SNP Links for Protein (Select 218751877) - SNP

Links from Protein

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Select item 14894596301.

rs1489459630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:48729783 (GRCh38)
8:49642342 (GRCh37)
Canonical SPDI:: NC_000008.11:48729782:C:G
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.48729783C>G, NC_000008.10:g.49642342C>G, NM_024593.4:c.408G>C, NM_024593.3:c.408G>C, XM_011517591.3:c.222G>C, XM_011517591.2:c.222G>C, XM_011517591.1:c.222G>C, NM_001363973.3:c.252G>C, NM_001363973.2:c.252G>C, NM_001363973.1:c.252G>C, NR_024605.3:n.322G>C, NR_024605.2:n.322G>C, NR_024605.1:n.365G>C, XM_017013827.2:c.222G>C, XM_017013827.1:c.222G>C, NM_001142857.2:c.252G>C, NM_001142857.1:c.252G>C, XM_005251303.2:c.408G>C, XM_005251303.1:c.408G>C, NM_001363974.2:c.252G>C, NM_001363974.1:c.252G>C, XM_011517589.2:c.408G>C, XM_011517589.1:c.408G>C, XM_017013828.2:c.*40G>C, XM_017013828.1:c.*40G>C, XM_047422231.1:c.222G>C, NR_157026.1:n.365G>C, NP_078869.1:p.Gln136His, XP_011515893.1:p.Gln74His, NP_001350902.1:p.Gln84His, XP_016869316.1:p.Gln74His, NP_001136329.1:p.Gln84His, XP_005251360.1:p.Gln136His, NP_001350903.1:p.Gln84His, XP_011515891.1:p.Gln136His, XP_047278187.1:p.Gln74His

Select item 14893882532.

rs1489388253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:48735142 (GRCh38)
8:49647701 (GRCh37)
Canonical SPDI:: NC_000008.11:48735141:T:G
Gene:: CLXN (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48735142T>G, NC_000008.10:g.49647701T>G, NM_024593.4:c.10A>C, NM_024593.3:c.10A>C, XM_011517591.3:c.-300A>C, XM_011517591.2:c.-300A>C, XM_011517591.1:c.-300A>C, NM_001363973.3:c.10A>C, NM_001363973.2:c.10A>C, NM_001363973.1:c.10A>C, NR_024605.3:n.127A>C, NR_024605.2:n.127A>C, NR_024605.1:n.170A>C, XM_017013827.2:c.-450A>C, XM_017013827.1:c.-450A>C, NM_001142857.2:c.10A>C, NM_001142857.1:c.10A>C, XM_005251303.2:c.10A>C, XM_005251303.1:c.10A>C, NM_001363974.2:c.10A>C, NM_001363974.1:c.10A>C, NR_157027.2:n.127A>C, NR_157027.1:n.127A>C, XM_011517589.2:c.10A>C, XM_011517589.1:c.10A>C, XM_017013828.2:c.10A>C, XM_017013828.1:c.10A>C, XM_047422231.1:c.-327A>C, NR_157026.1:n.170A>C, NP_078869.1:p.Lys4Gln, NP_001350902.1:p.Lys4Gln, NP_001136329.1:p.Lys4Gln, XP_005251360.1:p.Lys4Gln, NP_001350903.1:p.Lys4Gln, XP_011515891.1:p.Lys4Gln, XP_016869317.1:p.Lys4Gln

Select item 14887131373.

rs1488713137 [Homo sapiens]

Variant type:: DEL
Alleles:: AGAT>- [Show Flanks]
Chromosome:: 8:48729777 (GRCh38)
8:49642336 (GRCh37)
Canonical SPDI:: NC_000008.11:48729776:AGAT:
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48729777_48729780del, NC_000008.10:g.49642336_49642339del, NM_024593.4:c.411_414del, NM_024593.3:c.411_414del, XM_011517591.3:c.225_228del, XM_011517591.2:c.225_228del, XM_011517591.1:c.225_228del, NM_001363973.3:c.255_258del, NM_001363973.2:c.255_258del, NM_001363973.1:c.255_258del, NR_024605.3:n.325_328del, NR_024605.2:n.325_328del, NR_024605.1:n.368_371del, XM_017013827.2:c.225_228del, XM_017013827.1:c.225_228del, NM_001142857.2:c.255_258del, NM_001142857.1:c.255_258del, XM_005251303.2:c.411_414del, XM_005251303.1:c.411_414del, NM_001363974.2:c.255_258del, NM_001363974.1:c.255_258del, XM_011517589.2:c.411_414del, XM_011517589.1:c.411_414del, XM_017013828.2:c.*43_*46del, XM_017013828.1:c.*43_*46del, XM_047422231.1:c.225_228del, NR_157026.1:n.368_371del, NP_078869.1:p.Ser138fs, XP_011515893.1:p.Ser76fs, NP_001350902.1:p.Ser86fs, XP_016869316.1:p.Ser76fs, NP_001136329.1:p.Ser86fs, XP_005251360.1:p.Ser138fs, NP_001350903.1:p.Ser86fs, XP_011515891.1:p.Ser138fs, XP_047278187.1:p.Ser76fs

Select item 14836655844.

rs1483665584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:48724749 (GRCh38)
8:49637308 (GRCh37)
Canonical SPDI:: NC_000008.11:48724748:T:C
Gene:: CLXN (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_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_000008.11:g.48724749T>C, NC_000008.10:g.49637308T>C, NM_024593.4:c.629A>G, NM_024593.3:c.629A>G, XM_011517591.3:c.443A>G, XM_011517591.2:c.443A>G, XM_011517591.1:c.443A>G, NM_001363973.3:c.473A>G, NM_001363973.2:c.473A>G, NM_001363973.1:c.473A>G, NR_024605.3:n.543A>G, NR_024605.2:n.543A>G, NR_024605.1:n.586A>G, XM_017013827.2:c.443A>G, XM_017013827.1:c.443A>G, NM_001142857.2:c.473A>G, NM_001142857.1:c.473A>G, XM_005251303.2:c.629A>G, XM_005251303.1:c.629A>G, NM_001363974.2:c.473A>G, NM_001363974.1:c.473A>G, XM_011517589.2:c.629A>G, XM_011517589.1:c.629A>G, XM_047422231.1:c.443A>G, NR_157026.1:n.586A>G, NP_078869.1:p.Asp210Gly, XP_011515893.1:p.Asp148Gly, NP_001350902.1:p.Asp158Gly, XP_016869316.1:p.Asp148Gly, NP_001136329.1:p.Asp158Gly, XP_005251360.1:p.Asp210Gly, NP_001350903.1:p.Asp158Gly, XP_011515891.1:p.Asp210Gly, XP_047278187.1:p.Asp148Gly

Select item 14802981635.

rs1480298163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:48724780 (GRCh38)
8:49637339 (GRCh37)
Canonical SPDI:: NC_000008.11:48724779:G:A
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48724780G>A, NC_000008.10:g.49637339G>A, NM_024593.4:c.598C>T, NM_024593.3:c.598C>T, XM_011517591.3:c.412C>T, XM_011517591.2:c.412C>T, XM_011517591.1:c.412C>T, NM_001363973.3:c.442C>T, NM_001363973.2:c.442C>T, NM_001363973.1:c.442C>T, NR_024605.3:n.512C>T, NR_024605.2:n.512C>T, NR_024605.1:n.555C>T, XM_017013827.2:c.412C>T, XM_017013827.1:c.412C>T, NM_001142857.2:c.442C>T, NM_001142857.1:c.442C>T, XM_005251303.2:c.598C>T, XM_005251303.1:c.598C>T, NM_001363974.2:c.442C>T, NM_001363974.1:c.442C>T, XM_011517589.2:c.598C>T, XM_011517589.1:c.598C>T, XM_047422231.1:c.412C>T, NR_157026.1:n.555C>T, NP_078869.1:p.Gln200Ter, XP_011515893.1:p.Gln138Ter, NP_001350902.1:p.Gln148Ter, XP_016869316.1:p.Gln138Ter, NP_001136329.1:p.Gln148Ter, XP_005251360.1:p.Gln200Ter, NP_001350903.1:p.Gln148Ter, XP_011515891.1:p.Gln200Ter, XP_047278187.1:p.Gln138Ter

Select item 14771597126.

rs1477159712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:48730545 (GRCh38)
8:49643104 (GRCh37)
Canonical SPDI:: NC_000008.11:48730544:A:G
Gene:: CLXN (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.48730545A>G, NC_000008.10:g.49643104A>G, NM_024593.4:c.314T>C, NM_024593.3:c.314T>C, XM_011517591.3:c.128T>C, XM_011517591.2:c.128T>C, XM_011517591.1:c.128T>C, NM_001363973.3:c.158T>C, NM_001363973.2:c.158T>C, NM_001363973.1:c.158T>C, NR_024605.3:n.275T>C, NR_024605.2:n.275T>C, NR_024605.1:n.318T>C, XM_017013827.2:c.128T>C, XM_017013827.1:c.128T>C, NM_001142857.2:c.158T>C, NM_001142857.1:c.158T>C, XM_005251303.2:c.314T>C, XM_005251303.1:c.314T>C, NM_001363974.2:c.158T>C, NM_001363974.1:c.158T>C, XM_011517589.2:c.314T>C, XM_011517589.1:c.314T>C, XM_017013828.2:c.314T>C, XM_017013828.1:c.314T>C, XM_047422231.1:c.128T>C, NR_157026.1:n.318T>C, NP_078869.1:p.Met105Thr, XP_011515893.1:p.Met43Thr, NP_001350902.1:p.Met53Thr, XP_016869316.1:p.Met43Thr, NP_001136329.1:p.Met53Thr, XP_005251360.1:p.Met105Thr, NP_001350903.1:p.Met53Thr, XP_011515891.1:p.Met105Thr, XP_016869317.1:p.Met105Thr, XP_047278187.1:p.Met43Thr

Select item 14561557487.

rs1456155748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48729842 (GRCh38)
8:49642401 (GRCh37)
Canonical SPDI:: NC_000008.11:48729841:C:T
Gene:: CLXN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.48729842C>T, NC_000008.10:g.49642401C>T, NM_024593.4:c.349G>A, NM_024593.3:c.349G>A, XM_011517591.3:c.163G>A, XM_011517591.2:c.163G>A, XM_011517591.1:c.163G>A, NM_001363973.3:c.193G>A, NM_001363973.2:c.193G>A, NM_001363973.1:c.193G>A, XM_017013827.2:c.163G>A, XM_017013827.1:c.163G>A, NM_001142857.2:c.193G>A, NM_001142857.1:c.193G>A, XM_005251303.2:c.349G>A, XM_005251303.1:c.349G>A, NM_001363974.2:c.193G>A, NM_001363974.1:c.193G>A, XM_011517589.2:c.349G>A, XM_011517589.1:c.349G>A, XM_047422231.1:c.163G>A, NP_078869.1:p.Asp117Asn, XP_011515893.1:p.Asp55Asn, NP_001350902.1:p.Asp65Asn, XP_016869316.1:p.Asp55Asn, NP_001136329.1:p.Asp65Asn, XP_005251360.1:p.Asp117Asn, NP_001350903.1:p.Asp65Asn, XP_011515891.1:p.Asp117Asn, XP_047278187.1:p.Asp55Asn

Select item 14473451568.

rs1447345156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:48729090 (GRCh38)
8:49641649 (GRCh37)
Canonical SPDI:: NC_000008.11:48729089:T:G
Gene:: CLXN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48729090T>G, NC_000008.10:g.49641649T>G, NM_024593.4:c.528A>C, NM_024593.3:c.528A>C, XM_011517591.3:c.342A>C, XM_011517591.2:c.342A>C, XM_011517591.1:c.342A>C, NM_001363973.3:c.372A>C, NM_001363973.2:c.372A>C, NM_001363973.1:c.372A>C, NR_024605.3:n.442A>C, NR_024605.2:n.442A>C, NR_024605.1:n.485A>C, XM_017013827.2:c.342A>C, XM_017013827.1:c.342A>C, NM_001142857.2:c.372A>C, NM_001142857.1:c.372A>C, XM_005251303.2:c.528A>C, XM_005251303.1:c.528A>C, NM_001363974.2:c.372A>C, NM_001363974.1:c.372A>C, NR_157027.2:n.348A>C, NR_157027.1:n.348A>C, XM_011517589.2:c.528A>C, XM_011517589.1:c.528A>C, XM_047422231.1:c.342A>C, NR_157026.1:n.485A>C, NP_078869.1:p.Glu176Asp, XP_011515893.1:p.Glu114Asp, NP_001350902.1:p.Glu124Asp, XP_016869316.1:p.Glu114Asp, NP_001136329.1:p.Glu124Asp, XP_005251360.1:p.Glu176Asp, NP_001350903.1:p.Glu124Asp, XP_011515891.1:p.Glu176Asp, XP_047278187.1:p.Glu114Asp

