SNP Links for Protein (Select 662033843) - SNP

Links from Protein

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Select item 14865217221.

rs1486521722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21293300 (GRCh38)
19:21476102 (GRCh37)
Canonical SPDI:: NC_000019.10:21293299:T:C
Gene:: ZNF708 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21293300T>C, NC_000019.9:g.21476102T>C, NM_021269.3:c.1666A>G, NM_021269.2:c.1666A>G, XM_017027203.3:c.1438A>G, XM_017027203.2:c.1438A>G, XM_017027203.1:c.1438A>G, NM_001297560.2:c.1474A>G, NM_001297560.1:c.1474A>G, NM_001297561.2:c.1474A>G, NM_001297561.1:c.1474A>G, XM_047439310.1:c.1648A>G, NP_067092.2:p.Lys556Glu, XP_016882692.1:p.Lys480Glu, NP_001284489.1:p.Lys492Glu, NP_001284490.1:p.Lys492Glu, XP_047295266.1:p.Lys550Glu

Select item 14838181892.

rs1483818189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21294623 (GRCh38)
19:21477425 (GRCh37)
Canonical SPDI:: NC_000019.10:21294622:C:T
Gene:: ZNF708 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21294623C>T, NC_000019.9:g.21477425C>T, NM_021269.3:c.343G>A, NM_021269.2:c.343G>A, XM_017027203.3:c.115G>A, XM_017027203.2:c.115G>A, XM_017027203.1:c.115G>A, NM_001297560.2:c.151G>A, NM_001297560.1:c.151G>A, NM_001297561.2:c.151G>A, NM_001297561.1:c.151G>A, XM_047439310.1:c.325G>A, NP_067092.2:p.Val115Met, XP_016882692.1:p.Val39Met, NP_001284489.1:p.Val51Met, NP_001284490.1:p.Val51Met, XP_047295266.1:p.Val109Met

Select item 14833218503.

rs1483321850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:21294181 (GRCh38)
19:21476983 (GRCh37)
Canonical SPDI:: NC_000019.10:21294180:T:A
Gene:: ZNF708 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21294181T>A, NC_000019.9:g.21476983T>A, NM_021269.3:c.785A>T, NM_021269.2:c.785A>T, XM_017027203.3:c.557A>T, XM_017027203.2:c.557A>T, XM_017027203.1:c.557A>T, NM_001297560.2:c.593A>T, NM_001297560.1:c.593A>T, NM_001297561.2:c.593A>T, NM_001297561.1:c.593A>T, XM_047439310.1:c.767A>T, NP_067092.2:p.Asn262Ile, XP_016882692.1:p.Asn186Ile, NP_001284489.1:p.Asn198Ile, NP_001284490.1:p.Asn198Ile, XP_047295266.1:p.Asn256Ile

Select item 14804947134.

rs1480494713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21293878 (GRCh38)
19:21476680 (GRCh37)
Canonical SPDI:: NC_000019.10:21293877:G:A
Gene:: ZNF708 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00033/5 (ALFA)
A=0.00032/9 (TOMMO)
A=0.00308/9 (KOREAN)
HGVS:: NC_000019.10:g.21293878G>A, NC_000019.9:g.21476680G>A, NM_021269.3:c.1088C>T, NM_021269.2:c.1088C>T, XM_017027203.3:c.860C>T, XM_017027203.2:c.860C>T, XM_017027203.1:c.860C>T, NM_001297560.2:c.896C>T, NM_001297560.1:c.896C>T, NM_001297561.2:c.896C>T, NM_001297561.1:c.896C>T, XM_047439310.1:c.1070C>T, NP_067092.2:p.Pro363Leu, XP_016882692.1:p.Pro287Leu, NP_001284489.1:p.Pro299Leu, NP_001284490.1:p.Pro299Leu, XP_047295266.1:p.Pro357Leu

Select item 14747836415.

rs1474783641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21293782 (GRCh38)
19:21476584 (GRCh37)
Canonical SPDI:: NC_000019.10:21293781:T:C
Gene:: ZNF708 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.21293782T>C, NC_000019.9:g.21476584T>C, NM_021269.3:c.1184A>G, NM_021269.2:c.1184A>G, XM_017027203.3:c.956A>G, XM_017027203.2:c.956A>G, XM_017027203.1:c.956A>G, NM_001297560.2:c.992A>G, NM_001297560.1:c.992A>G, NM_001297561.2:c.992A>G, NM_001297561.1:c.992A>G, XM_047439310.1:c.1166A>G, NP_067092.2:p.Glu395Gly, XP_016882692.1:p.Glu319Gly, NP_001284489.1:p.Glu331Gly, NP_001284490.1:p.Glu331Gly, XP_047295266.1:p.Glu389Gly

Select item 14718794566.

rs1471879456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:21294236 (GRCh38)
19:21477038 (GRCh37)
Canonical SPDI:: NC_000019.10:21294235:T:A,NC_000019.10:21294235:T:C
Gene:: ZNF708 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21294236T>A, NC_000019.10:g.21294236T>C, NC_000019.9:g.21477038T>A, NC_000019.9:g.21477038T>C, NM_021269.3:c.730A>T, NM_021269.3:c.730A>G, NM_021269.2:c.730A>T, NM_021269.2:c.730A>G, XM_017027203.3:c.502A>T, XM_017027203.3:c.502A>G, XM_017027203.2:c.502A>T, XM_017027203.2:c.502A>G, XM_017027203.1:c.502A>T, XM_017027203.1:c.502A>G, NM_001297560.2:c.538A>T, NM_001297560.2:c.538A>G, NM_001297560.1:c.538A>T, NM_001297560.1:c.538A>G, NM_001297561.2:c.538A>T, NM_001297561.2:c.538A>G, NM_001297561.1:c.538A>T, NM_001297561.1:c.538A>G, XM_047439310.1:c.712A>T, XM_047439310.1:c.712A>G, NP_067092.2:p.Ile244Leu, NP_067092.2:p.Ile244Val, XP_016882692.1:p.Ile168Leu, XP_016882692.1:p.Ile168Val, NP_001284489.1:p.Ile180Leu, NP_001284489.1:p.Ile180Val, NP_001284490.1:p.Ile180Leu, NP_001284490.1:p.Ile180Val, XP_047295266.1:p.Ile238Leu, XP_047295266.1:p.Ile238Val

Select item 14684375557.

rs1468437555 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTAT>- [Show Flanks]
Chromosome:: 19:21293481 (GRCh38)
19:21476283 (GRCh37)
Canonical SPDI:: NC_000019.10:21293476:TTATCTTAT:TTAT
Gene:: ZNF708 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTAT=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.21293481_21293485del, NC_000019.9:g.21476283_21476287del, NM_021269.3:c.1485_1489del, NM_021269.2:c.1485_1489del, XM_017027203.3:c.1257_1261del, XM_017027203.2:c.1257_1261del, XM_017027203.1:c.1257_1261del, NM_001297560.2:c.1293_1297del, NM_001297560.1:c.1293_1297del, NM_001297561.2:c.1293_1297del, NM_001297561.1:c.1293_1297del, XM_047439310.1:c.1467_1471del, NP_067092.2:p.Lys495fs, XP_016882692.1:p.Lys419fs, NP_001284489.1:p.Lys431fs, NP_001284490.1:p.Lys431fs, XP_047295266.1:p.Lys489fs

Select item 14656184408.

rs1465618440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:21294327 (GRCh38)
19:21477129 (GRCh37)
Canonical SPDI:: NC_000019.10:21294326:A:T
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21294327A>T, NC_000019.9:g.21477129A>T, NM_021269.3:c.639T>A, NM_021269.2:c.639T>A, XM_017027203.3:c.411T>A, XM_017027203.2:c.411T>A, XM_017027203.1:c.411T>A, NM_001297560.2:c.447T>A, NM_001297560.1:c.447T>A, NM_001297561.2:c.447T>A, NM_001297561.1:c.447T>A, XM_047439310.1:c.621T>A, NP_067092.2:p.Asn213Lys, XP_016882692.1:p.Asn137Lys, NP_001284489.1:p.Asn149Lys, NP_001284490.1:p.Asn149Lys, XP_047295266.1:p.Asn207Lys

