SNP Links for Protein (Select 612407879) - SNP

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Links from Protein

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Select item 14871338201.

rs1487133820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:36211216 (GRCh38)
17:34538618 (GRCh37)
Canonical SPDI:: NC_000017.11:36211215:A:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.36211216A>T, NG_026174.1:g.49739A>T, NT_187661.1:g.165353A>T, NC_000017.10:g.34538618A>T, NT_187614.1:g.446120A>T, NW_003315949.1:g.95972A>T, NM_001291470.2:c.75A>T, NM_001291470.1:c.75A>T, NM_001291469.2:c.75A>T, NM_001291469.1:c.75A>T, NM_001291475.2:c.75A>T, NM_001291475.1:c.75A>T, NM_001291471.2:c.75A>T, NM_001291471.1:c.75A>T, NM_001291472.2:c.75A>T, NM_001291472.1:c.75A>T, NM_001291473.2:c.75A>T, NM_001291473.1:c.75A>T, NM_001291474.2:c.75A>T, NM_001291474.1:c.75A>T, NM_001291468.2:c.75A>T, NM_001291468.1:c.75A>T, NR_111970.2:n.154A>T, NR_111970.1:n.154A>T, NM_207007.2:c.75A>T, NM_207007.3:c.75A>T, NM_001001435.2:c.75A>T

Select item 14801159482.

rs1480115948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:36211201 (GRCh38)
17:34538603 (GRCh37)
Canonical SPDI:: NC_000017.11:36211200:A:C
Gene:: CCL4L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001851/26 (ALFA)
C=0.000468/3 (1000Genomes)
C=0.001644/225 (GnomAD)
HGVS:: NC_000017.11:g.36211201A>C, NG_026174.1:g.49724A>C, NT_187661.1:g.165338A>C, NC_000017.10:g.34538603A>C, NT_187614.1:g.446105A>C, NW_003315949.1:g.95957A>C, NM_001291470.2:c.60A>C, NM_001291470.1:c.60A>C, NM_001291469.2:c.60A>C, NM_001291469.1:c.60A>C, NM_001291475.2:c.60A>C, NM_001291475.1:c.60A>C, NM_001291471.2:c.60A>C, NM_001291471.1:c.60A>C, NM_001291472.2:c.60A>C, NM_001291472.1:c.60A>C, NM_001291473.2:c.60A>C, NM_001291473.1:c.60A>C, NM_001291474.2:c.60A>C, NM_001291474.1:c.60A>C, NM_001291468.2:c.60A>C, NM_001291468.1:c.60A>C, NR_111970.2:n.139A>C, NR_111970.1:n.139A>C, NM_207007.2:c.60A>C, NM_207007.3:c.60A>C, NM_001001435.2:c.60A>C

Select item 14749240503.

rs1474924050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36211778 (GRCh38)
17:34539180 (GRCh37)
Canonical SPDI:: NC_000017.11:36211777:G:A
Gene:: CCL4L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.36211778G>A, NG_026174.1:g.50301G>A, NT_187661.1:g.165915G>A, NC_000017.10:g.34539180G>A, NT_187614.1:g.446682G>A, NW_003315949.1:g.96534G>A, NM_001291470.2:c.79G>A, NM_001291470.1:c.79G>A, NM_001291469.2:c.79G>A, NM_001291469.1:c.79G>A, NM_001291475.2:c.79G>A, NM_001291475.1:c.79G>A, NM_001291471.2:c.79G>A, NM_001291471.1:c.79G>A, NM_001291472.2:c.79G>A, NM_001291472.1:c.79G>A, NM_001291473.2:c.79G>A, NM_001291473.1:c.79G>A, NM_001291468.2:c.79G>A, NM_001291468.1:c.79G>A, NM_207007.2:c.79G>A, NM_207007.3:c.79G>A, NM_001001435.2:c.79G>A, NP_001278399.1:p.Gly27Ser, NP_001278398.1:p.Gly27Ser, NP_001278404.1:p.Gly27Ser, NP_001278400.1:p.Gly27Ser, NP_001278401.1:p.Gly27Ser, NP_001278402.1:p.Gly27Ser, NP_001278397.1:p.Gly27Ser

Select item 14733657734.

rs1473365773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:36212411 (GRCh38)
17:34539813 (GRCh37)
Canonical SPDI:: NC_000017.11:36212410:A:C
Gene:: CCL4L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.36212411A>C, NG_026174.1:g.50934A>C, NT_187661.1:g.166548A>C, NC_000017.10:g.34539813A>C, NT_187614.1:g.447315A>C, NW_003315949.1:g.97167A>C, NM_001291470.2:c.*517A>C, NM_001291470.1:c.*517A>C, NM_001291469.2:c.*115A>C, NM_001291469.1:c.*115A>C, NM_001291475.2:c.300A>C, NM_001291475.1:c.300A>C, NM_001291471.2:c.290A>C, NM_001291471.1:c.290A>C, NM_001291472.2:c.269A>C, NM_001291472.1:c.269A>C, NM_001291473.2:c.239A>C, NM_001291473.1:c.239A>C, NM_001291474.2:c.195A>C, NM_001291474.1:c.195A>C, NP_001278400.1:p.Gln97Pro, NP_001278401.1:p.Gln90Pro, NP_001278402.1:p.Gln80Pro

Select item 14672368015.

rs1467236801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36211854 (GRCh38)
17:34539256 (GRCh37)
Canonical SPDI:: NC_000017.11:36211853:A:G
Gene:: CCL4L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.36211854A>G, NG_026174.1:g.50377A>G, NT_187661.1:g.165991A>G, NC_000017.10:g.34539256A>G, NT_187614.1:g.446758A>G, NW_003315949.1:g.96610A>G, NM_001291470.2:c.155A>G, NM_001291470.1:c.155A>G, NM_001291469.2:c.155A>G, NM_001291469.1:c.155A>G, NM_001291475.2:c.155A>G, NM_001291475.1:c.155A>G, NM_001291471.2:c.155A>G, NM_001291471.1:c.155A>G, NM_001291472.2:c.155A>G, NM_001291472.1:c.155A>G, NM_001291473.2:c.155A>G, NM_001291473.1:c.155A>G, NM_001291468.2:c.155A>G, NM_001291468.1:c.155A>G, NM_207007.2:c.155A>G, NM_207007.3:c.155A>G, NM_001001435.2:c.155A>G, NP_001278399.1:p.Tyr52Cys, NP_001278398.1:p.Tyr52Cys, NP_001278404.1:p.Tyr52Cys, NP_001278400.1:p.Tyr52Cys, NP_001278401.1:p.Tyr52Cys, NP_001278402.1:p.Tyr52Cys, NP_001278397.1:p.Tyr52Cys

Select item 14542241486.

rs1454224148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36211189 (GRCh38)
17:34538591 (GRCh37)
Canonical SPDI:: NC_000017.11:36211188:C:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000927/11 (ALFA)
T=0.001681/230 (GnomAD)
T=0.002967/19 (1000Genomes)
HGVS:: NC_000017.11:g.36211189C>T, NG_026174.1:g.49712C>T, NT_187661.1:g.165326C>T, NC_000017.10:g.34538591C>T, NT_187614.1:g.446093C>T, NW_003315949.1:g.95945C>T, NM_001291470.2:c.48C>T, NM_001291470.1:c.48C>T, NM_001291469.2:c.48C>T, NM_001291469.1:c.48C>T, NM_001291475.2:c.48C>T, NM_001291475.1:c.48C>T, NM_001291471.2:c.48C>T, NM_001291471.1:c.48C>T, NM_001291472.2:c.48C>T, NM_001291472.1:c.48C>T, NM_001291473.2:c.48C>T, NM_001291473.1:c.48C>T, NM_001291474.2:c.48C>T, NM_001291474.1:c.48C>T, NM_001291468.2:c.48C>T, NM_001291468.1:c.48C>T, NR_111970.2:n.127C>T, NR_111970.1:n.127C>T, NM_207007.2:c.48C>T, NM_207007.3:c.48C>T, NM_001001435.2:c.48C>T

Select item 14510613307.

rs1451061330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:36211826 (GRCh38)
17:34539228 (GRCh37)
Canonical SPDI:: NC_000017.11:36211825:C:A
Gene:: CCL4L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36211826C>A, NG_026174.1:g.50349C>A, NT_187661.1:g.165963C>A, NC_000017.10:g.34539228C>A, NT_187614.1:g.446730C>A, NW_003315949.1:g.96582C>A, NM_001291470.2:c.127C>A, NM_001291470.1:c.127C>A, NM_001291469.2:c.127C>A, NM_001291469.1:c.127C>A, NM_001291475.2:c.127C>A, NM_001291475.1:c.127C>A, NM_001291471.2:c.127C>A, NM_001291471.1:c.127C>A, NM_001291472.2:c.127C>A, NM_001291472.1:c.127C>A, NM_001291473.2:c.127C>A, NM_001291473.1:c.127C>A, NM_001291468.2:c.127C>A, NM_001291468.1:c.127C>A, NM_207007.2:c.127C>A, NM_207007.3:c.127C>A, NM_001001435.2:c.127C>A, NP_001278399.1:p.Leu43Ile, NP_001278398.1:p.Leu43Ile, NP_001278404.1:p.Leu43Ile, NP_001278400.1:p.Leu43Ile, NP_001278401.1:p.Leu43Ile, NP_001278402.1:p.Leu43Ile, NP_001278397.1:p.Leu43Ile

Select item 14455181218.

rs1445518121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36211207 (GRCh38)
17:34538609 (GRCh37)
Canonical SPDI:: NC_000017.11:36211206:C:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36211207C>T, NG_026174.1:g.49730C>T, NT_187661.1:g.165344C>T, NC_000017.10:g.34538609C>T, NT_187614.1:g.446111C>T, NW_003315949.1:g.95963C>T, NM_001291470.2:c.66C>T, NM_001291470.1:c.66C>T, NM_001291469.2:c.66C>T, NM_001291469.1:c.66C>T, NM_001291475.2:c.66C>T, NM_001291475.1:c.66C>T, NM_001291471.2:c.66C>T, NM_001291471.1:c.66C>T, NM_001291472.2:c.66C>T, NM_001291472.1:c.66C>T, NM_001291473.2:c.66C>T, NM_001291473.1:c.66C>T, NM_001291474.2:c.66C>T, NM_001291474.1:c.66C>T, NM_001291468.2:c.66C>T, NM_001291468.1:c.66C>T, NR_111970.2:n.145C>T, NR_111970.1:n.145C>T, NM_207007.2:c.66C>T, NM_207007.3:c.66C>T, NM_001001435.2:c.66C>T

Select item 14426931509.

rs1442693150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:36211868 (GRCh38)
17:34539270 (GRCh37)
Canonical SPDI:: NC_000017.11:36211867:C:A
Gene:: CCL4L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.36211868C>A, NG_026174.1:g.50391C>A, NT_187661.1:g.166005C>A, NC_000017.10:g.34539270C>A, NT_187614.1:g.446772C>A, NW_003315949.1:g.96624C>A, NM_001291470.2:c.169C>A, NM_001291470.1:c.169C>A, NM_001291469.2:c.169C>A, NM_001291469.1:c.169C>A, NM_001291475.2:c.169C>A, NM_001291475.1:c.169C>A, NM_001291471.2:c.169C>A, NM_001291471.1:c.169C>A, NM_001291472.2:c.169C>A, NM_001291472.1:c.169C>A, NM_001291473.2:c.169C>A, NM_001291473.1:c.169C>A, NM_001291468.2:c.169C>A, NM_001291468.1:c.169C>A, NM_207007.2:c.169C>A, NM_207007.3:c.169C>A, NM_001001435.2:c.169C>A, NP_001278399.1:p.Leu57Ile, NP_001278398.1:p.Leu57Ile, NP_001278404.1:p.Leu57Ile, NP_001278400.1:p.Leu57Ile, NP_001278401.1:p.Leu57Ile, NP_001278402.1:p.Leu57Ile, NP_001278397.1:p.Leu57Ile

Select item 142629766110.

rs1426297661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:36211883 (GRCh38)
17:34539285 (GRCh37)
Canonical SPDI:: NC_000017.11:36211882:G:C,NC_000017.11:36211882:G:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36211883G>C, NC_000017.11:g.36211883G>T, NG_026174.1:g.50406G>C, NG_026174.1:g.50406G>T, NT_187661.1:g.166020G>C, NT_187661.1:g.166020G>T, NC_000017.10:g.34539285G>C, NC_000017.10:g.34539285G>T, NT_187614.1:g.446787G>C, NT_187614.1:g.446787G>T, NW_003315949.1:g.96639G>C, NW_003315949.1:g.96639G>T, NM_001291470.2:c.184G>C, NM_001291470.2:c.184G>T, NM_001291470.1:c.184G>C, NM_001291470.1:c.184G>T, NM_001291469.2:c.184G>C, NM_001291469.2:c.184G>T, NM_001291469.1:c.184G>C, NM_001291469.1:c.184G>T, NM_001291475.2:c.184G>C, NM_001291475.2:c.184G>T, NM_001291475.1:c.184G>C, NM_001291475.1:c.184G>T, NM_001291471.2:c.184G>C, NM_001291471.2:c.184G>T, NM_001291471.1:c.184G>C, NM_001291471.1:c.184G>T, NM_001291472.2:c.184G>C, NM_001291472.2:c.184G>T, NM_001291472.1:c.184G>C, NM_001291472.1:c.184G>T, NM_001291473.2:c.184G>C, NM_001291473.2:c.184G>T, NM_001291473.1:c.184G>C, NM_001291473.1:c.184G>T, NM_001291468.2:c.184G>C, NM_001291468.2:c.184G>T, NM_001291468.1:c.184G>C, NM_001291468.1:c.184G>T, NM_207007.2:c.184G>C, NM_207007.2:c.184G>T, NM_207007.3:c.184G>C, NM_207007.3:c.184G>T, NM_001001435.2:c.184G>C, NM_001001435.2:c.184G>T, NP_001278399.1:p.Ala62Pro, NP_001278399.1:p.Ala62Ser, NP_001278398.1:p.Ala62Pro, NP_001278398.1:p.Ala62Ser, NP_001278404.1:p.Ala62Pro, NP_001278404.1:p.Ala62Ser, NP_001278400.1:p.Ala62Pro, NP_001278400.1:p.Ala62Ser, NP_001278401.1:p.Ala62Pro, NP_001278401.1:p.Ala62Ser, NP_001278402.1:p.Ala62Pro, NP_001278402.1:p.Ala62Ser, NP_001278397.1:p.Ala62Pro, NP_001278397.1:p.Ala62Ser

Select item 140903019911.

rs1409030199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:36211853 (GRCh38)
17:34539255 (GRCh37)
Canonical SPDI:: NC_000017.11:36211852:T:C
Gene:: CCL4L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.36211853T>C, NG_026174.1:g.50376T>C, NT_187661.1:g.165990T>C, NC_000017.10:g.34539255T>C, NT_187614.1:g.446757T>C, NW_003315949.1:g.96609T>C, NM_001291470.2:c.154T>C, NM_001291470.1:c.154T>C, NM_001291469.2:c.154T>C, NM_001291469.1:c.154T>C, NM_001291475.2:c.154T>C, NM_001291475.1:c.154T>C, NM_001291471.2:c.154T>C, NM_001291471.1:c.154T>C, NM_001291472.2:c.154T>C, NM_001291472.1:c.154T>C, NM_001291473.2:c.154T>C, NM_001291473.1:c.154T>C, NM_001291468.2:c.154T>C, NM_001291468.1:c.154T>C, NM_207007.2:c.154T>C, NM_207007.3:c.154T>C, NM_001001435.2:c.154T>C, NP_001278399.1:p.Tyr52His, NP_001278398.1:p.Tyr52His, NP_001278404.1:p.Tyr52His, NP_001278400.1:p.Tyr52His, NP_001278401.1:p.Tyr52His, NP_001278402.1:p.Tyr52His, NP_001278397.1:p.Tyr52His

Select item 140642450712.

rs1406424507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36211174 (GRCh38)
17:34538576 (GRCh37)
Canonical SPDI:: NC_000017.11:36211173:C:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000142/4 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.36211174C>T, NG_026174.1:g.49697C>T, NT_187661.1:g.165311C>T, NC_000017.10:g.34538576C>T, NT_187614.1:g.446078C>T, NW_003315949.1:g.95930C>T, NM_001291470.2:c.33C>T, NM_001291470.1:c.33C>T, NM_001291469.2:c.33C>T, NM_001291469.1:c.33C>T, NM_001291475.2:c.33C>T, NM_001291475.1:c.33C>T, NM_001291471.2:c.33C>T, NM_001291471.1:c.33C>T, NM_001291472.2:c.33C>T, NM_001291472.1:c.33C>T, NM_001291473.2:c.33C>T, NM_001291473.1:c.33C>T, NM_001291474.2:c.33C>T, NM_001291474.1:c.33C>T, NM_001291468.2:c.33C>T, NM_001291468.1:c.33C>T, NR_111970.2:n.112C>T, NR_111970.1:n.112C>T, NM_207007.2:c.33C>T, NM_207007.3:c.33C>T, NM_001001435.2:c.33C>T

Select item 140532886413.

rs1405328864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36212432 (GRCh38)
17:34539834 (GRCh37)
Canonical SPDI:: NC_000017.11:36212431:G:A
Gene:: CCL4L2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000568/8 (TOMMO)
HGVS:: NC_000017.11:g.36212432G>A, NG_026174.1:g.50955G>A, NT_187661.1:g.166569G>A, NC_000017.10:g.34539834G>A, NT_187614.1:g.447336G>A, NW_003315949.1:g.97188G>A, NM_001291470.2:c.*538G>A, NM_001291470.1:c.*538G>A, NM_001291469.2:c.*136G>A, NM_001291469.1:c.*136G>A, NM_001291475.2:c.*9G>A, NM_001291475.1:c.*9G>A, NM_001291471.2:c.311G>A, NM_001291471.1:c.311G>A, NM_001291472.2:c.290G>A, NM_001291472.1:c.290G>A, NM_001291473.2:c.260G>A, NM_001291473.1:c.260G>A, NM_001291474.2:c.*9G>A, NM_001291474.1:c.*9G>A

Select item 140262478714.

rs1402624787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36211160 (GRCh38)
17:34538562 (GRCh37)
Canonical SPDI:: NC_000017.11:36211159:G:A
Gene:: CCL4L2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000044/6 (GnomAD)
HGVS:: NC_000017.11:g.36211160G>A, NG_026174.1:g.49683G>A, NT_187661.1:g.165297G>A, NC_000017.10:g.34538562G>A, NT_187614.1:g.446064G>A, NW_003315949.1:g.95916G>A, NM_001291470.2:c.19G>A, NM_001291470.1:c.19G>A, NM_001291469.2:c.19G>A, NM_001291469.1:c.19G>A, NM_001291475.2:c.19G>A, NM_001291475.1:c.19G>A, NM_001291471.2:c.19G>A, NM_001291471.1:c.19G>A, NM_001291472.2:c.19G>A, NM_001291472.1:c.19G>A, NM_001291473.2:c.19G>A, NM_001291473.1:c.19G>A, NM_001291474.2:c.19G>A, NM_001291474.1:c.19G>A, NM_001291468.2:c.19G>A, NM_001291468.1:c.19G>A, NR_111970.2:n.98G>A, NR_111970.1:n.98G>A, NM_207007.2:c.19G>A, NM_207007.3:c.19G>A, NM_001001435.2:c.19G>A, NP_001278399.1:p.Val7Ile, NP_001278398.1:p.Val7Ile, NP_001278404.1:p.Val7Ile, NP_001278400.1:p.Val7Ile, NP_001278401.1:p.Val7Ile, NP_001278402.1:p.Val7Ile, NP_001278403.1:p.Val7Ile, NP_001278397.1:p.Val7Ile

Select item 138724604315.

rs1387246043 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTACCACAGGC>- [Show Flanks]
Chromosome:: 17:36212404 (GRCh38)
17:34539806 (GRCh37)
Canonical SPDI:: NC_000017.11:36212401:GCCTACCACAGGC:GC
Gene:: CCL4L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.000337/4 (ALFA)
-=0.000142/4 (TOMMO)
-=0.000183/25 (GnomAD)
HGVS:: NC_000017.11:g.36212404_36212414del, NG_026174.1:g.50927_50937del, NT_187661.1:g.166541_166551del, NC_000017.10:g.34539806_34539816del, NT_187614.1:g.447308_447318del, NW_003315949.1:g.97160_97170del, NM_001291470.2:c.*510_*520del, NM_001291470.1:c.*510_*520del, NM_001291469.2:c.*108_*118del, NM_001291469.1:c.*108_*118del, NM_001291475.2:c.293_303del, NM_001291475.1:c.293_303del, NM_001291471.2:c.283_293del, NM_001291471.1:c.283_293del, NM_001291472.2:c.262_272del, NM_001291472.1:c.262_272del, NM_001291473.2:c.232_242del, NM_001291473.1:c.232_242del, NM_001291474.2:c.188_198del, NM_001291474.1:c.188_198del, NP_001278404.1:p.Pro98fs, NP_001278400.1:p.Leu95fs, NP_001278401.1:p.Leu88fs, NP_001278402.1:p.Leu78fs, NP_001278403.1:p.Pro63fs

Select item 136553431016.

rs1365534310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:36211194 (GRCh38)
17:34538596 (GRCh37)
Canonical SPDI:: NC_000017.11:36211193:G:A,NC_000017.11:36211193:G:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000124/17 (GnomAD)
T=0.000468/3 (1000Genomes)
HGVS:: NC_000017.11:g.36211194G>A, NC_000017.11:g.36211194G>T, NG_026174.1:g.49717G>A, NG_026174.1:g.49717G>T, NT_187661.1:g.165331G>A, NT_187661.1:g.165331G>T, NC_000017.10:g.34538596G>A, NC_000017.10:g.34538596G>T, NT_187614.1:g.446098G>A, NT_187614.1:g.446098G>T, NW_003315949.1:g.95950G>A, NW_003315949.1:g.95950G>T, NM_001291470.2:c.53G>A, NM_001291470.2:c.53G>T, NM_001291470.1:c.53G>A, NM_001291470.1:c.53G>T, NM_001291469.2:c.53G>A, NM_001291469.2:c.53G>T, NM_001291469.1:c.53G>A, NM_001291469.1:c.53G>T, NM_001291475.2:c.53G>A, NM_001291475.2:c.53G>T, NM_001291475.1:c.53G>A, NM_001291475.1:c.53G>T, NM_001291471.2:c.53G>A, NM_001291471.2:c.53G>T, NM_001291471.1:c.53G>A, NM_001291471.1:c.53G>T, NM_001291472.2:c.53G>A, NM_001291472.2:c.53G>T, NM_001291472.1:c.53G>A, NM_001291472.1:c.53G>T, NM_001291473.2:c.53G>A, NM_001291473.2:c.53G>T, NM_001291473.1:c.53G>A, NM_001291473.1:c.53G>T, NM_001291474.2:c.53G>A, NM_001291474.2:c.53G>T, NM_001291474.1:c.53G>A, NM_001291474.1:c.53G>T, NM_001291468.2:c.53G>A, NM_001291468.2:c.53G>T, NM_001291468.1:c.53G>A, NM_001291468.1:c.53G>T, NR_111970.2:n.132G>A, NR_111970.2:n.132G>T, NR_111970.1:n.132G>A, NR_111970.1:n.132G>T, NM_207007.2:c.53G>A, NM_207007.2:c.53G>T, NM_207007.3:c.53G>A, NM_207007.3:c.53G>T, NM_001001435.2:c.53G>A, NM_001001435.2:c.53G>T, NP_001278399.1:p.Cys18Tyr, NP_001278399.1:p.Cys18Phe, NP_001278398.1:p.Cys18Tyr, NP_001278398.1:p.Cys18Phe, NP_001278404.1:p.Cys18Tyr, NP_001278404.1:p.Cys18Phe, NP_001278400.1:p.Cys18Tyr, NP_001278400.1:p.Cys18Phe, NP_001278401.1:p.Cys18Tyr, NP_001278401.1:p.Cys18Phe, NP_001278402.1:p.Cys18Tyr, NP_001278402.1:p.Cys18Phe, NP_001278403.1:p.Cys18Tyr, NP_001278403.1:p.Cys18Phe, NP_001278397.1:p.Cys18Tyr, NP_001278397.1:p.Cys18Phe

Select item 135562361017.

rs1355623610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36211798 (GRCh38)
17:34539200 (GRCh37)
Canonical SPDI:: NC_000017.11:36211797:C:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.36211798C>T, NG_026174.1:g.50321C>T, NT_187661.1:g.165935C>T, NC_000017.10:g.34539200C>T, NT_187614.1:g.446702C>T, NW_003315949.1:g.96554C>T, NM_001291470.2:c.99C>T, NM_001291470.1:c.99C>T, NM_001291469.2:c.99C>T, NM_001291469.1:c.99C>T, NM_001291475.2:c.99C>T, NM_001291475.1:c.99C>T, NM_001291471.2:c.99C>T, NM_001291471.1:c.99C>T, NM_001291472.2:c.99C>T, NM_001291472.1:c.99C>T, NM_001291473.2:c.99C>T, NM_001291473.1:c.99C>T, NM_001291468.2:c.99C>T, NM_001291468.1:c.99C>T, NM_207007.2:c.99C>T, NM_207007.3:c.99C>T, NM_001001435.2:c.99C>T

Select item 134433602818.

rs1344336028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36211169 (GRCh38)
17:34538571 (GRCh37)
Canonical SPDI:: NC_000017.11:36211168:C:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.36211169C>T, NG_026174.1:g.49692C>T, NT_187661.1:g.165306C>T, NC_000017.10:g.34538571C>T, NT_187614.1:g.446073C>T, NW_003315949.1:g.95925C>T, NM_001291470.2:c.28C>T, NM_001291470.1:c.28C>T, NM_001291469.2:c.28C>T, NM_001291469.1:c.28C>T, NM_001291475.2:c.28C>T, NM_001291475.1:c.28C>T, NM_001291471.2:c.28C>T, NM_001291471.1:c.28C>T, NM_001291472.2:c.28C>T, NM_001291472.1:c.28C>T, NM_001291473.2:c.28C>T, NM_001291473.1:c.28C>T, NM_001291474.2:c.28C>T, NM_001291474.1:c.28C>T, NM_001291468.2:c.28C>T, NM_001291468.1:c.28C>T, NR_111970.2:n.107C>T, NR_111970.1:n.107C>T, NM_207007.2:c.28C>T, NM_207007.3:c.28C>T, NM_001001435.2:c.28C>T, NP_001278399.1:p.Leu10Phe, NP_001278398.1:p.Leu10Phe, NP_001278404.1:p.Leu10Phe, NP_001278400.1:p.Leu10Phe, NP_001278401.1:p.Leu10Phe, NP_001278402.1:p.Leu10Phe, NP_001278403.1:p.Leu10Phe, NP_001278397.1:p.Leu10Phe

Select item 131970654219.

rs1319706542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36211818 (GRCh38)
17:34539220 (GRCh37)
Canonical SPDI:: NC_000017.11:36211817:C:T
Gene:: CCL4L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/1 (GnomAD_exomes)
T=0.000037/5 (GnomAD)
HGVS:: NC_000017.11:g.36211818C>T, NG_026174.1:g.50341C>T, NT_187661.1:g.165955C>T, NC_000017.10:g.34539220C>T, NT_187614.1:g.446722C>T, NW_003315949.1:g.96574C>T, NM_001291470.2:c.119C>T, NM_001291470.1:c.119C>T, NM_001291469.2:c.119C>T, NM_001291469.1:c.119C>T, NM_001291475.2:c.119C>T, NM_001291475.1:c.119C>T, NM_001291471.2:c.119C>T, NM_001291471.1:c.119C>T, NM_001291472.2:c.119C>T, NM_001291472.1:c.119C>T, NM_001291473.2:c.119C>T, NM_001291473.1:c.119C>T, NM_001291468.2:c.119C>T, NM_001291468.1:c.119C>T, NM_207007.2:c.119C>T, NM_207007.3:c.119C>T, NM_001001435.2:c.119C>T, NP_001278399.1:p.Ala40Val, NP_001278398.1:p.Ala40Val, NP_001278404.1:p.Ala40Val, NP_001278400.1:p.Ala40Val, NP_001278401.1:p.Ala40Val, NP_001278402.1:p.Ala40Val, NP_001278397.1:p.Ala40Val

Select item 131680002520.

rs1316800025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:36212401 (GRCh38)
17:34539803 (GRCh37)
Canonical SPDI:: NC_000017.11:36212400:T:A,NC_000017.11:36212400:T:C
Gene:: CCL4L2 (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)
HGVS:: NC_000017.11:g.36212401T>A, NC_000017.11:g.36212401T>C, NG_026174.1:g.50924T>A, NG_026174.1:g.50924T>C, NT_187661.1:g.166538T>A, NT_187661.1:g.166538T>C, NC_000017.10:g.34539803T>A, NC_000017.10:g.34539803T>C, NT_187614.1:g.447305T>A, NT_187614.1:g.447305T>C, NW_003315949.1:g.97157T>A, NW_003315949.1:g.97157T>C, NM_001291470.2:c.*507T>A, NM_001291470.2:c.*507T>C, NM_001291470.1:c.*507T>A, NM_001291470.1:c.*507T>C, NM_001291469.2:c.*105T>A, NM_001291469.2:c.*105T>C, NM_001291469.1:c.*105T>A, NM_001291469.1:c.*105T>C, NM_001291475.2:c.290T>A, NM_001291475.2:c.290T>C, NM_001291475.1:c.290T>A, NM_001291475.1:c.290T>C, NM_001291471.2:c.280T>A, NM_001291471.2:c.280T>C, NM_001291471.1:c.280T>A, NM_001291471.1:c.280T>C, NM_001291472.2:c.259T>A, NM_001291472.2:c.259T>C, NM_001291472.1:c.259T>A, NM_001291472.1:c.259T>C, NM_001291473.2:c.229T>A, NM_001291473.2:c.229T>C, NM_001291473.1:c.229T>A, NM_001291473.1:c.229T>C, NM_001291474.2:c.185T>A, NM_001291474.2:c.185T>C, NM_001291474.1:c.185T>A, NM_001291474.1:c.185T>C, NP_001278404.1:p.Met97Lys, NP_001278404.1:p.Met97Thr, NP_001278400.1:p.Cys94Ser, NP_001278400.1:p.Cys94Arg, NP_001278401.1:p.Cys87Ser, NP_001278401.1:p.Cys87Arg, NP_001278402.1:p.Cys77Ser, NP_001278402.1:p.Cys77Arg, NP_001278403.1:p.Met62Lys, NP_001278403.1:p.Met62Thr

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