SNP Links for Protein (Select 336391156) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 698

<< First< Prev

Page of 35

Next >Last >>

Select item 14884254591.

rs1488425459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:55900114 (GRCh38)
5:55195942 (GRCh37)
Canonical SPDI:: NC_000005.10:55900113:C:A
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55900114C>A, NC_000005.9:g.55195942C>A, NG_029436.1:g.53736C>A, NM_139017.7:c.1051C>A, NM_139017.6:c.1051C>A, NM_139017.5:c.1051C>A, NM_001297570.3:c.1051C>A, NM_001297570.2:c.1051C>A, NM_001297570.1:c.1051C>A, NM_001242639.2:c.625C>A, NM_001242639.1:c.625C>A, NM_001242636.2:c.994C>A, NM_001242636.1:c.994C>A, NM_001242638.2:c.994C>A, NM_001242638.1:c.994C>A, NM_001242637.2:c.1051C>A, NM_001242637.1:c.1051C>A, XM_011543142.3:c.955C>A, XM_011543142.2:c.955C>A, XM_011543142.1:c.955C>A, XM_011543145.2:c.541C>A, XM_011543145.1:c.541C>A, NM_001297572.2:c.625C>A, XM_047416700.1:c.625C>A, NM_001297572.1:c.625C>A, XM_047416701.1:c.625C>A, NP_620586.3:p.Pro351Thr, NP_001284499.1:p.Pro351Thr, NP_001229568.1:p.Pro209Thr, NP_001229565.1:p.Pro332Thr, NP_001229567.1:p.Pro332Thr, NP_001229566.1:p.Pro351Thr, XP_011541444.1:p.Pro319Thr, XP_011541447.1:p.Pro181Thr, XP_047272656.1:p.Pro209Thr, XP_047272657.1:p.Pro209Thr

Select item 14848751762.

rs1484875176 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:55916777 (GRCh38)
5:55212605 (GRCh37)
Canonical SPDI:: NC_000005.10:55916776:TTTT:TTT
Gene:: IL31RA (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55916780del, NC_000005.9:g.55212608del, NG_029436.1:g.70402del, NM_139017.7:c.1955del, NM_139017.6:c.1955del, NM_139017.5:c.1955del, NM_001242639.2:c.1529del, NM_001242639.1:c.1529del, NM_001242636.2:c.1898del, NM_001242636.1:c.1898del, NM_001242638.2:c.1898del, NM_001242638.1:c.1898del, NM_001242637.2:c.1955del, NM_001242637.1:c.1955del, XM_011543142.3:c.1859del, XM_011543142.2:c.1859del, XM_011543142.1:c.1859del, XM_011543145.2:c.1445del, XM_011543145.1:c.1445del, XM_047416700.1:c.1529del, XM_047416701.1:c.1529del, NP_620586.3:p.Phe652fs, NP_001229568.1:p.Phe510fs, NP_001229565.1:p.Phe633fs, NP_001229567.1:p.Phe633fs, NP_001229566.1:p.Phe652fs, XP_011541444.1:p.Phe620fs, XP_011541447.1:p.Phe482fs, XP_047272656.1:p.Phe510fs, XP_047272657.1:p.Phe510fs

Select item 14835069713.

rs1483506971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:55914903 (GRCh38)
5:55210731 (GRCh37)
Canonical SPDI:: NC_000005.10:55914902:C:A
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.55914903C>A, NC_000005.9:g.55210731C>A, NG_029436.1:g.68525C>A, NM_139017.7:c.1793C>A, NM_139017.6:c.1793C>A, NM_139017.5:c.1793C>A, NM_001242639.2:c.1367C>A, NM_001242639.1:c.1367C>A, NM_001242636.2:c.1736C>A, NM_001242636.1:c.1736C>A, NM_001242638.2:c.1736C>A, NM_001242638.1:c.1736C>A, NM_001242637.2:c.1793C>A, NM_001242637.1:c.1793C>A, XM_011543142.3:c.1697C>A, XM_011543142.2:c.1697C>A, XM_011543142.1:c.1697C>A, XM_011543145.2:c.1283C>A, XM_011543145.1:c.1283C>A, XM_047416700.1:c.1367C>A, XM_047416701.1:c.1367C>A, NP_620586.3:p.Ala598Asp, NP_001229568.1:p.Ala456Asp, NP_001229565.1:p.Ala579Asp, NP_001229567.1:p.Ala579Asp, NP_001229566.1:p.Ala598Asp, XP_011541444.1:p.Ala566Asp, XP_011541447.1:p.Ala428Asp, XP_047272656.1:p.Ala456Asp, XP_047272657.1:p.Ala456Asp

Select item 14810965384.

rs1481096538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:55908274 (GRCh38)
5:55204102 (GRCh37)
Canonical SPDI:: NC_000005.10:55908273:A:C
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55908274A>C, NC_000005.9:g.55204102A>C, NG_029436.1:g.61896A>C, NM_139017.7:c.1364A>C, NM_139017.6:c.1364A>C, NM_139017.5:c.1364A>C, NM_001297570.3:c.1364A>C, NM_001297570.2:c.1364A>C, NM_001297570.1:c.1364A>C, NM_001242639.2:c.938A>C, NM_001242639.1:c.938A>C, NM_001242636.2:c.1307A>C, NM_001242636.1:c.1307A>C, NM_001242638.2:c.1307A>C, NM_001242638.1:c.1307A>C, NM_001242637.2:c.1364A>C, NM_001242637.1:c.1364A>C, XM_011543142.3:c.1268A>C, XM_011543142.2:c.1268A>C, XM_011543142.1:c.1268A>C, XM_011543145.2:c.854A>C, XM_011543145.1:c.854A>C, NM_001297572.2:c.938A>C, XM_047416700.1:c.938A>C, NM_001297572.1:c.938A>C, XM_047416701.1:c.938A>C, NP_620586.3:p.Glu455Ala, NP_001284499.1:p.Glu455Ala, NP_001229568.1:p.Glu313Ala, NP_001229565.1:p.Glu436Ala, NP_001229567.1:p.Glu436Ala, NP_001229566.1:p.Glu455Ala, XP_011541444.1:p.Glu423Ala, XP_011541447.1:p.Glu285Ala, XP_047272656.1:p.Glu313Ala, XP_047272657.1:p.Glu313Ala

Select item 14802861885.

rs1480286188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55908378 (GRCh38)
5:55204206 (GRCh37)
Canonical SPDI:: NC_000005.10:55908377:A:G
Gene:: IL31RA (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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55908378A>G, NC_000005.9:g.55204206A>G, NG_029436.1:g.62000A>G, NM_139017.7:c.1468A>G, NM_139017.6:c.1468A>G, NM_139017.5:c.1468A>G, NM_001297570.3:c.1468A>G, NM_001297570.2:c.1468A>G, NM_001297570.1:c.1468A>G, NM_001242639.2:c.1042A>G, NM_001242639.1:c.1042A>G, NM_001242636.2:c.1411A>G, NM_001242636.1:c.1411A>G, NM_001242638.2:c.1411A>G, NM_001242638.1:c.1411A>G, NM_001242637.2:c.1468A>G, NM_001242637.1:c.1468A>G, XM_011543142.3:c.1372A>G, XM_011543142.2:c.1372A>G, XM_011543142.1:c.1372A>G, XM_011543145.2:c.958A>G, XM_011543145.1:c.958A>G, NM_001297572.2:c.1042A>G, XM_047416700.1:c.1042A>G, NM_001297572.1:c.1042A>G, XM_047416701.1:c.1042A>G, NP_620586.3:p.Ile490Val, NP_001284499.1:p.Ile490Val, NP_001229568.1:p.Ile348Val, NP_001229565.1:p.Ile471Val, NP_001229567.1:p.Ile471Val, NP_001229566.1:p.Ile490Val, XP_011541444.1:p.Ile458Val, XP_011541447.1:p.Ile320Val, XP_047272656.1:p.Ile348Val, XP_047272657.1:p.Ile348Val

Select item 14792361926.

rs1479236192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:55917023 (GRCh38)
5:55212851 (GRCh37)
Canonical SPDI:: NC_000005.10:55917022:A:T
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.55917023A>T, NC_000005.9:g.55212851A>T, NG_029436.1:g.70645A>T, NM_139017.7:c.2198A>T, NM_139017.6:c.2198A>T, NM_139017.5:c.2198A>T, NM_001242639.2:c.1772A>T, NM_001242639.1:c.1772A>T, NM_001242636.2:c.2141A>T, NM_001242636.1:c.2141A>T, XM_011543142.3:c.2102A>T, XM_011543142.2:c.2102A>T, XM_011543142.1:c.2102A>T, XM_011543145.2:c.1688A>T, XM_011543145.1:c.1688A>T, XM_047416700.1:c.1772A>T, NP_620586.3:p.Glu733Val, NP_001229568.1:p.Glu591Val, NP_001229565.1:p.Glu714Val, XP_011541444.1:p.Glu701Val, XP_011541447.1:p.Glu563Val, XP_047272656.1:p.Glu591Val

Select item 14779556407.

rs1477955640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55883110 (GRCh38)
5:55178938 (GRCh37)
Canonical SPDI:: NC_000005.10:55883109:T:C
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55883110T>C, NC_000005.9:g.55178938T>C, NG_029436.1:g.36732T>C, NM_139017.7:c.521T>C, NM_139017.6:c.521T>C, NM_139017.5:c.521T>C, NM_001297570.3:c.521T>C, NM_001297570.2:c.521T>C, NM_001297570.1:c.521T>C, NM_001242639.2:c.95T>C, NM_001242639.1:c.95T>C, NM_001242636.2:c.464T>C, NM_001242636.1:c.464T>C, NM_001242638.2:c.464T>C, NM_001242638.1:c.464T>C, NM_001242637.2:c.521T>C, NM_001242637.1:c.521T>C, XM_011543142.3:c.425T>C, XM_011543142.2:c.425T>C, XM_011543142.1:c.425T>C, XM_011543145.2:c.11T>C, XM_011543145.1:c.11T>C, NM_001297572.2:c.95T>C, XM_047416700.1:c.95T>C, NM_001297572.1:c.95T>C, XM_047416701.1:c.95T>C, NP_620586.3:p.Ile174Thr, NP_001284499.1:p.Ile174Thr, NP_001229568.1:p.Ile32Thr, NP_001229565.1:p.Ile155Thr, NP_001229567.1:p.Ile155Thr, NP_001229566.1:p.Ile174Thr, XP_011541444.1:p.Ile142Thr, XP_011541447.1:p.Ile4Thr, XP_047272656.1:p.Ile32Thr, XP_047272657.1:p.Ile32Thr

Select item 14778227308.

rs1477822730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55900034 (GRCh38)
5:55195862 (GRCh37)
Canonical SPDI:: NC_000005.10:55900033:A:G
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55900034A>G, NC_000005.9:g.55195862A>G, NG_029436.1:g.53656A>G, NM_139017.7:c.971A>G, NM_139017.6:c.971A>G, NM_139017.5:c.971A>G, NM_001297570.3:c.971A>G, NM_001297570.2:c.971A>G, NM_001297570.1:c.971A>G, NM_001242639.2:c.545A>G, NM_001242639.1:c.545A>G, NM_001242636.2:c.914A>G, NM_001242636.1:c.914A>G, NM_001242638.2:c.914A>G, NM_001242638.1:c.914A>G, NM_001242637.2:c.971A>G, NM_001242637.1:c.971A>G, XM_011543142.3:c.875A>G, XM_011543142.2:c.875A>G, XM_011543142.1:c.875A>G, XM_011543145.2:c.461A>G, XM_011543145.1:c.461A>G, NM_001297572.2:c.545A>G, XM_047416700.1:c.545A>G, NM_001297572.1:c.545A>G, XM_047416701.1:c.545A>G, NP_620586.3:p.His324Arg, NP_001284499.1:p.His324Arg, NP_001229568.1:p.His182Arg, NP_001229565.1:p.His305Arg, NP_001229567.1:p.His305Arg, NP_001229566.1:p.His324Arg, XP_011541444.1:p.His292Arg, XP_011541447.1:p.His154Arg, XP_047272656.1:p.His182Arg, XP_047272657.1:p.His182Arg

Select item 14760532799.

rs1476053279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55913480 (GRCh38)
5:55209308 (GRCh37)
Canonical SPDI:: NC_000005.10:55913479:T:C
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55913480T>C, NC_000005.9:g.55209308T>C, NG_029436.1:g.67102T>C, NM_139017.7:c.1646T>C, NM_139017.6:c.1646T>C, NM_139017.5:c.1646T>C, NM_001242639.2:c.1220T>C, NM_001242639.1:c.1220T>C, NM_001242636.2:c.1589T>C, NM_001242636.1:c.1589T>C, NM_001242638.2:c.1589T>C, NM_001242638.1:c.1589T>C, NM_001242637.2:c.1646T>C, NM_001242637.1:c.1646T>C, XM_011543142.3:c.1550T>C, XM_011543142.2:c.1550T>C, XM_011543142.1:c.1550T>C, XM_011543145.2:c.1136T>C, XM_011543145.1:c.1136T>C, XM_047416700.1:c.1220T>C, XM_047416701.1:c.1220T>C, NP_620586.3:p.Val549Ala, NP_001229568.1:p.Val407Ala, NP_001229565.1:p.Val530Ala, NP_001229567.1:p.Val530Ala, NP_001229566.1:p.Val549Ala, XP_011541444.1:p.Val517Ala, XP_011541447.1:p.Val379Ala, XP_047272656.1:p.Val407Ala, XP_047272657.1:p.Val407Ala

Select item 147388827210.

rs1473888272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55907385 (GRCh38)
5:55203213 (GRCh37)
Canonical SPDI:: NC_000005.10:55907384:A:G
Gene:: IL31RA (Varview)
Functional Consequence:: 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)
HGVS:: NC_000005.10:g.55907385A>G, NC_000005.9:g.55203213A>G, NG_029436.1:g.61007A>G, NM_139017.7:c.1279A>G, NM_139017.6:c.1279A>G, NM_139017.5:c.1279A>G, NM_001297570.3:c.1279A>G, NM_001297570.2:c.1279A>G, NM_001297570.1:c.1279A>G, NM_001242639.2:c.853A>G, NM_001242639.1:c.853A>G, NM_001242636.2:c.1222A>G, NM_001242636.1:c.1222A>G, NM_001242638.2:c.1222A>G, NM_001242638.1:c.1222A>G, NM_001242637.2:c.1279A>G, NM_001242637.1:c.1279A>G, XM_011543142.3:c.1183A>G, XM_011543142.2:c.1183A>G, XM_011543142.1:c.1183A>G, XM_011543145.2:c.769A>G, XM_011543145.1:c.769A>G, NM_001297572.2:c.853A>G, XM_047416700.1:c.853A>G, NM_001297572.1:c.853A>G, XM_047416701.1:c.853A>G, NP_620586.3:p.Asn427Asp, NP_001284499.1:p.Asn427Asp, NP_001229568.1:p.Asn285Asp, NP_001229565.1:p.Asn408Asp, NP_001229567.1:p.Asn408Asp, NP_001229566.1:p.Asn427Asp, XP_011541444.1:p.Asn395Asp, XP_011541447.1:p.Asn257Asp, XP_047272656.1:p.Asn285Asp, XP_047272657.1:p.Asn285Asp

Select item 147263882011.

rs1472638820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:55908371 (GRCh38)
5:55204199 (GRCh37)
Canonical SPDI:: NC_000005.10:55908370:C:T
Gene:: IL31RA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55908371C>T, NC_000005.9:g.55204199C>T, NG_029436.1:g.61993C>T, NM_139017.7:c.1461C>T, NM_139017.6:c.1461C>T, NM_139017.5:c.1461C>T, NM_001297570.3:c.1461C>T, NM_001297570.2:c.1461C>T, NM_001297570.1:c.1461C>T, NM_001242639.2:c.1035C>T, NM_001242639.1:c.1035C>T, NM_001242636.2:c.1404C>T, NM_001242636.1:c.1404C>T, NM_001242638.2:c.1404C>T, NM_001242638.1:c.1404C>T, NM_001242637.2:c.1461C>T, NM_001242637.1:c.1461C>T, XM_011543142.3:c.1365C>T, XM_011543142.2:c.1365C>T, XM_011543142.1:c.1365C>T, XM_011543145.2:c.951C>T, XM_011543145.1:c.951C>T, NM_001297572.2:c.1035C>T, XM_047416700.1:c.1035C>T, NM_001297572.1:c.1035C>T, XM_047416701.1:c.1035C>T

Select item 147009559912.

rs1470095599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:55913498 (GRCh38)
5:55209326 (GRCh37)
Canonical SPDI:: NC_000005.10:55913497:T:A
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55913498T>A, NC_000005.9:g.55209326T>A, NG_029436.1:g.67120T>A, NM_139017.7:c.1664T>A, NM_139017.6:c.1664T>A, NM_139017.5:c.1664T>A, NM_001242639.2:c.1238T>A, NM_001242639.1:c.1238T>A, NM_001242636.2:c.1607T>A, NM_001242636.1:c.1607T>A, NM_001242638.2:c.1607T>A, NM_001242638.1:c.1607T>A, NM_001242637.2:c.1664T>A, NM_001242637.1:c.1664T>A, XM_011543142.3:c.1568T>A, XM_011543142.2:c.1568T>A, XM_011543142.1:c.1568T>A, XM_011543145.2:c.1154T>A, XM_011543145.1:c.1154T>A, XM_047416700.1:c.1238T>A, XM_047416701.1:c.1238T>A, NP_620586.3:p.Ile555Lys, NP_001229568.1:p.Ile413Lys, NP_001229565.1:p.Ile536Lys, NP_001229567.1:p.Ile536Lys, NP_001229566.1:p.Ile555Lys, XP_011541444.1:p.Ile523Lys, XP_011541447.1:p.Ile385Lys, XP_047272656.1:p.Ile413Lys, XP_047272657.1:p.Ile413Lys

Select item 146922767613.

rs1469227676 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGT [Show Flanks]
Chromosome:: 5:55916928 (GRCh38)
5:55212757 (GRCh37)
Canonical SPDI:: NC_000005.10:55916928::AGT
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,inframe_insertion,coding_sequence_variant
HGVS:: NC_000005.10:g.55916928_55916929insAGT, NC_000005.9:g.55212756_55212757insAGT, NG_029436.1:g.70550_70551insAGT, NM_139017.7:c.2103_2104insAGT, NM_139017.6:c.2103_2104insAGT, NM_139017.5:c.2103_2104insAGT, NM_001242639.2:c.1677_1678insAGT, NM_001242639.1:c.1677_1678insAGT, NM_001242636.2:c.2046_2047insAGT, NM_001242636.1:c.2046_2047insAGT, XM_011543142.3:c.2007_2008insAGT, XM_011543142.2:c.2007_2008insAGT, XM_011543142.1:c.2007_2008insAGT, XM_011543145.2:c.1593_1594insAGT, XM_011543145.1:c.1593_1594insAGT, XM_047416700.1:c.1677_1678insAGT, NP_620586.3:p.Tyr702_Leu703insSer, NP_001229568.1:p.Tyr560_Leu561insSer, NP_001229565.1:p.Tyr683_Leu684insSer, XP_011541444.1:p.Tyr670_Leu671insSer, XP_011541447.1:p.Tyr532_Leu533insSer, XP_047272656.1:p.Tyr560_Leu561insSer

Select item 146893370614.

rs1468933706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55916659 (GRCh38)
5:55212487 (GRCh37)
Canonical SPDI:: NC_000005.10:55916658:A:G
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.55916659A>G, NC_000005.9:g.55212487A>G, NG_029436.1:g.70281A>G, NM_139017.7:c.1834A>G, NM_139017.6:c.1834A>G, NM_139017.5:c.1834A>G, NM_001242639.2:c.1408A>G, NM_001242639.1:c.1408A>G, NM_001242636.2:c.1777A>G, NM_001242636.1:c.1777A>G, NM_001242638.2:c.1777A>G, NM_001242638.1:c.1777A>G, NM_001242637.2:c.1834A>G, NM_001242637.1:c.1834A>G, XM_011543142.3:c.1738A>G, XM_011543142.2:c.1738A>G, XM_011543142.1:c.1738A>G, XM_011543145.2:c.1324A>G, XM_011543145.1:c.1324A>G, XM_047416700.1:c.1408A>G, XM_047416701.1:c.1408A>G, NP_620586.3:p.Lys612Glu, NP_001229568.1:p.Lys470Glu, NP_001229565.1:p.Lys593Glu, NP_001229567.1:p.Lys593Glu, NP_001229566.1:p.Lys612Glu, XP_011541444.1:p.Lys580Glu, XP_011541447.1:p.Lys442Glu, XP_047272656.1:p.Lys470Glu, XP_047272657.1:p.Lys470Glu

Select item 146860902115.

rs1468609021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 5:55916874 (GRCh38)
5:55212703 (GRCh37)
Canonical SPDI:: NC_000005.10:55916874:AAAA:AAAAAA
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
AA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55916877_55916878dup, NC_000005.9:g.55212705_55212706dup, NG_029436.1:g.70499_70500dup, NM_139017.7:c.2052_2053dup, NM_139017.6:c.2052_2053dup, NM_139017.5:c.2052_2053dup, NM_001242639.2:c.1626_1627dup, NM_001242639.1:c.1626_1627dup, NM_001242636.2:c.1995_1996dup, NM_001242636.1:c.1995_1996dup, XM_011543142.3:c.1956_1957dup, XM_011543142.2:c.1956_1957dup, XM_011543142.1:c.1956_1957dup, XM_011543145.2:c.1542_1543dup, XM_011543145.1:c.1542_1543dup, XM_047416700.1:c.1626_1627dup, NP_620586.3:p.Ser685fs, NP_001229568.1:p.Ser543fs, NP_001229565.1:p.Ser666fs, XP_011541444.1:p.Ser653fs, XP_011541447.1:p.Ser515fs, XP_047272656.1:p.Ser543fs

Select item 146666054216.

rs1466660542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:55868858 (GRCh38)
5:55164686 (GRCh37)
Canonical SPDI:: NC_000005.10:55868857:G:C
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_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_000005.10:g.55868858G>C, NC_000005.9:g.55164686G>C, NG_029436.1:g.22480G>C, NM_139017.7:c.222G>C, NM_139017.6:c.222G>C, NM_139017.5:c.222G>C, NM_001297570.3:c.222G>C, NM_001297570.2:c.222G>C, NM_001297570.1:c.222G>C, NM_001242639.2:c.-205G>C, NM_001242639.1:c.-205G>C, NM_001242636.2:c.165G>C, NM_001242636.1:c.165G>C, NM_001242638.2:c.165G>C, NM_001242638.1:c.165G>C, NM_001242637.2:c.222G>C, NM_001242637.1:c.222G>C, XM_011543142.3:c.126G>C, XM_011543142.2:c.126G>C, XM_011543142.1:c.126G>C, XM_047416701.1:c.-205G>C, NP_620586.3:p.Trp74Cys, NP_001284499.1:p.Trp74Cys, NP_001229565.1:p.Trp55Cys, NP_001229567.1:p.Trp55Cys, NP_001229566.1:p.Trp74Cys, XP_011541444.1:p.Trp42Cys

Select item 146658285117.

rs1466582851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:55899945 (GRCh38)
5:55195773 (GRCh37)
Canonical SPDI:: NC_000005.10:55899944:A:T
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.55899945A>T, NC_000005.9:g.55195773A>T, NG_029436.1:g.53567A>T, NM_139017.7:c.882A>T, NM_139017.6:c.882A>T, NM_139017.5:c.882A>T, NM_001297570.3:c.882A>T, NM_001297570.2:c.882A>T, NM_001297570.1:c.882A>T, NM_001242639.2:c.456A>T, NM_001242639.1:c.456A>T, NM_001242636.2:c.825A>T, NM_001242636.1:c.825A>T, NM_001242638.2:c.825A>T, NM_001242638.1:c.825A>T, NM_001242637.2:c.882A>T, NM_001242637.1:c.882A>T, XM_011543142.3:c.786A>T, XM_011543142.2:c.786A>T, XM_011543142.1:c.786A>T, XM_011543145.2:c.372A>T, XM_011543145.1:c.372A>T, NM_001297572.2:c.456A>T, XM_047416700.1:c.456A>T, NM_001297572.1:c.456A>T, XM_047416701.1:c.456A>T, NP_620586.3:p.Lys294Asn, NP_001284499.1:p.Lys294Asn, NP_001229568.1:p.Lys152Asn, NP_001229565.1:p.Lys275Asn, NP_001229567.1:p.Lys275Asn, NP_001229566.1:p.Lys294Asn, XP_011541444.1:p.Lys262Asn, XP_011541447.1:p.Lys124Asn, XP_047272656.1:p.Lys152Asn, XP_047272657.1:p.Lys152Asn

Select item 146613255318.

