SNP Links for Protein (Select 613410205) - SNP

Links from Protein

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Select item 14909227581.

rs1490922758 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:113657283 (GRCh38)
3:113376130 (GRCh37)
Canonical SPDI:: NC_000003.12:113657282:G:
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
HGVS:: NC_000003.12:g.113657283del, NC_000003.11:g.113376130del, NG_055006.1:g.44375del, NM_001009899.4:c.4399del, NM_001009899.3:c.4399del, NM_001009899.2:c.4399del, XM_005247208.5:c.4297del, XM_005247208.4:c.4297del, XM_005247208.3:c.4297del, XM_005247208.2:c.4297del, XM_005247208.1:c.4297del, XM_017005871.2:c.4399del, XM_017005871.1:c.4399del, XM_017005872.2:c.4297del, XM_017005872.1:c.4297del, NP_001009899.3:p.Gln1467fs, XP_005247265.2:p.Gln1433fs, XP_016861360.1:p.Gln1467fs, XP_016861361.1:p.Gln1433fs

Select item 14908942922.

rs1490894292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:113658105 (GRCh38)
3:113376952 (GRCh37)
Canonical SPDI:: NC_000003.12:113658104:G:A
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113658105G>A, NC_000003.11:g.113376952G>A, NG_055006.1:g.43553C>T, NM_001009899.4:c.3577C>T, NM_001009899.3:c.3577C>T, NM_001009899.2:c.3577C>T, XM_005247208.5:c.3475C>T, XM_005247208.4:c.3475C>T, XM_005247208.3:c.3475C>T, XM_005247208.2:c.3475C>T, XM_005247208.1:c.3475C>T, XM_017005871.2:c.3577C>T, XM_017005871.1:c.3577C>T, XM_017005872.2:c.3475C>T, XM_017005872.1:c.3475C>T, NP_001009899.3:p.Pro1193Ser, XP_005247265.2:p.Pro1159Ser, XP_016861360.1:p.Pro1193Ser, XP_016861361.1:p.Pro1159Ser

Select item 14897663253.

rs1489766325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:113656335 (GRCh38)
3:113375182 (GRCh37)
Canonical SPDI:: NC_000003.12:113656334:G:A,NC_000003.12:113656334:G:T
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000003.12:g.113656335G>A, NC_000003.12:g.113656335G>T, NC_000003.11:g.113375182G>A, NC_000003.11:g.113375182G>T, NG_055006.1:g.45323C>T, NG_055006.1:g.45323C>A, NM_001009899.4:c.5347C>T, NM_001009899.4:c.5347C>A, NM_001009899.3:c.5347C>T, NM_001009899.3:c.5347C>A, NM_001009899.2:c.5347C>T, NM_001009899.2:c.5347C>A, XM_005247208.5:c.5245C>T, XM_005247208.5:c.5245C>A, XM_005247208.4:c.5245C>T, XM_005247208.4:c.5245C>A, XM_005247208.3:c.5245C>T, XM_005247208.3:c.5245C>A, XM_005247208.2:c.5245C>T, XM_005247208.2:c.5245C>A, XM_005247208.1:c.5245C>T, XM_005247208.1:c.5245C>A, XM_017005871.2:c.5347C>T, XM_017005871.2:c.5347C>A, XM_017005871.1:c.5347C>T, XM_017005871.1:c.5347C>A, XM_017005872.2:c.5245C>T, XM_017005872.2:c.5245C>A, XM_017005872.1:c.5245C>T, XM_017005872.1:c.5245C>A, NP_001009899.3:p.Pro1783Ser, NP_001009899.3:p.Pro1783Thr, XP_005247265.2:p.Pro1749Ser, XP_005247265.2:p.Pro1749Thr, XP_016861360.1:p.Pro1783Ser, XP_016861360.1:p.Pro1783Thr, XP_016861361.1:p.Pro1749Ser, XP_016861361.1:p.Pro1749Thr

Select item 14897580584.

rs1489758058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:113655788 (GRCh38)
3:113374635 (GRCh37)
Canonical SPDI:: NC_000003.12:113655787:G:A
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113655788G>A, NC_000003.11:g.113374635G>A, NG_055006.1:g.45870C>T, NM_001009899.4:c.5894C>T, NM_001009899.3:c.5894C>T, NM_001009899.2:c.5894C>T, XM_005247208.5:c.5792C>T, XM_005247208.4:c.5792C>T, XM_005247208.3:c.5792C>T, XM_005247208.2:c.5792C>T, XM_005247208.1:c.5792C>T, XM_017005871.2:c.5894C>T, XM_017005871.1:c.5894C>T, XM_017005872.2:c.5792C>T, XM_017005872.1:c.5792C>T, NP_001009899.3:p.Pro1965Leu, XP_005247265.2:p.Pro1931Leu, XP_016861360.1:p.Pro1965Leu, XP_016861361.1:p.Pro1931Leu

Select item 14895070105.

rs1489507010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:113659848 (GRCh38)
3:113378695 (GRCh37)
Canonical SPDI:: NC_000003.12:113659847:C:T
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.113659848C>T, NC_000003.11:g.113378695C>T, NG_055006.1:g.41810G>A, NM_001009899.4:c.1834G>A, NM_001009899.3:c.1834G>A, NM_001009899.2:c.1834G>A, XM_005247208.5:c.1732G>A, XM_005247208.4:c.1732G>A, XM_005247208.3:c.1732G>A, XM_005247208.2:c.1732G>A, XM_005247208.1:c.1732G>A, XM_017005871.2:c.1834G>A, XM_017005871.1:c.1834G>A, XM_017005872.2:c.1732G>A, XM_017005872.1:c.1732G>A, NP_001009899.3:p.Val612Ile, XP_005247265.2:p.Val578Ile, XP_016861360.1:p.Val612Ile, XP_016861361.1:p.Val578Ile

Select item 14872419726.

rs1487241972 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113655580 (GRCh38)
3:113374427 (GRCh37)
Canonical SPDI:: NC_000003.12:113655579:T:C
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000003.12:g.113655580T>C, NC_000003.11:g.113374427T>C, NG_055006.1:g.46078A>G, NM_001009899.4:c.6102A>G, NM_001009899.3:c.6102A>G, NM_001009899.2:c.6102A>G, XM_005247208.5:c.6000A>G, XM_005247208.4:c.6000A>G, XM_005247208.3:c.6000A>G, XM_005247208.2:c.6000A>G, XM_005247208.1:c.6000A>G, XM_017005871.2:c.6102A>G, XM_017005871.1:c.6102A>G, XM_017005872.2:c.6000A>G, XM_017005872.1:c.6000A>G

Select item 14857258647.

rs1485725864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:113656711 (GRCh38)
3:113375558 (GRCh37)
Canonical SPDI:: NC_000003.12:113656710:T:C,NC_000003.12:113656710:T:G
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.113656711T>C, NC_000003.12:g.113656711T>G, NC_000003.11:g.113375558T>C, NC_000003.11:g.113375558T>G, NG_055006.1:g.44947A>G, NG_055006.1:g.44947A>C, NM_001009899.4:c.4971A>G, NM_001009899.4:c.4971A>C, NM_001009899.3:c.4971A>G, NM_001009899.3:c.4971A>C, NM_001009899.2:c.4971A>G, NM_001009899.2:c.4971A>C, XM_005247208.5:c.4869A>G, XM_005247208.5:c.4869A>C, XM_005247208.4:c.4869A>G, XM_005247208.4:c.4869A>C, XM_005247208.3:c.4869A>G, XM_005247208.3:c.4869A>C, XM_005247208.2:c.4869A>G, XM_005247208.2:c.4869A>C, XM_005247208.1:c.4869A>G, XM_005247208.1:c.4869A>C, XM_017005871.2:c.4971A>G, XM_017005871.2:c.4971A>C, XM_017005871.1:c.4971A>G, XM_017005871.1:c.4971A>C, XM_017005872.2:c.4869A>G, XM_017005872.2:c.4869A>C, XM_017005872.1:c.4869A>G, XM_017005872.1:c.4869A>C

Select item 14854323608.

