SNP Links for Protein (Select 188536047) - SNP

Links from Protein

Items: 1 to 20 of 936

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Select item 14902394231.

rs1490239423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47781729 (GRCh38)
3:47823219 (GRCh37)
Canonical SPDI:: NC_000003.12:47781728:C:T
Gene:: SMARCC1 (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=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47781729C>T, NC_000003.11:g.47823219C>T, NM_003074.4:c.69G>A, NM_003074.3:c.69G>A

Select item 14901889272.

rs1490188927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47588221 (GRCh38)
3:47629711 (GRCh37)
Canonical SPDI:: NC_000003.12:47588220:T:C
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47588221T>C, NC_000003.11:g.47629711T>C, NM_003074.4:c.3306A>G, NM_003074.3:c.3306A>G

Select item 14901203183.

rs1490120318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:47588232 (GRCh38)
3:47629722 (GRCh37)
Canonical SPDI:: NC_000003.12:47588231:G:C
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.47588232G>C, NC_000003.11:g.47629722G>C, NM_003074.4:c.3295C>G, NM_003074.3:c.3295C>G, NP_003065.3:p.Pro1099Ala

Select item 14891300644.

rs1489130064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47635229 (GRCh38)
3:47676719 (GRCh37)
Canonical SPDI:: NC_000003.12:47635228:G:A
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.47635229G>A, NC_000003.11:g.47676719G>A, NM_003074.4:c.2607C>T, NM_003074.3:c.2607C>T

Select item 14888048765.

rs1488804876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:47610243 (GRCh38)
3:47651733 (GRCh37)
Canonical SPDI:: NC_000003.12:47610242:G:C
Gene:: SMARCC1 (Varview), LOC124906234 (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.47610243G>C, NC_000003.11:g.47651733G>C, NM_003074.4:c.2866C>G, NM_003074.3:c.2866C>G, NP_003065.3:p.Gln956Glu

Select item 14872742086.

rs1487274208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47635241 (GRCh38)
3:47676731 (GRCh37)
Canonical SPDI:: NC_000003.12:47635240:A:G
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47635241A>G, NC_000003.11:g.47676731A>G, NM_003074.4:c.2595T>C, NM_003074.3:c.2595T>C

Select item 14856009017.

rs1485600901 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAGG [Show Flanks]
Chromosome:: 3:47706447 (GRCh38)
3:47747938 (GRCh37)
Canonical SPDI:: NC_000003.12:47706447:GGAGGGGGAGG:GGAGGGGGAGGGGGAGG
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: GGAGGGGGAGGGGGAGG=0./0 (ALFA)
HGVS:: NC_000003.12:g.47706453_47706458dup, NC_000003.11:g.47747943_47747948dup, NM_003074.4:c.996_1001dup, NM_003074.3:c.996_1001dup, NP_003065.3:p.Pro333_Pro334dup

Select item 14818496028.

rs1481849602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47680442 (GRCh38)
3:47721932 (GRCh37)
Canonical SPDI:: NC_000003.12:47680441:T:C
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47680442T>C, NC_000003.11:g.47721932T>C, NM_003074.4:c.1452A>G, NM_003074.3:c.1452A>G

Select item 14817511289.

rs1481751128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:47706430 (GRCh38)
3:47747920 (GRCh37)
Canonical SPDI:: NC_000003.12:47706429:C:A,NC_000003.12:47706429:C:T
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.47706430C>A, NC_000003.12:g.47706430C>T, NC_000003.11:g.47747920C>A, NC_000003.11:g.47747920C>T, NM_003074.4:c.1019G>T, NM_003074.4:c.1019G>A, NM_003074.3:c.1019G>T, NM_003074.3:c.1019G>A, NP_003065.3:p.Arg340Leu, NP_003065.3:p.Arg340Gln

Select item 148060691610.

rs1480606916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:47686137 (GRCh38)
3:47727627 (GRCh37)
Canonical SPDI:: NC_000003.12:47686136:G:C,NC_000003.12:47686136:G:T
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.47686137G>C, NC_000003.12:g.47686137G>T, NC_000003.11:g.47727627G>C, NC_000003.11:g.47727627G>T, NM_003074.4:c.1297C>G, NM_003074.4:c.1297C>A, NM_003074.3:c.1297C>G, NM_003074.3:c.1297C>A, NP_003065.3:p.Arg433Gly

Select item 148021335611.

rs1480213356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:47662584 (GRCh38)
3:47704074 (GRCh37)
Canonical SPDI:: NC_000003.12:47662583:C:A
Gene:: SMARCC1 (Varview), SNORD146 (Varview), HIGD2AP2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47662584C>A, NC_000003.11:g.47704074C>A, NM_003074.4:c.1908G>T, NM_003074.3:c.1908G>T, NP_003065.3:p.Glu636Asp

Select item 147935096612.

rs1479350966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47701296 (GRCh38)
3:47742786 (GRCh37)
Canonical SPDI:: NC_000003.12:47701295:C:T
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000003.12:g.47701296C>T, NC_000003.11:g.47742786C>T, NM_003074.4:c.1147G>A, NM_003074.3:c.1147G>A, NP_003065.3:p.Val383Ile

Select item 147906965513.

rs1479069655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:47622334 (GRCh38)
3:47663824 (GRCh37)
Canonical SPDI:: NC_000003.12:47622333:G:T
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_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)
HGVS:: NC_000003.12:g.47622334G>T, NC_000003.11:g.47663824G>T, NM_003074.4:c.2654C>A, NM_003074.3:c.2654C>A, NP_003065.3:p.Ala885Asp

Select item 147895741414.

rs1478957414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:47706511 (GRCh38)
3:47748001 (GRCh37)
Canonical SPDI:: NC_000003.12:47706510:C:A
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.47706511C>A, NC_000003.11:g.47748001C>A, NM_003074.4:c.938G>T, NM_003074.3:c.938G>T, NP_003065.3:p.Arg313Ile

Select item 147650942415.

rs1476509424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47638746 (GRCh38)
3:47680236 (GRCh37)
Canonical SPDI:: NC_000003.12:47638745:A:G
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47638746A>G, NC_000003.11:g.47680236A>G, NM_003074.4:c.2355T>C, NM_003074.3:c.2355T>C

Select item 147619520716.

rs1476195207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:47676704 (GRCh38)
3:47718194 (GRCh37)
Canonical SPDI:: NC_000003.12:47676703:A:C
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.47676704A>C, NC_000003.11:g.47718194A>C, NM_003074.4:c.1650T>G, NM_003074.3:c.1650T>G

Select item 147584282417.

rs1475842824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47736054 (GRCh38)
3:47777544 (GRCh37)
Canonical SPDI:: NC_000003.12:47736053:C:T
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.47736054C>T, NC_000003.11:g.47777544C>T, NM_003074.4:c.556G>A, NM_003074.3:c.556G>A, NP_003065.3:p.Asp186Asn

Select item 147555136718.

rs1475551367 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 3:47686070 (GRCh38)
3:47727561 (GRCh37)
Canonical SPDI:: NC_000003.12:47686070:CATA:CATACATA
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: CATA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.47686071_47686074dup, NC_000003.11:g.47727561_47727564dup, NM_003074.4:c.1360_1363dup, NM_003074.3:c.1360_1363dup, NP_003065.3:p.Ala455fs

Select item 147513667219.

rs1475136672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47636087 (GRCh38)
3:47677577 (GRCh37)
Canonical SPDI:: NC_000003.12:47636086:T:C
Gene:: SMARCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.47636087T>C, NC_000003.11:g.47677577T>C, NM_003074.4:c.2426A>G, NM_003074.3:c.2426A>G, NP_003065.3:p.Asp809Gly

Select item 147444398920.

rs1474443989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47736097 (GRCh38)
3:47777587 (GRCh37)
Canonical SPDI:: NC_000003.12:47736096:G:A
Gene:: SMARCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.47736097G>A, NC_000003.11:g.47777587G>A, NM_003074.4:c.513C>T, NM_003074.3:c.513C>T

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