SNP Links for Protein (Select 526479826) - SNP

Links from Protein

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Select item 14841983921.

rs1484198392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:34614749 (GRCh38)
9:34614746 (GRCh37)
Canonical SPDI:: NC_000009.12:34614748:G:C
Gene:: DCTN3 (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=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.34614749G>C, NC_000009.11:g.34614746G>C, NM_007234.5:c.372C>G, NM_007234.4:c.372C>G, NM_024348.4:c.372C>G, NM_024348.3:c.372C>G, NM_001281426.2:c.372C>G, NM_001281426.1:c.372C>G, NM_001281427.2:c.372C>G, NM_001281427.1:c.372C>G, NM_001281425.2:c.288C>G, NM_001281425.1:c.288C>G

Select item 14841265482.

rs1484126548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:34618750 (GRCh38)
9:34618747 (GRCh37)
Canonical SPDI:: NC_000009.12:34618749:C:A
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34618750C>A, NC_000009.11:g.34618747C>A, NM_007234.5:c.107G>T, NM_007234.4:c.107G>T, NM_024348.4:c.107G>T, NM_024348.3:c.107G>T, NM_001281426.2:c.107G>T, NM_001281426.1:c.107G>T, NM_001281427.2:c.107G>T, NM_001281427.1:c.107G>T, NM_001281425.2:c.107G>T, NM_001281425.1:c.107G>T, NP_009165.1:p.Gly36Val, NP_077324.1:p.Gly36Val, NP_001268355.1:p.Gly36Val, NP_001268356.1:p.Gly36Val, NP_001268354.1:p.Gly36Val

Select item 14747787013.

rs1474778701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34620449 (GRCh38)
9:34620446 (GRCh37)
Canonical SPDI:: NC_000009.12:34620448:C:T
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34620449C>T, NC_000009.11:g.34620446C>T, NM_007234.5:c.16G>A, NM_007234.4:c.16G>A, NM_024348.4:c.16G>A, NM_024348.3:c.16G>A, NM_001281426.2:c.16G>A, NM_001281426.1:c.16G>A, NM_001281427.2:c.16G>A, NM_001281427.1:c.16G>A, NM_001281425.2:c.16G>A, NM_001281425.1:c.16G>A, NP_009165.1:p.Asp6Asn, NP_077324.1:p.Asp6Asn, NP_001268355.1:p.Asp6Asn, NP_001268356.1:p.Asp6Asn, NP_001268354.1:p.Asp6Asn

Select item 14737941414.

rs1473794141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:34618683 (GRCh38)
9:34618680 (GRCh37)
Canonical SPDI:: NC_000009.12:34618682:G:A,NC_000009.12:34618682:G:C
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
HGVS:: NC_000009.12:g.34618683G>A, NC_000009.12:g.34618683G>C, NC_000009.11:g.34618680G>A, NC_000009.11:g.34618680G>C, NM_007234.5:c.174C>T, NM_007234.5:c.174C>G, NM_007234.4:c.174C>T, NM_007234.4:c.174C>G, NM_024348.4:c.174C>T, NM_024348.4:c.174C>G, NM_024348.3:c.174C>T, NM_024348.3:c.174C>G, NM_001281426.2:c.174C>T, NM_001281426.2:c.174C>G, NM_001281426.1:c.174C>T, NM_001281426.1:c.174C>G, NM_001281427.2:c.174C>T, NM_001281427.2:c.174C>G, NM_001281427.1:c.174C>T, NM_001281427.1:c.174C>G, NM_001281425.2:c.174C>T, NM_001281425.2:c.174C>G, NM_001281425.1:c.174C>T, NM_001281425.1:c.174C>G, NP_009165.1:p.Tyr58Ter, NP_077324.1:p.Tyr58Ter, NP_001268355.1:p.Tyr58Ter, NP_001268356.1:p.Tyr58Ter, NP_001268354.1:p.Tyr58Ter

Select item 14723010645.

rs1472301064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34613829 (GRCh38)
9:34613826 (GRCh37)
Canonical SPDI:: NC_000009.12:34613828:G:A
Gene:: DCTN3 (Varview), RPP25L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34613829G>A, NC_000009.11:g.34613826G>A, NM_007234.5:c.514C>T, NM_007234.4:c.514C>T, NM_024348.4:c.*80C>T, NM_024348.3:c.*80C>T, NM_001281426.2:c.*80C>T, NM_001281426.1:c.*80C>T, NM_001281427.2:c.484C>T, NM_001281427.1:c.484C>T, NM_001281425.2:c.430C>T, NM_001281425.1:c.430C>T, NP_009165.1:p.Leu172Phe, NP_001268356.1:p.Leu162Phe, NP_001268354.1:p.Leu144Phe