Select item 14427073409.

rs1442707340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:48730602 (GRCh38)
8:49643161 (GRCh37)
Canonical SPDI:: NC_000008.11:48730601:A:G
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48730602A>G, NC_000008.10:g.49643161A>G, NM_024593.4:c.257T>C, NM_024593.3:c.257T>C, XM_011517591.3:c.71T>C, XM_011517591.2:c.71T>C, XM_011517591.1:c.71T>C, NM_001363973.3:c.101T>C, NM_001363973.2:c.101T>C, NM_001363973.1:c.101T>C, NR_024605.3:n.218T>C, NR_024605.2:n.218T>C, NR_024605.1:n.261T>C, XM_017013827.2:c.71T>C, XM_017013827.1:c.71T>C, NM_001142857.2:c.101T>C, NM_001142857.1:c.101T>C, XM_005251303.2:c.257T>C, XM_005251303.1:c.257T>C, NM_001363974.2:c.101T>C, NM_001363974.1:c.101T>C, XM_011517589.2:c.257T>C, XM_011517589.1:c.257T>C, XM_017013828.2:c.257T>C, XM_017013828.1:c.257T>C, XM_047422231.1:c.71T>C, NR_157026.1:n.261T>C, NP_078869.1:p.Val86Ala, XP_011515893.1:p.Val24Ala, NP_001350902.1:p.Val34Ala, XP_016869316.1:p.Val24Ala, NP_001136329.1:p.Val34Ala, XP_005251360.1:p.Val86Ala, NP_001350903.1:p.Val34Ala, XP_011515891.1:p.Val86Ala, XP_016869317.1:p.Val86Ala, XP_047278187.1:p.Val24Ala

Select item 143217120210.

rs1432171202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:48735116 (GRCh38)
8:49647675 (GRCh37)
Canonical SPDI:: NC_000008.11:48735115:G:A,NC_000008.11:48735115:G:C
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.48735116G>A, NC_000008.11:g.48735116G>C, NC_000008.10:g.49647675G>A, NC_000008.10:g.49647675G>C, NM_024593.4:c.36C>T, NM_024593.4:c.36C>G, NM_024593.3:c.36C>T, NM_024593.3:c.36C>G, XM_011517591.3:c.-274C>T, XM_011517591.3:c.-274C>G, XM_011517591.2:c.-274C>T, XM_011517591.2:c.-274C>G, XM_011517591.1:c.-274C>T, XM_011517591.1:c.-274C>G, NM_001363973.3:c.36C>T, NM_001363973.3:c.36C>G, NM_001363973.2:c.36C>T, NM_001363973.2:c.36C>G, NM_001363973.1:c.36C>T, NM_001363973.1:c.36C>G, NR_024605.3:n.153C>T, NR_024605.3:n.153C>G, NR_024605.2:n.153C>T, NR_024605.2:n.153C>G, NR_024605.1:n.196C>T, NR_024605.1:n.196C>G, XM_017013827.2:c.-424C>T, XM_017013827.2:c.-424C>G, XM_017013827.1:c.-424C>T, XM_017013827.1:c.-424C>G, NM_001142857.2:c.36C>T, NM_001142857.2:c.36C>G, NM_001142857.1:c.36C>T, NM_001142857.1:c.36C>G, XM_005251303.2:c.36C>T, XM_005251303.2:c.36C>G, XM_005251303.1:c.36C>T, XM_005251303.1:c.36C>G, NM_001363974.2:c.36C>T, NM_001363974.2:c.36C>G, NM_001363974.1:c.36C>T, NM_001363974.1:c.36C>G, NR_157027.2:n.153C>T, NR_157027.2:n.153C>G, NR_157027.1:n.153C>T, NR_157027.1:n.153C>G, XM_011517589.2:c.36C>T, XM_011517589.2:c.36C>G, XM_011517589.1:c.36C>T, XM_011517589.1:c.36C>G, XM_017013828.2:c.36C>T, XM_017013828.2:c.36C>G, XM_017013828.1:c.36C>T, XM_017013828.1:c.36C>G, XM_047422231.1:c.-301C>T, XM_047422231.1:c.-301C>G, NR_157026.1:n.196C>T, NR_157026.1:n.196C>G

Select item 142500076211.

rs1425000762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:48730620 (GRCh38)
8:49643179 (GRCh37)
Canonical SPDI:: NC_000008.11:48730619:T:A
Gene:: CLXN (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48730620T>A, NC_000008.10:g.49643179T>A, NM_024593.4:c.239A>T, NM_024593.3:c.239A>T, XM_011517591.3:c.53A>T, XM_011517591.2:c.53A>T, XM_011517591.1:c.53A>T, NM_001363973.3:c.83A>T, NM_001363973.2:c.83A>T, NM_001363973.1:c.83A>T, NR_024605.3:n.200A>T, NR_024605.2:n.200A>T, NR_024605.1:n.243A>T, XM_017013827.2:c.53A>T, XM_017013827.1:c.53A>T, NM_001142857.2:c.83A>T, NM_001142857.1:c.83A>T, XM_005251303.2:c.239A>T, XM_005251303.1:c.239A>T, NM_001363974.2:c.83A>T, NM_001363974.1:c.83A>T, XM_011517589.2:c.239A>T, XM_011517589.1:c.239A>T, XM_017013828.2:c.239A>T, XM_017013828.1:c.239A>T, XM_047422231.1:c.53A>T, NR_157026.1:n.243A>T, NP_078869.1:p.Asn80Ile, XP_011515893.1:p.Asn18Ile, NP_001350902.1:p.Asn28Ile, XP_016869316.1:p.Asn18Ile, NP_001136329.1:p.Asn28Ile, XP_005251360.1:p.Asn80Ile, NP_001350903.1:p.Asn28Ile, XP_011515891.1:p.Asn80Ile, XP_016869317.1:p.Asn80Ile, XP_047278187.1:p.Asn18Ile

Select item 142113417312.

rs1421134173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48729720 (GRCh38)
8:49642279 (GRCh37)
Canonical SPDI:: NC_000008.11:48729719:C:T
Gene:: CLXN (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48729720C>T, NC_000008.10:g.49642279C>T, NM_024593.4:c.471G>A, NM_024593.3:c.471G>A, XM_011517591.3:c.285G>A, XM_011517591.2:c.285G>A, XM_011517591.1:c.285G>A, NM_001363973.3:c.315G>A, NM_001363973.2:c.315G>A, NM_001363973.1:c.315G>A, NR_024605.3:n.385G>A, NR_024605.2:n.385G>A, NR_024605.1:n.428G>A, XM_017013827.2:c.285G>A, XM_017013827.1:c.285G>A, NM_001142857.2:c.315G>A, NM_001142857.1:c.315G>A, XM_005251303.2:c.471G>A, XM_005251303.1:c.471G>A, NM_001363974.2:c.315G>A, NM_001363974.1:c.315G>A, XM_011517589.2:c.471G>A, XM_011517589.1:c.471G>A, XM_047422231.1:c.285G>A, NR_157026.1:n.428G>A, NP_078869.1:p.Met157Ile, XP_011515893.1:p.Met95Ile, NP_001350902.1:p.Met105Ile, XP_016869316.1:p.Met95Ile, NP_001136329.1:p.Met105Ile, XP_005251360.1:p.Met157Ile, NP_001350903.1:p.Met105Ile, XP_011515891.1:p.Met157Ile, XP_047278187.1:p.Met95Ile

Select item 141675766013.

rs1416757660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:48729795 (GRCh38)
8:49642354 (GRCh37)
Canonical SPDI:: NC_000008.11:48729794:G:A,NC_000008.11:48729794:G:C
Gene:: CLXN (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
HGVS:: NC_000008.11:g.48729795G>A, NC_000008.11:g.48729795G>C, NC_000008.10:g.49642354G>A, NC_000008.10:g.49642354G>C, NM_024593.4:c.396C>T, NM_024593.4:c.396C>G, NM_024593.3:c.396C>T, NM_024593.3:c.396C>G, XM_011517591.3:c.210C>T, XM_011517591.3:c.210C>G, XM_011517591.2:c.210C>T, XM_011517591.2:c.210C>G, XM_011517591.1:c.210C>T, XM_011517591.1:c.210C>G, NM_001363973.3:c.240C>T, NM_001363973.3:c.240C>G, NM_001363973.2:c.240C>T, NM_001363973.2:c.240C>G, NM_001363973.1:c.240C>T, NM_001363973.1:c.240C>G, NR_024605.3:n.310C>T, NR_024605.3:n.310C>G, NR_024605.2:n.310C>T, NR_024605.2:n.310C>G, NR_024605.1:n.353C>T, NR_024605.1:n.353C>G, XM_017013827.2:c.210C>T, XM_017013827.2:c.210C>G, XM_017013827.1:c.210C>T, XM_017013827.1:c.210C>G, NM_001142857.2:c.240C>T, NM_001142857.2:c.240C>G, NM_001142857.1:c.240C>T, NM_001142857.1:c.240C>G, XM_005251303.2:c.396C>T, XM_005251303.2:c.396C>G, XM_005251303.1:c.396C>T, XM_005251303.1:c.396C>G, NM_001363974.2:c.240C>T, NM_001363974.2:c.240C>G, NM_001363974.1:c.240C>T, NM_001363974.1:c.240C>G, XM_011517589.2:c.396C>T, XM_011517589.2:c.396C>G, XM_011517589.1:c.396C>T, XM_011517589.1:c.396C>G, XM_017013828.2:c.*28C>T, XM_017013828.2:c.*28C>G, XM_017013828.1:c.*28C>T, XM_017013828.1:c.*28C>G, XM_047422231.1:c.210C>T, XM_047422231.1:c.210C>G, NR_157026.1:n.353C>T, NR_157026.1:n.353C>G, NP_078869.1:p.Ser132Arg, XP_011515893.1:p.Ser70Arg, NP_001350902.1:p.Ser80Arg, XP_016869316.1:p.Ser70Arg, NP_001136329.1:p.Ser80Arg, XP_005251360.1:p.Ser132Arg, NP_001350903.1:p.Ser80Arg, XP_011515891.1:p.Ser132Arg, XP_047278187.1:p.Ser70Arg

Select item 141530898714.

rs1415308987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48730635 (GRCh38)
8:49643194 (GRCh37)
Canonical SPDI:: NC_000008.11:48730634:C:T
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48730635C>T, NC_000008.10:g.49643194C>T, NM_024593.4:c.224G>A, NM_024593.3:c.224G>A, XM_011517591.3:c.38G>A, XM_011517591.2:c.38G>A, XM_011517591.1:c.38G>A, NM_001363973.3:c.68G>A, NM_001363973.2:c.68G>A, NM_001363973.1:c.68G>A, NR_024605.3:n.185G>A, NR_024605.2:n.185G>A, NR_024605.1:n.228G>A, XM_017013827.2:c.38G>A, XM_017013827.1:c.38G>A, NM_001142857.2:c.68G>A, NM_001142857.1:c.68G>A, XM_005251303.2:c.224G>A, XM_005251303.1:c.224G>A, NM_001363974.2:c.68G>A, NM_001363974.1:c.68G>A, XM_011517589.2:c.224G>A, XM_011517589.1:c.224G>A, XM_017013828.2:c.224G>A, XM_017013828.1:c.224G>A, XM_047422231.1:c.38G>A, NR_157026.1:n.228G>A, NP_078869.1:p.Gly75Asp, XP_011515893.1:p.Gly13Asp, NP_001350902.1:p.Gly23Asp, XP_016869316.1:p.Gly13Asp, NP_001136329.1:p.Gly23Asp, XP_005251360.1:p.Gly75Asp, NP_001350903.1:p.Gly23Asp, XP_011515891.1:p.Gly75Asp, XP_016869317.1:p.Gly75Asp, XP_047278187.1:p.Gly13Asp

Select item 141270343915.

rs1412703439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:48735120 (GRCh38)
8:49647679 (GRCh37)
Canonical SPDI:: NC_000008.11:48735119:T:G
Gene:: CLXN (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,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_000008.11:g.48735120T>G, NC_000008.10:g.49647679T>G, NM_024593.4:c.32A>C, NM_024593.3:c.32A>C, XM_011517591.3:c.-278A>C, XM_011517591.2:c.-278A>C, XM_011517591.1:c.-278A>C, NM_001363973.3:c.32A>C, NM_001363973.2:c.32A>C, NM_001363973.1:c.32A>C, NR_024605.3:n.149A>C, NR_024605.2:n.149A>C, NR_024605.1:n.192A>C, XM_017013827.2:c.-428A>C, XM_017013827.1:c.-428A>C, NM_001142857.2:c.32A>C, NM_001142857.1:c.32A>C, XM_005251303.2:c.32A>C, XM_005251303.1:c.32A>C, NM_001363974.2:c.32A>C, NM_001363974.1:c.32A>C, NR_157027.2:n.149A>C, NR_157027.1:n.149A>C, XM_011517589.2:c.32A>C, XM_011517589.1:c.32A>C, XM_017013828.2:c.32A>C, XM_017013828.1:c.32A>C, XM_047422231.1:c.-305A>C, NR_157026.1:n.192A>C, NP_078869.1:p.Asp11Ala, NP_001350902.1:p.Asp11Ala, NP_001136329.1:p.Asp11Ala, XP_005251360.1:p.Asp11Ala, NP_001350903.1:p.Asp11Ala, XP_011515891.1:p.Asp11Ala, XP_016869317.1:p.Asp11Ala

Select item 140667139216.

rs1406671392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:48729786 (GRCh38)
8:49642345 (GRCh37)
Canonical SPDI:: NC_000008.11:48729785:T:C
Gene:: CLXN (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48729786T>C, NC_000008.10:g.49642345T>C, NM_024593.4:c.405A>G, NM_024593.3:c.405A>G, XM_011517591.3:c.219A>G, XM_011517591.2:c.219A>G, XM_011517591.1:c.219A>G, NM_001363973.3:c.249A>G, NM_001363973.2:c.249A>G, NM_001363973.1:c.249A>G, NR_024605.3:n.319A>G, NR_024605.2:n.319A>G, NR_024605.1:n.362A>G, XM_017013827.2:c.219A>G, XM_017013827.1:c.219A>G, NM_001142857.2:c.249A>G, NM_001142857.1:c.249A>G, XM_005251303.2:c.405A>G, XM_005251303.1:c.405A>G, NM_001363974.2:c.249A>G, NM_001363974.1:c.249A>G, XM_011517589.2:c.405A>G, XM_011517589.1:c.405A>G, XM_017013828.2:c.*37A>G, XM_017013828.1:c.*37A>G, XM_047422231.1:c.219A>G, NR_157026.1:n.362A>G

Select item 138054951217.

rs1380549512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:48729808 (GRCh38)
8:49642367 (GRCh37)
Canonical SPDI:: NC_000008.11:48729807:A:C
Gene:: CLXN (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48729808A>C, NC_000008.10:g.49642367A>C, NM_024593.4:c.383T>G, NM_024593.3:c.383T>G, XM_011517591.3:c.197T>G, XM_011517591.2:c.197T>G, XM_011517591.1:c.197T>G, NM_001363973.3:c.227T>G, NM_001363973.2:c.227T>G, NM_001363973.1:c.227T>G, NR_024605.3:n.297T>G, NR_024605.2:n.297T>G, NR_024605.1:n.340T>G, XM_017013827.2:c.197T>G, XM_017013827.1:c.197T>G, NM_001142857.2:c.227T>G, NM_001142857.1:c.227T>G, XM_005251303.2:c.383T>G, XM_005251303.1:c.383T>G, NM_001363974.2:c.227T>G, NM_001363974.1:c.227T>G, XM_011517589.2:c.383T>G, XM_011517589.1:c.383T>G, XM_017013828.2:c.*15T>G, XM_017013828.1:c.*15T>G, XM_047422231.1:c.197T>G, NR_157026.1:n.340T>G, NP_078869.1:p.Met128Arg, XP_011515893.1:p.Met66Arg, NP_001350902.1:p.Met76Arg, XP_016869316.1:p.Met66Arg, NP_001136329.1:p.Met76Arg, XP_005251360.1:p.Met128Arg, NP_001350903.1:p.Met76Arg, XP_011515891.1:p.Met128Arg, XP_047278187.1:p.Met66Arg

Select item 137990708118.

rs1379907081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:48724792 (GRCh38)
8:49637351 (GRCh37)
Canonical SPDI:: NC_000008.11:48724791:C:T
Gene:: CLXN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.48724792C>T, NC_000008.10:g.49637351C>T, NM_024593.4:c.586G>A, NM_024593.3:c.586G>A, XM_011517591.3:c.400G>A, XM_011517591.2:c.400G>A, XM_011517591.1:c.400G>A, NM_001363973.3:c.430G>A, NM_001363973.2:c.430G>A, NM_001363973.1:c.430G>A, NR_024605.3:n.500G>A, NR_024605.2:n.500G>A, NR_024605.1:n.543G>A, XM_017013827.2:c.400G>A, XM_017013827.1:c.400G>A, NM_001142857.2:c.430G>A, NM_001142857.1:c.430G>A, XM_005251303.2:c.586G>A, XM_005251303.1:c.586G>A, NM_001363974.2:c.430G>A, NM_001363974.1:c.430G>A, XM_011517589.2:c.586G>A, XM_011517589.1:c.586G>A, XM_047422231.1:c.400G>A, NR_157026.1:n.543G>A, NP_078869.1:p.Glu196Lys, XP_011515893.1:p.Glu134Lys, NP_001350902.1:p.Glu144Lys, XP_016869316.1:p.Glu134Lys, NP_001136329.1:p.Glu144Lys, XP_005251360.1:p.Glu196Lys, NP_001350903.1:p.Glu144Lys, XP_011515891.1:p.Glu196Lys, XP_047278187.1:p.Glu134Lys

Select item 137319655219.

rs1373196552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:48729843 (GRCh38)
8:49642402 (GRCh37)
Canonical SPDI:: NC_000008.11:48729842:A:G,NC_000008.11:48729842:A:T
Gene:: CLXN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.48729843A>G, NC_000008.11:g.48729843A>T, NC_000008.10:g.49642402A>G, NC_000008.10:g.49642402A>T, NM_024593.4:c.348T>C, NM_024593.4:c.348T>A, NM_024593.3:c.348T>C, NM_024593.3:c.348T>A, XM_011517591.3:c.162T>C, XM_011517591.3:c.162T>A, XM_011517591.2:c.162T>C, XM_011517591.2:c.162T>A, XM_011517591.1:c.162T>C, XM_011517591.1:c.162T>A, NM_001363973.3:c.192T>C, NM_001363973.3:c.192T>A, NM_001363973.2:c.192T>C, NM_001363973.2:c.192T>A, NM_001363973.1:c.192T>C, NM_001363973.1:c.192T>A, XM_017013827.2:c.162T>C, XM_017013827.2:c.162T>A, XM_017013827.1:c.162T>C, XM_017013827.1:c.162T>A, NM_001142857.2:c.192T>C, NM_001142857.2:c.192T>A, NM_001142857.1:c.192T>C, NM_001142857.1:c.192T>A, XM_005251303.2:c.348T>C, XM_005251303.2:c.348T>A, XM_005251303.1:c.348T>C, XM_005251303.1:c.348T>A, NM_001363974.2:c.192T>C, NM_001363974.2:c.192T>A, NM_001363974.1:c.192T>C, NM_001363974.1:c.192T>A, XM_011517589.2:c.348T>C, XM_011517589.2:c.348T>A, XM_011517589.1:c.348T>C, XM_011517589.1:c.348T>A, XM_047422231.1:c.162T>C, XM_047422231.1:c.162T>A

Select item 137224836120.

rs1372248361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:48735121 (GRCh38)
8:49647680 (GRCh37)
Canonical SPDI:: NC_000008.11:48735120:C:G
Gene:: CLXN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.48735121C>G, NC_000008.10:g.49647680C>G, NM_024593.4:c.31G>C, NM_024593.3:c.31G>C, XM_011517591.3:c.-279G>C, XM_011517591.2:c.-279G>C, XM_011517591.1:c.-279G>C, NM_001363973.3:c.31G>C, NM_001363973.2:c.31G>C, NM_001363973.1:c.31G>C, NR_024605.3:n.148G>C, NR_024605.2:n.148G>C, NR_024605.1:n.191G>C, XM_017013827.2:c.-429G>C, XM_017013827.1:c.-429G>C, NM_001142857.2:c.31G>C, NM_001142857.1:c.31G>C, XM_005251303.2:c.31G>C, XM_005251303.1:c.31G>C, NM_001363974.2:c.31G>C, NM_001363974.1:c.31G>C, NR_157027.2:n.148G>C, NR_157027.1:n.148G>C, XM_011517589.2:c.31G>C, XM_011517589.1:c.31G>C, XM_017013828.2:c.31G>C, XM_017013828.1:c.31G>C, XM_047422231.1:c.-306G>C, NR_157026.1:n.191G>C, NP_078869.1:p.Asp11His, NP_001350902.1:p.Asp11His, NP_001136329.1:p.Asp11His, XP_005251360.1:p.Asp11His, NP_001350903.1:p.Asp11His, XP_011515891.1:p.Asp11His, XP_016869317.1:p.Asp11His

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