SNP Links for Protein (Select 578830008) - SNP

Links from Protein

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Select item 14826993391.

rs1482699339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2317906 (GRCh38)
17:2221200 (GRCh37)
Canonical SPDI:: NC_000017.11:2317905:C:T
Gene:: SRR (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2317906C>T, NC_000017.10:g.2221200C>T, XM_011523974.4:c.205C>T, XM_011523974.3:c.205C>T, XM_011523974.2:c.205C>T, XM_011523974.1:c.205C>T, XM_006721565.4:c.205C>T, XM_006721565.3:c.205C>T, XM_006721565.2:c.205C>T, XM_006721565.1:c.205C>T, XM_006721566.4:c.205C>T, XM_006721566.3:c.205C>T, XM_006721566.2:c.205C>T, XM_006721566.1:c.205C>T, NM_021947.3:c.205C>T, NM_021947.2:c.205C>T, NM_021947.1:c.205C>T, NM_001304803.1:c.-243C>T, XP_011522276.1:p.Pro69Ser, XP_006721628.1:p.Pro69Ser, XP_006721629.1:p.Pro69Ser, NP_068766.1:p.Pro69Ser

Select item 14809674342.

rs1480967434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:2315590 (GRCh38)
17:2218884 (GRCh37)
Canonical SPDI:: NC_000017.11:2315589:T:G
Gene:: SRR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2315590T>G, NC_000017.10:g.2218884T>G, XM_011523974.4:c.30T>G, XM_011523974.3:c.30T>G, XM_011523974.2:c.30T>G, XM_011523974.1:c.30T>G, XM_006721565.4:c.30T>G, XM_006721565.3:c.30T>G, XM_006721565.2:c.30T>G, XM_006721565.1:c.30T>G, XM_006721566.4:c.30T>G, XM_006721566.3:c.30T>G, XM_006721566.2:c.30T>G, XM_006721566.1:c.30T>G, NM_021947.3:c.30T>G, NM_021947.2:c.30T>G, NM_021947.1:c.30T>G

Select item 14747319693.

rs1474731969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2323253 (GRCh38)
17:2226547 (GRCh37)
Canonical SPDI:: NC_000017.11:2323252:G:A
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2323253G>A, NC_000017.10:g.2226547G>A, NM_018128.5:c.*943C>T, NM_018128.4:c.*943C>T, XM_011523974.4:c.712G>A, XM_011523974.3:c.712G>A, XM_011523974.2:c.712G>A, XM_011523974.1:c.712G>A, XM_006721565.4:c.712G>A, XM_006721565.3:c.712G>A, XM_006721565.2:c.712G>A, XM_006721565.1:c.712G>A, XM_006721566.4:c.712G>A, XM_006721566.3:c.712G>A, XM_006721566.2:c.712G>A, XM_006721566.1:c.712G>A, NM_021947.3:c.712G>A, NM_021947.2:c.712G>A, NM_021947.1:c.712G>A, NM_001304803.1:c.265G>A, XP_011522276.1:p.Asp238Asn, XP_006721628.1:p.Asp238Asn, XP_006721629.1:p.Asp238Asn, NP_068766.1:p.Asp238Asn, NP_001291732.1:p.Asp89Asn

Select item 14731701214.

rs1473170121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2323666 (GRCh38)
17:2226960 (GRCh37)
Canonical SPDI:: NC_000017.11:2323665:G:A
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2323666G>A, NC_000017.10:g.2226960G>A, NM_018128.5:c.*530C>T, NM_018128.4:c.*530C>T, XM_011523974.4:c.816G>A, XM_011523974.3:c.816G>A, XM_011523974.2:c.816G>A, XM_011523974.1:c.816G>A, XM_006721565.4:c.816G>A, XM_006721565.3:c.816G>A, XM_006721565.2:c.816G>A, XM_006721565.1:c.816G>A, XM_006721566.4:c.816G>A, XM_006721566.3:c.816G>A, XM_006721566.2:c.816G>A, XM_006721566.1:c.816G>A, NM_021947.3:c.816G>A, NM_021947.2:c.816G>A, NM_021947.1:c.816G>A, NM_001304803.1:c.369G>A

Select item 14705381845.

rs1470538184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:2315701 (GRCh38)
17:2218995 (GRCh37)
Canonical SPDI:: NC_000017.11:2315700:A:C
Gene:: SRR (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2315701A>C, NC_000017.10:g.2218995A>C, XM_011523974.4:c.141A>C, XM_011523974.3:c.141A>C, XM_011523974.2:c.141A>C, XM_011523974.1:c.141A>C, XM_006721565.4:c.141A>C, XM_006721565.3:c.141A>C, XM_006721565.2:c.141A>C, XM_006721565.1:c.141A>C, XM_006721566.4:c.141A>C, XM_006721566.3:c.141A>C, XM_006721566.2:c.141A>C, XM_006721566.1:c.141A>C, NM_021947.3:c.141A>C, NM_021947.2:c.141A>C, NM_021947.1:c.141A>C, XP_011522276.1:p.Glu47Asp, XP_006721628.1:p.Glu47Asp, XP_006721629.1:p.Glu47Asp, NP_068766.1:p.Glu47Asp

Select item 14671442766.

rs1467144276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2321397 (GRCh38)
17:2224691 (GRCh37)
Canonical SPDI:: NC_000017.11:2321396:G:A
Gene:: SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2321397G>A, NC_000017.10:g.2224691G>A, XM_011523974.4:c.491G>A, XM_011523974.3:c.491G>A, XM_011523974.2:c.491G>A, XM_011523974.1:c.491G>A, XM_006721565.4:c.491G>A, XM_006721565.3:c.491G>A, XM_006721565.2:c.491G>A, XM_006721565.1:c.491G>A, XM_006721566.4:c.491G>A, XM_006721566.3:c.491G>A, XM_006721566.2:c.491G>A, XM_006721566.1:c.491G>A, NM_021947.3:c.491G>A, NM_021947.2:c.491G>A, NM_021947.1:c.491G>A, NM_001304803.1:c.44G>A, XP_011522276.1:p.Gly164Glu, XP_006721628.1:p.Gly164Glu, XP_006721629.1:p.Gly164Glu, NP_068766.1:p.Gly164Glu, NP_001291732.1:p.Gly15Glu

Select item 14664725107.

rs1466472510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:2323733 (GRCh38)
17:2227027 (GRCh37)
Canonical SPDI:: NC_000017.11:2323732:T:A
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2323733T>A, NC_000017.10:g.2227027T>A, NM_018128.5:c.*463A>T, NM_018128.4:c.*463A>T, XM_011523974.4:c.883T>A, XM_011523974.3:c.883T>A, XM_011523974.2:c.883T>A, XM_011523974.1:c.883T>A, XM_006721565.4:c.883T>A, XM_006721565.3:c.883T>A, XM_006721565.2:c.883T>A, XM_006721565.1:c.883T>A, XM_006721566.4:c.883T>A, XM_006721566.3:c.883T>A, XM_006721566.2:c.883T>A, XM_006721566.1:c.883T>A, NM_021947.3:c.883T>A, NM_021947.2:c.883T>A, NM_021947.1:c.883T>A, NM_001304803.1:c.436T>A, XP_011522276.1:p.Ser295Thr, XP_006721628.1:p.Ser295Thr, XP_006721629.1:p.Ser295Thr, NP_068766.1:p.Ser295Thr, NP_001291732.1:p.Ser146Thr

Select item 14645862998.

rs1464586299 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:2321410 (GRCh38)
17:2224704 (GRCh37)
Canonical SPDI:: NC_000017.11:2321409:GG:G
Gene:: SRR (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000043/6 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000017.11:g.2321411del, NC_000017.10:g.2224705del, XM_011523974.4:c.505del, XM_011523974.3:c.505del, XM_011523974.2:c.505del, XM_011523974.1:c.505del, XM_006721565.4:c.505del, XM_006721565.3:c.505del, XM_006721565.2:c.505del, XM_006721565.1:c.505del, XM_006721566.4:c.505del, XM_006721566.3:c.505del, XM_006721566.2:c.505del, XM_006721566.1:c.505del, NM_021947.3:c.505del, NM_021947.2:c.505del, NM_021947.1:c.505del, NM_001304803.1:c.58del, XP_011522276.1:p.Glu169fs, XP_006721628.1:p.Glu169fs, XP_006721629.1:p.Glu169fs, NP_068766.1:p.Glu169fs, NP_001291732.1:p.Glu20fs

Select item 14634391339.

rs1463439133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:2321328 (GRCh38)
17:2224622 (GRCh37)
Canonical SPDI:: NC_000017.11:2321327:G:C
Gene:: SRR (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.2321328G>C, NC_000017.10:g.2224622G>C, XM_011523974.4:c.422G>C, XM_011523974.3:c.422G>C, XM_011523974.2:c.422G>C, XM_011523974.1:c.422G>C, XM_006721565.4:c.422G>C, XM_006721565.3:c.422G>C, XM_006721565.2:c.422G>C, XM_006721565.1:c.422G>C, XM_006721566.4:c.422G>C, XM_006721566.3:c.422G>C, XM_006721566.2:c.422G>C, XM_006721566.1:c.422G>C, NM_021947.3:c.422G>C, NM_021947.2:c.422G>C, NM_021947.1:c.422G>C, NM_001304803.1:c.-26G>C, XP_011522276.1:p.Arg141Thr, XP_006721628.1:p.Arg141Thr, XP_006721629.1:p.Arg141Thr, NP_068766.1:p.Arg141Thr

Select item 146104395810.

rs1461043958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:2323264 (GRCh38)
17:2226558 (GRCh37)
Canonical SPDI:: NC_000017.11:2323263:A:G
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2323264A>G, NC_000017.10:g.2226558A>G, NM_018128.5:c.*932T>C, NM_018128.4:c.*932T>C, XM_011523974.4:c.723A>G, XM_011523974.3:c.723A>G, XM_011523974.2:c.723A>G, XM_011523974.1:c.723A>G, XM_006721565.4:c.723A>G, XM_006721565.3:c.723A>G, XM_006721565.2:c.723A>G, XM_006721565.1:c.723A>G, XM_006721566.4:c.723A>G, XM_006721566.3:c.723A>G, XM_006721566.2:c.723A>G, XM_006721566.1:c.723A>G, NM_021947.3:c.723A>G, NM_021947.2:c.723A>G, NM_021947.1:c.723A>G, NM_001304803.1:c.276A>G

Select item 145915563611.

rs1459155636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:2321366 (GRCh38)
17:2224660 (GRCh37)
Canonical SPDI:: NC_000017.11:2321365:A:G
Gene:: SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.2321366A>G, NC_000017.10:g.2224660A>G, XM_011523974.4:c.460A>G, XM_011523974.3:c.460A>G, XM_011523974.2:c.460A>G, XM_011523974.1:c.460A>G, XM_006721565.4:c.460A>G, XM_006721565.3:c.460A>G, XM_006721565.2:c.460A>G, XM_006721565.1:c.460A>G, XM_006721566.4:c.460A>G, XM_006721566.3:c.460A>G, XM_006721566.2:c.460A>G, XM_006721566.1:c.460A>G, NM_021947.3:c.460A>G, NM_021947.2:c.460A>G, NM_021947.1:c.460A>G, NM_001304803.1:c.13A>G, XP_011522276.1:p.Asn154Asp, XP_006721628.1:p.Asn154Asp, XP_006721629.1:p.Asn154Asp, NP_068766.1:p.Asn154Asp, NP_001291732.1:p.Asn5Asp

Select item 145816125112.

rs1458161251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2323186 (GRCh38)
17:2226480 (GRCh37)
Canonical SPDI:: NC_000017.11:2323185:T:C
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2323186T>C, NC_000017.10:g.2226480T>C, NM_018128.5:c.*1010A>G, NM_018128.4:c.*1010A>G, XM_011523974.4:c.645T>C, XM_011523974.3:c.645T>C, XM_011523974.2:c.645T>C, XM_011523974.1:c.645T>C, XM_006721565.4:c.645T>C, XM_006721565.3:c.645T>C, XM_006721565.2:c.645T>C, XM_006721565.1:c.645T>C, XM_006721566.4:c.645T>C, XM_006721566.3:c.645T>C, XM_006721566.2:c.645T>C, XM_006721566.1:c.645T>C, NM_021947.3:c.645T>C, NM_021947.2:c.645T>C, NM_021947.1:c.645T>C, NM_001304803.1:c.198T>C

Select item 145459077013.

rs1454590770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:2321314 (GRCh38)
17:2224608 (GRCh37)
Canonical SPDI:: NC_000017.11:2321313:A:G
Gene:: SRR (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2321314A>G, NC_000017.10:g.2224608A>G, XM_011523974.4:c.408A>G, XM_011523974.3:c.408A>G, XM_011523974.2:c.408A>G, XM_011523974.1:c.408A>G, XM_006721565.4:c.408A>G, XM_006721565.3:c.408A>G, XM_006721565.2:c.408A>G, XM_006721565.1:c.408A>G, XM_006721566.4:c.408A>G, XM_006721566.3:c.408A>G, XM_006721566.2:c.408A>G, XM_006721566.1:c.408A>G, NM_021947.3:c.408A>G, NM_021947.2:c.408A>G, NM_021947.1:c.408A>G, NM_001304803.1:c.-40A>G

Select item 145045989314.

rs1450459893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:2323333 (GRCh38)
17:2226627 (GRCh37)
Canonical SPDI:: NC_000017.11:2323332:G:A,NC_000017.11:2323332:G:C
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2323333G>A, NC_000017.11:g.2323333G>C, NC_000017.10:g.2226627G>A, NC_000017.10:g.2226627G>C, NM_018128.5:c.*863C>T, NM_018128.5:c.*863C>G, NM_018128.4:c.*863C>T, NM_018128.4:c.*863C>G, XM_011523974.4:c.792G>A, XM_011523974.4:c.792G>C, XM_011523974.3:c.792G>A, XM_011523974.3:c.792G>C, XM_011523974.2:c.792G>A, XM_011523974.2:c.792G>C, XM_011523974.1:c.792G>A, XM_011523974.1:c.792G>C, XM_006721565.4:c.792G>A, XM_006721565.4:c.792G>C, XM_006721565.3:c.792G>A, XM_006721565.3:c.792G>C, XM_006721565.2:c.792G>A, XM_006721565.2:c.792G>C, XM_006721565.1:c.792G>A, XM_006721565.1:c.792G>C, XM_006721566.4:c.792G>A, XM_006721566.4:c.792G>C, XM_006721566.3:c.792G>A, XM_006721566.3:c.792G>C, XM_006721566.2:c.792G>A, XM_006721566.2:c.792G>C, XM_006721566.1:c.792G>A, XM_006721566.1:c.792G>C, NM_021947.3:c.792G>A, NM_021947.3:c.792G>C, NM_021947.2:c.792G>A, NM_021947.2:c.792G>C, NM_021947.1:c.792G>A, NM_021947.1:c.792G>C, NM_001304803.1:c.345G>A, NM_001304803.1:c.345G>C, XP_011522276.1:p.Glu264Asp, XP_006721628.1:p.Glu264Asp, XP_006721629.1:p.Glu264Asp, NP_068766.1:p.Glu264Asp, NP_001291732.1:p.Glu115Asp

Select item 144911262515.

rs1449112625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2315566 (GRCh38)
17:2218860 (GRCh37)
Canonical SPDI:: NC_000017.11:2315565:T:C
Gene:: SRR (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2315566T>C, NC_000017.10:g.2218860T>C, XM_011523974.4:c.6T>C, XM_011523974.3:c.6T>C, XM_011523974.2:c.6T>C, XM_011523974.1:c.6T>C, XM_006721565.4:c.6T>C, XM_006721565.3:c.6T>C, XM_006721565.2:c.6T>C, XM_006721565.1:c.6T>C, XM_006721566.4:c.6T>C, XM_006721566.3:c.6T>C, XM_006721566.2:c.6T>C, XM_006721566.1:c.6T>C, NM_021947.3:c.6T>C, NM_021947.2:c.6T>C, NM_021947.1:c.6T>C

Select item 144214433416.

rs1442144334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:2318892 (GRCh38)
17:2222186 (GRCh37)
Canonical SPDI:: NC_000017.11:2318891:A:G
Gene:: SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2318892A>G, NC_000017.10:g.2222186A>G, XM_011523974.4:c.362A>G, XM_011523974.3:c.362A>G, XM_011523974.2:c.362A>G, XM_011523974.1:c.362A>G, XM_006721565.4:c.362A>G, XM_006721565.3:c.362A>G, XM_006721565.2:c.362A>G, XM_006721565.1:c.362A>G, XM_006721566.4:c.362A>G, XM_006721566.3:c.362A>G, XM_006721566.2:c.362A>G, XM_006721566.1:c.362A>G, NM_021947.3:c.362A>G, NM_021947.2:c.362A>G, NM_021947.1:c.362A>G, NM_001304803.1:c.-86A>G, XP_011522276.1:p.Tyr121Cys, XP_006721628.1:p.Tyr121Cys, XP_006721629.1:p.Tyr121Cys, NP_068766.1:p.Tyr121Cys

Select item 143826743217.

rs1438267432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2321357 (GRCh38)
17:2224651 (GRCh37)
Canonical SPDI:: NC_000017.11:2321356:G:A
Gene:: SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2321357G>A, NC_000017.10:g.2224651G>A, XM_011523974.4:c.451G>A, XM_011523974.3:c.451G>A, XM_011523974.2:c.451G>A, XM_011523974.1:c.451G>A, XM_006721565.4:c.451G>A, XM_006721565.3:c.451G>A, XM_006721565.2:c.451G>A, XM_006721565.1:c.451G>A, XM_006721566.4:c.451G>A, XM_006721566.3:c.451G>A, XM_006721566.2:c.451G>A, XM_006721566.1:c.451G>A, NM_021947.3:c.451G>A, NM_021947.2:c.451G>A, NM_021947.1:c.451G>A, NM_001304803.1:c.4G>A, XP_011522276.1:p.Val151Ile, XP_006721628.1:p.Val151Ile, XP_006721629.1:p.Val151Ile, NP_068766.1:p.Val151Ile, NP_001291732.1:p.Val2Ile

Select item 143819064018.

rs1438190640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2323862 (GRCh38)
17:2227156 (GRCh37)
Canonical SPDI:: NC_000017.11:2323861:G:A
Gene:: TSR1 (Varview), SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2323862G>A, NC_000017.10:g.2227156G>A, NM_018128.5:c.*334C>T, NM_018128.4:c.*334C>T, XM_011523974.4:c.1012G>A, XM_011523974.3:c.1012G>A, XM_011523974.2:c.1012G>A, XM_011523974.1:c.1012G>A, XM_006721565.4:c.1012G>A, XM_006721565.3:c.1012G>A, XM_006721565.2:c.1012G>A, XM_006721565.1:c.1012G>A, XM_006721566.4:c.1012G>A, XM_006721566.3:c.1012G>A, XM_006721566.2:c.1012G>A, XM_006721566.1:c.1012G>A, NM_021947.3:c.1012G>A, NM_021947.2:c.1012G>A, NM_021947.1:c.1012G>A, NM_001304803.1:c.565G>A, XP_011522276.1:p.Val338Ile, XP_006721628.1:p.Val338Ile, XP_006721629.1:p.Val338Ile, NP_068766.1:p.Val338Ile, NP_001291732.1:p.Val189Ile

Select item 143489279319.

rs1434892793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:2317888 (GRCh38)
17:2221182 (GRCh37)
Canonical SPDI:: NC_000017.11:2317887:G:C
Gene:: SRR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000017.11:g.2317888G>C, NC_000017.10:g.2221182G>C, XM_011523974.4:c.187G>C, XM_011523974.3:c.187G>C, XM_011523974.2:c.187G>C, XM_011523974.1:c.187G>C, XM_006721565.4:c.187G>C, XM_006721565.3:c.187G>C, XM_006721565.2:c.187G>C, XM_006721565.1:c.187G>C, XM_006721566.4:c.187G>C, XM_006721566.3:c.187G>C, XM_006721566.2:c.187G>C, XM_006721566.1:c.187G>C, NM_021947.3:c.187G>C, NM_021947.2:c.187G>C, NM_021947.1:c.187G>C, NM_001304803.1:c.-261G>C, XP_011522276.1:p.Ala63Pro, XP_006721628.1:p.Ala63Pro, XP_006721629.1:p.Ala63Pro, NP_068766.1:p.Ala63Pro

Select item 143394605320.

rs1433946053 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATC>- [Show Flanks]
Chromosome:: 17:2315626 (GRCh38)
17:2218920 (GRCh37)
Canonical SPDI:: NC_000017.11:2315623:TCTATC:TC
Gene:: SRR (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TC=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2315626_2315629del, NC_000017.10:g.2218920_2218923del, XM_011523974.4:c.66_69del, XM_011523974.3:c.66_69del, XM_011523974.2:c.66_69del, XM_011523974.1:c.66_69del, XM_006721565.4:c.66_69del, XM_006721565.3:c.66_69del, XM_006721565.2:c.66_69del, XM_006721565.1:c.66_69del, XM_006721566.4:c.66_69del, XM_006721566.3:c.66_69del, XM_006721566.2:c.66_69del, XM_006721566.1:c.66_69del, NM_021947.3:c.66_69del, NM_021947.2:c.66_69del, NM_021947.1:c.66_69del, XP_011522276.1:p.Ile23fs, XP_006721628.1:p.Ile23fs, XP_006721629.1:p.Ile23fs, NP_068766.1:p.Ile23fs

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