Select item 14685265116.

rs1468526511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:34620460 (GRCh38)
9:34620457 (GRCh37)
Canonical SPDI:: NC_000009.12:34620459:G:A,NC_000009.12:34620459:G:T
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
A=0.000071/2 (TOMMO)
HGVS:: NC_000009.12:g.34620460G>A, NC_000009.12:g.34620460G>T, NC_000009.11:g.34620457G>A, NC_000009.11:g.34620457G>T, NM_007234.5:c.5C>T, NM_007234.5:c.5C>A, NM_007234.4:c.5C>T, NM_007234.4:c.5C>A, NM_024348.4:c.5C>T, NM_024348.4:c.5C>A, NM_024348.3:c.5C>T, NM_024348.3:c.5C>A, NM_001281426.2:c.5C>T, NM_001281426.2:c.5C>A, NM_001281426.1:c.5C>T, NM_001281426.1:c.5C>A, NM_001281427.2:c.5C>T, NM_001281427.2:c.5C>A, NM_001281427.1:c.5C>T, NM_001281427.1:c.5C>A, NM_001281425.2:c.5C>T, NM_001281425.2:c.5C>A, NM_001281425.1:c.5C>T, NM_001281425.1:c.5C>A, NP_009165.1:p.Ala2Val, NP_009165.1:p.Ala2Glu, NP_077324.1:p.Ala2Val, NP_077324.1:p.Ala2Glu, NP_001268355.1:p.Ala2Val, NP_001268355.1:p.Ala2Glu, NP_001268356.1:p.Ala2Val, NP_001268356.1:p.Ala2Glu, NP_001268354.1:p.Ala2Val, NP_001268354.1:p.Ala2Glu

Select item 14685207557.

rs1468520755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:34620457 (GRCh38)
9:34620454 (GRCh37)
Canonical SPDI:: NC_000009.12:34620456:C:A
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34620457C>A, NC_000009.11:g.34620454C>A, NM_007234.5:c.8G>T, NM_007234.4:c.8G>T, NM_024348.4:c.8G>T, NM_024348.3:c.8G>T, NM_001281426.2:c.8G>T, NM_001281426.1:c.8G>T, NM_001281427.2:c.8G>T, NM_001281427.1:c.8G>T, NM_001281425.2:c.8G>T, NM_001281425.1:c.8G>T, NP_009165.1:p.Gly3Val, NP_077324.1:p.Gly3Val, NP_001268355.1:p.Gly3Val, NP_001268356.1:p.Gly3Val, NP_001268354.1:p.Gly3Val

Select item 14638813008.

rs1463881300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:34616080 (GRCh38)
9:34616077 (GRCh37)
Canonical SPDI:: NC_000009.12:34616079:A:T
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34616080A>T, NC_000009.11:g.34616077A>T, NM_007234.5:c.302T>A, NM_007234.4:c.302T>A, NM_024348.4:c.302T>A, NM_024348.3:c.302T>A, NM_001281426.2:c.302T>A, NM_001281426.1:c.302T>A, NM_001281427.2:c.302T>A, NM_001281427.1:c.302T>A, NP_009165.1:p.Leu101Gln, NP_077324.1:p.Leu101Gln, NP_001268355.1:p.Leu101Gln, NP_001268356.1:p.Leu101Gln

Select item 14629946179.

rs1462994617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34613809 (GRCh38)
9:34613806 (GRCh37)
Canonical SPDI:: NC_000009.12:34613808:G:A
Gene:: DCTN3 (Varview), RPP25L (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34613809G>A, NC_000009.11:g.34613806G>A, NM_007234.5:c.534C>T, NM_007234.4:c.534C>T, NM_024348.4:c.*100C>T, NM_024348.3:c.*100C>T, NM_001281426.2:c.*100C>T, NM_001281426.1:c.*100C>T, NM_001281427.2:c.504C>T, NM_001281427.1:c.504C>T, NM_001281425.2:c.450C>T, NM_001281425.1:c.450C>T

Select item 146166202410.

rs1461662024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34617886 (GRCh38)
9:34617883 (GRCh37)
Canonical SPDI:: NC_000009.12:34617885:T:C
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34617886T>C, NC_000009.11:g.34617883T>C, NM_007234.5:c.267A>G, NM_007234.4:c.267A>G, NM_024348.4:c.267A>G, NM_024348.3:c.267A>G, NM_001281426.2:c.267A>G, NM_001281426.1:c.267A>G, NM_001281427.2:c.267A>G, NM_001281427.1:c.267A>G, NM_001281425.2:c.267A>G, NM_001281425.1:c.267A>G

Select item 145137043111.

rs1451370431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34616067 (GRCh38)
9:34616064 (GRCh37)
Canonical SPDI:: NC_000009.12:34616066:A:G
Gene:: DCTN3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34616067A>G, NC_000009.11:g.34616064A>G, NM_007234.5:c.315T>C, NM_007234.4:c.315T>C, NM_024348.4:c.315T>C, NM_024348.3:c.315T>C, NM_001281426.2:c.315T>C, NM_001281426.1:c.315T>C, NM_001281427.2:c.315T>C, NM_001281427.1:c.315T>C

Select item 145111192312.

rs1451111923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:34618677 (GRCh38)
9:34618674 (GRCh37)
Canonical SPDI:: NC_000009.12:34618676:C:A,NC_000009.12:34618676:C:T
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.34618677C>A, NC_000009.12:g.34618677C>T, NC_000009.11:g.34618674C>A, NC_000009.11:g.34618674C>T, NM_007234.5:c.180G>T, NM_007234.5:c.180G>A, NM_007234.4:c.180G>T, NM_007234.4:c.180G>A, NM_024348.4:c.180G>T, NM_024348.4:c.180G>A, NM_024348.3:c.180G>T, NM_024348.3:c.180G>A, NM_001281426.2:c.180G>T, NM_001281426.2:c.180G>A, NM_001281426.1:c.180G>T, NM_001281426.1:c.180G>A, NM_001281427.2:c.180G>T, NM_001281427.2:c.180G>A, NM_001281427.1:c.180G>T, NM_001281427.1:c.180G>A, NM_001281425.2:c.180G>T, NM_001281425.2:c.180G>A, NM_001281425.1:c.180G>T, NM_001281425.1:c.180G>A, NP_009165.1:p.Lys60Asn, NP_077324.1:p.Lys60Asn, NP_001268355.1:p.Lys60Asn, NP_001268356.1:p.Lys60Asn, NP_001268354.1:p.Lys60Asn

Select item 144824632213.

rs1448246322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34620394 (GRCh38)
9:34620391 (GRCh37)
Canonical SPDI:: NC_000009.12:34620393:G:A
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
A=0.000212/4 (TOMMO)
A=0.001027/3 (KOREAN)
HGVS:: NC_000009.12:g.34620394G>A, NC_000009.11:g.34620391G>A, NM_007234.5:c.71C>T, NM_007234.4:c.71C>T, NM_024348.4:c.71C>T, NM_024348.3:c.71C>T, NM_001281426.2:c.71C>T, NM_001281426.1:c.71C>T, NM_001281427.2:c.71C>T, NM_001281427.1:c.71C>T, NM_001281425.2:c.71C>T, NM_001281425.1:c.71C>T, NP_009165.1:p.Pro24Leu, NP_077324.1:p.Pro24Leu, NP_001268355.1:p.Pro24Leu, NP_001268356.1:p.Pro24Leu, NP_001268354.1:p.Pro24Leu

Select item 144008034514.

rs1440080345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:34620369 (GRCh38)
9:34620366 (GRCh37)
Canonical SPDI:: NC_000009.12:34620368:C:A,NC_000009.12:34620368:C:G
Gene:: DCTN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34620369C>A, NC_000009.12:g.34620369C>G, NC_000009.11:g.34620366C>A, NC_000009.11:g.34620366C>G, NM_007234.5:c.96G>T, NM_007234.5:c.96G>C, NM_007234.4:c.96G>T, NM_007234.4:c.96G>C, NM_024348.4:c.96G>T, NM_024348.4:c.96G>C, NM_024348.3:c.96G>T, NM_024348.3:c.96G>C, NM_001281426.2:c.96G>T, NM_001281426.2:c.96G>C, NM_001281426.1:c.96G>T, NM_001281426.1:c.96G>C, NM_001281427.2:c.96G>T, NM_001281427.2:c.96G>C, NM_001281427.1:c.96G>T, NM_001281427.1:c.96G>C, NM_001281425.2:c.96G>T, NM_001281425.2:c.96G>C, NM_001281425.1:c.96G>T, NM_001281425.1:c.96G>C, NP_009165.1:p.Lys32Asn, NP_009165.1:p.Lys32Asn, NP_077324.1:p.Lys32Asn, NP_077324.1:p.Lys32Asn, NP_001268355.1:p.Lys32Asn, NP_001268355.1:p.Lys32Asn, NP_001268356.1:p.Lys32Asn, NP_001268356.1:p.Lys32Asn, NP_001268354.1:p.Lys32Asn, NP_001268354.1:p.Lys32Asn

Select item 142866983815.

rs1428669838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34620378 (GRCh38)
9:34620375 (GRCh37)
Canonical SPDI:: NC_000009.12:34620377:G:A
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.34620378G>A, NC_000009.11:g.34620375G>A, NM_007234.5:c.87C>T, NM_007234.4:c.87C>T, NM_024348.4:c.87C>T, NM_024348.3:c.87C>T, NM_001281426.2:c.87C>T, NM_001281426.1:c.87C>T, NM_001281427.2:c.87C>T, NM_001281427.1:c.87C>T, NM_001281425.2:c.87C>T, NM_001281425.1:c.87C>T

Select item 141433960716.

rs1414339607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34614762 (GRCh38)
9:34614759 (GRCh37)
Canonical SPDI:: NC_000009.12:34614761:G:A
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34614762G>A, NC_000009.11:g.34614759G>A, NM_007234.5:c.359C>T, NM_007234.4:c.359C>T, NM_024348.4:c.359C>T, NM_024348.3:c.359C>T, NM_001281426.2:c.359C>T, NM_001281426.1:c.359C>T, NM_001281427.2:c.359C>T, NM_001281427.1:c.359C>T, NM_001281425.2:c.275C>T, NM_001281425.1:c.275C>T, NP_009165.1:p.Pro120Leu, NP_077324.1:p.Pro120Leu, NP_001268355.1:p.Pro120Leu, NP_001268356.1:p.Pro120Leu, NP_001268354.1:p.Pro92Leu

Select item 141143117417.

rs1411431174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:34618710 (GRCh38)
9:34618707 (GRCh37)
Canonical SPDI:: NC_000009.12:34618709:G:T
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34618710G>T, NC_000009.11:g.34618707G>T, NM_007234.5:c.147C>A, NM_007234.4:c.147C>A, NM_024348.4:c.147C>A, NM_024348.3:c.147C>A, NM_001281426.2:c.147C>A, NM_001281426.1:c.147C>A, NM_001281427.2:c.147C>A, NM_001281427.1:c.147C>A, NM_001281425.2:c.147C>A, NM_001281425.1:c.147C>A, NP_009165.1:p.Ser49Arg, NP_077324.1:p.Ser49Arg, NP_001268355.1:p.Ser49Arg, NP_001268356.1:p.Ser49Arg, NP_001268354.1:p.Ser49Arg

Select item 141125816718.

rs1411258167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34614727 (GRCh38)
9:34614724 (GRCh37)
Canonical SPDI:: NC_000009.12:34614726:T:C
Gene:: DCTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34614727T>C, NC_000009.11:g.34614724T>C, NM_007234.5:c.394A>G, NM_007234.4:c.394A>G, NM_024348.4:c.394A>G, NM_024348.3:c.394A>G, NM_001281426.2:c.394A>G, NM_001281426.1:c.394A>G, NM_001281427.2:c.394A>G, NM_001281427.1:c.394A>G, NM_001281425.2:c.310A>G, NM_001281425.1:c.310A>G, NP_009165.1:p.Ile132Val, NP_077324.1:p.Ile132Val, NP_001268355.1:p.Ile132Val, NP_001268356.1:p.Ile132Val, NP_001268354.1:p.Ile104Val

Select item 141112402219.

rs1411124022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:34616095 (GRCh38)
9:34616092 (GRCh37)
Canonical SPDI:: NC_000009.12:34616094:G:C
Gene:: DCTN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34616095G>C, NC_000009.11:g.34616092G>C, NM_007234.5:c.287C>G, NM_007234.4:c.287C>G, NM_024348.4:c.287C>G, NM_024348.3:c.287C>G, NM_001281426.2:c.287C>G, NM_001281426.1:c.287C>G, NM_001281427.2:c.287C>G, NM_001281427.1:c.287C>G, NP_009165.1:p.Ser96Cys, NP_077324.1:p.Ser96Cys, NP_001268355.1:p.Ser96Cys, NP_001268356.1:p.Ser96Cys

Select item 140791136220.

rs1407911362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34618686 (GRCh38)
9:34618683 (GRCh37)
Canonical SPDI:: NC_000009.12:34618685:G:A
Gene:: DCTN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34618686G>A, NC_000009.11:g.34618683G>A, NM_007234.5:c.171C>T, NM_007234.4:c.171C>T, NM_024348.4:c.171C>T, NM_024348.3:c.171C>T, NM_001281426.2:c.171C>T, NM_001281426.1:c.171C>T, NM_001281427.2:c.171C>T, NM_001281427.1:c.171C>T, NM_001281425.2:c.171C>T, NM_001281425.1:c.171C>T

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