SNP Links for Protein (Select 767916843) - SNP

Links from Protein

Items: 1 to 20 of 640

<< First< Prev

Page of 32

Next >Last >>

Select item 14904172931.

rs1490417293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:94871921 (GRCh38)
2:95537666 (GRCh37)
Canonical SPDI:: NC_000002.12:94871920:G:A,NC_000002.12:94871920:G:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000106/2 (TOMMO)
A=0.000343/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.94871921G>A, NC_000002.12:g.94871921G>T, NC_000002.11:g.95537666G>A, NC_000002.11:g.95537666G>T, NW_003571032.1:g.309497G>A, NW_003571032.1:g.309497G>T, NM_144705.4:c.342G>A, NM_144705.4:c.342G>T, NM_144705.3:c.342G>A, NM_144705.3:c.342G>T, NM_144705.2:c.342G>A, NM_144705.2:c.342G>T, XM_005263876.4:c.342G>A, XM_005263876.4:c.342G>T, XM_005263876.3:c.342G>A, XM_005263876.3:c.342G>T, XM_005263876.2:c.342G>A, XM_005263876.2:c.342G>T, XM_005263876.1:c.342G>A, XM_005263876.1:c.342G>T, XM_011510670.3:c.342G>A, XM_011510670.3:c.342G>T, XM_011510670.2:c.342G>A, XM_011510670.2:c.342G>T, XM_011510670.1:c.342G>A, XM_011510670.1:c.342G>T, NM_001286559.2:c.-908G>A, NM_001286559.2:c.-908G>T, NM_001286559.1:c.-908G>A, NM_001286559.1:c.-908G>T

Select item 14861188192.

rs1486118819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:94871588 (GRCh38)
2:95537333 (GRCh37)
Canonical SPDI:: NC_000002.12:94871587:G:A,NC_000002.12:94871587:G:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.94871588G>A, NC_000002.12:g.94871588G>C, NC_000002.11:g.95537333G>A, NC_000002.11:g.95537333G>C, NW_003571032.1:g.309164G>A, NW_003571032.1:g.309164G>C, NM_144705.4:c.9G>A, NM_144705.4:c.9G>C, NM_144705.3:c.9G>A, NM_144705.3:c.9G>C, NM_144705.2:c.9G>A, NM_144705.2:c.9G>C, XM_005263876.4:c.9G>A, XM_005263876.4:c.9G>C, XM_005263876.3:c.9G>A, XM_005263876.3:c.9G>C, XM_005263876.2:c.9G>A, XM_005263876.2:c.9G>C, XM_005263876.1:c.9G>A, XM_005263876.1:c.9G>C, XM_011510670.3:c.9G>A, XM_011510670.3:c.9G>C, XM_011510670.2:c.9G>A, XM_011510670.2:c.9G>C, XM_011510670.1:c.9G>A, XM_011510670.1:c.9G>C, NM_001286559.2:c.-1241G>A, NM_001286559.2:c.-1241G>C, NM_001286559.1:c.-1241G>A, NM_001286559.1:c.-1241G>C, NP_653306.1:p.Gln3His, XP_005263933.1:p.Gln3His, XP_011508972.1:p.Gln3His

Select item 14834434483.

rs1483443448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:94875646 (GRCh38)
2:95541391 (GRCh37)
Canonical SPDI:: NC_000002.12:94875645:A:G,NC_000002.12:94875645:A:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.94875646A>G, NC_000002.12:g.94875646A>T, NC_000002.11:g.95541391A>G, NC_000002.11:g.95541391A>T, NW_003571032.1:g.313222A>G, NW_003571032.1:g.313222A>T, NM_144705.4:c.995A>G, NM_144705.4:c.995A>T, NM_144705.3:c.995A>G, NM_144705.3:c.995A>T, NM_144705.2:c.995A>G, NM_144705.2:c.995A>T, XM_011510670.3:c.1118A>G, XM_011510670.3:c.1118A>T, XM_011510670.2:c.1118A>G, XM_011510670.2:c.1118A>T, XM_011510670.1:c.1118A>G, XM_011510670.1:c.1118A>T, NM_001286559.2:c.449A>G, NM_001286559.2:c.449A>T, NM_001286559.1:c.449A>G, NM_001286559.1:c.449A>T, NP_653306.1:p.Lys332Arg, NP_653306.1:p.Lys332Met, XP_011508972.1:p.Lys373Arg, XP_011508972.1:p.Lys373Met, NP_001273488.1:p.Lys150Arg, NP_001273488.1:p.Lys150Met

