SNP Links for Protein (Select 767931075) - SNP

Links from Protein

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Select item 14883729001.

rs1488372900 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:68231208 (GRCh38)
4:69096926 (GRCh37)
Canonical SPDI:: NC_000004.12:68231207:AAA:AA
Gene:: TMPRSS11B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68231210del, NC_000004.11:g.69096928del, NM_182502.3:c.681del, XM_011531608.3:c.681del, XM_011531608.2:c.681del, XM_011531608.1:c.681del, XM_011531609.1:c.681del, NP_872308.2:p.Phe227fs, XP_011529910.1:p.Phe227fs, XP_011529911.1:p.Phe227fs

Select item 14821188952.

rs1482118895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68236260 (GRCh38)
4:69101978 (GRCh37)
Canonical SPDI:: NC_000004.12:68236259:G:A
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68236260G>A, NC_000004.11:g.69101978G>A, NM_182502.3:c.131C>T, XM_011531608.3:c.131C>T, XM_011531608.2:c.131C>T, XM_011531608.1:c.131C>T, XM_011531609.1:c.131C>T, NP_872308.2:p.Thr44Ile, XP_011529910.1:p.Thr44Ile, XP_011529911.1:p.Thr44Ile

Select item 14693073903.

rs1469307390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:68236227 (GRCh38)
4:69101945 (GRCh37)
Canonical SPDI:: NC_000004.12:68236226:C:A,NC_000004.12:68236226:C:G
Gene:: TMPRSS11B (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)
HGVS:: NC_000004.12:g.68236227C>A, NC_000004.12:g.68236227C>G, NC_000004.11:g.69101945C>A, NC_000004.11:g.69101945C>G, NM_182502.3:c.164G>T, NM_182502.3:c.164G>C, XM_011531608.3:c.164G>T, XM_011531608.3:c.164G>C, XM_011531608.2:c.164G>T, XM_011531608.2:c.164G>C, XM_011531608.1:c.164G>T, XM_011531608.1:c.164G>C, XM_011531609.1:c.164G>T, XM_011531609.1:c.164G>C, NP_872308.2:p.Gly55Val, NP_872308.2:p.Gly55Ala, XP_011529910.1:p.Gly55Val, XP_011529910.1:p.Gly55Ala, XP_011529911.1:p.Gly55Val, XP_011529911.1:p.Gly55Ala

Select item 14687705804.

rs1468770580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:68232412 (GRCh38)
4:69098130 (GRCh37)
Canonical SPDI:: NC_000004.12:68232411:G:A,NC_000004.12:68232411:G:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68232412G>A, NC_000004.12:g.68232412G>C, NC_000004.11:g.69098130G>A, NC_000004.11:g.69098130G>C, NM_182502.3:c.474C>T, NM_182502.3:c.474C>G, XM_011531608.3:c.474C>T, XM_011531608.3:c.474C>G, XM_011531608.2:c.474C>T, XM_011531608.2:c.474C>G, XM_011531608.1:c.474C>T, XM_011531608.1:c.474C>G, XM_011531609.1:c.474C>T, XM_011531609.1:c.474C>G, NP_872308.2:p.Ile158Met, XP_011529910.1:p.Ile158Met, XP_011529911.1:p.Ile158Met

Select item 14659379645.

rs1465937964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68241746 (GRCh38)
4:69107464 (GRCh37)
Canonical SPDI:: NC_000004.12:68241745:C:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.68241746C>T, NC_000004.11:g.69107464C>T, NM_182502.3:c.67G>A, XM_011531608.3:c.67G>A, XM_011531608.2:c.67G>A, XM_011531608.1:c.67G>A, XM_011531609.1:c.67G>A, NP_872308.2:p.Gly23Arg, XP_011529910.1:p.Gly23Arg, XP_011529911.1:p.Gly23Arg

Select item 14654340186.

rs1465434018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68241719 (GRCh38)
4:69107437 (GRCh37)
Canonical SPDI:: NC_000004.12:68241718:T:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68241719T>C, NC_000004.11:g.69107437T>C, NM_182502.3:c.94A>G, XM_011531608.3:c.94A>G, XM_011531608.2:c.94A>G, XM_011531608.1:c.94A>G, XM_011531609.1:c.94A>G, NP_872308.2:p.Ile32Val, XP_011529910.1:p.Ile32Val, XP_011529911.1:p.Ile32Val

Select item 14523536337.

rs1452353633 [Homo sapiens]

Variant type:: DEL
Alleles:: CATT>- [Show Flanks]
Chromosome:: 4:68234610 (GRCh38)
4:69100328 (GRCh37)
Canonical SPDI:: NC_000004.12:68234609:CATT:
Gene:: TMPRSS11B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.68234610_68234613del, NC_000004.11:g.69100328_69100331del, NM_182502.3:c.319_322del, XM_011531608.3:c.319_322del, XM_011531608.2:c.319_322del, XM_011531608.1:c.319_322del, XM_011531609.1:c.319_322del, NP_872308.2:p.Asn107fs, XP_011529910.1:p.Asn107fs, XP_011529911.1:p.Asn107fs

Select item 14509963028.

rs1450996302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68234562 (GRCh38)
4:69100280 (GRCh37)
Canonical SPDI:: NC_000004.12:68234561:C:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68234562C>T, NC_000004.11:g.69100280C>T, NM_182502.3:c.370G>A, XM_011531608.3:c.370G>A, XM_011531608.2:c.370G>A, XM_011531608.1:c.370G>A, XM_011531609.1:c.370G>A, NP_872308.2:p.Gly124Arg, XP_011529910.1:p.Gly124Arg, XP_011529911.1:p.Gly124Arg

Select item 14384502869.

rs1438450286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68231278 (GRCh38)
4:69096996 (GRCh37)
Canonical SPDI:: NC_000004.12:68231277:C:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68231278C>T, NC_000004.11:g.69096996C>T, NM_182502.3:c.611G>A, XM_011531608.3:c.611G>A, XM_011531608.2:c.611G>A, XM_011531608.1:c.611G>A, XM_011531609.1:c.611G>A, NP_872308.2:p.Trp204Ter, XP_011529910.1:p.Trp204Ter, XP_011529911.1:p.Trp204Ter

Select item 142473468010.

rs1424734680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:68241717 (GRCh38)
4:69107435 (GRCh37)
Canonical SPDI:: NC_000004.12:68241716:A:C
Gene:: TMPRSS11B (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=0.000004/1 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000004.12:g.68241717A>C, NC_000004.11:g.69107435A>C, NM_182502.3:c.96T>G, XM_011531608.3:c.96T>G, XM_011531608.2:c.96T>G, XM_011531608.1:c.96T>G, XM_011531609.1:c.96T>G, NP_872308.2:p.Ile32Met, XP_011529910.1:p.Ile32Met, XP_011529911.1:p.Ile32Met

Select item 142421523811.

rs1424215238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:68234614 (GRCh38)
4:69100332 (GRCh37)
Canonical SPDI:: NC_000004.12:68234613:G:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.68234614G>T, NC_000004.11:g.69100332G>T, NM_182502.3:c.318C>A, XM_011531608.3:c.318C>A, XM_011531608.2:c.318C>A, XM_011531608.1:c.318C>A, XM_011531609.1:c.318C>A

Select item 142176934512.

rs1421769345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68231295 (GRCh38)
4:69097013 (GRCh37)
Canonical SPDI:: NC_000004.12:68231294:C:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68231295C>T, NC_000004.11:g.69097013C>T, NM_182502.3:c.594G>A, XM_011531608.3:c.594G>A, XM_011531608.2:c.594G>A, XM_011531608.1:c.594G>A, XM_011531609.1:c.594G>A, NP_872308.2:p.Trp198Ter, XP_011529910.1:p.Trp198Ter, XP_011529911.1:p.Trp198Ter

Select item 142138938013.

rs1421389380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:68231224 (GRCh38)
4:69096942 (GRCh37)
Canonical SPDI:: NC_000004.12:68231223:G:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68231224G>C, NC_000004.11:g.69096942G>C, NM_182502.3:c.665C>G, XM_011531608.3:c.665C>G, XM_011531608.2:c.665C>G, XM_011531608.1:c.665C>G, XM_011531609.1:c.665C>G, NP_872308.2:p.Ser222Cys, XP_011529910.1:p.Ser222Cys, XP_011529911.1:p.Ser222Cys

Select item 142115799814.

rs1421157998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:68236029 (GRCh38)
4:69101747 (GRCh37)
Canonical SPDI:: NC_000004.12:68236028:T:G
Gene:: TMPRSS11B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68236029T>G, NC_000004.11:g.69101747T>G, NM_182502.3:c.281A>C, XM_011531608.3:c.281A>C, XM_011531608.2:c.281A>C, XM_011531608.1:c.281A>C, XM_011531609.1:c.281A>C, NP_872308.2:p.Tyr94Ser, XP_011529910.1:p.Tyr94Ser, XP_011529911.1:p.Tyr94Ser

Select item 141683117915.

rs1416831179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:68231245 (GRCh38)
4:69096963 (GRCh37)
Canonical SPDI:: NC_000004.12:68231244:A:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68231245A>C, NC_000004.11:g.69096963A>C, NM_182502.3:c.644T>G, XM_011531608.3:c.644T>G, XM_011531608.2:c.644T>G, XM_011531608.1:c.644T>G, XM_011531609.1:c.644T>G, NP_872308.2:p.Ile215Ser, XP_011529910.1:p.Ile215Ser, XP_011529911.1:p.Ile215Ser

Select item 141487428916.

rs1414874289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68231324 (GRCh38)
4:69097042 (GRCh37)
Canonical SPDI:: NC_000004.12:68231323:T:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.68231324T>C, NC_000004.11:g.69097042T>C, NM_182502.3:c.565A>G, XM_011531608.3:c.565A>G, XM_011531608.2:c.565A>G, XM_011531608.1:c.565A>G, XM_011531609.1:c.565A>G, NP_872308.2:p.Lys189Glu, XP_011529910.1:p.Lys189Glu, XP_011529911.1:p.Lys189Glu

Select item 140941330817.

rs1409413308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68232378 (GRCh38)
4:69098096 (GRCh37)
Canonical SPDI:: NC_000004.12:68232377:A:G
Gene:: TMPRSS11B (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68232378A>G, NC_000004.11:g.69098096A>G, NM_182502.3:c.508T>C, XM_011531608.3:c.508T>C, XM_011531608.2:c.508T>C, XM_011531608.1:c.508T>C, XM_011531609.1:c.508T>C, NP_872308.2:p.Cys170Arg, XP_011529910.1:p.Cys170Arg, XP_011529911.1:p.Cys170Arg

Select item 140041283318.

rs1400412833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68236228 (GRCh38)
4:69101946 (GRCh37)
Canonical SPDI:: NC_000004.12:68236227:C:T
Gene:: TMPRSS11B (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_000004.12:g.68236228C>T, NC_000004.11:g.69101946C>T, NM_182502.3:c.163G>A, XM_011531608.3:c.163G>A, XM_011531608.2:c.163G>A, XM_011531608.1:c.163G>A, XM_011531609.1:c.163G>A, NP_872308.2:p.Gly55Arg, XP_011529910.1:p.Gly55Arg, XP_011529911.1:p.Gly55Arg

Select item 139815134719.

rs1398151347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:68236155 (GRCh38)
4:69101873 (GRCh37)
Canonical SPDI:: NC_000004.12:68236154:G:T
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68236155G>T, NC_000004.11:g.69101873G>T, NM_182502.3:c.236C>A, XM_011531608.3:c.236C>A, XM_011531608.2:c.236C>A, XM_011531608.1:c.236C>A, XM_011531609.1:c.236C>A, NP_872308.2:p.Thr79Asn, XP_011529910.1:p.Thr79Asn, XP_011529911.1:p.Thr79Asn

Select item 139465278420.

rs1394652784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68231336 (GRCh38)
4:69097054 (GRCh37)
Canonical SPDI:: NC_000004.12:68231335:T:C
Gene:: TMPRSS11B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68231336T>C, NC_000004.11:g.69097054T>C, NM_182502.3:c.553A>G, XM_011531608.3:c.553A>G, XM_011531608.2:c.553A>G, XM_011531608.1:c.553A>G, XM_011531609.1:c.553A>G, NP_872308.2:p.Ile185Val, XP_011529910.1:p.Ile185Val, XP_011529911.1:p.Ile185Val

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