Select item 14654862879.

rs1465486287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21294503 (GRCh38)
19:21477305 (GRCh37)
Canonical SPDI:: NC_000019.10:21294502:C:T
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.21294503C>T, NC_000019.9:g.21477305C>T, NM_021269.3:c.463G>A, NM_021269.2:c.463G>A, XM_017027203.3:c.235G>A, XM_017027203.2:c.235G>A, XM_017027203.1:c.235G>A, NM_001297560.2:c.271G>A, NM_001297560.1:c.271G>A, NM_001297561.2:c.271G>A, NM_001297561.1:c.271G>A, XM_047439310.1:c.445G>A, NP_067092.2:p.Ala155Thr, XP_016882692.1:p.Ala79Thr, NP_001284489.1:p.Ala91Thr, NP_001284490.1:p.Ala91Thr, XP_047295266.1:p.Ala149Thr

Select item 146394365710.

rs1463943657 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:21294678 (GRCh38)
19:21477480 (GRCh37)
Canonical SPDI:: NC_000019.10:21294677:TT:
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.0011/2 (Korea1K)
HGVS:: NC_000019.10:g.21294678_21294679del, NC_000019.9:g.21477480_21477481del, NM_021269.3:c.287_288del, NM_021269.2:c.287_288del, XM_017027203.3:c.59_60del, XM_017027203.2:c.59_60del, XM_017027203.1:c.59_60del, NM_001297560.2:c.95_96del, NM_001297560.1:c.95_96del, NM_001297561.2:c.95_96del, NM_001297561.1:c.95_96del, XM_047439310.1:c.269_270del, NP_067092.2:p.Gln96fs, XP_016882692.1:p.Gln20fs, NP_001284489.1:p.Gln32fs, NP_001284490.1:p.Gln32fs, XP_047295266.1:p.Gln90fs

Select item 146332864611.

rs1463328646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:21294348 (GRCh38)
19:21477150 (GRCh37)
Canonical SPDI:: NC_000019.10:21294347:T:G
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.21294348T>G, NC_000019.9:g.21477150T>G, NM_021269.3:c.618A>C, NM_021269.2:c.618A>C, XM_017027203.3:c.390A>C, XM_017027203.2:c.390A>C, XM_017027203.1:c.390A>C, NM_001297560.2:c.426A>C, NM_001297560.1:c.426A>C, NM_001297561.2:c.426A>C, NM_001297561.1:c.426A>C, XM_047439310.1:c.600A>C, NP_067092.2:p.Lys206Asn, XP_016882692.1:p.Lys130Asn, NP_001284489.1:p.Lys142Asn, NP_001284490.1:p.Lys142Asn, XP_047295266.1:p.Lys200Asn

Select item 145961393712.

rs1459613937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21293353 (GRCh38)
19:21476155 (GRCh37)
Canonical SPDI:: NC_000019.10:21293352:C:G
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21293353C>G, NC_000019.9:g.21476155C>G, NM_021269.3:c.1613G>C, NM_021269.2:c.1613G>C, XM_017027203.3:c.1385G>C, XM_017027203.2:c.1385G>C, XM_017027203.1:c.1385G>C, NM_001297560.2:c.1421G>C, NM_001297560.1:c.1421G>C, NM_001297561.2:c.1421G>C, NM_001297561.1:c.1421G>C, XM_047439310.1:c.1595G>C, NP_067092.2:p.Gly538Ala, XP_016882692.1:p.Gly462Ala, NP_001284489.1:p.Gly474Ala, NP_001284490.1:p.Gly474Ala, XP_047295266.1:p.Gly532Ala

Select item 145703362113.

rs1457033621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:21293431 (GRCh38)
19:21476233 (GRCh37)
Canonical SPDI:: NC_000019.10:21293430:G:T
Gene:: ZNF708 (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=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21293431G>T, NC_000019.9:g.21476233G>T, NM_021269.3:c.1535C>A, NM_021269.2:c.1535C>A, XM_017027203.3:c.1307C>A, XM_017027203.2:c.1307C>A, XM_017027203.1:c.1307C>A, NM_001297560.2:c.1343C>A, NM_001297560.1:c.1343C>A, NM_001297561.2:c.1343C>A, NM_001297561.1:c.1343C>A, XM_047439310.1:c.1517C>A, NP_067092.2:p.Ala512Asp, XP_016882692.1:p.Ala436Asp, NP_001284489.1:p.Ala448Asp, NP_001284490.1:p.Ala448Asp, XP_047295266.1:p.Ala506Asp

Select item 145222250714.

rs1452222507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21293715 (GRCh38)
19:21476517 (GRCh37)
Canonical SPDI:: NC_000019.10:21293714:C:G
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21293715C>G, NC_000019.9:g.21476517C>G, NM_021269.3:c.1251G>C, NM_021269.2:c.1251G>C, XM_017027203.3:c.1023G>C, XM_017027203.2:c.1023G>C, XM_017027203.1:c.1023G>C, NM_001297560.2:c.1059G>C, NM_001297560.1:c.1059G>C, NM_001297561.2:c.1059G>C, NM_001297561.1:c.1059G>C, XM_047439310.1:c.1233G>C, NP_067092.2:p.Lys417Asn, XP_016882692.1:p.Lys341Asn, NP_001284489.1:p.Lys353Asn, NP_001284490.1:p.Lys353Asn, XP_047295266.1:p.Lys411Asn

Select item 145153213515.

rs1451532135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:21293499 (GRCh38)
19:21476301 (GRCh37)
Canonical SPDI:: NC_000019.10:21293498:A:G,NC_000019.10:21293498:A:T
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
T=0.000212/6 (TOMMO)
HGVS:: NC_000019.10:g.21293499A>G, NC_000019.10:g.21293499A>T, NC_000019.9:g.21476301A>G, NC_000019.9:g.21476301A>T, NM_021269.3:c.1467T>C, NM_021269.3:c.1467T>A, NM_021269.2:c.1467T>C, NM_021269.2:c.1467T>A, XM_017027203.3:c.1239T>C, XM_017027203.3:c.1239T>A, XM_017027203.2:c.1239T>C, XM_017027203.2:c.1239T>A, XM_017027203.1:c.1239T>C, XM_017027203.1:c.1239T>A, NM_001297560.2:c.1275T>C, NM_001297560.2:c.1275T>A, NM_001297560.1:c.1275T>C, NM_001297560.1:c.1275T>A, NM_001297561.2:c.1275T>C, NM_001297561.2:c.1275T>A, NM_001297561.1:c.1275T>C, NM_001297561.1:c.1275T>A, XM_047439310.1:c.1449T>C, XM_047439310.1:c.1449T>A

Select item 145068805516.

rs1450688055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:21293330 (GRCh38)
19:21476132 (GRCh37)
Canonical SPDI:: NC_000019.10:21293329:T:G
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.21293330T>G, NC_000019.9:g.21476132T>G, NM_021269.3:c.1636A>C, NM_021269.2:c.1636A>C, XM_017027203.3:c.1408A>C, XM_017027203.2:c.1408A>C, XM_017027203.1:c.1408A>C, NM_001297560.2:c.1444A>C, NM_001297560.1:c.1444A>C, NM_001297561.2:c.1444A>C, NM_001297561.1:c.1444A>C, XM_047439310.1:c.1618A>C, NP_067092.2:p.Asn546His, XP_016882692.1:p.Asn470His, NP_001284489.1:p.Asn482His, NP_001284490.1:p.Asn482His, XP_047295266.1:p.Asn540His

Select item 144675763617.

rs1446757636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21293693 (GRCh38)
19:21476495 (GRCh37)
Canonical SPDI:: NC_000019.10:21293692:A:G
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21293693A>G, NC_000019.9:g.21476495A>G, NM_021269.3:c.1273T>C, NM_021269.2:c.1273T>C, XM_017027203.3:c.1045T>C, XM_017027203.2:c.1045T>C, XM_017027203.1:c.1045T>C, NM_001297560.2:c.1081T>C, NM_001297560.1:c.1081T>C, NM_001297561.2:c.1081T>C, NM_001297561.1:c.1081T>C, XM_047439310.1:c.1255T>C, NP_067092.2:p.Cys425Arg, XP_016882692.1:p.Cys349Arg, NP_001284489.1:p.Cys361Arg, NP_001284490.1:p.Cys361Arg, XP_047295266.1:p.Cys419Arg

Select item 144452061618.

rs1444520616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:21294517 (GRCh38)
19:21477319 (GRCh37)
Canonical SPDI:: NC_000019.10:21294516:T:C
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.21294517T>C, NC_000019.9:g.21477319T>C, NM_021269.3:c.449A>G, NM_021269.2:c.449A>G, XM_017027203.3:c.221A>G, XM_017027203.2:c.221A>G, XM_017027203.1:c.221A>G, NM_001297560.2:c.257A>G, NM_001297560.1:c.257A>G, NM_001297561.2:c.257A>G, NM_001297561.1:c.257A>G, XM_047439310.1:c.431A>G, NP_067092.2:p.His150Arg, XP_016882692.1:p.His74Arg, NP_001284489.1:p.His86Arg, NP_001284490.1:p.His86Arg, XP_047295266.1:p.His144Arg

Select item 144340317419.

rs1443403174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:21293479 (GRCh38)
19:21476281 (GRCh37)
Canonical SPDI:: NC_000019.10:21293478:A:C,NC_000019.10:21293478:A:G
Gene:: ZNF708 (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)
G=0.000007/1 (GnomAD)
C=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.21293479A>C, NC_000019.10:g.21293479A>G, NC_000019.9:g.21476281A>C, NC_000019.9:g.21476281A>G, NM_021269.3:c.1487T>G, NM_021269.3:c.1487T>C, NM_021269.2:c.1487T>G, NM_021269.2:c.1487T>C, XM_017027203.3:c.1259T>G, XM_017027203.3:c.1259T>C, XM_017027203.2:c.1259T>G, XM_017027203.2:c.1259T>C, XM_017027203.1:c.1259T>G, XM_017027203.1:c.1259T>C, NM_001297560.2:c.1295T>G, NM_001297560.2:c.1295T>C, NM_001297560.1:c.1295T>G, NM_001297560.1:c.1295T>C, NM_001297561.2:c.1295T>G, NM_001297561.2:c.1295T>C, NM_001297561.1:c.1295T>G, NM_001297561.1:c.1295T>C, XM_047439310.1:c.1469T>G, XM_047439310.1:c.1469T>C, NP_067092.2:p.Ile496Arg, NP_067092.2:p.Ile496Thr, XP_016882692.1:p.Ile420Arg, XP_016882692.1:p.Ile420Thr, NP_001284489.1:p.Ile432Arg, NP_001284489.1:p.Ile432Thr, NP_001284490.1:p.Ile432Arg, NP_001284490.1:p.Ile432Thr, XP_047295266.1:p.Ile490Arg, XP_047295266.1:p.Ile490Thr

Select item 143885120620.

rs1438851206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21293706 (GRCh38)
19:21476508 (GRCh37)
Canonical SPDI:: NC_000019.10:21293705:G:A
Gene:: ZNF708 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21293706G>A, NC_000019.9:g.21476508G>A, NM_021269.3:c.1260C>T, NM_021269.2:c.1260C>T, XM_017027203.3:c.1032C>T, XM_017027203.2:c.1032C>T, XM_017027203.1:c.1032C>T, NM_001297560.2:c.1068C>T, NM_001297560.1:c.1068C>T, NM_001297561.2:c.1068C>T, NM_001297561.1:c.1068C>T, XM_047439310.1:c.1242C>T

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