Select item 14813766264.

rs1481376626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:94871971 (GRCh38)
2:95537716 (GRCh37)
Canonical SPDI:: NC_000002.12:94871970:A:G
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.94871971A>G, NC_000002.11:g.95537716A>G, NW_003571032.1:g.309547A>G, NM_144705.4:c.392A>G, NM_144705.3:c.392A>G, NM_144705.2:c.392A>G, XM_005263876.4:c.392A>G, XM_005263876.3:c.392A>G, XM_005263876.2:c.392A>G, XM_005263876.1:c.392A>G, XM_011510670.3:c.392A>G, XM_011510670.2:c.392A>G, XM_011510670.1:c.392A>G, NM_001286559.2:c.-858A>G, NM_001286559.1:c.-858A>G, NP_653306.1:p.Asp131Gly, XP_005263933.1:p.Asp131Gly, XP_011508972.1:p.Asp131Gly

Select item 14810442185.

rs1481044218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:94876634 (GRCh38)
2:95542379 (GRCh37)
Canonical SPDI:: NC_000002.12:94876633:C:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000064/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.94876634C>A, NC_000002.11:g.95542379C>A, NW_003571032.1:g.314210C>A, NM_144705.4:c.1173C>A, NM_144705.3:c.1173C>A, NM_144705.2:c.1173C>A, XM_005263876.4:c.*70C>A, XM_005263876.3:c.*70C>A, XM_005263876.2:c.*70C>A, XM_005263876.1:c.*70C>A, XM_011510670.3:c.1296C>A, XM_011510670.2:c.1296C>A, XM_011510670.1:c.1296C>A, NM_001286559.2:c.627C>A, NM_001286559.1:c.627C>A

Select item 14807317906.

rs1480731790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:94874061 (GRCh38)
2:95539806 (GRCh37)
Canonical SPDI:: NC_000002.12:94874060:G:A,NC_000002.12:94874060:G:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.94874061G>A, NC_000002.12:g.94874061G>C, NC_000002.11:g.95539806G>A, NC_000002.11:g.95539806G>C, NW_003571032.1:g.311637G>A, NW_003571032.1:g.311637G>C, NM_144705.4:c.666G>A, NM_144705.4:c.666G>C, NM_144705.3:c.666G>A, NM_144705.3:c.666G>C, NM_144705.2:c.666G>A, NM_144705.2:c.666G>C, XM_005263876.4:c.666G>A, XM_005263876.4:c.666G>C, XM_005263876.3:c.666G>A, XM_005263876.3:c.666G>C, XM_005263876.2:c.666G>A, XM_005263876.2:c.666G>C, XM_005263876.1:c.666G>A, XM_005263876.1:c.666G>C, XM_011510670.3:c.666G>A, XM_011510670.3:c.666G>C, XM_011510670.2:c.666G>A, XM_011510670.2:c.666G>C, XM_011510670.1:c.666G>A, XM_011510670.1:c.666G>C, NM_001286559.2:c.120G>A, NM_001286559.2:c.120G>C, NM_001286559.1:c.120G>A, NM_001286559.1:c.120G>C, NP_653306.1:p.Gln222His, XP_005263933.1:p.Gln222His, XP_011508972.1:p.Gln222His, NP_001273488.1:p.Gln40His

Select item 14766930937.

rs1476693093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94871863 (GRCh38)
2:95537608 (GRCh37)
Canonical SPDI:: NC_000002.12:94871862:T:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_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.94871863T>C, NC_000002.11:g.95537608T>C, NW_003571032.1:g.309439T>C, NM_144705.4:c.284T>C, NM_144705.3:c.284T>C, NM_144705.2:c.284T>C, XM_005263876.4:c.284T>C, XM_005263876.3:c.284T>C, XM_005263876.2:c.284T>C, XM_005263876.1:c.284T>C, XM_011510670.3:c.284T>C, XM_011510670.2:c.284T>C, XM_011510670.1:c.284T>C, NM_001286559.2:c.-966T>C, NM_001286559.1:c.-966T>C, NP_653306.1:p.Leu95Pro, XP_005263933.1:p.Leu95Pro, XP_011508972.1:p.Leu95Pro