rs1466132553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:55916846 (GRCh38)
5:55212674 (GRCh37)
Canonical SPDI:: NC_000005.10:55916845:G:A,NC_000005.10:55916845:G:T
Gene:: IL31RA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.55916846G>A, NC_000005.10:g.55916846G>T, NC_000005.9:g.55212674G>A, NC_000005.9:g.55212674G>T, NG_029436.1:g.70468G>A, NG_029436.1:g.70468G>T, NM_139017.7:c.2021G>A, NM_139017.7:c.2021G>T, NM_139017.6:c.2021G>A, NM_139017.6:c.2021G>T, NM_139017.5:c.2021G>A, NM_139017.5:c.2021G>T, NM_001242639.2:c.1595G>A, NM_001242639.2:c.1595G>T, NM_001242639.1:c.1595G>A, NM_001242639.1:c.1595G>T, NM_001242636.2:c.1964G>A, NM_001242636.2:c.1964G>T, NM_001242636.1:c.1964G>A, NM_001242636.1:c.1964G>T, XM_011543142.3:c.1925G>A, XM_011543142.3:c.1925G>T, XM_011543142.2:c.1925G>A, XM_011543142.2:c.1925G>T, XM_011543142.1:c.1925G>A, XM_011543142.1:c.1925G>T, XM_011543145.2:c.1511G>A, XM_011543145.2:c.1511G>T, XM_011543145.1:c.1511G>A, XM_011543145.1:c.1511G>T, XM_047416700.1:c.1595G>A, XM_047416700.1:c.1595G>T, NP_620586.3:p.Cys674Tyr, NP_620586.3:p.Cys674Phe, NP_001229568.1:p.Cys532Tyr, NP_001229568.1:p.Cys532Phe, NP_001229565.1:p.Cys655Tyr, NP_001229565.1:p.Cys655Phe, XP_011541444.1:p.Cys642Tyr, XP_011541444.1:p.Cys642Phe, XP_011541447.1:p.Cys504Tyr, XP_011541447.1:p.Cys504Phe, XP_047272656.1:p.Cys532Tyr, XP_047272656.1:p.Cys532Phe

Select item 146342313719.

rs1463423137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:55900112 (GRCh38)
5:55195940 (GRCh37)
Canonical SPDI:: NC_000005.10:55900111:T:G
Gene:: IL31RA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55900112T>G, NC_000005.9:g.55195940T>G, NG_029436.1:g.53734T>G, NM_139017.7:c.1049T>G, NM_139017.6:c.1049T>G, NM_139017.5:c.1049T>G, NM_001297570.3:c.1049T>G, NM_001297570.2:c.1049T>G, NM_001297570.1:c.1049T>G, NM_001242639.2:c.623T>G, NM_001242639.1:c.623T>G, NM_001242636.2:c.992T>G, NM_001242636.1:c.992T>G, NM_001242638.2:c.992T>G, NM_001242638.1:c.992T>G, NM_001242637.2:c.1049T>G, NM_001242637.1:c.1049T>G, XM_011543142.3:c.953T>G, XM_011543142.2:c.953T>G, XM_011543142.1:c.953T>G, XM_011543145.2:c.539T>G, XM_011543145.1:c.539T>G, NM_001297572.2:c.623T>G, XM_047416700.1:c.623T>G, NM_001297572.1:c.623T>G, XM_047416701.1:c.623T>G, NP_620586.3:p.Ile350Ser, NP_001284499.1:p.Ile350Ser, NP_001229568.1:p.Ile208Ser, NP_001229565.1:p.Ile331Ser, NP_001229567.1:p.Ile331Ser, NP_001229566.1:p.Ile350Ser, XP_011541444.1:p.Ile318Ser, XP_011541447.1:p.Ile180Ser, XP_047272656.1:p.Ile208Ser, XP_047272657.1:p.Ile208Ser

Select item 145731273120.

rs1457312731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55916993 (GRCh38)
5:55212821 (GRCh37)
Canonical SPDI:: NC_000005.10:55916992:G:A
Gene:: IL31RA (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_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_000005.10:g.55916993G>A, NC_000005.9:g.55212821G>A, NG_029436.1:g.70615G>A, NM_139017.7:c.2168G>A, NM_139017.6:c.2168G>A, NM_139017.5:c.2168G>A, NM_001242639.2:c.1742G>A, NM_001242639.1:c.1742G>A, NM_001242636.2:c.2111G>A, NM_001242636.1:c.2111G>A, XM_011543142.3:c.2072G>A, XM_011543142.2:c.2072G>A, XM_011543142.1:c.2072G>A, XM_011543145.2:c.1658G>A, XM_011543145.1:c.1658G>A, XM_047416700.1:c.1742G>A, NP_620586.3:p.Gly723Asp, NP_001229568.1:p.Gly581Asp, NP_001229565.1:p.Gly704Asp, XP_011541444.1:p.Gly691Asp, XP_011541447.1:p.Gly553Asp, XP_047272656.1:p.Gly581Asp

<< First< Prev

Page of 35

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 336391156) (698)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: