SNP Links for Protein (Select 1194445944) - SNP

Select item 14895530581.

rs1489553058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21726992 (GRCh38)
19:21909794 (GRCh37)
Canonical SPDI:: NC_000019.10:21726991:C:G
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21726992C>G, NC_000019.9:g.21909794C>G, NG_054926.1:g.45637G>C, NM_173531.4:c.1320G>C, NM_173531.3:c.1320G>C, NM_001351669.2:c.1317G>C, NM_001351669.1:c.1317G>C, NM_001351670.2:c.1221G>C, NM_001351670.1:c.1221G>C, NM_001351671.2:c.1017G>C, NM_001351671.1:c.1017G>C, NM_001351672.2:c.675G>C, NM_001351672.1:c.675G>C, NW_003315964.2:g.88182C>G, XM_047438363.1:c.1131G>C, XM_047438364.1:c.1131G>C, NP_775802.2:p.Glu440Asp, NP_001338598.1:p.Glu439Asp, NP_001338599.1:p.Glu407Asp, NP_001338600.1:p.Glu339Asp, NP_001338601.1:p.Glu225Asp, XP_047294319.1:p.Glu377Asp, XP_047294320.1:p.Glu377Asp

Select item 14892460812.

rs1489246081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:21727236 (GRCh38)
19:21910038 (GRCh37)
Canonical SPDI:: NC_000019.10:21727235:G:T
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.21727236G>T, NC_000019.9:g.21910038G>T, NG_054926.1:g.45393C>A, NM_173531.4:c.1076C>A, NM_173531.3:c.1076C>A, NM_001351669.2:c.1073C>A, NM_001351669.1:c.1073C>A, NM_001351670.2:c.977C>A, NM_001351670.1:c.977C>A, NM_001351671.2:c.773C>A, NM_001351671.1:c.773C>A, NM_001351672.2:c.431C>A, NM_001351672.1:c.431C>A, NW_003315964.2:g.88426G>T, XM_047438363.1:c.887C>A, XM_047438364.1:c.887C>A, NP_775802.2:p.Thr359Asn, NP_001338598.1:p.Thr358Asn, NP_001338599.1:p.Thr326Asn, NP_001338600.1:p.Thr258Asn, NP_001338601.1:p.Thr144Asn, XP_047294319.1:p.Thr296Asn, XP_047294320.1:p.Thr296Asn

Select item 14890194763.

rs1489019476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:21726936 (GRCh38)
19:21909738 (GRCh37)
Canonical SPDI:: NC_000019.10:21726935:C:A,NC_000019.10:21726935:C:T
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21726936C>A, NC_000019.10:g.21726936C>T, NC_000019.9:g.21909738C>A, NC_000019.9:g.21909738C>T, NG_054926.1:g.45693G>T, NG_054926.1:g.45693G>A, NM_173531.4:c.1376G>T, NM_173531.4:c.1376G>A, NM_173531.3:c.1376G>T, NM_173531.3:c.1376G>A, NM_001351669.2:c.1373G>T, NM_001351669.2:c.1373G>A, NM_001351669.1:c.1373G>T, NM_001351669.1:c.1373G>A, NM_001351670.2:c.1277G>T, NM_001351670.2:c.1277G>A, NM_001351670.1:c.1277G>T, NM_001351670.1:c.1277G>A, NM_001351671.2:c.1073G>T, NM_001351671.2:c.1073G>A, NM_001351671.1:c.1073G>T, NM_001351671.1:c.1073G>A, NM_001351672.2:c.731G>T, NM_001351672.2:c.731G>A, NM_001351672.1:c.731G>T, NM_001351672.1:c.731G>A, NW_003315964.2:g.88126C>A, NW_003315964.2:g.88126C>T, XM_047438363.1:c.1187G>T, XM_047438363.1:c.1187G>A, XM_047438364.1:c.1187G>T, XM_047438364.1:c.1187G>A, NP_775802.2:p.Cys459Phe, NP_775802.2:p.Cys459Tyr, NP_001338598.1:p.Cys458Phe, NP_001338598.1:p.Cys458Tyr, NP_001338599.1:p.Cys426Phe, NP_001338599.1:p.Cys426Tyr, NP_001338600.1:p.Cys358Phe, NP_001338600.1:p.Cys358Tyr, NP_001338601.1:p.Cys244Phe, NP_001338601.1:p.Cys244Tyr, XP_047294319.1:p.Cys396Phe, XP_047294319.1:p.Cys396Tyr, XP_047294320.1:p.Cys396Phe, XP_047294320.1:p.Cys396Tyr

