SNP Links for Protein (Select 325651836) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 553

<< First< Prev

Page of 28

Next >Last >>

Select item 14885202651.

rs1488520265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143525529 (GRCh38)
4:144446682 (GRCh37)
Canonical SPDI:: NC_000004.12:143525528:A:G
Gene:: SMARCA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143525529A>G, NC_000004.11:g.144446682A>G, NM_003601.4:c.599A>G, NM_003601.3:c.599A>G, XM_047416323.1:c.599A>G, NP_003592.3:p.Asn200Ser, XP_047272279.1:p.Asn200Ser

Select item 14855610062.

rs1485561006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:143517403 (GRCh38)
4:144438556 (GRCh37)
Canonical SPDI:: NC_000004.12:143517402:C:A
Gene:: SMARCA5 (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_000004.12:g.143517403C>A, NC_000004.11:g.144438556C>A, NM_003601.4:c.226C>A, NM_003601.3:c.226C>A, XM_047416323.1:c.226C>A, NP_003592.3:p.Pro76Thr, XP_047272279.1:p.Pro76Thr

Select item 14849287873.

rs1484928787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:143521520 (GRCh38)
4:144442673 (GRCh37)
Canonical SPDI:: NC_000004.12:143521519:C:T
Gene:: SMARCA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143521520C>T, NC_000004.11:g.144442673C>T, NM_003601.4:c.344C>T, NM_003601.3:c.344C>T, XM_047416323.1:c.344C>T, NP_003592.3:p.Thr115Ile, XP_047272279.1:p.Thr115Ile

Select item 14829654424.

rs1482965442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:143513946 (GRCh38)
4:144435099 (GRCh37)
Canonical SPDI:: NC_000004.12:143513945:C:G
Gene:: SMARCA5 (Varview), SMARCA5-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.143513946C>G, NC_000004.11:g.144435099C>G, NM_003601.4:c.22C>G, NM_003601.3:c.22C>G, XM_047416323.1:c.22C>G, NR_104027.1:n.673G>C, NP_003592.3:p.Pro8Ala, XP_047272279.1:p.Pro8Ala

Select item 14811212795.

rs1481121279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143547484 (GRCh38)
4:144468637 (GRCh37)
Canonical SPDI:: NC_000004.12:143547483:A:G
Gene:: SMARCA5 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143547484A>G, NC_000004.11:g.144468637A>G, NM_003601.4:c.2753A>G, NM_003601.3:c.2753A>G, NP_003592.3:p.Lys918Arg

Select item 14794244626.

rs1479424462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143521503 (GRCh38)
4:144442656 (GRCh37)
Canonical SPDI:: NC_000004.12:143521502:T:C
Gene:: SMARCA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.143521503T>C, NC_000004.11:g.144442656T>C, NM_003601.4:c.327T>C, NM_003601.3:c.327T>C, XM_047416323.1:c.327T>C

Select item 14785521727.

rs1478552172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:143536645 (GRCh38)
4:144457798 (GRCh37)
Canonical SPDI:: NC_000004.12:143536644:T:G
Gene:: SMARCA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143536645T>G, NC_000004.11:g.144457798T>G, NM_003601.4:c.1462T>G, NM_003601.3:c.1462T>G, XM_047416323.1:c.1462T>G, NP_003592.3:p.Leu488Val, XP_047272279.1:p.Leu488Val

Select item 14747615348.

rs1474761534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143525454 (GRCh38)
4:144446607 (GRCh37)
Canonical SPDI:: NC_000004.12:143525453:T:C
Gene:: SMARCA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.143525454T>C, NC_000004.11:g.144446607T>C, NM_003601.4:c.524T>C, NM_003601.3:c.524T>C, XM_047416323.1:c.524T>C, NP_003592.3:p.Val175Ala, XP_047272279.1:p.Val175Ala

Select item 14742981099.

rs1474298109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:143545502 (GRCh38)
4:144466655 (GRCh37)
Canonical SPDI:: NC_000004.12:143545501:G:A
Gene:: SMARCA5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.143545502G>A, NC_000004.11:g.144466655G>A, NM_003601.4:c.2316G>A, NM_003601.3:c.2316G>A

Select item 147311594610.

rs1473115946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:143548138 (GRCh38)
4:144469291 (GRCh37)
Canonical SPDI:: NC_000004.12:143548137:A:G,NC_000004.12:143548137:A:T
Gene:: SMARCA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00006/1 (TOMMO)
HGVS:: NC_000004.12:g.143548138A>G, NC_000004.12:g.143548138A>T, NC_000004.11:g.144469291A>G, NC_000004.11:g.144469291A>T, NM_003601.4:c.2983A>G, NM_003601.4:c.2983A>T, NM_003601.3:c.2983A>G, NM_003601.3:c.2983A>T, NP_003592.3:p.Met995Val, NP_003592.3:p.Met995Leu

Select item 146881720211.

rs1468817202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:143514057 (GRCh38)
4:144435210 (GRCh37)
Canonical SPDI:: NC_000004.12:143514056:G:T
Gene:: SMARCA5 (Varview), SMARCA5-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.143514057G>T, NC_000004.11:g.144435210G>T, NM_003601.4:c.133G>T, NM_003601.3:c.133G>T, XM_047416323.1:c.133G>T, NR_104027.1:n.562C>A, NP_003592.3:p.Val45Phe, XP_047272279.1:p.Val45Phe

Select item 146602231412.

rs1466022314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143524451 (GRCh38)
4:144445604 (GRCh37)
Canonical SPDI:: NC_000004.12:143524450:T:C
Gene:: SMARCA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143524451T>C, NC_000004.11:g.144445604T>C, NM_003601.4:c.504T>C, NM_003601.3:c.504T>C, XM_047416323.1:c.504T>C

Select item 146290257013.

rs1462902570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:143514055 (GRCh38)
4:144435208 (GRCh37)
Canonical SPDI:: NC_000004.12:143514054:C:A
Gene:: SMARCA5 (Varview), SMARCA5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143514055C>A, NC_000004.11:g.144435208C>A, NM_003601.4:c.131C>A, NM_003601.3:c.131C>A, XM_047416323.1:c.131C>A, NR_104027.1:n.564G>T, NP_003592.3:p.Ala44Glu, XP_047272279.1:p.Ala44Glu

Select item 146270809314.

rs1462708093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143543626 (GRCh38)
4:144464779 (GRCh37)
Canonical SPDI:: NC_000004.12:143543625:T:C
Gene:: SMARCA5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143543626T>C, NC_000004.11:g.144464779T>C, NM_003601.4:c.2021T>C, NM_003601.3:c.2021T>C, NP_003592.3:p.Ile674Thr

Select item 146172440015.

rs1461724400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:143545547 (GRCh38)
4:144466700 (GRCh37)
Canonical SPDI:: NC_000004.12:143545546:A:G
Gene:: SMARCA5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.143545547A>G, NC_000004.11:g.144466700A>G, NM_003601.4:c.2361A>G, NM_003601.3:c.2361A>G

Select item 145756719116.

rs1457567191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:143544739 (GRCh38)
4:144465892 (GRCh37)
Canonical SPDI:: NC_000004.12:143544738:T:G
Gene:: SMARCA5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00006/2 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.143544739T>G, NC_000004.11:g.144465892T>G, NM_003601.4:c.2175T>G, NM_003601.3:c.2175T>G, NP_003592.3:p.Ile725Met

Select item 145655894317.

rs1456558943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:143543861 (GRCh38)
4:144465014 (GRCh37)
Canonical SPDI:: NC_000004.12:143543860:G:A
Gene:: SMARCA5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143543861G>A, NC_000004.11:g.144465014G>A, NM_003601.4:c.2061G>A, NM_003601.3:c.2061G>A

Select item 145609353818.

rs1456093538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143540452 (GRCh38)
4:144461605 (GRCh37)
Canonical SPDI:: NC_000004.12:143540451:T:C
Gene:: SMARCA5 (Varview)
Functional Consequence:: intron_variant,synonymous_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_000004.12:g.143540452T>C, NC_000004.11:g.144461605T>C, NM_003601.4:c.1860T>C, NM_003601.3:c.1860T>C

Select item 145437757419.

rs1454377574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:143546841 (GRCh38)
4:144467994 (GRCh37)
Canonical SPDI:: NC_000004.12:143546840:T:C
Gene:: SMARCA5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.143546841T>C, NC_000004.11:g.144467994T>C, NM_003601.4:c.2586T>C, NM_003601.3:c.2586T>C

Select item 145379043820.

rs1453790438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:143540408 (GRCh38)
4:144461561 (GRCh37)
Canonical SPDI:: NC_000004.12:143540407:C:A,NC_000004.12:143540407:C:T
Gene:: SMARCA5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.143540408C>A, NC_000004.12:g.143540408C>T, NC_000004.11:g.144461561C>A, NC_000004.11:g.144461561C>T, NM_003601.4:c.1816C>A, NM_003601.4:c.1816C>T, NM_003601.3:c.1816C>A, NM_003601.3:c.1816C>T, NP_003592.3:p.Arg606Ser, NP_003592.3:p.Arg606Cys

<< First< Prev

Page of 28

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 325651836) (553)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: