SNP Links for Protein (Select 14589959) - SNP

Links from Protein

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Select item 14891522391.

rs1489152239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:35984414 (GRCh38)
17:34311450 (GRCh37)
Canonical SPDI:: NC_000017.11:35984413:T:C
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000017.11:g.35984414T>C, NT_187614.1:g.218978T>C, NC_000017.10:g.34311450T>C, NM_032962.5:c.166A>G, NM_032962.4:c.166A>G, NM_032963.4:c.118A>G, NM_032963.3:c.118A>G, NM_004167.4:c.*267A>G, NM_004166.4:c.118A>G, NR_027921.3:n.1155A>G, NR_027921.2:n.1162A>G, NR_027922.3:n.1107A>G, NR_027922.2:n.1114A>G, NM_004167.3:c.*267A>G, NM_004166.3:c.118A>G, NM_032964.3:c.*219A>G, NM_004167.2:c.*267A>G, NM_032964.2:c.*219A>G, NM_004166.2:c.118A>G, NM_032964.1:c.*219A>G, NM_004167.1:c.*267A>G, NM_004166.1:c.118A>G, NP_116738.1:p.Thr56Ala, NP_116739.1:p.Thr40Ala

Select item 14848756952.

rs1484875695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35984428 (GRCh38)
17:34311464 (GRCh37)
Canonical SPDI:: NC_000017.11:35984427:C:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.35984428C>T, NT_187614.1:g.218992C>T, NC_000017.10:g.34311464C>T, NM_032962.5:c.152G>A, NM_032962.4:c.152G>A, NM_032963.4:c.104G>A, NM_032963.3:c.104G>A, NM_004167.4:c.*253G>A, NM_004166.4:c.104G>A, NR_027921.3:n.1141G>A, NR_027921.2:n.1148G>A, NR_027922.3:n.1093G>A, NR_027922.2:n.1100G>A, NM_004167.3:c.*253G>A, NM_004166.3:c.104G>A, NM_032964.3:c.*205G>A, NM_032964.2:c.*205G>A, NM_004166.2:c.104G>A, NM_004167.2:c.*253G>A, NM_032964.1:c.*205G>A, NM_004167.1:c.*253G>A, NM_004166.1:c.104G>A, NP_116738.1:p.Cys51Tyr, NP_116739.1:p.Cys35Tyr

Select item 14836837953.

rs1483683795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35984362 (GRCh38)
17:34311398 (GRCh37)
Canonical SPDI:: NC_000017.11:35984361:C:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35984362C>T, NT_187614.1:g.218926C>T, NC_000017.10:g.34311398C>T, NM_032962.5:c.218G>A, NM_032962.4:c.218G>A, NM_032963.4:c.170G>A, NM_032963.3:c.170G>A, NM_004167.4:c.*319G>A, NM_004166.4:c.170G>A, NR_027921.3:n.1207G>A, NR_027921.2:n.1214G>A, NR_027922.3:n.1159G>A, NR_027922.2:n.1166G>A, NM_004167.3:c.*319G>A, NM_004166.3:c.170G>A, NM_032964.3:c.*271G>A, NM_032964.2:c.*271G>A, NM_004166.2:c.170G>A, NM_004167.2:c.*319G>A, NM_032964.1:c.*271G>A, NM_004167.1:c.*319G>A, NM_004166.1:c.170G>A, NP_116738.1:p.Ser73Asn, NP_116739.1:p.Ser57Asn

Select item 14734351524.

rs1473435152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35986608 (GRCh38)
17:34313644 (GRCh37)
Canonical SPDI:: NC_000017.11:35986607:G:A
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.35986608G>A, NT_187614.1:g.221172G>A, NC_000017.10:g.34313644G>A, NM_032962.5:c.42C>T, NM_032962.4:c.42C>T, NM_032963.4:c.42C>T, NM_032963.3:c.42C>T, NM_004167.4:c.*143C>T, NM_004166.4:c.42C>T, NR_027921.3:n.1031C>T, NR_027921.2:n.1038C>T, NR_027922.3:n.1031C>T, NR_027922.2:n.1038C>T, NM_004167.3:c.*143C>T, NM_004166.3:c.42C>T, NM_032964.3:c.*143C>T, NM_032964.2:c.*143C>T, NM_004166.2:c.42C>T, NM_032964.1:c.*143C>T, NM_004167.2:c.*143C>T, NM_004167.1:c.*143C>T, NM_004166.1:c.42C>T

Select item 14417540885.

rs1441754088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35985751 (GRCh38)
17:34312787 (GRCh37)
Canonical SPDI:: NC_000017.11:35985750:C:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.35985751C>T, NT_187614.1:g.220315C>T, NC_000017.10:g.34312787C>T, NM_032962.5:c.124G>A, NM_032962.4:c.124G>A, NM_004167.4:c.*225G>A, NR_027921.3:n.1113G>A, NR_027921.2:n.1120G>A, NM_004167.3:c.*225G>A, NM_004167.2:c.*225G>A, NM_004167.1:c.*225G>A, NP_116738.1:p.Val42Met

Select item 14387410066.

rs1438741006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:35983884 (GRCh38)
17:34310920 (GRCh37)
Canonical SPDI:: NC_000017.11:35983883:T:C
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.35983884T>C, NT_187614.1:g.218448T>C, NC_000017.10:g.34310920T>C, NM_032962.5:c.247A>G, NM_032962.4:c.247A>G, NM_032963.4:c.199A>G, NM_032963.3:c.199A>G, NM_004167.4:c.*348A>G, NM_004166.4:c.199A>G, NR_027921.3:n.1236A>G, NR_027921.2:n.1243A>G, NR_027922.3:n.1188A>G, NR_027922.2:n.1195A>G, NM_004167.3:c.*348A>G, NM_004166.3:c.199A>G, NM_032964.3:c.*300A>G, NM_032964.2:c.*300A>G, NM_004166.2:c.199A>G, NM_004166.1:c.199A>G, NM_004167.2:c.*348A>G, NM_032964.1:c.*300A>G, NM_004167.1:c.*348A>G, NP_116738.1:p.Ile83Val, NP_116739.1:p.Ile67Val

Select item 14205199397.

rs1420519939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35984452 (GRCh38)
17:34311488 (GRCh37)
Canonical SPDI:: NC_000017.11:35984451:C:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35984452C>T, NT_187614.1:g.219016C>T, NC_000017.10:g.34311488C>T, NM_032962.5:c.128G>A, NM_032962.4:c.128G>A, NM_032963.4:c.80G>A, NM_032963.3:c.80G>A, NM_004167.4:c.*229G>A, NM_004166.4:c.80G>A, NR_027921.3:n.1117G>A, NR_027921.2:n.1124G>A, NR_027922.3:n.1069G>A, NR_027922.2:n.1076G>A, NM_004167.3:c.*229G>A, NM_004166.3:c.80G>A, NM_032964.3:c.*181G>A, NM_032964.2:c.*181G>A, NM_004166.2:c.80G>A, NM_004167.2:c.*229G>A, NM_032964.1:c.*181G>A, NM_004167.1:c.*229G>A, NM_004166.1:c.80G>A, NP_116738.1:p.Gly43Glu, NP_116739.1:p.Arg27Gln

Select item 14158662668.

rs1415866266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35985760 (GRCh38)
17:34312796 (GRCh37)
Canonical SPDI:: NC_000017.11:35985759:G:A
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.35985760G>A, NT_187614.1:g.220324G>A, NC_000017.10:g.34312796G>A, NM_032962.5:c.115C>T, NM_032962.4:c.115C>T, NM_004167.4:c.*216C>T, NR_027921.3:n.1104C>T, NR_027921.2:n.1111C>T, NM_004167.3:c.*216C>T, NM_004167.2:c.*216C>T, NM_004167.1:c.*216C>T

Select item 14126294509.

rs1412629450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:35985780 (GRCh38)
17:34312816 (GRCh37)
Canonical SPDI:: NC_000017.11:35985779:G:A,NC_000017.11:35985779:G:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.35985780G>A, NC_000017.11:g.35985780G>T, NT_187614.1:g.220344G>A, NT_187614.1:g.220344G>T, NC_000017.10:g.34312816G>A, NC_000017.10:g.34312816G>T, NM_032962.5:c.95C>T, NM_032962.5:c.95C>A, NM_032962.4:c.95C>T, NM_032962.4:c.95C>A, NM_004167.4:c.*196C>T, NM_004167.4:c.*196C>A, NR_027921.3:n.1084C>T, NR_027921.3:n.1084C>A, NR_027921.2:n.1091C>T, NR_027921.2:n.1091C>A, NM_004167.3:c.*196C>T, NM_004167.3:c.*196C>A, NM_004167.1:c.*196C>T, NM_004167.1:c.*196C>A, NM_004167.2:c.*196C>T, NM_004167.2:c.*196C>A, NP_116738.1:p.Pro32Leu, NP_116738.1:p.Pro32Gln

Select item 140800410810.

rs1408004108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:35985782 (GRCh38)
17:34312818 (GRCh37)
Canonical SPDI:: NC_000017.11:35985781:T:C
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.35985782T>C, NT_187614.1:g.220346T>C, NC_000017.10:g.34312818T>C, NM_032962.5:c.93A>G, NM_032962.4:c.93A>G, NM_004167.4:c.*194A>G, NR_027921.3:n.1082A>G, NR_027921.2:n.1089A>G, NM_004167.3:c.*194A>G, NM_004167.2:c.*194A>G, NM_004167.1:c.*194A>G

Select item 139612088111.

rs1396120881 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 17:35986645 (GRCh38)
17:34313681 (GRCh37)
Canonical SPDI:: NC_000017.11:35986642:TCTTC:TC
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: inframe_deletion,initiator_codon_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.35986645_35986647del, NT_187614.1:g.221209_221211del, NC_000017.10:g.34313681_34313683del, NM_032962.5:c.5_7del, NM_032962.4:c.5_7del, NM_032963.4:c.5_7del, NM_032963.3:c.5_7del, NM_004167.4:c.*106_*108del, NM_004166.4:c.5_7del, NR_027921.3:n.994_996del, NR_027921.2:n.1001_1003del, NR_027922.3:n.994_996del, NR_027922.2:n.1001_1003del, NM_004167.3:c.*106_*108del, NM_004166.3:c.5_7del, NM_032964.3:c.*106_*108del, NM_032964.2:c.*106_*108del, NM_004166.2:c.5_7del, NM_032964.1:c.*106_*108del, NM_004167.1:c.*106_*108del, NM_004167.2:c.*106_*108del, NM_004166.1:c.5_7del, NP_116738.1:p.Lys2del, NP_116739.1:p.Lys2del

Select item 139453373612.

rs1394533736 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:35985782 (GRCh38)
17:34312818 (GRCh37)
Canonical SPDI:: NC_000017.11:35985781:TTT:TT
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.35985784del, NT_187614.1:g.220348del, NC_000017.10:g.34312820del, NM_032962.5:c.93del, NM_032962.4:c.93del, NM_004167.4:c.*194del, NR_027921.3:n.1082del, NR_027921.2:n.1089del, NM_004167.3:c.*194del, NM_004167.2:c.*194del, NM_004167.1:c.*194del, NP_116738.1:p.Lys31fs

Select item 138733346713.

rs1387333467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35983843 (GRCh38)
17:34310879 (GRCh37)
Canonical SPDI:: NC_000017.11:35983842:G:A
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35983843G>A, NT_187614.1:g.218407G>A, NC_000017.10:g.34310879G>A, NM_032962.5:c.288C>T, NM_032962.4:c.288C>T, NM_032963.4:c.240C>T, NM_032963.3:c.240C>T, NM_004167.4:c.*389C>T, NM_004166.4:c.240C>T, NR_027921.3:n.1277C>T, NR_027921.2:n.1284C>T, NR_027922.3:n.1229C>T, NR_027922.2:n.1236C>T, NM_004167.3:c.*389C>T, NM_004166.3:c.240C>T, NM_032964.3:c.*341C>T, NM_032964.2:c.*341C>T, NM_004166.2:c.240C>T, NM_004167.2:c.*389C>T, NM_032964.1:c.*341C>T, NM_004167.1:c.*389C>T, NM_004166.1:c.240C>T

Select item 137466375514.

rs1374663755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35985779 (GRCh38)
17:34312815 (GRCh37)
Canonical SPDI:: NC_000017.11:35985778:C:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.35985779C>T, NT_187614.1:g.220343C>T, NC_000017.10:g.34312815C>T, NM_032962.5:c.96G>A, NM_032962.4:c.96G>A, NM_004167.4:c.*197G>A, NR_027921.3:n.1085G>A, NR_027921.2:n.1092G>A, NM_004167.3:c.*197G>A, NM_004167.2:c.*197G>A, NM_004167.1:c.*197G>A

Select item 136994489715.

rs1369944897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:35986621 (GRCh38)
17:34313657 (GRCh37)
Canonical SPDI:: NC_000017.11:35986620:A:T
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.35986621A>T, NT_187614.1:g.221185A>T, NC_000017.10:g.34313657A>T, NM_032962.5:c.29T>A, NM_032962.4:c.29T>A, NM_032963.4:c.29T>A, NM_032963.3:c.29T>A, NM_004167.4:c.*130T>A, NM_004166.4:c.29T>A, NR_027921.3:n.1018T>A, NR_027921.2:n.1025T>A, NR_027922.3:n.1018T>A, NR_027922.2:n.1025T>A, NM_004167.3:c.*130T>A, NM_004166.3:c.29T>A, NM_032964.3:c.*130T>A, NM_032964.2:c.*130T>A, NM_004166.2:c.29T>A, NM_032964.1:c.*130T>A, NM_004167.1:c.*130T>A, NM_004167.2:c.*130T>A, NM_004166.1:c.29T>A, NP_116738.1:p.Phe10Tyr, NP_116739.1:p.Phe10Tyr

Select item 135982939016.

rs1359829390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35983882 (GRCh38)
17:34310918 (GRCh37)
Canonical SPDI:: NC_000017.11:35983881:G:A
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.35983882G>A, NT_187614.1:g.218446G>A, NC_000017.10:g.34310918G>A, NM_032962.5:c.249C>T, NM_032962.4:c.249C>T, NM_032963.4:c.201C>T, NM_032963.3:c.201C>T, NM_004167.4:c.*350C>T, NM_004166.4:c.201C>T, NR_027921.3:n.1238C>T, NR_027921.2:n.1245C>T, NR_027922.3:n.1190C>T, NR_027922.2:n.1197C>T, NM_004167.3:c.*350C>T, NM_004166.3:c.201C>T, NM_032964.3:c.*302C>T, NM_032964.2:c.*302C>T, NM_004166.2:c.201C>T, NM_004167.2:c.*350C>T, NM_032964.1:c.*302C>T, NM_004167.1:c.*350C>T, NM_004166.1:c.201C>T

Select item 135775884617.

rs1357758846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:35986598 (GRCh38)
17:34313634 (GRCh37)
Canonical SPDI:: NC_000017.11:35986597:G:C
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.35986598G>C, NT_187614.1:g.221162G>C, NC_000017.10:g.34313634G>C, NM_032962.5:c.52C>G, NM_032962.4:c.52C>G, NM_032963.4:c.52C>G, NM_032963.3:c.52C>G, NM_004167.4:c.*153C>G, NM_004166.4:c.52C>G, NR_027921.3:n.1041C>G, NR_027921.2:n.1048C>G, NR_027922.3:n.1041C>G, NR_027922.2:n.1048C>G, NM_004167.3:c.*153C>G, NM_004166.3:c.52C>G, NM_032964.3:c.*153C>G, NM_032964.2:c.*153C>G, NM_004166.2:c.52C>G, NM_032964.1:c.*153C>G, NM_004167.1:c.*153C>G, NM_004167.2:c.*153C>G, NM_004166.1:c.52C>G, NP_116738.1:p.Leu18Val, NP_116739.1:p.Leu18Val

Select item 135597735218.

rs1355977352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:35986573 (GRCh38)
17:34313609 (GRCh37)
Canonical SPDI:: NC_000017.11:35986572:G:A,NC_000017.11:35986572:G:C
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: missense_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35986573G>A, NC_000017.11:g.35986573G>C, NT_187614.1:g.221137G>A, NT_187614.1:g.221137G>C, NC_000017.10:g.34313609G>A, NC_000017.10:g.34313609G>C, NM_032962.5:c.77C>T, NM_032962.5:c.77C>G, NM_032962.4:c.77C>T, NM_032962.4:c.77C>G, NM_032963.4:c.77C>T, NM_032963.4:c.77C>G, NM_032963.3:c.77C>T, NM_032963.3:c.77C>G, NM_004167.4:c.*178C>T, NM_004167.4:c.*178C>G, NM_004166.4:c.77C>T, NM_004166.4:c.77C>G, NR_027921.3:n.1066C>T, NR_027921.3:n.1066C>G, NR_027921.2:n.1073C>T, NR_027921.2:n.1073C>G, NR_027922.3:n.1066C>T, NR_027922.3:n.1066C>G, NR_027922.2:n.1073C>T, NR_027922.2:n.1073C>G, NM_004167.3:c.*178C>T, NM_004167.3:c.*178C>G, NM_004166.3:c.77C>T, NM_004166.3:c.77C>G, NM_032964.3:c.*178C>T, NM_032964.3:c.*178C>G, NM_032964.2:c.*178C>T, NM_032964.2:c.*178C>G, NM_004166.2:c.77C>T, NM_004166.2:c.77C>G, NM_004167.2:c.*178C>T, NM_004167.2:c.*178C>G, NM_032964.1:c.*178C>T, NM_032964.1:c.*178C>G, NM_004167.1:c.*178C>T, NM_004167.1:c.*178C>G, NM_004166.1:c.77C>T, NM_004166.1:c.77C>G, NP_116738.1:p.Ser26Leu, NP_116738.1:p.Ser26Ter, NP_116739.1:p.Ser26Leu, NP_116739.1:p.Ser26Ter

Select item 135332789819.

rs1353327898 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:35983859 (GRCh38)
17:34310895 (GRCh37)
Canonical SPDI:: NC_000017.11:35983858:C:
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.35983859del, NT_187614.1:g.218423del, NC_000017.10:g.34310895del, NM_032962.5:c.272del, NM_032962.4:c.272del, NM_032963.4:c.224del, NM_032963.3:c.224del, NM_004167.4:c.*373del, NM_004166.4:c.224del, NR_027921.3:n.1261del, NR_027921.2:n.1268del, NR_027922.3:n.1213del, NR_027922.2:n.1220del, NM_004167.3:c.*373del, NM_004166.3:c.224del, NM_032964.3:c.*325del, NM_032964.2:c.*325del, NM_004166.2:c.224del, NM_032964.1:c.*325del, NM_004167.2:c.*373del, NM_004167.1:c.*373del, NM_004166.1:c.224del, NP_116738.1:p.Cys91fs, NP_116739.1:p.Cys75fs

Select item 134112155720.

rs1341121557 has merged into rs1038894452 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 17:35985785 (GRCh38)
17:34312821 (GRCh37)
Canonical SPDI:: NC_000017.11:35985784:CCCCCC:CCCCC,NC_000017.11:35985784:CCCCCC:CCCCCCC
Gene:: CCL14 (Varview), CCL15-CCL14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.35985790del, NC_000017.11:g.35985790dup, NT_187614.1:g.220354del, NT_187614.1:g.220354dup, NC_000017.10:g.34312826del, NC_000017.10:g.34312826dup, NM_032962.5:c.90del, NM_032962.5:c.90dup, NM_032962.4:c.90del, NM_032962.4:c.90dup, NM_004167.4:c.*191del, NM_004167.4:c.*191dup, NR_027921.3:n.1079del, NR_027921.3:n.1079dup, NR_027921.2:n.1086del, NR_027921.2:n.1086dup, NM_004167.3:c.*191del, NM_004167.3:c.*191dup, NM_004167.2:c.*191del, NM_004167.2:c.*191dup, NM_004167.1:c.*191del, NM_004167.1:c.*191dup, NP_116738.1:p.Lys31fs, NP_116738.1:p.Lys31fs

dbSNP

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