rs1485432360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113655175 (GRCh38)
3:113374022 (GRCh37)
Canonical SPDI:: NC_000003.12:113655174:A:G
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113655175A>G, NC_000003.11:g.113374022A>G, NG_055006.1:g.46483T>C, NM_001009899.4:c.6507T>C, NM_001009899.3:c.6507T>C, NM_001009899.2:c.6507T>C, XM_005247208.5:c.6405T>C, XM_005247208.4:c.6405T>C, XM_005247208.3:c.6405T>C, XM_005247208.2:c.6405T>C, XM_005247208.1:c.6405T>C, XM_017005871.2:c.6507T>C, XM_017005871.1:c.6507T>C, XM_017005872.2:c.6405T>C, XM_017005872.1:c.6405T>C

Select item 14837330349.

rs1483733034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113655554 (GRCh38)
3:113374401 (GRCh37)
Canonical SPDI:: NC_000003.12:113655553:T:C
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000003.12:g.113655554T>C, NC_000003.11:g.113374401T>C, NG_055006.1:g.46104A>G, NM_001009899.4:c.6128A>G, NM_001009899.3:c.6128A>G, NM_001009899.2:c.6128A>G, XM_005247208.5:c.6026A>G, XM_005247208.4:c.6026A>G, XM_005247208.3:c.6026A>G, XM_005247208.2:c.6026A>G, XM_005247208.1:c.6026A>G, XM_017005871.2:c.6128A>G, XM_017005871.1:c.6128A>G, XM_017005872.2:c.6026A>G, XM_017005872.1:c.6026A>G, NP_001009899.3:p.Asp2043Gly, XP_005247265.2:p.Asp2009Gly, XP_016861360.1:p.Asp2043Gly, XP_016861361.1:p.Asp2009Gly

Select item 148295200910.

rs1482952009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:113657322 (GRCh38)
3:113376169 (GRCh37)
Canonical SPDI:: NC_000003.12:113657321:G:A
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.113657322G>A, NC_000003.11:g.113376169G>A, NG_055006.1:g.44336C>T, NM_001009899.4:c.4360C>T, NM_001009899.3:c.4360C>T, NM_001009899.2:c.4360C>T, XM_005247208.5:c.4258C>T, XM_005247208.4:c.4258C>T, XM_005247208.3:c.4258C>T, XM_005247208.2:c.4258C>T, XM_005247208.1:c.4258C>T, XM_017005871.2:c.4360C>T, XM_017005871.1:c.4360C>T, XM_017005872.2:c.4258C>T, XM_017005872.1:c.4258C>T, NP_001009899.3:p.His1454Tyr, XP_005247265.2:p.His1420Tyr, XP_016861360.1:p.His1454Tyr, XP_016861361.1:p.His1420Tyr

Select item 148267613711.

rs1482676137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:113659444 (GRCh38)
3:113378291 (GRCh37)
Canonical SPDI:: NC_000003.12:113659443:A:C
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.113659444A>C, NC_000003.11:g.113378291A>C, NG_055006.1:g.42214T>G, NM_001009899.4:c.2238T>G, NM_001009899.3:c.2238T>G, NM_001009899.2:c.2238T>G, XM_005247208.5:c.2136T>G, XM_005247208.4:c.2136T>G, XM_005247208.3:c.2136T>G, XM_005247208.2:c.2136T>G, XM_005247208.1:c.2136T>G, XM_017005871.2:c.2238T>G, XM_017005871.1:c.2238T>G, XM_017005872.2:c.2136T>G, XM_017005872.1:c.2136T>G

Select item 148215588612.

rs1482155886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:113659164 (GRCh38)
3:113378011 (GRCh37)
Canonical SPDI:: NC_000003.12:113659163:G:C
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113659164G>C, NC_000003.11:g.113378011G>C, NG_055006.1:g.42494C>G, NM_001009899.4:c.2518C>G, NM_001009899.3:c.2518C>G, NM_001009899.2:c.2518C>G, XM_005247208.5:c.2416C>G, XM_005247208.4:c.2416C>G, XM_005247208.3:c.2416C>G, XM_005247208.2:c.2416C>G, XM_005247208.1:c.2416C>G, XM_017005871.2:c.2518C>G, XM_017005871.1:c.2518C>G, XM_017005872.2:c.2416C>G, XM_017005872.1:c.2416C>G, NP_001009899.3:p.Leu840Val, XP_005247265.2:p.Leu806Val, XP_016861360.1:p.Leu840Val, XP_016861361.1:p.Leu806Val

