SNP Links for Protein (Select 224451053) - SNP

Links from Protein

Items: 1 to 20 of 212

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Select item 14877938111.

rs1487793811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7770106 (GRCh38)
12:7922702 (GRCh37)
Canonical SPDI:: NC_000012.12:7770105:G:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7770106G>A, NC_000012.11:g.7922702G>A, NM_001145465.1:c.226G>A, NP_001138937.1:p.Glu76Lys

Select item 14869692132.

rs1486969213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:7770481 (GRCh38)
12:7923077 (GRCh37)
Canonical SPDI:: NC_000012.12:7770480:G:T
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.7770481G>T, NC_000012.11:g.7923077G>T, NM_001145465.1:c.478G>T, NP_001138937.1:p.Glu160Ter

Select item 14785894133.

rs1478589413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:7765368 (GRCh38)
12:7917964 (GRCh37)
Canonical SPDI:: NC_000012.12:7765367:A:T
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.7765368A>T, NC_000012.11:g.7917964A>T, NM_001145465.1:c.83A>T, NP_001138937.1:p.Glu28Val

Select item 14715872694.

rs1471587269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:7770305 (GRCh38)
12:7922901 (GRCh37)
Canonical SPDI:: NC_000012.12:7770304:C:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7770305C>A, NC_000012.11:g.7922901C>A, NM_001145465.1:c.425C>A, NP_001138937.1:p.Thr142Lys

Select item 14715462935.

rs1471546293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:7773850 (GRCh38)
12:7926446 (GRCh37)
Canonical SPDI:: NC_000012.12:7773849:G:C,NC_000012.12:7773849:G:T
Gene:: NANOGNB (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.7773850G>C, NC_000012.12:g.7773850G>T, NC_000012.11:g.7926446G>C, NC_000012.11:g.7926446G>T, NM_001145465.1:c.566G>C, NM_001145465.1:c.566G>T, NP_001138937.1:p.Ter189Ser, NP_001138937.1:p.Ter189Leu

Select item 14711130526.

rs1471113052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:7770442 (GRCh38)
12:7923038 (GRCh37)
Canonical SPDI:: NC_000012.12:7770441:A:C
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7770442A>C, NC_000012.11:g.7923038A>C, NM_001145465.1:c.439A>C, NP_001138937.1:p.Ser147Arg

Select item 14702181227.

rs1470218122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7770193 (GRCh38)
12:7922789 (GRCh37)
Canonical SPDI:: NC_000012.12:7770192:G:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000026/4 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.7770193G>A, NC_000012.11:g.7922789G>A, NM_001145465.1:c.313G>A, NP_001138937.1:p.Glu105Lys

Select item 14681092518.

rs1468109251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:7773844 (GRCh38)
12:7926440 (GRCh37)
Canonical SPDI:: NC_000012.12:7773843:T:C
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.7773844T>C, NC_000012.11:g.7926440T>C, NM_001145465.1:c.560T>C, NP_001138937.1:p.Leu187Pro

Select item 14640663899.

rs1464066389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:7765358 (GRCh38)
12:7917954 (GRCh37)
Canonical SPDI:: NC_000012.12:7765357:C:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.7765358C>A, NC_000012.11:g.7917954C>A, NM_001145465.1:c.73C>A, NP_001138937.1:p.Gln25Lys

Select item 146368427910.

rs1463684279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:7770016 (GRCh38)
12:7922612 (GRCh37)
Canonical SPDI:: NC_000012.12:7770015:G:C
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.7770016G>C, NC_000012.11:g.7922612G>C, NM_001145465.1:c.136G>C, NP_001138937.1:p.Glu46Gln

Select item 146328608111.

rs1463286081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:7770285 (GRCh38)
12:7922881 (GRCh37)
Canonical SPDI:: NC_000012.12:7770284:G:A,NC_000012.12:7770284:G:C
Gene:: NANOGNB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.7770285G>A, NC_000012.12:g.7770285G>C, NC_000012.11:g.7922881G>A, NC_000012.11:g.7922881G>C, NM_001145465.1:c.405G>A, NM_001145465.1:c.405G>C

Select item 145969484412.

rs1459694844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7770254 (GRCh38)
12:7922850 (GRCh37)
Canonical SPDI:: NC_000012.12:7770253:G:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.7770254G>A, NC_000012.11:g.7922850G>A, NM_001145465.1:c.374G>A, NP_001138937.1:p.Arg125Lys

Select item 145904153713.

rs1459041537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7765342 (GRCh38)
12:7917938 (GRCh37)
Canonical SPDI:: NC_000012.12:7765341:G:A
Gene:: NANOGNB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00025/4 (TOMMO)
HGVS:: NC_000012.12:g.7765342G>A, NC_000012.11:g.7917938G>A, NM_001145465.1:c.57G>A

Select item 145716775314.

rs1457167753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:7765349 (GRCh38)
12:7917945 (GRCh37)
Canonical SPDI:: NC_000012.12:7765348:T:A,NC_000012.12:7765348:T:C
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7765349T>A, NC_000012.12:g.7765349T>C, NC_000012.11:g.7917945T>A, NC_000012.11:g.7917945T>C, NM_001145465.1:c.64T>A, NM_001145465.1:c.64T>C, NP_001138937.1:p.Ser22Thr, NP_001138937.1:p.Ser22Pro

Select item 145589348615.

rs1455893486 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:7770115 (GRCh38)
12:7922712 (GRCh37)
Canonical SPDI:: NC_000012.12:7770115:AAAAAAA:AAAAAAAA
Gene:: NANOGNB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7770122dup, NC_000012.11:g.7922718dup, NM_001145465.1:c.242dup, NP_001138937.1:p.Asn81fs

Select item 145552017616.

rs1455520176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:7770242 (GRCh38)
12:7922838 (GRCh37)
Canonical SPDI:: NC_000012.12:7770241:T:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7770242T>A, NC_000012.11:g.7922838T>A, NM_001145465.1:c.362T>A, NP_001138937.1:p.Phe121Tyr

Select item 145457623717.

rs1454576237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:7770518 (GRCh38)
12:7923114 (GRCh37)
Canonical SPDI:: NC_000012.12:7770517:G:C,NC_000012.12:7770517:G:T
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.7770518G>C, NC_000012.12:g.7770518G>T, NC_000012.11:g.7923114G>C, NC_000012.11:g.7923114G>T, NM_001145465.1:c.515G>C, NM_001145465.1:c.515G>T, NP_001138937.1:p.Arg172Thr, NP_001138937.1:p.Arg172Ile

Select item 145325604918.

rs1453256049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7770298 (GRCh38)
12:7922894 (GRCh37)
Canonical SPDI:: NC_000012.12:7770297:G:A
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.7770298G>A, NC_000012.11:g.7922894G>A, NM_001145465.1:c.418G>A, NP_001138937.1:p.Asp140Asn

Select item 145033328119.

rs1450333281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:7770216 (GRCh38)
12:7922812 (GRCh37)
Canonical SPDI:: NC_000012.12:7770215:C:T
Gene:: NANOGNB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7770216C>T, NC_000012.11:g.7922812C>T, NM_001145465.1:c.336C>T

Select item 144869739120.

rs1448697391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:7765289 (GRCh38)
12:7917885 (GRCh37)
Canonical SPDI:: NC_000012.12:7765288:C:T
Gene:: NANOGNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.7765289C>T, NC_000012.11:g.7917885C>T, NM_001145465.1:c.4C>T, NP_001138937.1:p.His2Tyr

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