SNP Links for Protein (Select 806638628) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 1205

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Select item 14909639401.

rs1490963940 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:219615317 (GRCh38)
2:220480039 (GRCh37)
Canonical SPDI:: NC_000002.12:219615316:C:
Gene:: STK11IP (Varview)
Functional Consequence:: downstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219615317del, NC_000002.11:g.220480039del, NM_052902.4:c.3093del, NM_052902.3:c.3093del, NM_052902.2:c.3126del, XM_011510527.4:c.3093del, XM_011510527.3:c.3093del, XM_011510527.2:c.3093del, XM_011510527.1:c.3093del, XM_011510528.3:c.2028del, XM_011510528.2:c.2028del, XM_011510528.1:c.2028del, XM_011510526.2:c.3093del, XM_011510526.1:c.3093del, NP_443134.3:p.Leu1032fs, XP_011508829.1:p.Leu1032fs, XP_011508830.1:p.Leu677fs, XP_011508828.1:p.Leu1032fs

Select item 14907640792.

rs1490764079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219605640 (GRCh38)
2:220470362 (GRCh37)
Canonical SPDI:: NC_000002.12:219605639:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_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_000002.12:g.219605640C>T, NC_000002.11:g.220470362C>T, NG_082839.1:g.679C>T, NM_052902.4:c.651C>T, NM_052902.3:c.651C>T, NM_052902.2:c.684C>T, XM_011510527.4:c.651C>T, XM_011510527.3:c.651C>T, XM_011510527.2:c.651C>T, XM_011510527.1:c.651C>T, XR_922834.3:n.744C>T, XR_922834.2:n.730C>T, XR_922834.1:n.730C>T, XR_922835.3:n.744C>T, XR_922835.2:n.730C>T, XR_922835.1:n.730C>T, XM_011510526.2:c.651C>T, XM_011510526.1:c.651C>T, XM_011510529.2:c.651C>T, XM_011510529.1:c.651C>T, XM_047443102.1:c.651C>T, XM_047443104.1:c.651C>T

Select item 14903360203.

rs1490336020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219615279 (GRCh38)
2:220480001 (GRCh37)
Canonical SPDI:: NC_000002.12:219615278:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219615279C>T, NC_000002.11:g.220480001C>T, NM_052902.4:c.3055C>T, NM_052902.3:c.3055C>T, NM_052902.2:c.3088C>T, XM_011510527.4:c.3055C>T, XM_011510527.3:c.3055C>T, XM_011510527.2:c.3055C>T, XM_011510527.1:c.3055C>T, XM_011510528.3:c.1990C>T, XM_011510528.2:c.1990C>T, XM_011510528.1:c.1990C>T, XM_011510526.2:c.3055C>T, XM_011510526.1:c.3055C>T

Select item 14902750544.

rs1490275054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219606021 (GRCh38)
2:220470743 (GRCh37)
Canonical SPDI:: NC_000002.12:219606020:G:A
Gene:: STK11IP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219606021G>A, NC_000002.11:g.220470743G>A, NG_082839.1:g.1060G>A, NM_052902.4:c.811G>A, NM_052902.3:c.811G>A, NM_052902.2:c.844G>A, XM_011510527.4:c.811G>A, XM_011510527.3:c.811G>A, XM_011510527.2:c.811G>A, XM_011510527.1:c.811G>A, XR_922834.3:n.904G>A, XR_922834.2:n.890G>A, XR_922834.1:n.890G>A, XR_922835.3:n.904G>A, XR_922835.2:n.890G>A, XR_922835.1:n.890G>A, XM_011510526.2:c.811G>A, XM_011510526.1:c.811G>A, XM_011510529.2:c.811G>A, XM_011510529.1:c.811G>A, XM_047443102.1:c.811G>A, XM_047443104.1:c.811G>A, NP_443134.3:p.Glu271Lys, XP_011508829.1:p.Glu271Lys, XP_011508828.1:p.Glu271Lys, XP_011508831.1:p.Glu271Lys, XP_047299058.1:p.Glu271Lys, XP_047299060.1:p.Glu271Lys

Select item 14882330525.