Select item 148203996713.

rs1482039967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:113655270 (GRCh38)
3:113374117 (GRCh37)
Canonical SPDI:: NC_000003.12:113655269:G:A,NC_000003.12:113655269:G:C
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000003.12:g.113655270G>A, NC_000003.12:g.113655270G>C, NC_000003.11:g.113374117G>A, NC_000003.11:g.113374117G>C, NG_055006.1:g.46388C>T, NG_055006.1:g.46388C>G, NM_001009899.4:c.6412C>T, NM_001009899.4:c.6412C>G, NM_001009899.3:c.6412C>T, NM_001009899.3:c.6412C>G, NM_001009899.2:c.6412C>T, NM_001009899.2:c.6412C>G, XM_005247208.5:c.6310C>T, XM_005247208.5:c.6310C>G, XM_005247208.4:c.6310C>T, XM_005247208.4:c.6310C>G, XM_005247208.3:c.6310C>T, XM_005247208.3:c.6310C>G, XM_005247208.2:c.6310C>T, XM_005247208.2:c.6310C>G, XM_005247208.1:c.6310C>T, XM_005247208.1:c.6310C>G, XM_017005871.2:c.6412C>T, XM_017005871.2:c.6412C>G, XM_017005871.1:c.6412C>T, XM_017005871.1:c.6412C>G, XM_017005872.2:c.6310C>T, XM_017005872.2:c.6310C>G, XM_017005872.1:c.6310C>T, XM_017005872.1:c.6310C>G, NP_001009899.3:p.Pro2138Ser, NP_001009899.3:p.Pro2138Ala, XP_005247265.2:p.Pro2104Ser, XP_005247265.2:p.Pro2104Ala, XP_016861360.1:p.Pro2138Ser, XP_016861360.1:p.Pro2138Ala, XP_016861361.1:p.Pro2104Ser, XP_016861361.1:p.Pro2104Ala

Select item 148180549114.

rs1481805491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113670146 (GRCh38)
3:113388993 (GRCh37)
Canonical SPDI:: NC_000003.12:113670145:A:G
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.113670146A>G, NC_000003.11:g.113388993A>G, NG_055006.1:g.31512T>C, NM_001009899.4:c.134T>C, NM_001009899.3:c.134T>C, NM_001009899.2:c.134T>C, NR_111981.2:n.541T>C, NR_111981.1:n.545T>C, XM_017005871.2:c.134T>C, XM_017005871.1:c.134T>C, NP_001009899.3:p.Ile45Thr, XP_016861360.1:p.Ile45Thr

Select item 148125272015.

rs1481252720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:113655648 (GRCh38)
3:113374495 (GRCh37)
Canonical SPDI:: NC_000003.12:113655647:G:A
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113655648G>A, NC_000003.11:g.113374495G>A, NG_055006.1:g.46010C>T, NM_001009899.4:c.6034C>T, NM_001009899.3:c.6034C>T, NM_001009899.2:c.6034C>T, XM_005247208.5:c.5932C>T, XM_005247208.4:c.5932C>T, XM_005247208.3:c.5932C>T, XM_005247208.2:c.5932C>T, XM_005247208.1:c.5932C>T, XM_017005871.2:c.6034C>T, XM_017005871.1:c.6034C>T, XM_017005872.2:c.5932C>T, XM_017005872.1:c.5932C>T, NP_001009899.3:p.Pro2012Ser, XP_005247265.2:p.Pro1978Ser, XP_016861360.1:p.Pro2012Ser, XP_016861361.1:p.Pro1978Ser

Select item 148101283216.

rs1481012832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113656313 (GRCh38)
3:113375160 (GRCh37)
Canonical SPDI:: NC_000003.12:113656312:T:C
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.113656313T>C, NC_000003.11:g.113375160T>C, NG_055006.1:g.45345A>G, NM_001009899.4:c.5369A>G, NM_001009899.3:c.5369A>G, NM_001009899.2:c.5369A>G, XM_005247208.5:c.5267A>G, XM_005247208.4:c.5267A>G, XM_005247208.3:c.5267A>G, XM_005247208.2:c.5267A>G, XM_005247208.1:c.5267A>G, XM_017005871.2:c.5369A>G, XM_017005871.1:c.5369A>G, XM_017005872.2:c.5267A>G, XM_017005872.1:c.5267A>G, NP_001009899.3:p.Lys1790Arg, XP_005247265.2:p.Lys1756Arg, XP_016861360.1:p.Lys1790Arg, XP_016861361.1:p.Lys1756Arg

Select item 148048314517.

rs1480483145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:113659294 (GRCh38)
3:113378141 (GRCh37)
Canonical SPDI:: NC_000003.12:113659293:A:G
Gene:: USF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.113659294A>G, NC_000003.11:g.113378141A>G, NG_055006.1:g.42364T>C, NM_001009899.4:c.2388T>C, NM_001009899.3:c.2388T>C, NM_001009899.2:c.2388T>C, XM_005247208.5:c.2286T>C, XM_005247208.4:c.2286T>C, XM_005247208.3:c.2286T>C, XM_005247208.2:c.2286T>C, XM_005247208.1:c.2286T>C, XM_017005871.2:c.2388T>C, XM_017005871.1:c.2388T>C, XM_017005872.2:c.2286T>C, XM_017005872.1:c.2286T>C

Select item 148032080418.

rs1480320804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:113660658 (GRCh38)
3:113379505 (GRCh37)
Canonical SPDI:: NC_000003.12:113660657:T:C
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.113660658T>C, NC_000003.11:g.113379505T>C, NG_055006.1:g.41000A>G, NM_001009899.4:c.1024A>G, NM_001009899.3:c.1024A>G, NM_001009899.2:c.1024A>G, XM_005247208.5:c.922A>G, XM_005247208.4:c.922A>G, XM_005247208.3:c.922A>G, XM_005247208.2:c.922A>G, XM_005247208.1:c.922A>G, XM_017005871.2:c.1024A>G, XM_017005871.1:c.1024A>G, XM_017005872.2:c.922A>G, XM_017005872.1:c.922A>G, NP_001009899.3:p.Thr342Ala, XP_005247265.2:p.Thr308Ala, XP_016861360.1:p.Thr342Ala, XP_016861361.1:p.Thr308Ala

Select item 147940761019.

rs1479407610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:113656527 (GRCh38)
3:113375374 (GRCh37)
Canonical SPDI:: NC_000003.12:113656526:C:T
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.113656527C>T, NC_000003.11:g.113375374C>T, NG_055006.1:g.45131G>A, NM_001009899.4:c.5155G>A, NM_001009899.3:c.5155G>A, NM_001009899.2:c.5155G>A, XM_005247208.5:c.5053G>A, XM_005247208.4:c.5053G>A, XM_005247208.3:c.5053G>A, XM_005247208.2:c.5053G>A, XM_005247208.1:c.5053G>A, XM_017005871.2:c.5155G>A, XM_017005871.1:c.5155G>A, XM_017005872.2:c.5053G>A, XM_017005872.1:c.5053G>A, NP_001009899.3:p.Gly1719Ser, XP_005247265.2:p.Gly1685Ser, XP_016861360.1:p.Gly1719Ser, XP_016861361.1:p.Gly1685Ser

Select item 147826593320.

rs1478265933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:113657606 (GRCh38)
3:113376453 (GRCh37)
Canonical SPDI:: NC_000003.12:113657605:A:C
Gene:: USF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.113657606A>C, NC_000003.11:g.113376453A>C, NG_055006.1:g.44052T>G, NM_001009899.4:c.4076T>G, NM_001009899.3:c.4076T>G, NM_001009899.2:c.4076T>G, XM_005247208.5:c.3974T>G, XM_005247208.4:c.3974T>G, XM_005247208.3:c.3974T>G, XM_005247208.2:c.3974T>G, XM_005247208.1:c.3974T>G, XM_017005871.2:c.4076T>G, XM_017005871.1:c.4076T>G, XM_017005872.2:c.3974T>G, XM_017005872.1:c.3974T>G, NP_001009899.3:p.Leu1359Arg, XP_005247265.2:p.Leu1325Arg, XP_016861360.1:p.Leu1359Arg, XP_016861361.1:p.Leu1325Arg

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