Select item 14745410478.

rs1474541047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94876555 (GRCh38)
2:95542300 (GRCh37)
Canonical SPDI:: NC_000002.12:94876554:T:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.94876555T>C, NC_000002.11:g.95542300T>C, NW_003571032.1:g.314131T>C, NM_144705.4:c.1094T>C, NM_144705.3:c.1094T>C, NM_144705.2:c.1094T>C, XM_005263876.4:c.939T>C, XM_005263876.3:c.939T>C, XM_005263876.2:c.939T>C, XM_005263876.1:c.939T>C, XM_011510670.3:c.1217T>C, XM_011510670.2:c.1217T>C, XM_011510670.1:c.1217T>C, NM_001286559.2:c.548T>C, NM_001286559.1:c.548T>C, NP_653306.1:p.Leu365Pro, XP_011508972.1:p.Leu406Pro, NP_001273488.1:p.Leu183Pro

Select item 14744409639.

rs1474440963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:94874853 (GRCh38)
2:95540598 (GRCh37)
Canonical SPDI:: NC_000002.12:94874852:C:G
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.94874853C>G, NC_000002.11:g.95540598C>G, NW_003571032.1:g.312429C>G, NM_144705.4:c.791C>G, NM_144705.3:c.791C>G, NM_144705.2:c.791C>G, XM_005263876.4:c.791C>G, XM_005263876.3:c.791C>G, XM_005263876.2:c.791C>G, XM_005263876.1:c.791C>G, XM_011510670.3:c.791C>G, XM_011510670.2:c.791C>G, XM_011510670.1:c.791C>G, NM_001286559.2:c.245C>G, NM_001286559.1:c.245C>G, NP_653306.1:p.Ala264Gly, XP_005263933.1:p.Ala264Gly, XP_011508972.1:p.Ala264Gly, NP_001273488.1:p.Ala82Gly

Select item 147285638210.

rs1472856382 [Homo sapiens]

Variant type:: DEL
Alleles:: CCACTGGTC>- [Show Flanks]
Chromosome:: 2:94875467 (GRCh38)
2:95541212 (GRCh37)
Canonical SPDI:: NC_000002.12:94875466:CCACTGGTC:
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.94875467_94875475del, NC_000002.11:g.95541212_95541220del, NW_003571032.1:g.313043_313051del, XM_011510670.3:c.939_947del, XM_011510670.2:c.939_947del, XM_011510670.1:c.939_947del, XP_011508972.1:p.His314_Ser316del

Select item 147272993111.

rs1472729931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:94873576 (GRCh38)
2:95539321 (GRCh37)
Canonical SPDI:: NC_000002.12:94873575:A:G
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.94873576A>G, NC_000002.11:g.95539321A>G, NW_003571032.1:g.311152A>G, NM_144705.4:c.555A>G, NM_144705.3:c.555A>G, NM_144705.2:c.555A>G, XM_005263876.4:c.555A>G, XM_005263876.3:c.555A>G, XM_005263876.2:c.555A>G, XM_005263876.1:c.555A>G, XM_011510670.3:c.555A>G, XM_011510670.2:c.555A>G, XM_011510670.1:c.555A>G, NM_001286559.2:c.9A>G, NM_001286559.1:c.9A>G

Select item 147091980512.

rs1470919805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:94871730 (GRCh38)
2:95537475 (GRCh37)
Canonical SPDI:: NC_000002.12:94871729:C:G,NC_000002.12:94871729:C:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.94871730C>G, NC_000002.12:g.94871730C>T, NC_000002.11:g.95537475C>G, NC_000002.11:g.95537475C>T, NW_003571032.1:g.309306C>G, NW_003571032.1:g.309306C>T, NM_144705.4:c.151C>G, NM_144705.4:c.151C>T, NM_144705.3:c.151C>G, NM_144705.3:c.151C>T, NM_144705.2:c.151C>G, NM_144705.2:c.151C>T, XM_005263876.4:c.151C>G, XM_005263876.4:c.151C>T, XM_005263876.3:c.151C>G, XM_005263876.3:c.151C>T, XM_005263876.2:c.151C>G, XM_005263876.2:c.151C>T, XM_005263876.1:c.151C>G, XM_005263876.1:c.151C>T, XM_011510670.3:c.151C>G, XM_011510670.3:c.151C>T, XM_011510670.2:c.151C>G, XM_011510670.2:c.151C>T, XM_011510670.1:c.151C>G, XM_011510670.1:c.151C>T, NM_001286559.2:c.-1099C>G, NM_001286559.2:c.-1099C>T, NM_001286559.1:c.-1099C>G, NM_001286559.1:c.-1099C>T, NP_653306.1:p.Arg51Gly, NP_653306.1:p.Arg51Cys, XP_005263933.1:p.Arg51Gly, XP_005263933.1:p.Arg51Cys, XP_011508972.1:p.Arg51Gly, XP_011508972.1:p.Arg51Cys

