T>C, XM_017018137.1:c.989T>C, XM_017018138.2:c.989T>C, XM_017018138.1:c.989T>C, XM_011520285.2:c.1004T>C, XM_011520285.1:c.1004T>C, XM_017018136.1:c.1031T>C, XM_047427436.1:c.1100T>C, XM_047427442.1:c.989T>C, XM_047427443.1:c.989T>C, XM_047427438.1:c.989T>C, XM_047427437.1:c.1010T>C, XM_047427440.1:c.989T>C, NP_004162.2:p.Val339Ala, NP_001182657.1:p.Val330Ala, NP_001239581.1:p.Val330Ala, XP_016873626.1:p.Val330Ala, XP_016873627.1:p.Val330Ala, XP_011518587.1:p.Val335Ala, XP_016873625.1:p.Val344Ala, XP_047283392.1:p.Val367Ala, XP_047283398.1:p.Val330Ala, XP_047283399.1:p.Val330Ala, XP_047283394.1:p.Val330Ala, XP_047283393.1:p.Val337Ala, XP_047283396.1:p.Val330Ala

Select item 145620249618.

rs1456202496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:35317417 (GRCh38)
11:35338964 (GRCh37)
Canonical SPDI:: NC_000011.10:35317416:G:A
Gene:: SLC1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.35317417G>A, NC_000011.9:g.35338964G>A, NG_008727.2:g.107142C>T, NM_004171.4:c.117C>T, NM_004171.3:c.117C>T, NM_001195728.3:c.90C>T, NM_001195728.2:c.90C>T, NM_001252652.2:c.90C>T, NM_001252652.1:c.90C>T, XM_017018139.2:c.117C>T, XM_017018139.1:c.117C>T, XM_017018137.2:c.90C>T, XM_017018137.1:c.90C>T, XM_017018138.2:c.90C>T, XM_017018138.1:c.90C>T, XM_011520285.2:c.105C>T, XM_011520285.1:c.105C>T, XM_017018136.1:c.132C>T, XM_047427436.1:c.201C>T, XM_047427441.1:c.201C>T, XM_047427442.1:c.90C>T, XM_047427443.1:c.90C>T, XM_047427438.1:c.90C>T, XM_047427437.1:c.111C>T, XM_047427440.1:c.90C>T

Select item 145382598019.

rs1453825980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:35312417 (GRCh38)
11:35333964 (GRCh37)
Canonical SPDI:: NC_000011.10:35312416:G:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.35312417G>T, NC_000011.9:g.35333964G>T, NG_008727.2:g.112142C>A, NM_004171.4:c.342C>A, NM_004171.3:c.342C>A, NM_001195728.3:c.315C>A, NM_001195728.2:c.315C>A, NM_001252652.2:c.315C>A, NM_001252652.1:c.315C>A, XM_017018139.2:c.342C>A, XM_017018139.1:c.342C>A, XM_017018137.2:c.315C>A, XM_017018137.1:c.315C>A, XM_017018138.2:c.315C>A, XM_017018138.1:c.315C>A, XM_011520285.2:c.330C>A, XM_011520285.1:c.330C>A, XM_017018136.1:c.357C>A, XM_047427436.1:c.426C>A, XM_047427441.1:c.426C>A, XM_047427442.1:c.315C>A, XM_047427443.1:c.315C>A, XM_047427438.1:c.315C>A, XM_047427437.1:c.336C>A, XM_047427440.1:c.315C>A

Select item 144707869220.

rs1447078692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:35317387 (GRCh38)
11:35338934 (GRCh37)
Canonical SPDI:: NC_000011.10:35317386:C:T
Gene:: SLC1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.35317387C>T, NC_000011.9:g.35338934C>T, NG_008727.2:g.107172G>A, NM_004171.4:c.147G>A, NM_004171.3:c.147G>A, NM_001195728.3:c.120G>A, NM_001195728.2:c.120G>A, NM_001252652.2:c.120G>A, NM_001252652.1:c.120G>A, XM_017018139.2:c.147G>A, XM_017018139.1:c.147G>A, XM_017018137.2:c.120G>A, XM_017018137.1:c.120G>A, XM_017018138.2:c.120G>A, XM_017018138.1:c.120G>A, XM_011520285.2:c.135G>A, XM_011520285.1:c.135G>A, XM_017018136.1:c.162G>A, XM_047427436.1:c.231G>A, XM_047427441.1:c.231G>A, XM_047427442.1:c.120G>A, XM_047427443.1:c.120G>A, XM_047427438.1:c.120G>A, XM_047427437.1:c.141G>A, XM_047427440.1:c.120G>A

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