rs1488233052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219602525 (GRCh38)
2:220467247 (GRCh37)
Canonical SPDI:: NC_000002.12:219602524:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,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_000002.12:g.219602525C>T, NC_000002.11:g.220467247C>T, NM_052902.4:c.496C>T, NM_052902.3:c.496C>T, NM_052902.2:c.529C>T, XM_011510527.4:c.496C>T, XM_011510527.3:c.496C>T, XM_011510527.2:c.496C>T, XM_011510527.1:c.496C>T, XR_922834.3:n.589C>T, XR_922834.2:n.575C>T, XR_922834.1:n.575C>T, XR_922835.3:n.589C>T, XR_922835.2:n.575C>T, XR_922835.1:n.575C>T, XM_011510526.2:c.496C>T, XM_011510526.1:c.496C>T, XM_011510529.2:c.496C>T, XM_011510529.1:c.496C>T, XM_047443102.1:c.496C>T, XM_047443104.1:c.496C>T, NP_443134.3:p.Leu166Phe, XP_011508829.1:p.Leu166Phe, XP_011508828.1:p.Leu166Phe, XP_011508831.1:p.Leu166Phe, XP_047299058.1:p.Leu166Phe, XP_047299060.1:p.Leu166Phe

Select item 14876096476.

rs1487609647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219616187 (GRCh38)
2:220480909 (GRCh37)
Canonical SPDI:: NC_000002.12:219616186:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.219616187C>T, NC_000002.11:g.220480909C>T, NM_052902.4:c.3261C>T, NM_052902.3:c.3261C>T, NM_052902.2:c.3294C>T, XM_011510528.3:c.2196C>T, XM_011510528.2:c.2196C>T, XM_011510528.1:c.2196C>T, XM_011510526.2:c.*397C>T

Select item 14875628847.

rs1487562884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219602503 (GRCh38)
2:220467225 (GRCh37)
Canonical SPDI:: NC_000002.12:219602502:T:C
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.219602503T>C, NC_000002.11:g.220467225T>C, NM_052902.4:c.474T>C, NM_052902.3:c.474T>C, NM_052902.2:c.507T>C, XM_011510527.4:c.474T>C, XM_011510527.3:c.474T>C, XM_011510527.2:c.474T>C, XM_011510527.1:c.474T>C, XR_922834.3:n.567T>C, XR_922834.2:n.553T>C, XR_922834.1:n.553T>C, XR_922835.3:n.567T>C, XR_922835.2:n.553T>C, XR_922835.1:n.553T>C, XM_011510526.2:c.474T>C, XM_011510526.1:c.474T>C, XM_011510529.2:c.474T>C, XM_011510529.1:c.474T>C, XM_047443102.1:c.474T>C, XM_047443104.1:c.474T>C

Select item 14875531528.

rs1487553152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219601380 (GRCh38)
2:220466102 (GRCh37)
Canonical SPDI:: NC_000002.12:219601379:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_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_000002.12:g.219601380C>T, NC_000002.11:g.220466102C>T, NM_052902.4:c.207C>T, NM_052902.3:c.207C>T, NM_052902.2:c.240C>T, XM_011510527.4:c.207C>T, XM_011510527.3:c.207C>T, XM_011510527.2:c.207C>T, XM_011510527.1:c.207C>T, XR_922834.3:n.300C>T, XR_922834.2:n.286C>T, XR_922834.1:n.286C>T, XR_922835.3:n.300C>T, XR_922835.2:n.286C>T, XR_922835.1:n.286C>T, XM_011510526.2:c.207C>T, XM_011510526.1:c.207C>T, XM_011510529.2:c.207C>T, XM_011510529.1:c.207C>T, XM_047443102.1:c.207C>T, XM_047443104.1:c.207C>T

Select item 14875160469.

rs1487516046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219607080 (GRCh38)
2:220471802 (GRCh37)
Canonical SPDI:: NC_000002.12:219607079:A:G
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.219607080A>G, NC_000002.11:g.220471802A>G, NM_052902.4:c.1162A>G, NM_052902.3:c.1162A>G, NM_052902.2:c.1195A>G, XM_011510527.4:c.1162A>G, XM_011510527.3:c.1162A>G, XM_011510527.2:c.1162A>G, XM_011510527.1:c.1162A>G, XR_922834.3:n.1255A>G, XR_922834.2:n.1241A>G, XR_922834.1:n.1241A>G, XM_011510528.3:c.97A>G, XM_011510528.2:c.97A>G, XM_011510528.1:c.97A>G, XR_922835.3:n.1255A>G, XR_922835.2:n.1241A>G, XR_922835.1:n.1241A>G, XM_011510526.2:c.1162A>G, XM_011510526.1:c.1162A>G, XM_011510529.2:c.1162A>G, XM_011510529.1:c.1162A>G, XM_047443102.1:c.1162A>G, XM_047443104.1:c.1162A>G, NP_443134.3:p.Ile388Val, XP_011508829.1:p.Ile388Val, XP_011508830.1:p.Ile33Val, XP_011508828.1:p.Ile388Val, XP_011508831.1:p.Ile388Val, XP_047299058.1:p.Ile388Val, XP_047299060.1:p.Ile388Val

Select item 148716201610.

rs1487162016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219601997 (GRCh38)
2:220466719 (GRCh37)
Canonical SPDI:: NC_000002.12:219601996:G:T
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.219601997G>T, NC_000002.11:g.220466719G>T, NM_052902.4:c.352G>T, NM_052902.3:c.352G>T, NM_052902.2:c.385G>T, XM_011510527.4:c.352G>T, XM_011510527.3:c.352G>T, XM_011510527.2:c.352G>T, XM_011510527.1:c.352G>T, XR_922834.3:n.445G>T, XR_922834.2:n.431G>T, XR_922834.1:n.431G>T, XR_922835.3:n.445G>T, XR_922835.2:n.431G>T, XR_922835.1:n.431G>T, XM_011510526.2:c.352G>T, XM_011510526.1:c.352G>T, XM_011510529.2:c.352G>T, XM_011510529.1:c.352G>T, XM_047443102.1:c.352G>T, XM_047443104.1:c.352G>T, NP_443134.3:p.Val118Phe, XP_011508829.1:p.Val118Phe, XP_011508828.1:p.Val118Phe, XP_011508831.1:p.Val118Phe, XP_047299058.1:p.Val118Phe, XP_047299060.1:p.Val118Phe

Select item 148614534411.

rs1486145344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219608341 (GRCh38)
2:220473063 (GRCh37)
Canonical SPDI:: NC_000002.12:219608340:A:G
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219608341A>G, NC_000002.11:g.220473063A>G, NM_052902.4:c.1514A>G, NM_052902.3:c.1514A>G, NM_052902.2:c.1547A>G, XM_011510527.4:c.1514A>G, XM_011510527.3:c.1514A>G, XM_011510527.2:c.1514A>G, XM_011510527.1:c.1514A>G, XR_922834.3:n.1607A>G, XR_922834.2:n.1593A>G, XR_922834.1:n.1593A>G, XM_011510528.3:c.449A>G, XM_011510528.2:c.449A>G, XM_011510528.1:c.449A>G, XR_922835.3:n.1607A>G, XR_922835.2:n.1593A>G, XR_922835.1:n.1593A>G, XM_011510526.2:c.1514A>G, XM_011510526.1:c.1514A>G, XM_011510529.2:c.1514A>G, XM_011510529.1:c.1514A>G, XM_047443102.1:c.1514A>G, XM_047443104.1:c.1514A>G, NP_443134.3:p.Glu505Gly, XP_011508829.1:p.Glu505Gly, XP_011508830.1:p.Glu150Gly, XP_011508828.1:p.Glu505Gly, XP_011508831.1:p.Glu505Gly, XP_047299058.1:p.Glu505Gly, XP_047299060.1:p.Glu505Gly

Select item 148603397112.

rs1486033971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219609197 (GRCh38)
2:220473919 (GRCh37)
Canonical SPDI:: NC_000002.12:219609196:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219609197C>T, NC_000002.11:g.220473919C>T, NM_052902.4:c.1910C>T, NM_052902.3:c.1910C>T, NM_052902.2:c.1943C>T, XM_011510527.4:c.1910C>T, XM_011510527.3:c.1910C>T, XM_011510527.2:c.1910C>T, XM_011510527.1:c.1910C>T, XR_922834.3:n.2003C>T, XR_922834.2:n.1989C>T, XR_922834.1:n.1989C>T, XM_011510528.3:c.845C>T, XM_011510528.2:c.845C>T, XM_011510528.1:c.845C>T, XR_922835.3:n.2003C>T, XR_922835.2:n.1989C>T, XR_922835.1:n.1989C>T, XM_011510526.2:c.1910C>T, XM_011510526.1:c.1910C>T, XM_011510529.2:c.1910C>T, XM_011510529.1:c.1910C>T, XM_047443102.1:c.1910C>T, XM_047443104.1:c.1910C>T, NP_443134.3:p.Ala637Val, XP_011508829.1:p.Ala637Val, XP_011508830.1:p.Ala282Val, XP_011508828.1:p.Ala637Val, XP_011508831.1:p.Ala637Val, XP_047299058.1:p.Ala637Val, XP_047299060.1:p.Ala637Val

Select item 148514416413.

rs1485144164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219615181 (GRCh38)
2:220479903 (GRCh37)
Canonical SPDI:: NC_000002.12:219615180:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_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_000002.12:g.219615181C>T, NC_000002.11:g.220479903C>T, NM_052902.4:c.2957C>T, NM_052902.3:c.2957C>T, NM_052902.2:c.2990C>T, XM_011510527.4:c.2957C>T, XM_011510527.3:c.2957C>T, XM_011510527.2:c.2957C>T, XM_011510527.1:c.2957C>T, XM_011510528.3:c.1892C>T, XM_011510528.2:c.1892C>T, XM_011510528.1:c.1892C>T, XM_011510526.2:c.2957C>T, XM_011510526.1:c.2957C>T, XM_047443102.1:c.*55C>T, NP_443134.3:p.Pro986Leu, XP_011508829.1:p.Pro986Leu, XP_011508830.1:p.Pro631Leu, XP_011508828.1:p.Pro986Leu

Select item 148458156614.

rs1484581566 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 2:219608318 (GRCh38)
2:220473040 (GRCh37)
Canonical SPDI:: NC_000002.12:219608310:AGGAGGAGGA:AGGAGGA
Gene:: STK11IP (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AGGAGGA=0./0 (ALFA)
HGVS:: NC_000002.12:g.219608312GGA[2], NC_000002.11:g.220473034GGA[2], NM_052902.4:c.1485GGA[2], NM_052902.3:c.1485GGA[2], NM_052902.2:c.1518GGA[2], XM_011510527.4:c.1485GGA[2], XM_011510527.3:c.1485GGA[2], XM_011510527.2:c.1485GGA[2], XM_011510527.1:c.1485GGA[2], XR_922834.3:n.1578GGA[2], XR_922834.2:n.1564GGA[2], XR_922834.1:n.1564GGA[2], XM_011510528.3:c.420GGA[2], XM_011510528.2:c.420GGA[2], XM_011510528.1:c.420GGA[2], XR_922835.3:n.1578GGA[2], XR_922835.2:n.1564GGA[2], XR_922835.1:n.1564GGA[2], XM_011510526.2:c.1485GGA[2], XM_011510526.1:c.1485GGA[2], XM_011510529.2:c.1485GGA[2], XM_011510529.1:c.1485GGA[2], XM_047443102.1:c.1485GGA[2], XM_047443104.1:c.1485GGA[2], NP_443134.3:p.Glu500del, XP_011508829.1:p.Glu500del, XP_011508830.1:p.Glu145del, XP_011508828.1:p.Glu500del, XP_011508831.1:p.Glu500del, XP_047299058.1:p.Glu500del, XP_047299060.1:p.Glu500del

Select item 148442852415.

rs1484428524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219601245 (GRCh38)
2:220465967 (GRCh37)
Canonical SPDI:: NC_000002.12:219601244:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.219601245C>T, NC_000002.11:g.220465967C>T, NM_052902.4:c.72C>T, NM_052902.3:c.72C>T, NM_052902.2:c.105C>T, XM_011510527.4:c.72C>T, XM_011510527.3:c.72C>T, XM_011510527.2:c.72C>T, XM_011510527.1:c.72C>T, XR_922834.3:n.165C>T, XR_922834.2:n.151C>T, XR_922834.1:n.151C>T, XR_922835.3:n.165C>T, XR_922835.2:n.151C>T, XR_922835.1:n.151C>T, XM_011510526.2:c.72C>T, XM_011510526.1:c.72C>T, XM_011510529.2:c.72C>T, XM_011510529.1:c.72C>T, XM_047443102.1:c.72C>T, XM_047443104.1:c.72C>T

Select item 148382704616.

rs1483827046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219606843 (GRCh38)
2:220471565 (GRCh37)
Canonical SPDI:: NC_000002.12:219606842:G:T
Gene:: STK11IP (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219606843G>T, NC_000002.11:g.220471565G>T, NM_052902.4:c.1119G>T, NM_052902.3:c.1119G>T, NM_052902.2:c.1152G>T, XM_011510527.4:c.1119G>T, XM_011510527.3:c.1119G>T, XM_011510527.2:c.1119G>T, XM_011510527.1:c.1119G>T, XR_922834.3:n.1212G>T, XR_922834.2:n.1198G>T, XR_922834.1:n.1198G>T, XM_011510528.3:c.-21G>T, XM_011510528.2:c.-21G>T, XM_011510528.1:c.-21G>T, XR_922835.3:n.1212G>T, XR_922835.2:n.1198G>T, XR_922835.1:n.1198G>T, XM_011510526.2:c.1119G>T, XM_011510526.1:c.1119G>T, XM_011510529.2:c.1119G>T, XM_011510529.1:c.1119G>T, XM_047443102.1:c.1119G>T, XM_047443104.1:c.1119G>T

Select item 148375891517.

rs1483758915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219606053 (GRCh38)
2:220470775 (GRCh37)
Canonical SPDI:: NC_000002.12:219606052:C:T
Gene:: STK11IP (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_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_000002.12:g.219606053C>T, NC_000002.11:g.220470775C>T, NG_082839.1:g.1092C>T, NM_052902.4:c.843C>T, NM_052902.3:c.843C>T, NM_052902.2:c.876C>T, XM_011510527.4:c.843C>T, XM_011510527.3:c.843C>T, XM_011510527.2:c.843C>T, XM_011510527.1:c.843C>T, XR_922834.3:n.936C>T, XR_922834.2:n.922C>T, XR_922834.1:n.922C>T, XR_922835.3:n.936C>T, XR_922835.2:n.922C>T, XR_922835.1:n.922C>T, XM_011510526.2:c.843C>T, XM_011510526.1:c.843C>T, XM_011510529.2:c.843C>T, XM_011510529.1:c.843C>T, XM_047443102.1:c.843C>T, XM_047443104.1:c.843C>T

Select item 148289478818.

rs1482894788 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGTCGCCCAGGCCCA>-,GAGGTCGCCCAGGCCCAGAGGTCGCCCAGGCCCA [Show Flanks]
Chromosome:: 2:219608770 (GRCh38)
2:220473492 (GRCh37)
Canonical SPDI:: NC_000002.12:219608758:GCCCAGGCCCAGAGGTCGCCCAGGCCCA:GCCCAGGCCCA,NC_000002.12:219608758:GCCCAGGCCCAGAGGTCGCCCAGGCCCA:GCCCAGGCCCAGAGGTCGCCCAGGCCCAGAGGTCGCCCAGGCCCA
Gene:: STK11IP (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCAGGCCCA=0./0 (ALFA)
GCCCAGGCCCAGAGGTC=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219608770_219608786del, NC_000002.12:g.219608770_219608786dup, NC_000002.11:g.220473492_220473508del, NC_000002.11:g.220473492_220473508dup, NM_052902.4:c.1791_1807del, NM_052902.4:c.1791_1807dup, NM_052902.3:c.1791_1807del, NM_052902.3:c.1791_1807dup, NM_052902.2:c.1824_1840del, NM_052902.2:c.1824_1840dup, XM_011510527.4:c.1791_1807del, XM_011510527.4:c.1791_1807dup, XM_011510527.3:c.1791_1807del, XM_011510527.3:c.1791_1807dup, XM_011510527.2:c.1791_1807del, XM_011510527.2:c.1791_1807dup, XM_011510527.1:c.1791_1807del, XM_011510527.1:c.1791_1807dup, XR_922834.3:n.1884_1900del, XR_922834.3:n.1884_1900dup, XR_922834.2:n.1870_1886del, XR_922834.2:n.1870_1886dup, XR_922834.1:n.1870_1886del, XR_922834.1:n.1870_1886dup, XM_011510528.3:c.726_742del, XM_011510528.3:c.726_742dup, XM_011510528.2:c.726_742del, XM_011510528.2:c.726_742dup, XM_011510528.1:c.726_742del, XM_011510528.1:c.726_742dup, XR_922835.3:n.1884_1900del, XR_922835.3:n.1884_1900dup, XR_922835.2:n.1870_1886del, XR_922835.2:n.1870_1886dup, XR_922835.1:n.1870_1886del, XR_922835.1:n.1870_1886dup, XM_011510526.2:c.1791_1807del, XM_011510526.2:c.1791_1807dup, XM_011510526.1:c.1791_1807del, XM_011510526.1:c.1791_1807dup, XM_011510529.2:c.1791_1807del, XM_011510529.2:c.1791_1807dup, XM_011510529.1:c.1791_1807del, XM_011510529.1:c.1791_1807dup, XM_047443102.1:c.1791_1807del, XM_047443102.1:c.1791_1807dup, XM_047443104.1:c.1791_1807del, XM_047443104.1:c.1791_1807dup, NP_443134.3:p.Gln597fs, NP_443134.3:p.Thr603fs, XP_011508829.1:p.Gln597fs, XP_011508829.1:p.Thr603fs, XP_011508830.1:p.Gln242fs, XP_011508830.1:p.Thr248fs, XP_011508828.1:p.Gln597fs, XP_011508828.1:p.Thr603fs, XP_011508831.1:p.Gln597fs, XP_011508831.1:p.Thr603fs, XP_047299058.1:p.Gln597fs, XP_047299058.1:p.Thr603fs, XP_047299060.1:p.Gln597fs, XP_047299060.1:p.Thr603fs

Select item 148234529519.

rs1482345295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219611662 (GRCh38)
2:220476384 (GRCh37)
Canonical SPDI:: NC_000002.12:219611661:T:C
Gene:: STK11IP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_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.219611662T>C, NC_000002.11:g.220476384T>C, NM_052902.4:c.2163T>C, NM_052902.3:c.2163T>C, NM_052902.2:c.2196T>C, XM_011510527.4:c.2163T>C, XM_011510527.3:c.2163T>C, XM_011510527.2:c.2163T>C, XM_011510527.1:c.2163T>C, XR_922834.3:n.2256T>C, XR_922834.2:n.2242T>C, XR_922834.1:n.2242T>C, XM_011510528.3:c.1098T>C, XM_011510528.2:c.1098T>C, XM_011510528.1:c.1098T>C, XR_922835.3:n.2365T>C, XR_922835.2:n.2351T>C, XR_922835.1:n.2351T>C, XM_011510526.2:c.2163T>C, XM_011510526.1:c.2163T>C, XM_047443102.1:c.2163T>C

Select item 148229333920.

rs1482293339 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTG>- [Show Flanks]
Chromosome:: 2:219608117 (GRCh38)
2:220472839 (GRCh37)
Canonical SPDI:: NC_000002.12:219608113:CTGGCTG:CTG
Gene:: STK11IP (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219608117_219608120del, NC_000002.11:g.220472839_220472842del, NM_052902.4:c.1290_1293del, NM_052902.3:c.1290_1293del, NM_052902.2:c.1323_1326del, XM_011510527.4:c.1290_1293del, XM_011510527.3:c.1290_1293del, XM_011510527.2:c.1290_1293del, XM_011510527.1:c.1290_1293del, XR_922834.3:n.1383_1386del, XR_922834.2:n.1369_1372del, XR_922834.1:n.1369_1372del, XM_011510528.3:c.225_228del, XM_011510528.2:c.225_228del, XM_011510528.1:c.225_228del, XR_922835.3:n.1383_1386del, XR_922835.2:n.1369_1372del, XR_922835.1:n.1369_1372del, XM_011510526.2:c.1290_1293del, XM_011510526.1:c.1290_1293del, XM_011510529.2:c.1290_1293del, XM_011510529.1:c.1290_1293del, XM_047443102.1:c.1290_1293del, XM_047443104.1:c.1290_1293del, NP_443134.3:p.Trp430fs, XP_011508829.1:p.Trp430fs, XP_011508830.1:p.Trp75fs, XP_011508828.1:p.Trp430fs, XP_011508831.1:p.Trp430fs, XP_047299058.1:p.Trp430fs, XP_047299060.1:p.Trp430fs

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