Select item 14890020104.

rs1489002010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21727576 (GRCh38)
19:21910378 (GRCh37)
Canonical SPDI:: NC_000019.10:21727575:A:G
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21727576A>G, NC_000019.9:g.21910378A>G, NG_054926.1:g.45053T>C, NM_173531.4:c.736T>C, NM_173531.3:c.736T>C, NM_001351669.2:c.733T>C, NM_001351669.1:c.733T>C, NM_001351670.2:c.637T>C, NM_001351670.1:c.637T>C, NM_001351671.2:c.433T>C, NM_001351671.1:c.433T>C, NM_001351672.2:c.91T>C, NM_001351672.1:c.91T>C, NW_003315964.2:g.88766A>G, XM_047438364.1:c.547T>C, XM_047438363.1:c.547T>C, NP_775802.2:p.Ser246Pro, NP_001338598.1:p.Ser245Pro, NP_001338599.1:p.Ser213Pro, NP_001338600.1:p.Ser145Pro, NP_001338601.1:p.Ser31Pro, XP_047294320.1:p.Ser183Pro, XP_047294319.1:p.Ser183Pro

Select item 14869282355.

rs1486928235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:21727523 (GRCh38)
19:21910325 (GRCh37)
Canonical SPDI:: NC_000019.10:21727522:A:C
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21727523A>C, NC_000019.9:g.21910325A>C, NG_054926.1:g.45106T>G, NM_173531.4:c.789T>G, NM_173531.3:c.789T>G, NM_001351669.2:c.786T>G, NM_001351669.1:c.786T>G, NM_001351670.2:c.690T>G, NM_001351670.1:c.690T>G, NM_001351671.2:c.486T>G, NM_001351671.1:c.486T>G, NM_001351672.2:c.144T>G, NM_001351672.1:c.144T>G, NW_003315964.2:g.88713A>C, XM_047438363.1:c.600T>G, XM_047438364.1:c.600T>G, NP_775802.2:p.Cys263Trp, NP_001338598.1:p.Cys262Trp, NP_001338599.1:p.Cys230Trp, NP_001338600.1:p.Cys162Trp, NP_001338601.1:p.Cys48Trp, XP_047294319.1:p.Cys200Trp, XP_047294320.1:p.Cys200Trp

Select item 14852870996.

rs1485287099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21726738 (GRCh38)
19:21909540 (GRCh37)
Canonical SPDI:: NC_000019.10:21726737:G:A
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21726738G>A, NC_000019.9:g.21909540G>A, NG_054926.1:g.45891C>T, NM_173531.4:c.1574C>T, NM_173531.3:c.1574C>T, NM_001351669.2:c.1571C>T, NM_001351669.1:c.1571C>T, NM_001351670.2:c.1475C>T, NM_001351670.1:c.1475C>T, NM_001351671.2:c.1271C>T, NM_001351671.1:c.1271C>T, NM_001351672.2:c.929C>T, NM_001351672.1:c.929C>T, NW_003315964.2:g.87928G>A, XM_047438364.1:c.1385C>T, XM_047438363.1:c.1385C>T, NP_775802.2:p.Ser525Phe, NP_001338598.1:p.Ser524Phe, NP_001338599.1:p.Ser492Phe, NP_001338600.1:p.Ser424Phe, NP_001338601.1:p.Ser310Phe, XP_047294320.1:p.Ser462Phe, XP_047294319.1:p.Ser462Phe

Select item 14832172497.

rs1483217249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21727158 (GRCh38)
19:21909960 (GRCh37)
Canonical SPDI:: NC_000019.10:21727157:A:G
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.21727158A>G, NC_000019.9:g.21909960A>G, NG_054926.1:g.45471T>C, NM_173531.4:c.1154T>C, NM_173531.3:c.1154T>C, NM_001351669.2:c.1151T>C, NM_001351669.1:c.1151T>C, NM_001351670.2:c.1055T>C, NM_001351670.1:c.1055T>C, NM_001351671.2:c.851T>C, NM_001351671.1:c.851T>C, NM_001351672.2:c.509T>C, NM_001351672.1:c.509T>C, NW_003315964.2:g.88348A>G, XM_047438363.1:c.965T>C, XM_047438364.1:c.965T>C, NP_775802.2:p.Phe385Ser, NP_001338598.1:p.Phe384Ser, NP_001338599.1:p.Phe352Ser, NP_001338600.1:p.Phe284Ser, NP_001338601.1:p.Phe170Ser, XP_047294319.1:p.Phe322Ser, XP_047294320.1:p.Phe322Ser

Select item 14826684128.

rs1482668412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21727151 (GRCh38)
19:21909953 (GRCh37)
Canonical SPDI:: NC_000019.10:21727150:G:A
Gene:: ZNF100 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21727151G>A, NC_000019.9:g.21909953G>A, NG_054926.1:g.45478C>T, NM_173531.4:c.1161C>T, NM_173531.3:c.1161C>T, NM_001351669.2:c.1158C>T, NM_001351669.1:c.1158C>T, NM_001351670.2:c.1062C>T, NM_001351670.1:c.1062C>T, NM_001351671.2:c.858C>T, NM_001351671.1:c.858C>T, NM_001351672.2:c.516C>T, NM_001351672.1:c.516C>T, NW_003315964.2:g.88341G>A, XM_047438363.1:c.972C>T, XM_047438364.1:c.972C>T

Select item 14822012169.

rs1482201216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21727532 (GRCh38)
19:21910334 (GRCh37)
Canonical SPDI:: NC_000019.10:21727531:G:A
Gene:: ZNF100 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.21727532G>A, NC_000019.9:g.21910334G>A, NG_054926.1:g.45097C>T, NM_173531.4:c.780C>T, NM_173531.3:c.780C>T, NM_001351669.2:c.777C>T, NM_001351669.1:c.777C>T, NM_001351670.2:c.681C>T, NM_001351670.1:c.681C>T, NM_001351671.2:c.477C>T, NM_001351671.1:c.477C>T, NM_001351672.2:c.135C>T, NM_001351672.1:c.135C>T, NW_003315964.2:g.88722G>A, XM_047438363.1:c.591C>T, XM_047438364.1:c.591C>T

Select item 147911574710.

rs1479115747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21726945 (GRCh38)
19:21909747 (GRCh37)
Canonical SPDI:: NC_000019.10:21726944:G:A
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21726945G>A, NC_000019.9:g.21909747G>A, NG_054926.1:g.45684C>T, NM_173531.4:c.1367C>T, NM_173531.3:c.1367C>T, NM_001351669.2:c.1364C>T, NM_001351669.1:c.1364C>T, NM_001351670.2:c.1268C>T, NM_001351670.1:c.1268C>T, NM_001351671.2:c.1064C>T, NM_001351671.1:c.1064C>T, NM_001351672.2:c.722C>T, NM_001351672.1:c.722C>T, NW_003315964.2:g.88135G>A, XM_047438363.1:c.1178C>T, XM_047438364.1:c.1178C>T, NP_775802.2:p.Pro456Leu, NP_001338598.1:p.Pro455Leu, NP_001338599.1:p.Pro423Leu, NP_001338600.1:p.Pro355Leu, NP_001338601.1:p.Pro241Leu, XP_047294319.1:p.Pro393Leu, XP_047294320.1:p.Pro393Leu

Select item 147651034711.

rs1476510347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21727615 (GRCh38)
19:21910417 (GRCh37)
Canonical SPDI:: NC_000019.10:21727614:A:G
Gene:: ZNF100 (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.21727615A>G, NC_000019.9:g.21910417A>G, NG_054926.1:g.45014T>C, NM_173531.4:c.697T>C, NM_173531.3:c.697T>C, NM_001351669.2:c.694T>C, NM_001351669.1:c.694T>C, NM_001351670.2:c.598T>C, NM_001351670.1:c.598T>C, NM_001351671.2:c.394T>C, NM_001351671.1:c.394T>C, NM_001351672.2:c.52T>C, NM_001351672.1:c.52T>C, NW_003315964.2:g.88805A>G, XM_047438364.1:c.508T>C, XM_047438363.1:c.508T>C, NP_775802.2:p.Tyr233His, NP_001338598.1:p.Tyr232His, NP_001338599.1:p.Tyr200His, NP_001338600.1:p.Tyr132His, NP_001338601.1:p.Tyr18His, XP_047294320.1:p.Tyr170His, XP_047294319.1:p.Tyr170His

Select item 147162109412.

rs1471621094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21727630 (GRCh38)
19:21910432 (GRCh37)
Canonical SPDI:: NC_000019.10:21727629:T:C
Gene:: ZNF100 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21727630T>C, NC_000019.9:g.21910432T>C, NG_054926.1:g.44999A>G, NM_173531.4:c.682A>G, NM_173531.3:c.682A>G, NM_001351669.2:c.679A>G, NM_001351669.1:c.679A>G, NM_001351670.2:c.583A>G, NM_001351670.1:c.583A>G, NM_001351671.2:c.379A>G, NM_001351671.1:c.379A>G, NM_001351672.2:c.37A>G, NM_001351672.1:c.37A>G, NW_003315964.2:g.88820T>C, XM_047438363.1:c.493A>G, XM_047438364.1:c.493A>G, NP_775802.2:p.Ile228Val, NP_001338598.1:p.Ile227Val, NP_001338599.1:p.Ile195Val, NP_001338600.1:p.Ile127Val, NP_001338601.1:p.Ile13Val, XP_047294319.1:p.Ile165Val, XP_047294320.1:p.Ile165Val

Select item 146884037313.

rs1468840373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21726758 (GRCh38)
19:21909560 (GRCh37)
Canonical SPDI:: NC_000019.10:21726757:A:G
Gene:: ZNF100 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21726758A>G, NC_000019.9:g.21909560A>G, NG_054926.1:g.45871T>C, NM_173531.4:c.1554T>C, NM_173531.3:c.1554T>C, NM_001351669.2:c.1551T>C, NM_001351669.1:c.1551T>C, NM_001351670.2:c.1455T>C, NM_001351670.1:c.1455T>C, NM_001351671.2:c.1251T>C, NM_001351671.1:c.1251T>C, NM_001351672.2:c.909T>C, NM_001351672.1:c.909T>C, NW_003315964.2:g.87948A>G, XM_047438363.1:c.1365T>C, XM_047438364.1:c.1365T>C

Select item 146708263214.

rs1467082632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21727406 (GRCh38)
19:21910208 (GRCh37)
Canonical SPDI:: NC_000019.10:21727405:T:C
Gene:: ZNF100 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21727406T>C, NC_000019.9:g.21910208T>C, NG_054926.1:g.45223A>G, NM_173531.4:c.906A>G, NM_173531.3:c.906A>G, NM_001351669.2:c.903A>G, NM_001351669.1:c.903A>G, NM_001351670.2:c.807A>G, NM_001351670.1:c.807A>G, NM_001351671.2:c.603A>G, NM_001351671.1:c.603A>G, NM_001351672.2:c.261A>G, NM_001351672.1:c.261A>G, NW_003315964.2:g.88596T>C, XM_047438364.1:c.717A>G, XM_047438363.1:c.717A>G

Select item 146680407715.

rs1466804077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21727453 (GRCh38)
19:21910255 (GRCh37)
Canonical SPDI:: NC_000019.10:21727452:T:C
Gene:: ZNF100 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21727453T>C, NC_000019.9:g.21910255T>C, NG_054926.1:g.45176A>G, NM_173531.4:c.859A>G, NM_173531.3:c.859A>G, NM_001351669.2:c.856A>G, NM_001351669.1:c.856A>G, NM_001351670.2:c.760A>G, NM_001351670.1:c.760A>G, NM_001351671.2:c.556A>G, NM_001351671.1:c.556A>G, NM_001351672.2:c.214A>G, NM_001351672.1:c.214A>G, NW_003315964.2:g.88643T>C, XM_047438363.1:c.670A>G, XM_047438364.1:c.670A>G, NP_775802.2:p.Lys287Glu, NP_001338598.1:p.Lys286Glu, NP_001338599.1:p.Lys254Glu, NP_001338600.1:p.Lys186Glu, NP_001338601.1:p.Lys72Glu, XP_047294319.1:p.Lys224Glu, XP_047294320.1:p.Lys224Glu

Select item 146605183516.

rs1466051835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:21727008 (GRCh38)
19:21909810 (GRCh37)
Canonical SPDI:: NC_000019.10:21727007:C:A
Gene:: ZNF100 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21727008C>A, NC_000019.9:g.21909810C>A, NG_054926.1:g.45621G>T, NM_173531.4:c.1304G>T, NM_173531.3:c.1304G>T, NM_001351669.2:c.1301G>T, NM_001351669.1:c.1301G>T, NM_001351670.2:c.1205G>T, NM_001351670.1:c.1205G>T, NM_001351671.2:c.1001G>T, NM_001351671.1:c.1001G>T, NM_001351672.2:c.659G>T, NM_001351672.1:c.659G>T, NW_003315964.2:g.88198C>A, XM_047438363.1:c.1115G>T, XM_047438364.1:c.1115G>T, NP_775802.2:p.Gly435Val, NP_001338598.1:p.Gly434Val, NP_001338599.1:p.Gly402Val, NP_001338600.1:p.Gly334Val, NP_001338601.1:p.Gly220Val, XP_047294319.1:p.Gly372Val, XP_047294320.1:p.Gly372Val

Select item 146601171017.

rs1466011710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:21727360 (GRCh38)
19:21910162 (GRCh37)
Canonical SPDI:: NC_000019.10:21727359:T:G
Gene:: ZNF100 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21727360T>G, NC_000019.9:g.21910162T>G, NG_054926.1:g.45269A>C, NM_173531.4:c.952A>C, NM_173531.3:c.952A>C, NM_001351669.2:c.949A>C, NM_001351669.1:c.949A>C, NM_001351670.2:c.853A>C, NM_001351670.1:c.853A>C, NM_001351671.2:c.649A>C, NM_001351671.1:c.649A>C, NM_001351672.2:c.307A>C, NM_001351672.1:c.307A>C, NW_003315964.2:g.88550T>G, XM_047438364.1:c.763A>C, XM_047438363.1:c.763A>C, NP_775802.2:p.Lys318Gln, NP_001338598.1:p.Lys317Gln, NP_001338599.1:p.Lys285Gln, NP_001338600.1:p.Lys217Gln, NP_001338601.1:p.Lys103Gln, XP_047294320.1:p.Lys255Gln, XP_047294319.1:p.Lys255Gln

Select item 146524286818.

