SNP Links for Protein (Select 297632404) - SNP

Links from Protein

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Select item 14669317301.

rs1466931730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206899349 (GRCh38)
1:207072694 (GRCh37)
Canonical SPDI:: NC_000001.11:206899348:C:T
Gene:: IL24 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206899349C>T, NC_000001.10:g.207072694C>T, NG_029565.1:g.6907C>T, NM_006850.3:c.74C>T, NM_001185156.1:c.77C>T, NM_001185157.1:c.77C>T, XM_011509101.3:c.-8C>T, XM_011509101.2:c.-8C>T, XM_011509101.1:c.-8C>T, XM_047441763.1:c.77C>T, XM_047441774.1:c.74C>T, NP_006841.1:p.Ala25Val, NP_001172085.1:p.Ala26Val, NP_001172086.1:p.Ala26Val, XP_047297719.1:p.Ala26Val, XP_047297730.1:p.Ala25Val

Select item 14588170052.

rs1458817005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:206902062 (GRCh38)
1:207075407 (GRCh37)
Canonical SPDI:: NC_000001.11:206902061:C:A
Gene:: IL24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206902062C>A, NC_000001.10:g.207075407C>A, NG_029565.1:g.9620C>A, NM_006850.3:c.527C>A, NM_001185156.1:c.530C>A, NM_001185157.1:c.371C>A, NM_001185158.1:c.172C>A, XM_011509101.3:c.446C>A, XM_011509101.2:c.446C>A, XM_011509101.1:c.446C>A, XM_047441763.1:c.530C>A, XM_047441774.1:c.527C>A, NM_181339.1:c.53C>A, NP_006841.1:p.Ala176Glu, NP_001172085.1:p.Ala177Glu, NP_001172086.1:p.Ala124Glu, NP_001172087.1:p.His58Asn, XP_011507403.1:p.Ala149Glu, XP_047297719.1:p.Ala177Glu, XP_047297730.1:p.Ala176Glu

Select item 14528134913.

rs1452813491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:206899467 (GRCh38)
1:207072812 (GRCh37)
Canonical SPDI:: NC_000001.11:206899466:T:G
Gene:: IL24 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000001.11:g.206899467T>G, NC_000001.10:g.207072812T>G, NG_029565.1:g.7025T>G, NM_006850.3:c.192T>G, NM_001185156.1:c.195T>G, NM_001185157.1:c.195T>G, XM_011509101.3:c.111T>G, XM_011509101.2:c.111T>G, XM_011509101.1:c.111T>G, XM_047441763.1:c.195T>G, XM_047441774.1:c.192T>G

Select item 14526595694.

rs1452659569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:206903015 (GRCh38)
1:207076360 (GRCh37)
Canonical SPDI:: NC_000001.11:206903014:G:T
Gene:: FCMR (Varview), IL24 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206903015G>T, NC_000001.10:g.207076360G>T, NG_029565.1:g.10573G>T, NM_006850.3:c.577G>T, NM_001185156.1:c.580G>T, NM_001185157.1:c.421G>T, NM_001185158.1:c.*30G>T, XM_011509101.3:c.496G>T, XM_011509101.2:c.496G>T, XM_011509101.1:c.496G>T, XM_047441763.1:c.580G>T, XM_047441774.1:c.577G>T, NM_181339.1:c.103G>T, NP_006841.1:p.Val193Leu, NP_001172085.1:p.Val194Leu, NP_001172086.1:p.Val141Leu, XP_011507403.1:p.Val166Leu, XP_047297719.1:p.Val194Leu, XP_047297730.1:p.Val193Leu

Select item 14463848625.

rs1446384862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:206897864 (GRCh38)
1:207071209 (GRCh37)
Canonical SPDI:: NC_000001.11:206897863:G:C
Gene:: IL24 (Varview), LOC105372879 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.206897864G>C, NC_000001.10:g.207071209G>C, NG_029565.1:g.5422G>C, NM_006850.3:c.32G>C, NM_001185156.1:c.32G>C, NM_001185157.1:c.32G>C, NM_001185158.1:c.32G>C, XM_047441763.1:c.32G>C, XM_047441774.1:c.32G>C, NP_006841.1:p.Trp11Ser, NP_001172085.1:p.Trp11Ser, NP_001172086.1:p.Trp11Ser, NP_001172087.1:p.Trp11Ser, XP_047297719.1:p.Trp11Ser, XP_047297730.1:p.Trp11Ser

Select item 14428103816.

rs1442810381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206902050 (GRCh38)
1:207075395 (GRCh37)
Canonical SPDI:: NC_000001.11:206902049:T:C
Gene:: IL24 (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)
HGVS:: NC_000001.11:g.206902050T>C, NC_000001.10:g.207075395T>C, NG_029565.1:g.9608T>C, NM_006850.3:c.515T>C, NM_001185156.1:c.518T>C, NM_001185157.1:c.359T>C, NM_001185158.1:c.160T>C, XM_011509101.3:c.434T>C, XM_011509101.2:c.434T>C, XM_011509101.1:c.434T>C, XM_047441763.1:c.518T>C, XM_047441774.1:c.515T>C, NM_181339.1:c.41T>C, NP_006841.1:p.Leu172Pro, NP_001172085.1:p.Leu173Pro, NP_001172086.1:p.Leu120Pro, NP_001172087.1:p.Tyr54His, XP_011507403.1:p.Leu145Pro, XP_047297719.1:p.Leu173Pro, XP_047297730.1:p.Leu172Pro

Select item 14292348957.

rs1429234895 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCTGCCAAGTG [Show Flanks]
Chromosome:: 1:206899445 (GRCh38)
1:207072791 (GRCh37)
Canonical SPDI:: NC_000001.11:206899445:GCCCTGCCAAGTG:GCCCTGCCAAGTGCCCTGCCAAGTG
Gene:: IL24 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCCCTGCCAAGTGCCCTGCCAAGTG=0.000087/2 (ALFA)
GCCCTGCCAAGT=0.000004/1 (GnomAD_exomes)
GCCCTGCCAAGT=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206899447_206899458dup, NC_000001.10:g.207072792_207072803dup, NG_029565.1:g.7005_7016dup, NM_006850.3:c.172_183dup, NM_001185156.1:c.175_186dup, NM_001185157.1:c.175_186dup, XM_011509101.3:c.91_102dup, XM_011509101.2:c.91_102dup, XM_011509101.1:c.91_102dup, XM_047441763.1:c.175_186dup, XM_047441774.1:c.172_183dup, NP_006841.1:p.Pro58_Val61dup, NP_001172085.1:p.Pro59_Val62dup, NP_001172086.1:p.Pro59_Val62dup, XP_011507403.1:p.Pro31_Val34dup, XP_047297719.1:p.Pro59_Val62dup, XP_047297730.1:p.Pro58_Val61dup

Select item 14267510218.

rs1426751021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:206897849 (GRCh38)
1:207071194 (GRCh37)
Canonical SPDI:: NC_000001.11:206897848:G:C
Gene:: IL24 (Varview), LOC105372879 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206897849G>C, NC_000001.10:g.207071194G>C, NG_029565.1:g.5407G>C, NM_006850.3:c.17G>C, NM_001185156.1:c.17G>C, NM_001185157.1:c.17G>C, NM_001185158.1:c.17G>C, XM_047441763.1:c.17G>C, XM_047441774.1:c.17G>C, NP_006841.1:p.Arg6Thr, NP_001172085.1:p.Arg6Thr, NP_001172086.1:p.Arg6Thr, NP_001172087.1:p.Arg6Thr, XP_047297719.1:p.Arg6Thr, XP_047297730.1:p.Arg6Thr

Select item 14244743279.

rs1424474327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206902065 (GRCh38)
1:207075410 (GRCh37)
Canonical SPDI:: NC_000001.11:206902064:T:C
Gene:: IL24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206902065T>C, NC_000001.10:g.207075410T>C, NG_029565.1:g.9623T>C, NM_006850.3:c.530T>C, NM_001185156.1:c.533T>C, NM_001185157.1:c.374T>C, NM_001185158.1:c.175T>C, XM_011509101.3:c.449T>C, XM_011509101.2:c.449T>C, XM_011509101.1:c.449T>C, XM_047441763.1:c.533T>C, XM_047441774.1:c.530T>C, NM_181339.1:c.56T>C, NP_006841.1:p.Phe177Ser, NP_001172085.1:p.Phe178Ser, NP_001172086.1:p.Phe125Ser, NP_001172087.1:p.Ser59Pro, XP_011507403.1:p.Phe150Ser, XP_047297719.1:p.Phe178Ser, XP_047297730.1:p.Phe177Ser

Select item 142166775310.

rs1421667753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206903004 (GRCh38)
1:207076349 (GRCh37)
Canonical SPDI:: NC_000001.11:206903003:C:T
Gene:: FCMR (Varview), IL24 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206903004C>T, NC_000001.10:g.207076349C>T, NG_029565.1:g.10562C>T, NM_006850.3:c.566C>T, NM_001185156.1:c.569C>T, NM_001185157.1:c.410C>T, NM_001185158.1:c.*19C>T, XM_011509101.3:c.485C>T, XM_011509101.2:c.485C>T, XM_011509101.1:c.485C>T, XM_047441763.1:c.569C>T, XM_047441774.1:c.566C>T, NM_181339.1:c.92C>T, NP_006841.1:p.Ala189Val, NP_001172085.1:p.Ala190Val, NP_001172086.1:p.Ala137Val, XP_011507403.1:p.Ala162Val, XP_047297719.1:p.Ala190Val, XP_047297730.1:p.Ala189Val

Select item 141880415311.

rs1418804153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206897837 (GRCh38)
1:207071182 (GRCh37)
Canonical SPDI:: NC_000001.11:206897836:A:G
Gene:: IL24 (Varview), LOC105372879 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000001.11:g.206897837A>G, NC_000001.10:g.207071182A>G, NG_029565.1:g.5395A>G, NM_006850.3:c.5A>G, NM_001185156.1:c.5A>G, NM_001185157.1:c.5A>G, NM_001185158.1:c.5A>G, XM_047441763.1:c.5A>G, XM_047441774.1:c.5A>G, NP_006841.1:p.Asn2Ser, NP_001172085.1:p.Asn2Ser, NP_001172086.1:p.Asn2Ser, NP_001172087.1:p.Asn2Ser, XP_047297719.1:p.Asn2Ser, XP_047297730.1:p.Asn2Ser

Select item 140895869012.

rs1408958690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:206899333 (GRCh38)
1:207072678 (GRCh37)
Canonical SPDI:: NC_000001.11:206899332:C:A
Gene:: IL24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (ExAC)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206899333C>A, NC_000001.10:g.207072678C>A, NG_029565.1:g.6891C>A, NM_006850.3:c.58C>A, NM_001185156.1:c.61C>A, NM_001185157.1:c.61C>A, XM_011509101.3:c.-24C>A, XM_011509101.2:c.-24C>A, XM_011509101.1:c.-24C>A, XM_047441763.1:c.61C>A, XM_047441774.1:c.58C>A, NP_006841.1:p.Pro20Thr, NP_001172085.1:p.Pro21Thr, NP_001172086.1:p.Pro21Thr, XP_047297719.1:p.Pro21Thr, XP_047297730.1:p.Pro20Thr

Select item 139831540313.

rs1398315403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:206899346 (GRCh38)
1:207072692 (GRCh37)
Canonical SPDI:: NC_000001.11:206899346:A:AA
Gene:: IL24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206899347dup, NC_000001.10:g.207072692dup, NG_029565.1:g.6905dup, NM_006850.3:c.72dup, NM_001185156.1:c.75dup, NM_001185157.1:c.75dup, XM_011509101.3:c.-10dup, XM_011509101.2:c.-10dup, XM_011509101.1:c.-10dup, XM_047441763.1:c.75dup, XM_047441774.1:c.72dup, NP_006841.1:p.Ala25fs, NP_001172085.1:p.Ala26fs, NP_001172086.1:p.Ala26fs, XP_047297719.1:p.Ala26fs, XP_047297730.1:p.Ala25fs

Select item 139781160514.

rs1397811605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:206899455 (GRCh38)
1:207072800 (GRCh37)
Canonical SPDI:: NC_000001.11:206899454:A:C
Gene:: IL24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206899455A>C, NC_000001.10:g.207072800A>C, NG_029565.1:g.7013A>C, NM_006850.3:c.180A>C, NM_001185156.1:c.183A>C, NM_001185157.1:c.183A>C, XM_011509101.3:c.99A>C, XM_011509101.2:c.99A>C, XM_011509101.1:c.99A>C, XM_047441763.1:c.183A>C, XM_047441774.1:c.180A>C, NP_006841.1:p.Gln60His, NP_001172085.1:p.Gln61His, NP_001172086.1:p.Gln61His, XP_011507403.1:p.Gln33His, XP_047297719.1:p.Gln61His, XP_047297730.1:p.Gln60His

Select item 139580401715.

rs1395804017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:206899447 (GRCh38)
1:207072792 (GRCh37)
Canonical SPDI:: NC_000001.11:206899446:C:A
Gene:: IL24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206899447C>A, NC_000001.10:g.207072792C>A, NG_029565.1:g.7005C>A, NM_006850.3:c.172C>A, NM_001185156.1:c.175C>A, NM_001185157.1:c.175C>A, XM_011509101.3:c.91C>A, XM_011509101.2:c.91C>A, XM_011509101.1:c.91C>A, XM_047441763.1:c.175C>A, XM_047441774.1:c.172C>A, NP_006841.1:p.Pro58Thr, NP_001172085.1:p.Pro59Thr, NP_001172086.1:p.Pro59Thr, XP_011507403.1:p.Pro31Thr, XP_047297719.1:p.Pro59Thr, XP_047297730.1:p.Pro58Thr

Select item 139360161216.

rs1393601612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:206903029 (GRCh38)
1:207076374 (GRCh37)
Canonical SPDI:: NC_000001.11:206903028:G:T
Gene:: FCMR (Varview), IL24 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206903029G>T, NC_000001.10:g.207076374G>T, NG_029565.1:g.10587G>T, NM_006850.3:c.591G>T, NM_001185156.1:c.594G>T, NM_001185157.1:c.435G>T, NM_001185158.1:c.*44G>T, XM_011509101.3:c.510G>T, XM_011509101.2:c.510G>T, XM_011509101.1:c.510G>T, XM_047441763.1:c.594G>T, XM_047441774.1:c.591G>T, NM_181339.1:c.117G>T

Select item 139230450417.

rs1392304504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206900311 (GRCh38)
1:207073656 (GRCh37)
Canonical SPDI:: NC_000001.11:206900310:T:C
Gene:: IL24 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206900311T>C, NC_000001.10:g.207073656T>C, NG_029565.1:g.7869T>C, NM_006850.3:c.257T>C, NM_001185156.1:c.260T>C, NM_001185157.1:c.260T>C, NM_001185158.1:c.61T>C, XM_011509101.3:c.176T>C, XM_011509101.2:c.176T>C, XM_011509101.1:c.176T>C, XM_047441763.1:c.260T>C, XM_047441774.1:c.257T>C, NM_181339.1:c.-218T>C, NP_006841.1:p.Ile86Thr, NP_001172085.1:p.Ile87Thr, NP_001172086.1:p.Ile87Thr, NP_001172087.1:p.Ser21Pro, XP_011507403.1:p.Ile59Thr, XP_047297719.1:p.Ile87Thr, XP_047297730.1:p.Ile86Thr

Select item 139162024318.

rs1391620243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206899365 (GRCh38)
1:207072710 (GRCh37)
Canonical SPDI:: NC_000001.11:206899364:G:A
Gene:: IL24 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.206899365G>A, NC_000001.10:g.207072710G>A, NG_029565.1:g.6923G>A, NM_006850.3:c.90G>A, NM_001185156.1:c.93G>A, NM_001185157.1:c.93G>A, XM_011509101.3:c.9G>A, XM_011509101.2:c.9G>A, XM_011509101.1:c.9G>A, XM_047441763.1:c.93G>A, XM_047441774.1:c.90G>A, NP_006841.1:p.Met30Ile, NP_001172085.1:p.Met31Ile, NP_001172086.1:p.Met31Ile, XP_011507403.1:p.Met3Ile, XP_047297719.1:p.Met31Ile, XP_047297730.1:p.Met30Ile

Select item 138609761919.

rs1386097619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206903053 (GRCh38)
1:207076398 (GRCh37)
Canonical SPDI:: NC_000001.11:206903052:G:A
Gene:: FCMR (Varview), IL24 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206903053G>A, NC_000001.10:g.207076398G>A, NG_029565.1:g.10611G>A, NM_006850.3:c.615G>A, NM_001185156.1:c.618G>A, NM_001185157.1:c.459G>A, NM_001185158.1:c.*68G>A, XM_011509101.3:c.534G>A, XM_011509101.2:c.534G>A, XM_011509101.1:c.534G>A, XM_047441763.1:c.618G>A, XM_047441774.1:c.615G>A, NM_181339.1:c.141G>A

Select item 138322092520.

rs1383220925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206902034 (GRCh38)
1:207075379 (GRCh37)
Canonical SPDI:: NC_000001.11:206902033:C:T
Gene:: IL24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206902034C>T, NC_000001.10:g.207075379C>T, NG_029565.1:g.9592C>T, NM_006850.3:c.499C>T, NM_001185156.1:c.502C>T, NM_001185157.1:c.343C>T, NM_001185158.1:c.144C>T, XM_011509101.3:c.418C>T, XM_011509101.2:c.418C>T, XM_011509101.1:c.418C>T, XM_047441763.1:c.502C>T, XM_047441774.1:c.499C>T, NM_181339.1:c.25C>T, NP_006841.1:p.His167Tyr, NP_001172085.1:p.His168Tyr, NP_001172086.1:p.His115Tyr, XP_011507403.1:p.His140Tyr, XP_047297719.1:p.His168Tyr, XP_047297730.1:p.His167Tyr

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