SNP Links for Protein (Select 352962149) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53411096 (GRCh38)
12:53804880 (GRCh37)
Canonical SPDI:: NC_000012.12:53411095:C:T
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.53411096C>T, NC_000012.11:g.53804880C>T, NG_030361.1:g.35902C>T, NM_138473.3:c.2214C>T, NM_138473.2:c.2214C>T, NM_001251825.2:c.2070C>T, NM_001251825.1:c.2070C>T, NM_003109.1:c.2193C>T

Select item 147565977213.

rs1475659772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53381769 (GRCh38)
12:53775553 (GRCh37)
Canonical SPDI:: NC_000012.12:53381768:A:G
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53381769A>G, NC_000012.11:g.53775553A>G, NG_030361.1:g.6575A>G, NM_138473.3:c.118A>G, NM_138473.2:c.118A>G, NM_001251825.2:c.118A>G, NM_001251825.1:c.118A>G, NM_003109.1:c.97A>G, NP_612482.2:p.Ser40Gly, NP_001238754.1:p.Ser40Gly, NP_003100.1:p.Ser33Gly

Select item 147175466214.

rs1471754662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53381780 (GRCh38)
12:53775564 (GRCh37)
Canonical SPDI:: NC_000012.12:53381779:A:G
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53381780A>G, NC_000012.11:g.53775564A>G, NG_030361.1:g.6586A>G, NM_138473.3:c.129A>G, NM_138473.2:c.129A>G, NM_001251825.2:c.129A>G, NM_001251825.1:c.129A>G, NM_003109.1:c.108A>G

Select item 147153077615.

rs1471530776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53381803 (GRCh38)
12:53775587 (GRCh37)
Canonical SPDI:: NC_000012.12:53381802:G:A
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.53381803G>A, NC_000012.11:g.53775587G>A, NG_030361.1:g.6609G>A, NM_138473.3:c.152G>A, NM_138473.2:c.152G>A, NM_001251825.2:c.152G>A, NM_001251825.1:c.152G>A, NM_003109.1:c.131G>A, NP_612482.2:p.Gly51Glu, NP_001238754.1:p.Gly51Glu, NP_003100.1:p.Gly44Glu

Select item 147061124216.

rs1470611242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53411105 (GRCh38)
12:53804889 (GRCh37)
Canonical SPDI:: NC_000012.12:53411104:A:G
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53411105A>G, NC_000012.11:g.53804889A>G, NG_030361.1:g.35911A>G, NM_138473.3:c.2223A>G, NM_138473.2:c.2223A>G, NM_001251825.2:c.2079A>G, NM_001251825.1:c.2079A>G, NM_003109.1:c.2202A>G

Select item 146961909017.

rs1469619090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:53383450 (GRCh38)
12:53777234 (GRCh37)
Canonical SPDI:: NC_000012.12:53383449:T:A,NC_000012.12:53383449:T:C
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53383450T>A, NC_000012.12:g.53383450T>C, NC_000012.11:g.53777234T>A, NC_000012.11:g.53777234T>C, NG_030361.1:g.8256T>A, NG_030361.1:g.8256T>C, NM_138473.3:c.1503T>A, NM_138473.3:c.1503T>C, NM_138473.2:c.1503T>A, NM_138473.2:c.1503T>C, NM_001251825.2:c.1359T>A, NM_001251825.2:c.1359T>C, NM_001251825.1:c.1359T>A, NM_001251825.1:c.1359T>C, NM_003109.1:c.1482T>A, NM_003109.1:c.1482T>C

Select item 146953889818.

rs1469538898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53382627 (GRCh38)
12:53776411 (GRCh37)
Canonical SPDI:: NC_000012.12:53382626:C:G
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53382627C>G, NC_000012.11:g.53776411C>G, NG_030361.1:g.7433C>G, NM_138473.3:c.680C>G, NM_138473.2:c.680C>G, NM_001251825.2:c.536C>G, NM_001251825.1:c.536C>G, NM_003109.1:c.659C>G, NP_612482.2:p.Ala227Gly, NP_001238754.1:p.Ala179Gly, NP_003100.1:p.Ala220Gly

Select item 146902751619.

rs1469027516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53411235 (GRCh38)
12:53805019 (GRCh37)
Canonical SPDI:: NC_000012.12:53411234:T:C
Gene:: SP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53411235T>C, NC_000012.11:g.53805019T>C, NG_030361.1:g.36041T>C, NM_138473.3:c.2353T>C, NM_138473.2:c.2353T>C, NM_001251825.2:c.2209T>C, NM_001251825.1:c.2209T>C, NM_003109.1:c.2332T>C, NP_612482.2:p.Phe785Leu, NP_001238754.1:p.Phe737Leu, NP_003100.1:p.Phe778Leu

Select item 146641826920.

rs1466418269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53383129 (GRCh38)
12:53776913 (GRCh37)
Canonical SPDI:: NC_000012.12:53383128:A:G
Gene:: SP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.53383129A>G, NC_000012.11:g.53776913A>G, NG_030361.1:g.7935A>G, NM_138473.3:c.1182A>G, NM_138473.2:c.1182A>G, NM_001251825.2:c.1038A>G, NM_001251825.1:c.1038A>G, NM_003109.1:c.1161A>G

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