rs1465242868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:21727085 (GRCh38)
19:21909887 (GRCh37)
Canonical SPDI:: NC_000019.10:21727084:G:A,NC_000019.10:21727084:G:T
Gene:: ZNF100 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.21727085G>A, NC_000019.10:g.21727085G>T, NC_000019.9:g.21909887G>A, NC_000019.9:g.21909887G>T, NG_054926.1:g.45544C>T, NG_054926.1:g.45544C>A, NM_173531.4:c.1227C>T, NM_173531.4:c.1227C>A, NM_173531.3:c.1227C>T, NM_173531.3:c.1227C>A, NM_001351669.2:c.1224C>T, NM_001351669.2:c.1224C>A, NM_001351669.1:c.1224C>T, NM_001351669.1:c.1224C>A, NM_001351670.2:c.1128C>T, NM_001351670.2:c.1128C>A, NM_001351670.1:c.1128C>T, NM_001351670.1:c.1128C>A, NM_001351671.2:c.924C>T, NM_001351671.2:c.924C>A, NM_001351671.1:c.924C>T, NM_001351671.1:c.924C>A, NM_001351672.2:c.582C>T, NM_001351672.2:c.582C>A, NM_001351672.1:c.582C>T, NM_001351672.1:c.582C>A, NW_003315964.2:g.88275G>A, NW_003315964.2:g.88275G>T, XM_047438364.1:c.1038C>T, XM_047438364.1:c.1038C>A, XM_047438363.1:c.1038C>T, XM_047438363.1:c.1038C>A

Select item 145958074019.

rs1459580740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21726909 (GRCh38)
19:21909711 (GRCh37)
Canonical SPDI:: NC_000019.10:21726908:C:T
Gene:: ZNF100 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.21726909C>T, NC_000019.9:g.21909711C>T, NG_054926.1:g.45720G>A, NM_173531.4:c.1403G>A, NM_173531.3:c.1403G>A, NM_001351669.2:c.1400G>A, NM_001351669.1:c.1400G>A, NM_001351670.2:c.1304G>A, NM_001351670.1:c.1304G>A, NM_001351671.2:c.1100G>A, NM_001351671.1:c.1100G>A, NM_001351672.2:c.758G>A, NM_001351672.1:c.758G>A, NW_003315964.2:g.88099C>T, XM_047438363.1:c.1214G>A, XM_047438364.1:c.1214G>A, NP_775802.2:p.Arg468Gln, NP_001338598.1:p.Arg467Gln, NP_001338599.1:p.Arg435Gln, NP_001338600.1:p.Arg367Gln, NP_001338601.1:p.Arg253Gln, XP_047294319.1:p.Arg405Gln, XP_047294320.1:p.Arg405Gln

Select item 145797198520.

rs1457971985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21727122 (GRCh38)
19:21909924 (GRCh37)
Canonical SPDI:: NC_000019.10:21727121:C:G
Gene:: ZNF100 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21727122C>G, NC_000019.9:g.21909924C>G, NG_054926.1:g.45507G>C, NM_173531.4:c.1190G>C, NM_173531.3:c.1190G>C, NM_001351669.2:c.1187G>C, NM_001351669.1:c.1187G>C, NM_001351670.2:c.1091G>C, NM_001351670.1:c.1091G>C, NM_001351671.2:c.887G>C, NM_001351671.1:c.887G>C, NM_001351672.2:c.545G>C, NM_001351672.1:c.545G>C, NW_003315964.2:g.88312C>G, XM_047438363.1:c.1001G>C, XM_047438364.1:c.1001G>C, NP_775802.2:p.Gly397Ala, NP_001338598.1:p.Gly396Ala, NP_001338599.1:p.Gly364Ala, NP_001338600.1:p.Gly296Ala, NP_001338601.1:p.Gly182Ala, XP_047294319.1:p.Gly334Ala, XP_047294320.1:p.Gly334Ala

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