SNP Links for Protein (Select 89242134) - SNP

Links from Protein

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Select item 14905818721.

rs1490581872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:199933311 (GRCh38)
2:200798034 (GRCh37)
Canonical SPDI:: NC_000002.12:199933310:T:A,NC_000002.12:199933310:T:C
Gene:: TYW5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.199933311T>A, NC_000002.12:g.199933311T>C, NC_000002.11:g.200798034T>A, NC_000002.11:g.200798034T>C, NM_001039693.3:c.704A>T, NM_001039693.3:c.704A>G, NM_001039693.2:c.704A>T, NM_001039693.2:c.704A>G, NR_004862.2:n.706A>T, NR_004862.2:n.706A>G, NR_004862.1:n.951A>T, NR_004862.1:n.951A>G, NR_109906.2:n.618A>T, NR_109906.2:n.618A>G, NR_109906.1:n.863A>T, NR_109906.1:n.863A>G, NR_109907.2:n.570A>T, NR_109907.2:n.570A>G, NR_109907.1:n.815A>T, NR_109907.1:n.815A>G, NR_109905.2:n.454A>T, NR_109905.2:n.454A>G, NR_109905.1:n.699A>T, NR_109905.1:n.699A>G, XM_047443271.1:c.742A>T, XM_047443271.1:c.742A>G, XM_047443272.1:c.389A>T, XM_047443272.1:c.389A>G, NM_152382.1:c.215A>T, NM_152382.1:c.215A>G, NP_001034782.1:p.His235Leu, NP_001034782.1:p.His235Arg, XP_047299227.1:p.Ile248Leu, XP_047299227.1:p.Ile248Val, XP_047299228.1:p.His130Leu, XP_047299228.1:p.His130Arg

Select item 14894392802.

rs1489439280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:199933282 (GRCh38)
2:200798005 (GRCh37)
Canonical SPDI:: NC_000002.12:199933281:C:T
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.199933282C>T, NC_000002.11:g.200798005C>T, NM_001039693.3:c.733G>A, NM_001039693.2:c.733G>A, NR_004862.2:n.735G>A, NR_004862.1:n.980G>A, NR_109906.2:n.647G>A, NR_109906.1:n.892G>A, NR_109907.2:n.599G>A, NR_109907.1:n.844G>A, NR_109905.2:n.483G>A, NR_109905.1:n.728G>A, XM_047443271.1:c.*21G>A, XM_047443272.1:c.418G>A, NM_152382.1:c.244G>A, NP_001034782.1:p.Gly245Arg, XP_047299228.1:p.Gly140Arg

Select item 14836713533.

rs1483671353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199933120 (GRCh38)
2:200797843 (GRCh37)
Canonical SPDI:: NC_000002.12:199933119:G:A
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.199933120G>A, NC_000002.11:g.200797843G>A, NM_001039693.3:c.895C>T, NM_001039693.2:c.895C>T, NR_004862.2:n.897C>T, NR_004862.1:n.1142C>T, NR_109906.2:n.809C>T, NR_109906.1:n.1054C>T, NR_109907.2:n.761C>T, NR_109907.1:n.1006C>T, NR_109905.2:n.645C>T, NR_109905.1:n.890C>T, XM_047443271.1:c.*183C>T, XM_047443272.1:c.580C>T, NM_152382.1:c.406C>T, NP_001034782.1:p.Arg299Ter, XP_047299228.1:p.Arg194Ter

Select item 14795844114.

rs1479584411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:199939062 (GRCh38)
2:200803785 (GRCh37)
Canonical SPDI:: NC_000002.12:199939061:T:G
Gene:: TYW5 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.199939062T>G, NC_000002.11:g.200803785T>G, NM_001039693.3:c.357A>C, NM_001039693.2:c.357A>C, NR_004862.2:n.359A>C, NR_004862.1:n.604A>C, NR_109906.2:n.359A>C, NR_109906.1:n.604A>C, NR_109907.2:n.223A>C, NR_109907.1:n.468A>C, XM_047443271.1:c.357A>C, XM_047443272.1:c.42A>C, XM_047443273.1:c.357A>C, NM_152382.1:c.-133A>C

Select item 14789160275.

rs1478916027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:199933212 (GRCh38)
2:200797935 (GRCh37)
Canonical SPDI:: NC_000002.12:199933211:T:A
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.199933212T>A, NC_000002.11:g.200797935T>A, NM_001039693.3:c.803A>T, NM_001039693.2:c.803A>T, NR_004862.2:n.805A>T, NR_004862.1:n.1050A>T, NR_109906.2:n.717A>T, NR_109906.1:n.962A>T, NR_109907.2:n.669A>T, NR_109907.1:n.914A>T, NR_109905.2:n.553A>T, NR_109905.1:n.798A>T, XM_047443271.1:c.*91A>T, XM_047443272.1:c.488A>T, NM_152382.1:c.314A>T, NP_001034782.1:p.Asp268Val, XP_047299228.1:p.Asp163Val

Select item 14708581506.

rs1470858150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:199955460 (GRCh38)
2:200820183 (GRCh37)
Canonical SPDI:: NC_000002.12:199955459:T:C
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_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_000002.12:g.199955460T>C, NC_000002.11:g.200820183T>C, NG_082783.1:g.426T>C, NM_001039693.3:c.11A>G, NM_001039693.2:c.11A>G, NR_004862.2:n.32A>G, NR_004862.1:n.277A>G, NR_109906.2:n.32A>G, NR_109906.1:n.277A>G, NR_109907.2:n.32A>G, NR_109907.1:n.277A>G, NR_109905.2:n.32A>G, NR_109905.1:n.277A>G, XM_047443271.1:c.11A>G, XM_047443273.1:c.11A>G, NM_152382.1:c.-324A>G, NP_001034782.1:p.Gln4Arg, XP_047299227.1:p.Gln4Arg, XP_047299229.1:p.Gln4Arg

Select item 14683571517.

rs1468357151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:199938966 (GRCh38)
2:200803689 (GRCh37)
Canonical SPDI:: NC_000002.12:199938965:A:G
Gene:: TYW5 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.199938966A>G, NC_000002.11:g.200803689A>G, NM_001039693.3:c.453T>C, NM_001039693.2:c.453T>C, NR_004862.2:n.455T>C, NR_004862.1:n.700T>C, NR_109906.2:n.455T>C, NR_109906.1:n.700T>C, NR_109907.2:n.319T>C, NR_109907.1:n.564T>C, XM_047443271.1:c.453T>C, XM_047443272.1:c.138T>C, XM_047443273.1:c.453T>C, NM_152382.1:c.-37T>C

Select item 14682743888.

rs1468274388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:199955424 (GRCh38)
2:200820147 (GRCh37)
Canonical SPDI:: NC_000002.12:199955423:C:T
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.199955424C>T, NC_000002.11:g.200820147C>T, NG_082783.1:g.390C>T, NM_001039693.3:c.47G>A, NM_001039693.2:c.47G>A, NR_004862.2:n.68G>A, NR_004862.1:n.313G>A, NR_109906.2:n.68G>A, NR_109906.1:n.313G>A, NR_109907.2:n.68G>A, NR_109907.1:n.313G>A, NR_109905.2:n.68G>A, NR_109905.1:n.313G>A, XM_047443271.1:c.47G>A, XM_047443273.1:c.47G>A, NM_152382.1:c.-288G>A, NP_001034782.1:p.Arg16Gln, XP_047299227.1:p.Arg16Gln, XP_047299229.1:p.Arg16Gln

Select item 14677686219.

rs1467768621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:199940114 (GRCh38)
2:200804837 (GRCh37)
Canonical SPDI:: NC_000002.12:199940113:C:G
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.199940114C>G, NC_000002.11:g.200804837C>G, NM_001039693.3:c.323G>C, NM_001039693.2:c.323G>C, NR_004862.2:n.325G>C, NR_004862.1:n.570G>C, NR_109906.2:n.325G>C, NR_109906.1:n.570G>C, NR_109907.2:n.189G>C, NR_109907.1:n.434G>C, XM_047443271.1:c.323G>C, XM_047443273.1:c.323G>C, NM_152382.1:c.-167G>C, NP_001034782.1:p.Arg108Pro, XP_047299227.1:p.Arg108Pro, XP_047299229.1:p.Arg108Pro

Select item 146735524010.

rs1467355240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:199936007 (GRCh38)
2:200800730 (GRCh37)
Canonical SPDI:: NC_000002.12:199936006:C:T
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.199936007C>T, NC_000002.11:g.200800730C>T, NM_001039693.3:c.615G>A, NM_001039693.2:c.615G>A, NR_004862.2:n.617G>A, NR_004862.1:n.862G>A, NR_109906.2:n.529G>A, NR_109906.1:n.774G>A, NR_109907.2:n.481G>A, NR_109907.1:n.726G>A, NR_109905.2:n.365G>A, NR_109905.1:n.610G>A, XM_047443271.1:c.615G>A, XM_047443272.1:c.300G>A, XM_047443273.1:c.*20G>A, NM_152382.1:c.126G>A

Select item 146728219511.

rs1467282195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:199933136 (GRCh38)
2:200797859 (GRCh37)
Canonical SPDI:: NC_000002.12:199933135:A:C,NC_000002.12:199933135:A:G
Gene:: TYW5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.199933136A>C, NC_000002.12:g.199933136A>G, NC_000002.11:g.200797859A>C, NC_000002.11:g.200797859A>G, NM_001039693.3:c.879T>G, NM_001039693.3:c.879T>C, NM_001039693.2:c.879T>G, NM_001039693.2:c.879T>C, NR_004862.2:n.881T>G, NR_004862.2:n.881T>C, NR_004862.1:n.1126T>G, NR_004862.1:n.1126T>C, NR_109906.2:n.793T>G, NR_109906.2:n.793T>C, NR_109906.1:n.1038T>G, NR_109906.1:n.1038T>C, NR_109907.2:n.745T>G, NR_109907.2:n.745T>C, NR_109907.1:n.990T>G, NR_109907.1:n.990T>C, NR_109905.2:n.629T>G, NR_109905.2:n.629T>C, NR_109905.1:n.874T>G, NR_109905.1:n.874T>C, XM_047443271.1:c.*167T>G, XM_047443271.1:c.*167T>C, XM_047443272.1:c.564T>G, XM_047443272.1:c.564T>C, NM_152382.1:c.390T>G, NM_152382.1:c.390T>C, NP_001034782.1:p.Tyr293Ter, XP_047299228.1:p.Tyr188Ter

Select item 146620628612.

rs1466206286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTTCTTGCTG>- [Show Flanks]
Chromosome:: 2:199933075 (GRCh38)
2:200797798 (GRCh37)
Canonical SPDI:: NC_000002.12:199933073:GAGTTCTTGCTG:G
Gene:: TYW5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.199933075_199933085del, NC_000002.11:g.200797798_200797808del, NM_001039693.3:c.931_941del, NM_001039693.2:c.931_941del, NR_004862.2:n.933_943del, NR_004862.1:n.1178_1188del, NR_109906.2:n.845_855del, NR_109906.1:n.1090_1100del, NR_109907.2:n.797_807del, NR_109907.1:n.1042_1052del, NR_109905.2:n.681_691del, NR_109905.1:n.926_936del, XM_047443271.1:c.*219_*229del, XM_047443272.1:c.616_626del, NM_152382.1:c.442_452del, NP_001034782.1:p.Tyr310_Ser311insTer, XP_047299228.1:p.Tyr205_Ser206insTer

Select item 146091931713.

rs1460919317 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:199948374 (GRCh38)
2:200813097 (GRCh37)
Canonical SPDI:: NC_000002.12:199948372:TCT:T
Gene:: TYW5 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.199948374_199948375del, NC_000002.11:g.200813097_200813098del, NM_001039693.3:c.177_178del, NM_001039693.2:c.177_178del, NR_004862.2:n.198_199del, NR_004862.1:n.443_444del, NR_109906.2:n.198_199del, NR_109906.1:n.443_444del, NR_109905.2:n.198_199del, NR_109905.1:n.443_444del, XM_047443271.1:c.177_178del, XM_047443272.1:c.-5_-4del, XM_047443273.1:c.177_178del, NP_001034782.1:p.Lys59fs, XP_047299227.1:p.Lys59fs, XP_047299229.1:p.Lys59fs

Select item 144974377614.

rs1449743776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:199955453 (GRCh38)
2:200820176 (GRCh37)
Canonical SPDI:: NC_000002.12:199955452:G:A
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.199955453G>A, NC_000002.11:g.200820176G>A, NG_082783.1:g.419G>A, NM_001039693.3:c.18C>T, NM_001039693.2:c.18C>T, NR_004862.2:n.39C>T, NR_004862.1:n.284C>T, NR_109906.2:n.39C>T, NR_109906.1:n.284C>T, NR_109907.2:n.39C>T, NR_109907.1:n.284C>T, NR_109905.2:n.39C>T, NR_109905.1:n.284C>T, XM_047443271.1:c.18C>T, XM_047443273.1:c.18C>T, NM_152382.1:c.-317C>T

Select item 144429808915.

rs1444298089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:199938982 (GRCh38)
2:200803705 (GRCh37)
Canonical SPDI:: NC_000002.12:199938981:C:T
Gene:: TYW5 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.199938982C>T, NC_000002.11:g.200803705C>T, NM_001039693.3:c.437G>A, NM_001039693.2:c.437G>A, NR_004862.2:n.439G>A, NR_004862.1:n.684G>A, NR_109906.2:n.439G>A, NR_109906.1:n.684G>A, NR_109907.2:n.303G>A, NR_109907.1:n.548G>A, XM_047443271.1:c.437G>A, XM_047443272.1:c.122G>A, XM_047443273.1:c.437G>A, NM_152382.1:c.-53G>A, NP_001034782.1:p.Ser146Asn, XP_047299227.1:p.Ser146Asn, XP_047299228.1:p.Ser41Asn, XP_047299229.1:p.Ser146Asn

Select item 144418652816.

rs1444186528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:199955433 (GRCh38)
2:200820156 (GRCh37)
Canonical SPDI:: NC_000002.12:199955432:C:T
Gene:: MAIP1 (Varview), TYW5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.199955433C>T, NC_000002.11:g.200820156C>T, NG_082783.1:g.399C>T, NM_001039693.3:c.38G>A, NM_001039693.2:c.38G>A, NR_004862.2:n.59G>A, NR_004862.1:n.304G>A, NR_109906.2:n.59G>A, NR_109906.1:n.304G>A, NR_109907.2:n.59G>A, NR_109907.1:n.304G>A, NR_109905.2:n.59G>A, NR_109905.1:n.304G>A, XM_047443271.1:c.38G>A, XM_047443273.1:c.38G>A, NM_152382.1:c.-297G>A, NP_001034782.1:p.Gly13Asp, XP_047299227.1:p.Gly13Asp, XP_047299229.1:p.Gly13Asp

Select item 143898091217.

rs1438980912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:199939023 (GRCh38)
2:200803746 (GRCh37)
Canonical SPDI:: NC_000002.12:199939022:A:C
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.199939023A>C, NC_000002.11:g.200803746A>C, NM_001039693.3:c.396T>G, NM_001039693.2:c.396T>G, NR_004862.2:n.398T>G, NR_004862.1:n.643T>G, NR_109906.2:n.398T>G, NR_109906.1:n.643T>G, NR_109907.2:n.262T>G, NR_109907.1:n.507T>G, XM_047443271.1:c.396T>G, XM_047443272.1:c.81T>G, XM_047443273.1:c.396T>G, NM_152382.1:c.-94T>G, NP_001034782.1:p.Ile132Met, XP_047299227.1:p.Ile132Met, XP_047299228.1:p.Ile27Met, XP_047299229.1:p.Ile132Met

Select item 143860458818.

rs1438604588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:199936445 (GRCh38)
2:200801168 (GRCh37)
Canonical SPDI:: NC_000002.12:199936444:T:C
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.199936445T>C, NC_000002.11:g.200801168T>C, NM_001039693.3:c.534A>G, NM_001039693.2:c.534A>G, NR_004862.2:n.536A>G, NR_004862.1:n.781A>G, NR_109907.2:n.400A>G, NR_109907.1:n.645A>G, XM_047443271.1:c.534A>G, XM_047443272.1:c.219A>G, NM_152382.1:c.45A>G

Select item 143184295819.

rs1431842958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:199943777 (GRCh38)
2:200808500 (GRCh37)
Canonical SPDI:: NC_000002.12:199943776:G:A,NC_000002.12:199943776:G:C,NC_000002.12:199943776:G:T
Gene:: TYW5 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.199943777G>A, NC_000002.12:g.199943777G>C, NC_000002.12:g.199943777G>T, NC_000002.11:g.200808500G>A, NC_000002.11:g.200808500G>C, NC_000002.11:g.200808500G>T, NM_001039693.3:c.291C>T, NM_001039693.3:c.291C>G, NM_001039693.3:c.291C>A, NM_001039693.2:c.291C>T, NM_001039693.2:c.291C>G, NM_001039693.2:c.291C>A, NR_004862.2:n.293C>T, NR_004862.2:n.293C>G, NR_004862.2:n.293C>A, NR_004862.1:n.538C>T, NR_004862.1:n.538C>G, NR_004862.1:n.538C>A, NR_109906.2:n.293C>T, NR_109906.2:n.293C>G, NR_109906.2:n.293C>A, NR_109906.1:n.538C>T, NR_109906.1:n.538C>G, NR_109906.1:n.538C>A, NR_109907.2:n.157C>T, NR_109907.2:n.157C>G, NR_109907.2:n.157C>A, NR_109907.1:n.402C>T, NR_109907.1:n.402C>G, NR_109907.1:n.402C>A, NR_109905.2:n.312C>T, NR_109905.2:n.312C>G, NR_109905.2:n.312C>A, NR_109905.1:n.557C>T, NR_109905.1:n.557C>G, NR_109905.1:n.557C>A, XM_047443271.1:c.291C>T, XM_047443271.1:c.291C>G, XM_047443271.1:c.291C>A, XM_047443273.1:c.291C>T, XM_047443273.1:c.291C>G, XM_047443273.1:c.291C>A, NM_152382.1:c.-199C>T, NM_152382.1:c.-199C>G, NM_152382.1:c.-199C>A, NP_001034782.1:p.Phe97Leu, NP_001034782.1:p.Phe97Leu, XP_047299227.1:p.Phe97Leu, XP_047299227.1:p.Phe97Leu, XP_047299229.1:p.Phe97Leu, XP_047299229.1:p.Phe97Leu

Select item 142810921520.

rs1428109215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:199940111 (GRCh38)
2:200804834 (GRCh37)
Canonical SPDI:: NC_000002.12:199940110:G:T
Gene:: TYW5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.199940111G>T, NC_000002.11:g.200804834G>T, NM_001039693.3:c.326C>A, NM_001039693.2:c.326C>A, NR_004862.2:n.328C>A, NR_004862.1:n.573C>A, NR_109906.2:n.328C>A, NR_109906.1:n.573C>A, NR_109907.2:n.192C>A, NR_109907.1:n.437C>A, XM_047443271.1:c.326C>A, XM_047443273.1:c.326C>A, NM_152382.1:c.-164C>A, NP_001034782.1:p.Ser109Ter, XP_047299227.1:p.Ser109Ter, XP_047299229.1:p.Ser109Ter

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