SNP Links for Protein (Select 578820026) - SNP

Links from Protein

Items: 1 to 20 of 619

<< First< Prev

Page of 31

Next >Last >>

Select item 14895402041.

rs1489540204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:72007892 (GRCh38)
10:73767650 (GRCh37)
Canonical SPDI:: NC_000010.11:72007891:C:G
Gene:: CHST3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72007892C>G, NC_000010.10:g.73767650C>G, NG_012635.1:g.48531C>G, NM_004273.5:c.861C>G, NM_004273.4:c.861C>G, XM_006718075.5:c.861C>G, XM_006718075.4:c.861C>G, XM_006718075.3:c.861C>G, XM_006718075.2:c.861C>G, XM_006718075.1:c.861C>G, XM_011540369.3:c.861C>G, XM_011540369.2:c.861C>G, XM_011540369.1:c.861C>G, XM_047426022.1:c.861C>G

Select item 14894371512.

rs1489437151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72007446 (GRCh38)
10:73767204 (GRCh37)
Canonical SPDI:: NC_000010.11:72007445:G:A
Gene:: CHST3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72007446G>A, NC_000010.10:g.73767204G>A, NG_012635.1:g.48085G>A, NM_004273.5:c.415G>A, NM_004273.4:c.415G>A, XM_006718075.5:c.415G>A, XM_006718075.4:c.415G>A, XM_006718075.3:c.415G>A, XM_006718075.2:c.415G>A, XM_006718075.1:c.415G>A, XM_011540369.3:c.415G>A, XM_011540369.2:c.415G>A, XM_011540369.1:c.415G>A, XM_047426022.1:c.415G>A, NP_004264.2:p.Ala139Thr, XP_006718138.1:p.Ala139Thr, XP_011538671.1:p.Ala139Thr, XP_047281978.1:p.Ala139Thr

Select item 14872783433.

rs1487278343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72007715 (GRCh38)
10:73767473 (GRCh37)
Canonical SPDI:: NC_000010.11:72007714:G:A
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000010.11:g.72007715G>A, NC_000010.10:g.73767473G>A, NG_012635.1:g.48354G>A, NM_004273.5:c.684G>A, NM_004273.4:c.684G>A, XM_006718075.5:c.684G>A, XM_006718075.4:c.684G>A, XM_006718075.3:c.684G>A, XM_006718075.2:c.684G>A, XM_006718075.1:c.684G>A, XM_011540369.3:c.684G>A, XM_011540369.2:c.684G>A, XM_011540369.1:c.684G>A, XM_047426022.1:c.684G>A

Select item 14851909874.

rs1485190987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:72007662 (GRCh38)
10:73767420 (GRCh37)
Canonical SPDI:: NC_000010.11:72007661:C:A,NC_000010.11:72007661:C:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72007662C>A, NC_000010.11:g.72007662C>T, NC_000010.10:g.73767420C>A, NC_000010.10:g.73767420C>T, NG_012635.1:g.48301C>A, NG_012635.1:g.48301C>T, NM_004273.5:c.631C>A, NM_004273.5:c.631C>T, NM_004273.4:c.631C>A, NM_004273.4:c.631C>T, XM_006718075.5:c.631C>A, XM_006718075.5:c.631C>T, XM_006718075.4:c.631C>A, XM_006718075.4:c.631C>T, XM_006718075.3:c.631C>A, XM_006718075.3:c.631C>T, XM_006718075.2:c.631C>A, XM_006718075.2:c.631C>T, XM_006718075.1:c.631C>A, XM_006718075.1:c.631C>T, XM_011540369.3:c.631C>A, XM_011540369.3:c.631C>T, XM_011540369.2:c.631C>A, XM_011540369.2:c.631C>T, XM_011540369.1:c.631C>A, XM_011540369.1:c.631C>T, XM_047426022.1:c.631C>A, XM_047426022.1:c.631C>T, NP_004264.2:p.Pro211Thr, NP_004264.2:p.Pro211Ser, XP_006718138.1:p.Pro211Thr, XP_006718138.1:p.Pro211Ser, XP_011538671.1:p.Pro211Thr, XP_011538671.1:p.Pro211Ser, XP_047281978.1:p.Pro211Thr, XP_047281978.1:p.Pro211Ser

Select item 14849651385.

rs1484965138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72008212 (GRCh38)
10:73767970 (GRCh37)
Canonical SPDI:: NC_000010.11:72008211:C:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.72008212C>T, NC_000010.10:g.73767970C>T, NG_012635.1:g.48851C>T, NM_004273.5:c.1181C>T, NM_004273.4:c.1181C>T, XM_006718075.5:c.1181C>T, XM_006718075.4:c.1181C>T, XM_006718075.3:c.1181C>T, XM_006718075.2:c.1181C>T, XM_006718075.1:c.1181C>T, XM_011540369.3:c.1181C>T, XM_011540369.2:c.1181C>T, XM_011540369.1:c.1181C>T, XM_047426022.1:c.1181C>T, NP_004264.2:p.Thr394Ile, XP_006718138.1:p.Thr394Ile, XP_011538671.1:p.Thr394Ile, XP_047281978.1:p.Thr394Ile

Select item 14834224826.

rs1483422482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72008160 (GRCh38)
10:73767918 (GRCh37)
Canonical SPDI:: NC_000010.11:72008159:G:A
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72008160G>A, NC_000010.10:g.73767918G>A, NG_012635.1:g.48799G>A, NM_004273.5:c.1129G>A, NM_004273.4:c.1129G>A, XM_006718075.5:c.1129G>A, XM_006718075.4:c.1129G>A, XM_006718075.3:c.1129G>A, XM_006718075.2:c.1129G>A, XM_006718075.1:c.1129G>A, XM_011540369.3:c.1129G>A, XM_011540369.2:c.1129G>A, XM_011540369.1:c.1129G>A, XM_047426022.1:c.1129G>A, NP_004264.2:p.Gly377Arg, XP_006718138.1:p.Gly377Arg, XP_011538671.1:p.Gly377Arg, XP_047281978.1:p.Gly377Arg

Select item 14833703327.

rs1483370332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72007608 (GRCh38)
10:73767366 (GRCh37)
Canonical SPDI:: NC_000010.11:72007607:A:G
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.72007608A>G, NC_000010.10:g.73767366A>G, NG_012635.1:g.48247A>G, NM_004273.5:c.577A>G, NM_004273.4:c.577A>G, XM_006718075.5:c.577A>G, XM_006718075.4:c.577A>G, XM_006718075.3:c.577A>G, XM_006718075.2:c.577A>G, XM_006718075.1:c.577A>G, XM_011540369.3:c.577A>G, XM_011540369.2:c.577A>G, XM_011540369.1:c.577A>G, XM_047426022.1:c.577A>G, NP_004264.2:p.Lys193Glu, XP_006718138.1:p.Lys193Glu, XP_011538671.1:p.Lys193Glu, XP_047281978.1:p.Lys193Glu

Select item 14769175528.

rs1476917552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72007625 (GRCh38)
10:73767383 (GRCh37)
Canonical SPDI:: NC_000010.11:72007624:C:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000010.11:g.72007625C>T, NC_000010.10:g.73767383C>T, NG_012635.1:g.48264C>T, NM_004273.5:c.594C>T, NM_004273.4:c.594C>T, XM_006718075.5:c.594C>T, XM_006718075.4:c.594C>T, XM_006718075.3:c.594C>T, XM_006718075.2:c.594C>T, XM_006718075.1:c.594C>T, XM_011540369.3:c.594C>T, XM_011540369.2:c.594C>T, XM_011540369.1:c.594C>T, XM_047426022.1:c.594C>T

Select item 14768567289.

rs1476856728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:72007457 (GRCh38)
10:73767215 (GRCh37)
Canonical SPDI:: NC_000010.11:72007456:C:A,NC_000010.11:72007456:C:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000219/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72007457C>A, NC_000010.11:g.72007457C>T, NC_000010.10:g.73767215C>A, NC_000010.10:g.73767215C>T, NG_012635.1:g.48096C>A, NG_012635.1:g.48096C>T, NM_004273.5:c.426C>A, NM_004273.5:c.426C>T, NM_004273.4:c.426C>A, NM_004273.4:c.426C>T, XM_006718075.5:c.426C>A, XM_006718075.5:c.426C>T, XM_006718075.4:c.426C>A, XM_006718075.4:c.426C>T, XM_006718075.3:c.426C>A, XM_006718075.3:c.426C>T, XM_006718075.2:c.426C>A, XM_006718075.2:c.426C>T, XM_006718075.1:c.426C>A, XM_006718075.1:c.426C>T, XM_011540369.3:c.426C>A, XM_011540369.3:c.426C>T, XM_011540369.2:c.426C>A, XM_011540369.2:c.426C>T, XM_011540369.1:c.426C>A, XM_011540369.1:c.426C>T, XM_047426022.1:c.426C>A, XM_047426022.1:c.426C>T

Select item 147678487010.

rs1476784870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72007667 (GRCh38)
10:73767425 (GRCh37)
Canonical SPDI:: NC_000010.11:72007666:G:A
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72007667G>A, NC_000010.10:g.73767425G>A, NG_012635.1:g.48306G>A, NM_004273.5:c.636G>A, NM_004273.4:c.636G>A, XM_006718075.5:c.636G>A, XM_006718075.4:c.636G>A, XM_006718075.3:c.636G>A, XM_006718075.2:c.636G>A, XM_006718075.1:c.636G>A, XM_011540369.3:c.636G>A, XM_011540369.2:c.636G>A, XM_011540369.1:c.636G>A, XM_047426022.1:c.636G>A

Select item 147593923311.

rs1475939233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:72008339 (GRCh38)
10:73768097 (GRCh37)
Canonical SPDI:: NC_000010.11:72008338:G:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72008339G>T, NC_000010.10:g.73768097G>T, NG_012635.1:g.48978G>T, NM_004273.5:c.1308G>T, NM_004273.4:c.1308G>T, XM_006718075.5:c.1308G>T, XM_006718075.4:c.1308G>T, XM_006718075.3:c.1308G>T, XM_006718075.2:c.1308G>T, XM_006718075.1:c.1308G>T, XM_011540369.3:c.1308G>T, XM_011540369.2:c.1308G>T, XM_011540369.1:c.1308G>T, XM_047426022.1:c.1308G>T

Select item 147495899612.

rs1474958996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:72008119 (GRCh38)
10:73767877 (GRCh37)
Canonical SPDI:: NC_000010.11:72008118:G:A,NC_000010.11:72008118:G:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
HGVS:: NC_000010.11:g.72008119G>A, NC_000010.11:g.72008119G>T, NC_000010.10:g.73767877G>A, NC_000010.10:g.73767877G>T, NG_012635.1:g.48758G>A, NG_012635.1:g.48758G>T, NM_004273.5:c.1088G>A, NM_004273.5:c.1088G>T, NM_004273.4:c.1088G>A, NM_004273.4:c.1088G>T, XM_006718075.5:c.1088G>A, XM_006718075.5:c.1088G>T, XM_006718075.4:c.1088G>A, XM_006718075.4:c.1088G>T, XM_006718075.3:c.1088G>A, XM_006718075.3:c.1088G>T, XM_006718075.2:c.1088G>A, XM_006718075.2:c.1088G>T, XM_006718075.1:c.1088G>A, XM_006718075.1:c.1088G>T, XM_011540369.3:c.1088G>A, XM_011540369.3:c.1088G>T, XM_011540369.2:c.1088G>A, XM_011540369.2:c.1088G>T, XM_011540369.1:c.1088G>A, XM_011540369.1:c.1088G>T, XM_047426022.1:c.1088G>A, XM_047426022.1:c.1088G>T, NP_004264.2:p.Arg363Gln, NP_004264.2:p.Arg363Leu, XP_006718138.1:p.Arg363Gln, XP_006718138.1:p.Arg363Leu, XP_011538671.1:p.Arg363Gln, XP_011538671.1:p.Arg363Leu, XP_047281978.1:p.Arg363Gln, XP_047281978.1:p.Arg363Leu

Select item 147487988813.

rs1474879888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:72007905 (GRCh38)
10:73767663 (GRCh37)
Canonical SPDI:: NC_000010.11:72007904:C:G,NC_000010.11:72007904:C:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.72007905C>G, NC_000010.11:g.72007905C>T, NC_000010.10:g.73767663C>G, NC_000010.10:g.73767663C>T, NG_012635.1:g.48544C>G, NG_012635.1:g.48544C>T, NM_004273.5:c.874C>G, NM_004273.5:c.874C>T, NM_004273.4:c.874C>G, NM_004273.4:c.874C>T, XM_006718075.5:c.874C>G, XM_006718075.5:c.874C>T, XM_006718075.4:c.874C>G, XM_006718075.4:c.874C>T, XM_006718075.3:c.874C>G, XM_006718075.3:c.874C>T, XM_006718075.2:c.874C>G, XM_006718075.2:c.874C>T, XM_006718075.1:c.874C>G, XM_006718075.1:c.874C>T, XM_011540369.3:c.874C>G, XM_011540369.3:c.874C>T, XM_011540369.2:c.874C>G, XM_011540369.2:c.874C>T, XM_011540369.1:c.874C>G, XM_011540369.1:c.874C>T, XM_047426022.1:c.874C>G, XM_047426022.1:c.874C>T, NP_004264.2:p.Leu292Val, XP_006718138.1:p.Leu292Val, XP_011538671.1:p.Leu292Val, XP_047281978.1:p.Leu292Val

Select item 147486532414.

rs1474865324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:72008430 (GRCh38)
10:73768188 (GRCh37)
Canonical SPDI:: NC_000010.11:72008429:G:A,NC_000010.11:72008429:G:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72008430G>A, NC_000010.11:g.72008430G>T, NC_000010.10:g.73768188G>A, NC_000010.10:g.73768188G>T, NG_012635.1:g.49069G>A, NG_012635.1:g.49069G>T, NM_004273.5:c.1399G>A, NM_004273.5:c.1399G>T, NM_004273.4:c.1399G>A, NM_004273.4:c.1399G>T, XM_006718075.5:c.1399G>A, XM_006718075.5:c.1399G>T, XM_006718075.4:c.1399G>A, XM_006718075.4:c.1399G>T, XM_006718075.3:c.1399G>A, XM_006718075.3:c.1399G>T, XM_006718075.2:c.1399G>A, XM_006718075.2:c.1399G>T, XM_006718075.1:c.1399G>A, XM_006718075.1:c.1399G>T, XM_011540369.3:c.1399G>A, XM_011540369.3:c.1399G>T, XM_011540369.2:c.1399G>A, XM_011540369.2:c.1399G>T, XM_011540369.1:c.1399G>A, XM_011540369.1:c.1399G>T, XM_047426022.1:c.1399G>A, XM_047426022.1:c.1399G>T, NP_004264.2:p.Val467Ile, NP_004264.2:p.Val467Phe, XP_006718138.1:p.Val467Ile, XP_006718138.1:p.Val467Phe, XP_011538671.1:p.Val467Ile, XP_011538671.1:p.Val467Phe, XP_047281978.1:p.Val467Ile, XP_047281978.1:p.Val467Phe

Select item 147485839015.

rs1474858390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72007615 (GRCh38)
10:73767373 (GRCh37)
Canonical SPDI:: NC_000010.11:72007614:T:C
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72007615T>C, NC_000010.10:g.73767373T>C, NG_012635.1:g.48254T>C, NM_004273.5:c.584T>C, NM_004273.4:c.584T>C, XM_006718075.5:c.584T>C, XM_006718075.4:c.584T>C, XM_006718075.3:c.584T>C, XM_006718075.2:c.584T>C, XM_006718075.1:c.584T>C, XM_011540369.3:c.584T>C, XM_011540369.2:c.584T>C, XM_011540369.1:c.584T>C, XM_047426022.1:c.584T>C, NP_004264.2:p.Leu195Pro, XP_006718138.1:p.Leu195Pro, XP_011538671.1:p.Leu195Pro, XP_047281978.1:p.Leu195Pro

Select item 147226170516.

rs1472261705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:72008252 (GRCh38)
10:73768010 (GRCh37)
Canonical SPDI:: NC_000010.11:72008251:G:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72008252G>T, NC_000010.10:g.73768010G>T, NG_012635.1:g.48891G>T, NM_004273.5:c.1221G>T, NM_004273.4:c.1221G>T, XM_006718075.5:c.1221G>T, XM_006718075.4:c.1221G>T, XM_006718075.3:c.1221G>T, XM_006718075.2:c.1221G>T, XM_006718075.1:c.1221G>T, XM_011540369.3:c.1221G>T, XM_011540369.2:c.1221G>T, XM_011540369.1:c.1221G>T, XM_047426022.1:c.1221G>T

Select item 147185867517.

rs1471858675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72008367 (GRCh38)
10:73768125 (GRCh37)
Canonical SPDI:: NC_000010.11:72008366:C:T
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.72008367C>T, NC_000010.10:g.73768125C>T, NG_012635.1:g.49006C>T, NM_004273.5:c.1336C>T, NM_004273.4:c.1336C>T, XM_006718075.5:c.1336C>T, XM_006718075.4:c.1336C>T, XM_006718075.3:c.1336C>T, XM_006718075.2:c.1336C>T, XM_006718075.1:c.1336C>T, XM_011540369.3:c.1336C>T, XM_011540369.2:c.1336C>T, XM_011540369.1:c.1336C>T, XM_047426022.1:c.1336C>T, NP_004264.2:p.Pro446Ser, XP_006718138.1:p.Pro446Ser, XP_011538671.1:p.Pro446Ser, XP_047281978.1:p.Pro446Ser

Select item 147007806318.

rs1470078063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:72008327 (GRCh38)
10:73768085 (GRCh37)
Canonical SPDI:: NC_000010.11:72008326:G:C
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.72008327G>C, NC_000010.10:g.73768085G>C, NG_012635.1:g.48966G>C, NM_004273.5:c.1296G>C, NM_004273.4:c.1296G>C, XM_006718075.5:c.1296G>C, XM_006718075.4:c.1296G>C, XM_006718075.3:c.1296G>C, XM_006718075.2:c.1296G>C, XM_006718075.1:c.1296G>C, XM_011540369.3:c.1296G>C, XM_011540369.2:c.1296G>C, XM_011540369.1:c.1296G>C, XM_047426022.1:c.1296G>C, NP_004264.2:p.Met432Ile, XP_006718138.1:p.Met432Ile, XP_011538671.1:p.Met432Ile, XP_047281978.1:p.Met432Ile

Select item 147002121419.

rs1470021214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72008274 (GRCh38)
10:73768032 (GRCh37)
Canonical SPDI:: NC_000010.11:72008273:T:C
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.72008274T>C, NC_000010.10:g.73768032T>C, NG_012635.1:g.48913T>C, NM_004273.5:c.1243T>C, NM_004273.4:c.1243T>C, XM_006718075.5:c.1243T>C, XM_006718075.4:c.1243T>C, XM_006718075.3:c.1243T>C, XM_006718075.2:c.1243T>C, XM_006718075.1:c.1243T>C, XM_011540369.3:c.1243T>C, XM_011540369.2:c.1243T>C, XM_011540369.1:c.1243T>C, XM_047426022.1:c.1243T>C, NP_004264.2:p.Tyr415His, XP_006718138.1:p.Tyr415His, XP_011538671.1:p.Tyr415His, XP_047281978.1:p.Tyr415His

Select item 146958194620.

rs1469581946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72005976 (GRCh38)
10:73765734 (GRCh37)
Canonical SPDI:: NC_000010.11:72005975:T:C
Gene:: CHST3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72005976T>C, NC_000010.10:g.73765734T>C, NG_012635.1:g.46615T>C, NM_004273.5:c.134T>C, NM_004273.4:c.134T>C, XM_006718075.5:c.134T>C, XM_006718075.4:c.134T>C, XM_006718075.3:c.134T>C, XM_006718075.2:c.134T>C, XM_006718075.1:c.134T>C, XM_011540369.3:c.134T>C, XM_011540369.2:c.134T>C, XM_011540369.1:c.134T>C, XM_047426022.1:c.134T>C, NP_004264.2:p.Ile45Thr, XP_006718138.1:p.Ile45Thr, XP_011538671.1:p.Ile45Thr, XP_047281978.1:p.Ile45Thr

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 619

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity