SNP Links for Protein (Select 612407839) - SNP

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Links from Protein

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Select item 14910850451.

rs1491085045 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:44386639 (GRCh38)
19:44890801 (GRCh37)
Canonical SPDI:: NC_000019.10:44386638:CT:
Gene:: ZNF285 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44386639_44386640del, NC_000019.9:g.44890801T>C, NC_000019.9:g.44890801_44890802del, NM_152354.6:c.1605_1606del, NM_152354.5:c.1605_1606del, NM_152354.4:c.1606A>G, NM_152354.4:c.1605_1606del, NM_152354.3:c.1606A>G, NM_152354.3:c.1605_1606del, NM_001291490.2:c.1140_1141del, NM_001291490.1:c.1140_1141del, NM_001291489.2:c.1605_1606del, NM_001291489.1:c.1605_1606del, NM_001291488.2:c.1626_1627del, NM_001291488.1:c.1626_1627del, NM_001291491.2:c.1140_1141del, NM_001291491.1:c.1140_1141del, NP_689567.4:p.Gly536fs, NP_001278419.1:p.Gly381fs, NP_001278418.1:p.Gly536fs, NP_001278417.1:p.Gly543fs, NP_001278420.1:p.Gly381fs

Select item 14897817042.

rs1489781704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44387569 (GRCh38)
19:44891731 (GRCh37)
Canonical SPDI:: NC_000019.10:44387568:G:C
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44387569G>C, NC_000019.9:g.44891731G>C, NM_152354.6:c.676C>G, NM_152354.5:c.676C>G, NM_152354.4:c.676C>G, NM_152354.3:c.676C>G, NM_001291490.2:c.211C>G, NM_001291490.1:c.211C>G, NM_001291489.2:c.676C>G, NM_001291489.1:c.676C>G, NM_001291488.2:c.697C>G, NM_001291488.1:c.697C>G, NM_001291491.2:c.211C>G, NM_001291491.1:c.211C>G, NP_689567.4:p.His226Asp, NP_001278419.1:p.His71Asp, NP_001278418.1:p.His226Asp, NP_001278417.1:p.His233Asp, NP_001278420.1:p.His71Asp

Select item 14885466163.

rs1488546616 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 19:44386534 (GRCh38)
19:44890697 (GRCh37)
Canonical SPDI:: NC_000019.10:44386534::AT
Gene:: ZNF285 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
AT=0.000007/1 (GnomAD)
AT=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.44386534_44386535insAT, NC_000019.9:g.44890697_44890698dup, NM_152354.6:c.1710_1711insAT, NM_152354.5:c.1710_1711insAT, NM_152354.4:c.1710_1711insAT, NM_152354.3:c.1709_1710dup, NM_001291490.2:c.1245_1246insAT, NM_001291490.1:c.1245_1246insAT, NM_001291489.2:c.1710_1711insAT, NM_001291489.1:c.1710_1711insAT, NM_001291488.2:c.1731_1732insAT, NM_001291488.1:c.1731_1732insAT, NM_001291491.2:c.1245_1246insAT, NM_001291491.1:c.1245_1246insAT, NP_689567.4:p.Cys571fs, NP_001278419.1:p.Cys416fs, NP_001278418.1:p.Cys571fs, NP_001278417.1:p.Cys578fs, NP_001278420.1:p.Cys416fs

Select item 14865035564.

rs1486503556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:44386958 (GRCh38)
19:44891120 (GRCh37)
Canonical SPDI:: NC_000019.10:44386957:C:A,NC_000019.10:44386957:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.44386958C>A, NC_000019.10:g.44386958C>T, NC_000019.9:g.44891120C>A, NC_000019.9:g.44891120C>T, NM_152354.6:c.1287G>T, NM_152354.6:c.1287G>A, NM_152354.5:c.1287G>T, NM_152354.5:c.1287G>A, NM_152354.4:c.1287G>T, NM_152354.4:c.1287G>A, NM_152354.3:c.1287G>T, NM_152354.3:c.1287G>A, NM_001291490.2:c.822G>T, NM_001291490.2:c.822G>A, NM_001291490.1:c.822G>T, NM_001291490.1:c.822G>A, NM_001291489.2:c.1287G>T, NM_001291489.2:c.1287G>A, NM_001291489.1:c.1287G>T, NM_001291489.1:c.1287G>A, NM_001291488.2:c.1308G>T, NM_001291488.2:c.1308G>A, NM_001291488.1:c.1308G>T, NM_001291488.1:c.1308G>A, NM_001291491.2:c.822G>T, NM_001291491.2:c.822G>A, NM_001291491.1:c.822G>T, NM_001291491.1:c.822G>A, NP_689567.4:p.Arg429Ser, NP_001278419.1:p.Arg274Ser, NP_001278418.1:p.Arg429Ser, NP_001278417.1:p.Arg436Ser, NP_001278420.1:p.Arg274Ser

Select item 14850821085.

rs1485082108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44387524 (GRCh38)
19:44891686 (GRCh37)
Canonical SPDI:: NC_000019.10:44387523:A:G
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44387524A>G, NC_000019.9:g.44891686A>G, NM_152354.6:c.721T>C, NM_152354.5:c.721T>C, NM_152354.4:c.721T>C, NM_152354.3:c.721T>C, NM_001291490.2:c.256T>C, NM_001291490.1:c.256T>C, NM_001291489.2:c.721T>C, NM_001291489.1:c.721T>C, NM_001291488.2:c.742T>C, NM_001291488.1:c.742T>C, NM_001291491.2:c.256T>C, NM_001291491.1:c.256T>C, NP_689567.4:p.Phe241Leu, NP_001278419.1:p.Phe86Leu, NP_001278418.1:p.Phe241Leu, NP_001278417.1:p.Phe248Leu, NP_001278420.1:p.Phe86Leu

Select item 14820815926.

rs1482081592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:44386481 (GRCh38)
19:44890643 (GRCh37)
Canonical SPDI:: NC_000019.10:44386480:T:G
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44386481T>G, NC_000019.9:g.44890643T>G, NM_152354.6:c.1764A>C, NM_152354.5:c.1764A>C, NM_152354.4:c.1764A>C, NM_152354.3:c.1764A>C, NM_001291490.2:c.1299A>C, NM_001291490.1:c.1299A>C, NM_001291489.2:c.1764A>C, NM_001291489.1:c.1764A>C, NM_001291488.2:c.1785A>C, NM_001291488.1:c.1785A>C, NM_001291491.2:c.1299A>C, NM_001291491.1:c.1299A>C, NP_689567.4:p.Glu588Asp, NP_001278419.1:p.Glu433Asp, NP_001278418.1:p.Glu588Asp, NP_001278417.1:p.Glu595Asp, NP_001278420.1:p.Glu433Asp

Select item 14819895957.

rs1481989595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:44387238 (GRCh38)
19:44891400 (GRCh37)
Canonical SPDI:: NC_000019.10:44387237:C:A,NC_000019.10:44387237:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44387238C>A, NC_000019.10:g.44387238C>T, NC_000019.9:g.44891400C>A, NC_000019.9:g.44891400C>T, NM_152354.6:c.1007G>T, NM_152354.6:c.1007G>A, NM_152354.5:c.1007G>T, NM_152354.5:c.1007G>A, NM_152354.4:c.1007G>T, NM_152354.4:c.1007G>A, NM_152354.3:c.1007G>T, NM_152354.3:c.1007G>A, NM_001291490.2:c.542G>T, NM_001291490.2:c.542G>A, NM_001291490.1:c.542G>T, NM_001291490.1:c.542G>A, NM_001291489.2:c.1007G>T, NM_001291489.2:c.1007G>A, NM_001291489.1:c.1007G>T, NM_001291489.1:c.1007G>A, NM_001291488.2:c.1028G>T, NM_001291488.2:c.1028G>A, NM_001291488.1:c.1028G>T, NM_001291488.1:c.1028G>A, NM_001291491.2:c.542G>T, NM_001291491.2:c.542G>A, NM_001291491.1:c.542G>T, NM_001291491.1:c.542G>A, NP_689567.4:p.Arg336Leu, NP_689567.4:p.Arg336Gln, NP_001278419.1:p.Arg181Leu, NP_001278419.1:p.Arg181Gln, NP_001278418.1:p.Arg336Leu, NP_001278418.1:p.Arg336Gln, NP_001278417.1:p.Arg343Leu, NP_001278417.1:p.Arg343Gln, NP_001278420.1:p.Arg181Leu, NP_001278420.1:p.Arg181Gln

Select item 14817635868.

rs1481763586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44386498 (GRCh38)
19:44890660 (GRCh37)
Canonical SPDI:: NC_000019.10:44386497:G:C
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44386498G>C, NC_000019.9:g.44890660G>C, NM_152354.6:c.1747C>G, NM_152354.5:c.1747C>G, NM_152354.4:c.1747C>G, NM_152354.3:c.1747C>G, NM_001291490.2:c.1282C>G, NM_001291490.1:c.1282C>G, NM_001291489.2:c.1747C>G, NM_001291489.1:c.1747C>G, NM_001291488.2:c.1768C>G, NM_001291488.1:c.1768C>G, NM_001291491.2:c.1282C>G, NM_001291491.1:c.1282C>G, NP_689567.4:p.Leu583Val, NP_001278419.1:p.Leu428Val, NP_001278418.1:p.Leu583Val, NP_001278417.1:p.Leu590Val, NP_001278420.1:p.Leu428Val

Select item 14814842849.

rs1481484284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44387105 (GRCh38)
19:44891267 (GRCh37)
Canonical SPDI:: NC_000019.10:44387104:G:C
Gene:: ZNF285 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44387105G>C, NC_000019.9:g.44891267G>C, NM_152354.6:c.1140C>G, NM_152354.5:c.1140C>G, NM_152354.4:c.1140C>G, NM_152354.3:c.1140C>G, NM_001291490.2:c.675C>G, NM_001291490.1:c.675C>G, NM_001291489.2:c.1140C>G, NM_001291489.1:c.1140C>G, NM_001291488.2:c.1161C>G, NM_001291488.1:c.1161C>G, NM_001291491.2:c.675C>G, NM_001291491.1:c.675C>G

Select item 148043810910.

rs1480438109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:44387530 (GRCh38)
19:44891692 (GRCh37)
Canonical SPDI:: NC_000019.10:44387529:C:G,NC_000019.10:44387529:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.44387530C>G, NC_000019.10:g.44387530C>T, NC_000019.9:g.44891692C>G, NC_000019.9:g.44891692C>T, NM_152354.6:c.715G>C, NM_152354.6:c.715G>A, NM_152354.5:c.715G>C, NM_152354.5:c.715G>A, NM_152354.4:c.715G>C, NM_152354.4:c.715G>A, NM_152354.3:c.715G>C, NM_152354.3:c.715G>A, NM_001291490.2:c.250G>C, NM_001291490.2:c.250G>A, NM_001291490.1:c.250G>C, NM_001291490.1:c.250G>A, NM_001291489.2:c.715G>C, NM_001291489.2:c.715G>A, NM_001291489.1:c.715G>C, NM_001291489.1:c.715G>A, NM_001291488.2:c.736G>C, NM_001291488.2:c.736G>A, NM_001291488.1:c.736G>C, NM_001291488.1:c.736G>A, NM_001291491.2:c.250G>C, NM_001291491.2:c.250G>A, NM_001291491.1:c.250G>C, NM_001291491.1:c.250G>A, NP_689567.4:p.Val239Leu, NP_689567.4:p.Val239Met, NP_001278419.1:p.Val84Leu, NP_001278419.1:p.Val84Met, NP_001278418.1:p.Val239Leu, NP_001278418.1:p.Val239Met, NP_001278417.1:p.Val246Leu, NP_001278417.1:p.Val246Met, NP_001278420.1:p.Val84Leu, NP_001278420.1:p.Val84Met

Select item 147898681711.

rs1478986817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44387848 (GRCh38)
19:44892010 (GRCh37)
Canonical SPDI:: NC_000019.10:44387847:G:C
Gene:: ZNF285 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44387848G>C, NC_000019.9:g.44892010G>C, NM_152354.6:c.397C>G, NM_152354.5:c.397C>G, NM_152354.4:c.397C>G, NM_152354.3:c.397C>G, NM_001291490.2:c.-69C>G, NM_001291490.1:c.-69C>G, NM_001291489.2:c.397C>G, NM_001291489.1:c.397C>G, NM_001291488.2:c.418C>G, NM_001291488.1:c.418C>G, NM_001291491.2:c.-69C>G, NM_001291491.1:c.-69C>G, NP_689567.4:p.Gln133Glu, NP_001278418.1:p.Gln133Glu, NP_001278417.1:p.Gln140Glu

Select item 147710422412.

rs1477104224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:44387037 (GRCh38)
19:44891199 (GRCh37)
Canonical SPDI:: NC_000019.10:44387036:C:A,NC_000019.10:44387036:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44387037C>A, NC_000019.10:g.44387037C>T, NC_000019.9:g.44891199C>A, NC_000019.9:g.44891199C>T, NM_152354.6:c.1208G>T, NM_152354.6:c.1208G>A, NM_152354.5:c.1208G>T, NM_152354.5:c.1208G>A, NM_152354.4:c.1208G>T, NM_152354.4:c.1208G>A, NM_152354.3:c.1208G>T, NM_152354.3:c.1208G>A, NM_001291490.2:c.743G>T, NM_001291490.2:c.743G>A, NM_001291490.1:c.743G>T, NM_001291490.1:c.743G>A, NM_001291489.2:c.1208G>T, NM_001291489.2:c.1208G>A, NM_001291489.1:c.1208G>T, NM_001291489.1:c.1208G>A, NM_001291488.2:c.1229G>T, NM_001291488.2:c.1229G>A, NM_001291488.1:c.1229G>T, NM_001291488.1:c.1229G>A, NM_001291491.2:c.743G>T, NM_001291491.2:c.743G>A, NM_001291491.1:c.743G>T, NM_001291491.1:c.743G>A, NP_689567.4:p.Ser403Ile, NP_689567.4:p.Ser403Asn, NP_001278419.1:p.Ser248Ile, NP_001278419.1:p.Ser248Asn, NP_001278418.1:p.Ser403Ile, NP_001278418.1:p.Ser403Asn, NP_001278417.1:p.Ser410Ile, NP_001278417.1:p.Ser410Asn, NP_001278420.1:p.Ser248Ile, NP_001278420.1:p.Ser248Asn

Select item 147600964313.

rs1476009643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44386649 (GRCh38)
19:44890811 (GRCh37)
Canonical SPDI:: NC_000019.10:44386648:T:C
Gene:: ZNF285 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.44386649T>C, NC_000019.9:g.44890811T>C, NM_152354.6:c.1596A>G, NM_152354.5:c.1596A>G, NM_152354.4:c.1596A>G, NM_152354.3:c.1596A>G, NM_001291490.2:c.1131A>G, NM_001291490.1:c.1131A>G, NM_001291489.2:c.1596A>G, NM_001291489.1:c.1596A>G, NM_001291488.2:c.1617A>G, NM_001291488.1:c.1617A>G, NM_001291491.2:c.1131A>G, NM_001291491.1:c.1131A>G

Select item 147583652814.

rs1475836528 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44387502 (GRCh38)
19:44891664 (GRCh37)
Canonical SPDI:: NC_000019.10:44387501:T:C
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.44387502T>C, NC_000019.9:g.44891664T>C, NM_152354.6:c.743A>G, NM_152354.5:c.743A>G, NM_152354.4:c.743A>G, NM_152354.3:c.743A>G, NM_001291490.2:c.278A>G, NM_001291490.1:c.278A>G, NM_001291489.2:c.743A>G, NM_001291489.1:c.743A>G, NM_001291488.2:c.764A>G, NM_001291488.1:c.764A>G, NM_001291491.2:c.278A>G, NM_001291491.1:c.278A>G, NP_689567.4:p.His248Arg, NP_001278419.1:p.His93Arg, NP_001278418.1:p.His248Arg, NP_001278417.1:p.His255Arg, NP_001278420.1:p.His93Arg

Select item 147409323515.

rs1474093235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44387253 (GRCh38)
19:44891415 (GRCh37)
Canonical SPDI:: NC_000019.10:44387252:A:G
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44387253A>G, NC_000019.9:g.44891415A>G, NM_152354.6:c.992T>C, NM_152354.5:c.992T>C, NM_152354.4:c.992T>C, NM_152354.3:c.992T>C, NM_001291490.2:c.527T>C, NM_001291490.1:c.527T>C, NM_001291489.2:c.992T>C, NM_001291489.1:c.992T>C, NM_001291488.2:c.1013T>C, NM_001291488.1:c.1013T>C, NM_001291491.2:c.527T>C, NM_001291491.1:c.527T>C, NP_689567.4:p.Leu331Pro, NP_001278419.1:p.Leu176Pro, NP_001278418.1:p.Leu331Pro, NP_001278417.1:p.Leu338Pro, NP_001278420.1:p.Leu176Pro

Select item 147333740816.

rs1473337408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44387922 (GRCh38)
19:44892084 (GRCh37)
Canonical SPDI:: NC_000019.10:44387921:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44387922C>T, NC_000019.9:g.44892084C>T, NM_152354.6:c.323G>A, NM_152354.5:c.323G>A, NM_152354.4:c.323G>A, NM_152354.3:c.323G>A, NM_001291490.2:c.-143G>A, NM_001291490.1:c.-143G>A, NM_001291489.2:c.323G>A, NM_001291489.1:c.323G>A, NM_001291488.2:c.344G>A, NM_001291488.1:c.344G>A, NM_001291491.2:c.-143G>A, NM_001291491.1:c.-143G>A, NP_689567.4:p.Ser108Asn, NP_001278418.1:p.Ser108Asn, NP_001278417.1:p.Ser115Asn

Select item 147300984917.

rs1473009849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:44387803 (GRCh38)
19:44891965 (GRCh37)
Canonical SPDI:: NC_000019.10:44387802:C:G,NC_000019.10:44387802:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44387803C>G, NC_000019.10:g.44387803C>T, NC_000019.9:g.44891965C>G, NC_000019.9:g.44891965C>T, NM_152354.6:c.442G>C, NM_152354.6:c.442G>A, NM_152354.5:c.442G>C, NM_152354.5:c.442G>A, NM_152354.4:c.442G>C, NM_152354.4:c.442G>A, NM_152354.3:c.442G>C, NM_152354.3:c.442G>A, NM_001291490.2:c.-24G>C, NM_001291490.2:c.-24G>A, NM_001291490.1:c.-24G>C, NM_001291490.1:c.-24G>A, NM_001291489.2:c.442G>C, NM_001291489.2:c.442G>A, NM_001291489.1:c.442G>C, NM_001291489.1:c.442G>A, NM_001291488.2:c.463G>C, NM_001291488.2:c.463G>A, NM_001291488.1:c.463G>C, NM_001291488.1:c.463G>A, NM_001291491.2:c.-24G>C, NM_001291491.2:c.-24G>A, NM_001291491.1:c.-24G>C, NM_001291491.1:c.-24G>A, NP_689567.4:p.Glu148Gln, NP_689567.4:p.Glu148Lys, NP_001278418.1:p.Glu148Gln, NP_001278418.1:p.Glu148Lys, NP_001278417.1:p.Glu155Gln, NP_001278417.1:p.Glu155Lys

Select item 147202657718.

rs1472026577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44387346 (GRCh38)
19:44891508 (GRCh37)
Canonical SPDI:: NC_000019.10:44387345:C:T
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.44387346C>T, NC_000019.9:g.44891508C>T, NM_152354.6:c.899G>A, NM_152354.5:c.899G>A, NM_152354.4:c.899G>A, NM_152354.3:c.899G>A, NM_001291490.2:c.434G>A, NM_001291490.1:c.434G>A, NM_001291489.2:c.899G>A, NM_001291489.1:c.899G>A, NM_001291488.2:c.920G>A, NM_001291488.1:c.920G>A, NM_001291491.2:c.434G>A, NM_001291491.1:c.434G>A, NP_689567.4:p.Ser300Asn, NP_001278419.1:p.Ser145Asn, NP_001278418.1:p.Ser300Asn, NP_001278417.1:p.Ser307Asn, NP_001278420.1:p.Ser145Asn

Select item 147058018119.

rs1470580181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44387338 (GRCh38)
19:44891500 (GRCh37)
Canonical SPDI:: NC_000019.10:44387337:G:T
Gene:: ZNF285 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44387338G>T, NC_000019.9:g.44891500G>T, NM_152354.6:c.907C>A, NM_152354.5:c.907C>A, NM_152354.4:c.907C>A, NM_152354.3:c.907C>A, NM_001291490.2:c.442C>A, NM_001291490.1:c.442C>A, NM_001291489.2:c.907C>A, NM_001291489.1:c.907C>A, NM_001291488.2:c.928C>A, NM_001291488.1:c.928C>A, NM_001291491.2:c.442C>A, NM_001291491.1:c.442C>A, NP_689567.4:p.Leu303Ile, NP_001278419.1:p.Leu148Ile, NP_001278418.1:p.Leu303Ile, NP_001278417.1:p.Leu310Ile, NP_001278420.1:p.Leu148Ile

Select item 146752730520.

rs1467527305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:44387784 (GRCh38)
19:44891946 (GRCh37)
Canonical SPDI:: NC_000019.10:44387783:T:G
Gene:: ZNF285 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44387784T>G, NC_000019.9:g.44891946T>G, NM_152354.6:c.461A>C, NM_152354.5:c.461A>C, NM_152354.4:c.461A>C, NM_152354.3:c.461A>C, NM_001291490.2:c.-5A>C, NM_001291490.1:c.-5A>C, NM_001291489.2:c.461A>C, NM_001291489.1:c.461A>C, NM_001291488.2:c.482A>C, NM_001291488.1:c.482A>C, NM_001291491.2:c.-5A>C, NM_001291491.1:c.-5A>C, NP_689567.4:p.Asn154Thr, NP_001278418.1:p.Asn154Thr, NP_001278417.1:p.Asn161Thr

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