Select item 147019343913.

rs1470193439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94873986 (GRCh38)
2:95539731 (GRCh37)
Canonical SPDI:: NC_000002.12:94873985:G:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.94873986G>A, NC_000002.11:g.95539731G>A, NW_003571032.1:g.311562G>A, NM_144705.4:c.591G>A, NM_144705.3:c.591G>A, NM_144705.2:c.591G>A, XM_005263876.4:c.591G>A, XM_005263876.3:c.591G>A, XM_005263876.2:c.591G>A, XM_005263876.1:c.591G>A, XM_011510670.3:c.591G>A, XM_011510670.2:c.591G>A, XM_011510670.1:c.591G>A, NM_001286559.2:c.45G>A, NM_001286559.1:c.45G>A

Select item 146991955014.

rs1469919550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:94872027 (GRCh38)
2:95537772 (GRCh37)
Canonical SPDI:: NC_000002.12:94872026:C:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.94872027C>T, NC_000002.11:g.95537772C>T, NW_003571032.1:g.309603C>T, NM_144705.4:c.448C>T, NM_144705.3:c.448C>T, NM_144705.2:c.448C>T, XM_005263876.4:c.448C>T, XM_005263876.3:c.448C>T, XM_005263876.2:c.448C>T, XM_005263876.1:c.448C>T, XM_011510670.3:c.448C>T, XM_011510670.2:c.448C>T, XM_011510670.1:c.448C>T, NM_001286559.2:c.-802C>T, NM_001286559.1:c.-802C>T, NP_653306.1:p.Arg150Cys, XP_005263933.1:p.Arg150Cys, XP_011508972.1:p.Arg150Cys

Select item 146818936315.

rs1468189363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:94876682 (GRCh38)
2:95542427 (GRCh37)
Canonical SPDI:: NC_000002.12:94876681:G:A,NC_000002.12:94876681:G:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.94876682G>A, NC_000002.12:g.94876682G>C, NC_000002.11:g.95542427G>A, NC_000002.11:g.95542427G>C, NW_003571032.1:g.314258G>A, NW_003571032.1:g.314258G>C, NM_144705.4:c.1221G>A, NM_144705.4:c.1221G>C, NM_144705.3:c.1221G>A, NM_144705.3:c.1221G>C, NM_144705.2:c.1221G>A, NM_144705.2:c.1221G>C, XM_005263876.4:c.*118G>A, XM_005263876.4:c.*118G>C, XM_005263876.3:c.*118G>A, XM_005263876.3:c.*118G>C, XM_005263876.2:c.*118G>A, XM_005263876.2:c.*118G>C, XM_005263876.1:c.*118G>A, XM_005263876.1:c.*118G>C, XM_011510670.3:c.1344G>A, XM_011510670.3:c.1344G>C, XM_011510670.2:c.1344G>A, XM_011510670.2:c.1344G>C, XM_011510670.1:c.1344G>A, XM_011510670.1:c.1344G>C, NM_001286559.2:c.675G>A, NM_001286559.2:c.675G>C, NM_001286559.1:c.675G>A, NM_001286559.1:c.675G>C, NP_653306.1:p.Met407Ile, NP_653306.1:p.Met407Ile, XP_011508972.1:p.Met448Ile, XP_011508972.1:p.Met448Ile, NP_001273488.1:p.Met225Ile, NP_001273488.1:p.Met225Ile

Select item 146596011316.

rs1465960113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:94875484 (GRCh38)
2:95541229 (GRCh37)
Canonical SPDI:: NC_000002.12:94875483:C:A,NC_000002.12:94875483:C:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.94875484C>A, NC_000002.12:g.94875484C>T, NC_000002.11:g.95541229C>A, NC_000002.11:g.95541229C>T, NW_003571032.1:g.313060C>A, NW_003571032.1:g.313060C>T, XM_011510670.3:c.956C>A, XM_011510670.3:c.956C>T, XM_011510670.2:c.956C>A, XM_011510670.2:c.956C>T, XM_011510670.1:c.956C>A, XM_011510670.1:c.956C>T, XP_011508972.1:p.Pro319His, XP_011508972.1:p.Pro319Leu

Select item 145487465817.

rs1454874658 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:94872072 (GRCh38)
2:95537818 (GRCh37)
Canonical SPDI:: NC_000002.12:94872072:T:TT
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.94872073dup, NC_000002.11:g.95537818dup, NW_003571032.1:g.309649dup, NM_144705.4:c.494dup, NM_144705.3:c.494dup, NM_144705.2:c.494dup, XM_005263876.4:c.494dup, XM_005263876.3:c.494dup, XM_005263876.2:c.494dup, XM_005263876.1:c.494dup, XM_011510670.3:c.494dup, XM_011510670.2:c.494dup, XM_011510670.1:c.494dup, NM_001286559.2:c.-756dup, NM_001286559.1:c.-756dup, NP_653306.1:p.Lys166fs, XP_005263933.1:p.Lys166fs, XP_011508972.1:p.Lys166fs

Select item 145387135618.

rs1453871356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94876759 (GRCh38)
2:95542504 (GRCh37)
Canonical SPDI:: NC_000002.12:94876758:G:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.94876759G>A, NC_000002.11:g.95542504G>A, NW_003571032.1:g.314335G>A, NM_144705.4:c.1298G>A, NM_144705.3:c.1298G>A, NM_144705.2:c.1298G>A, XM_005263876.4:c.*195G>A, XM_005263876.3:c.*195G>A, XM_005263876.2:c.*195G>A, XM_005263876.1:c.*195G>A, XM_011510670.3:c.1421G>A, XM_011510670.2:c.1421G>A, XM_011510670.1:c.1421G>A, NM_001286559.2:c.752G>A, NM_001286559.1:c.752G>A, NP_653306.1:p.Gly433Asp, XP_011508972.1:p.Gly474Asp, NP_001273488.1:p.Gly251Asp

Select item 145050935019.

rs1450509350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:94871872 (GRCh38)
2:95537617 (GRCh37)
Canonical SPDI:: NC_000002.12:94871871:C:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.94871872C>T, NC_000002.11:g.95537617C>T, NW_003571032.1:g.309448C>T, NM_144705.4:c.293C>T, NM_144705.3:c.293C>T, NM_144705.2:c.293C>T, XM_005263876.4:c.293C>T, XM_005263876.3:c.293C>T, XM_005263876.2:c.293C>T, XM_005263876.1:c.293C>T, XM_011510670.3:c.293C>T, XM_011510670.2:c.293C>T, XM_011510670.1:c.293C>T, NM_001286559.2:c.-957C>T, NM_001286559.1:c.-957C>T, NP_653306.1:p.Thr98Met, XP_005263933.1:p.Thr98Met, XP_011508972.1:p.Thr98Met

Select item 144567883020.

rs1445678830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94871853 (GRCh38)
2:95537598 (GRCh37)
Canonical SPDI:: NC_000002.12:94871852:G:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.94871853G>A, NC_000002.11:g.95537598G>A, NW_003571032.1:g.309429G>A, NM_144705.4:c.274G>A, NM_144705.3:c.274G>A, NM_144705.2:c.274G>A, XM_005263876.4:c.274G>A, XM_005263876.3:c.274G>A, XM_005263876.2:c.274G>A, XM_005263876.1:c.274G>A, XM_011510670.3:c.274G>A, XM_011510670.2:c.274G>A, XM_011510670.1:c.274G>A, NM_001286559.2:c.-976G>A, NM_001286559.1:c.-976G>A, NP_653306.1:p.Gly92Ser, XP_005263933.1:p.Gly92Ser, XP_011508972.1:p.Gly92Ser

dbSNP

Result Filters

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 640

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity