SNP Links for Protein (Select 298676524) - SNP

Links from Protein

Items: 1 to 20 of 364

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Select item 14870329941.

rs1487032994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46500343 (GRCh38)
X:46359778 (GRCh37)
Canonical SPDI:: NC_000023.11:46500342:T:C
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500343T>C, NC_000023.10:g.46359778T>C, NG_023376.2:g.50115A>G, NM_001039891.3:c.1246A>G, NM_001039891.2:c.1246A>G, NM_001190417.2:c.1231A>G, NM_001190417.1:c.1231A>G, NM_001146291.2:c.1228A>G, NM_001146291.1:c.1228A>G, XM_011543943.4:c.1243A>G, XM_011543943.3:c.1243A>G, XM_011543943.2:c.1243A>G, XM_011543943.1:c.1243A>G, NP_001034980.1:p.Ser416Gly, NP_001177346.1:p.Ser411Gly, NP_001139763.1:p.Ser410Gly, XP_011542245.1:p.Ser415Gly

Select item 14860189052.

rs1486018905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:46499943 (GRCh38)
X:46359378 (GRCh37)
Canonical SPDI:: NC_000023.11:46499942:C:G
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46499943C>G, NC_000023.10:g.46359378C>G, NG_023376.2:g.50515G>C, NM_001039891.3:c.1646G>C, NM_001039891.2:c.1646G>C, NM_001190417.2:c.1631G>C, NM_001190417.1:c.1631G>C, NM_001146291.2:c.1628G>C, NM_001146291.1:c.1628G>C, XM_011543943.4:c.1643G>C, XM_011543943.3:c.1643G>C, XM_011543943.2:c.1643G>C, XM_011543943.1:c.1643G>C, NP_001034980.1:p.Gly549Ala, NP_001177346.1:p.Gly544Ala, NP_001139763.1:p.Gly543Ala, XP_011542245.1:p.Gly548Ala

Select item 14834219743.

rs1483421974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:46500592 (GRCh38)
X:46360027 (GRCh37)
Canonical SPDI:: NC_000023.11:46500591:G:A
Gene:: ZNF674 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500592G>A, NC_000023.10:g.46360027G>A, NG_023376.2:g.49866C>T, NM_001039891.3:c.997C>T, NM_001039891.2:c.997C>T, NM_001190417.2:c.982C>T, NM_001190417.1:c.982C>T, NM_001146291.2:c.979C>T, NM_001146291.1:c.979C>T, XM_011543943.4:c.994C>T, XM_011543943.3:c.994C>T, XM_011543943.2:c.994C>T, XM_011543943.1:c.994C>T, NP_001034980.1:p.Gln333Ter, NP_001177346.1:p.Gln328Ter, NP_001139763.1:p.Gln327Ter, XP_011542245.1:p.Gln332Ter

Select item 14810727904.

rs1481072790 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:46500745 (GRCh38)
X:46360181 (GRCh37)
Canonical SPDI:: NC_000023.11:46500745:TT:TTT
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000023.11:g.46500747dup, NC_000023.10:g.46360182dup, NG_023376.2:g.49712dup, NM_001039891.3:c.843dup, NM_001039891.2:c.843dup, NM_001190417.2:c.828dup, NM_001190417.1:c.828dup, NM_001146291.2:c.825dup, NM_001146291.1:c.825dup, XM_011543943.4:c.840dup, XM_011543943.3:c.840dup, XM_011543943.2:c.840dup, XM_011543943.1:c.840dup, NP_001034980.1:p.Cys282fs, NP_001177346.1:p.Cys277fs, NP_001139763.1:p.Cys276fs, XP_011542245.1:p.Cys281fs

Select item 14765962775.

rs1476596277 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:46528868 (GRCh38)
X:46388304 (GRCh37)
Canonical SPDI:: NC_000023.11:46528868:A:AA
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46528869dup, NC_000023.10:g.46388304dup, NG_023376.2:g.21589dup, NM_001039891.3:c.56dup, NM_001039891.2:c.56dup, NM_001190417.2:c.56dup, NM_001190417.1:c.56dup, NM_001146291.2:c.56dup, NM_001146291.1:c.56dup, XM_011543943.4:c.56dup, XM_011543943.3:c.56dup, XM_011543943.2:c.56dup, XM_011543943.1:c.56dup, NP_001034980.1:p.Glu20fs, NP_001177346.1:p.Glu20fs, NP_001139763.1:p.Glu20fs, XP_011542245.1:p.Glu20fs

Select item 14718840116.

rs1471884011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:46501057 (GRCh38)
X:46360492 (GRCh37)
Canonical SPDI:: NC_000023.11:46501056:A:C
Gene:: ZNF674 (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=0.000675/9 (TOMMO)
HGVS:: NC_000023.11:g.46501057A>C, NC_000023.10:g.46360492A>C, NG_023376.2:g.49401T>G, NM_001039891.3:c.532T>G, NM_001039891.2:c.532T>G, NM_001190417.2:c.517T>G, NM_001190417.1:c.517T>G, NM_001146291.2:c.514T>G, NM_001146291.1:c.514T>G, XM_011543943.4:c.529T>G, XM_011543943.3:c.529T>G, XM_011543943.2:c.529T>G, XM_011543943.1:c.529T>G, NP_001034980.1:p.Trp178Gly, NP_001177346.1:p.Trp173Gly, NP_001139763.1:p.Trp172Gly, XP_011542245.1:p.Trp177Gly

Select item 14702275457.

rs1470227545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:46501184 (GRCh38)
X:46360619 (GRCh37)
Canonical SPDI:: NC_000023.11:46501183:G:T
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46501184G>T, NC_000023.10:g.46360619G>T, NG_023376.2:g.49274C>A, NM_001039891.3:c.405C>A, NM_001039891.2:c.405C>A, NM_001190417.2:c.390C>A, NM_001190417.1:c.390C>A, NM_001146291.2:c.387C>A, NM_001146291.1:c.387C>A, XM_011543943.4:c.402C>A, XM_011543943.3:c.402C>A, XM_011543943.2:c.402C>A, XM_011543943.1:c.402C>A, NP_001034980.1:p.Asp135Glu, NP_001177346.1:p.Asp130Glu, NP_001139763.1:p.Asp129Glu, XP_011542245.1:p.Asp134Glu

Select item 14675391968.

rs1467539196 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: X:46500750 (GRCh38)
X:46360186 (GRCh37)
Canonical SPDI:: NC_000023.11:46500750:A:AAA
Gene:: ZNF674 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.46500751_46500752insAA, NC_000023.10:g.46360186_46360187insAA, NG_023376.2:g.49707_49708insTT, NM_001039891.3:c.838_839insTT, NM_001039891.2:c.838_839insTT, NM_001190417.2:c.823_824insTT, NM_001190417.1:c.823_824insTT, NM_001146291.2:c.820_821insTT, NM_001146291.1:c.820_821insTT, XM_011543943.4:c.835_836insTT, XM_011543943.3:c.835_836insTT, XM_011543943.2:c.835_836insTT, XM_011543943.1:c.835_836insTT, NP_001034980.1:p.Tyr280fs, NP_001177346.1:p.Tyr275fs, NP_001139763.1:p.Tyr274fs, XP_011542245.1:p.Tyr279fs

Select item 14671637959.

rs1467163795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:46500050 (GRCh38)
X:46359485 (GRCh37)
Canonical SPDI:: NC_000023.11:46500049:G:C
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500050G>C, NC_000023.10:g.46359485G>C, NG_023376.2:g.50408C>G, NM_001039891.3:c.1539C>G, NM_001039891.2:c.1539C>G, NM_001190417.2:c.1524C>G, NM_001190417.1:c.1524C>G, NM_001146291.2:c.1521C>G, NM_001146291.1:c.1521C>G, XM_011543943.4:c.1536C>G, XM_011543943.3:c.1536C>G, XM_011543943.2:c.1536C>G, XM_011543943.1:c.1536C>G, NP_001034980.1:p.Ile513Met, NP_001177346.1:p.Ile508Met, NP_001139763.1:p.Ile507Met, XP_011542245.1:p.Ile512Met

Select item 146602554410.

rs1466025544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46500521 (GRCh38)
X:46359956 (GRCh37)
Canonical SPDI:: NC_000023.11:46500520:T:C
Gene:: ZNF674 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500521T>C, NC_000023.10:g.46359956T>C, NG_023376.2:g.49937A>G, NM_001039891.3:c.1068A>G, NM_001039891.2:c.1068A>G, NM_001190417.2:c.1053A>G, NM_001190417.1:c.1053A>G, NM_001146291.2:c.1050A>G, NM_001146291.1:c.1050A>G, XM_011543943.4:c.1065A>G, XM_011543943.3:c.1065A>G, XM_011543943.2:c.1065A>G, XM_011543943.1:c.1065A>G

Select item 146520354711.

rs1465203547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46500629 (GRCh38)
X:46360064 (GRCh37)
Canonical SPDI:: NC_000023.11:46500628:T:C
Gene:: ZNF674 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46500629T>C, NC_000023.10:g.46360064T>C, NG_023376.2:g.49829A>G, NM_001039891.3:c.960A>G, NM_001039891.2:c.960A>G, NM_001190417.2:c.945A>G, NM_001190417.1:c.945A>G, NM_001146291.2:c.942A>G, NM_001146291.1:c.942A>G, XM_011543943.4:c.957A>G, XM_011543943.3:c.957A>G, XM_011543943.2:c.957A>G, XM_011543943.1:c.957A>G

Select item 146386909412.

rs1463869094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:46500018 (GRCh38)
X:46359453 (GRCh37)
Canonical SPDI:: NC_000023.11:46500017:G:C
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.46500018G>C, NC_000023.10:g.46359453G>C, NG_023376.2:g.50440C>G, NM_001039891.3:c.1571C>G, NM_001039891.2:c.1571C>G, NM_001190417.2:c.1556C>G, NM_001190417.1:c.1556C>G, NM_001146291.2:c.1553C>G, NM_001146291.1:c.1553C>G, XM_011543943.4:c.1568C>G, XM_011543943.3:c.1568C>G, XM_011543943.2:c.1568C>G, XM_011543943.1:c.1568C>G, NP_001034980.1:p.Pro524Arg, NP_001177346.1:p.Pro519Arg, NP_001139763.1:p.Pro518Arg, XP_011542245.1:p.Pro523Arg

Select item 146344321413.

rs1463443214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46500373 (GRCh38)
X:46359808 (GRCh37)
Canonical SPDI:: NC_000023.11:46500372:T:C
Gene:: ZNF674 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46500373T>C, NC_000023.10:g.46359808T>C, NG_023376.2:g.50085A>G, NM_001039891.3:c.1216A>G, NM_001039891.2:c.1216A>G, NM_001190417.2:c.1201A>G, NM_001190417.1:c.1201A>G, NM_001146291.2:c.1198A>G, NM_001146291.1:c.1198A>G, XM_011543943.4:c.1213A>G, XM_011543943.3:c.1213A>G, XM_011543943.2:c.1213A>G, XM_011543943.1:c.1213A>G, NP_001034980.1:p.Ile406Val, NP_001177346.1:p.Ile401Val, NP_001139763.1:p.Ile400Val, XP_011542245.1:p.Ile405Val

Select item 146328811814.

rs1463288118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:46501004 (GRCh38)
X:46360439 (GRCh37)
Canonical SPDI:: NC_000023.11:46501003:A:C
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.46501004A>C, NC_000023.10:g.46360439A>C, NG_023376.2:g.49454T>G, NM_001039891.3:c.585T>G, NM_001039891.2:c.585T>G, NM_001190417.2:c.570T>G, NM_001190417.1:c.570T>G, NM_001146291.2:c.567T>G, NM_001146291.1:c.567T>G, XM_011543943.4:c.582T>G, XM_011543943.3:c.582T>G, XM_011543943.2:c.582T>G, XM_011543943.1:c.582T>G, NP_001034980.1:p.Phe195Leu, NP_001177346.1:p.Phe190Leu, NP_001139763.1:p.Phe189Leu, XP_011542245.1:p.Phe194Leu

Select item 145967800715.

rs1459678007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:46500366 (GRCh38)
X:46359801 (GRCh37)
Canonical SPDI:: NC_000023.11:46500365:G:A
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500366G>A, NC_000023.10:g.46359801G>A, NG_023376.2:g.50092C>T, NM_001039891.3:c.1223C>T, NM_001039891.2:c.1223C>T, NM_001190417.2:c.1208C>T, NM_001190417.1:c.1208C>T, NM_001146291.2:c.1205C>T, NM_001146291.1:c.1205C>T, XM_011543943.4:c.1220C>T, XM_011543943.3:c.1220C>T, XM_011543943.2:c.1220C>T, XM_011543943.1:c.1220C>T, NP_001034980.1:p.Thr408Ile, NP_001177346.1:p.Thr403Ile, NP_001139763.1:p.Thr402Ile, XP_011542245.1:p.Thr407Ile

Select item 145851088316.

rs1458510883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:46500160 (GRCh38)
X:46359595 (GRCh37)
Canonical SPDI:: NC_000023.11:46500159:C:T
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500160C>T, NC_000023.10:g.46359595C>T, NG_023376.2:g.50298G>A, NM_001039891.3:c.1429G>A, NM_001039891.2:c.1429G>A, NM_001190417.2:c.1414G>A, NM_001190417.1:c.1414G>A, NM_001146291.2:c.1411G>A, NM_001146291.1:c.1411G>A, XM_011543943.4:c.1426G>A, XM_011543943.3:c.1426G>A, XM_011543943.2:c.1426G>A, XM_011543943.1:c.1426G>A, NP_001034980.1:p.Ala477Thr, NP_001177346.1:p.Ala472Thr, NP_001139763.1:p.Ala471Thr, XP_011542245.1:p.Ala476Thr

Select item 145761955417.

rs1457619554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:46501282 (GRCh38)
X:46360717 (GRCh37)
Canonical SPDI:: NC_000023.11:46501281:A:G
Gene:: ZNF674 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46501282A>G, NC_000023.10:g.46360717A>G, NG_023376.2:g.49176T>C, NM_001039891.3:c.307T>C, NM_001039891.2:c.307T>C, NM_001190417.2:c.292T>C, NM_001190417.1:c.292T>C, NM_001146291.2:c.289T>C, NM_001146291.1:c.289T>C, XM_011543943.4:c.304T>C, XM_011543943.3:c.304T>C, XM_011543943.2:c.304T>C, XM_011543943.1:c.304T>C, NP_001034980.1:p.Phe103Leu, NP_001177346.1:p.Phe98Leu, NP_001139763.1:p.Phe97Leu, XP_011542245.1:p.Phe102Leu

Select item 145455945518.

rs1454559455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:46500227 (GRCh38)
X:46359662 (GRCh37)
Canonical SPDI:: NC_000023.11:46500226:T:C
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.46500227T>C, NC_000023.10:g.46359662T>C, NG_023376.2:g.50231A>G, NM_001039891.3:c.1362A>G, NM_001039891.2:c.1362A>G, NM_001190417.2:c.1347A>G, NM_001190417.1:c.1347A>G, NM_001146291.2:c.1344A>G, NM_001146291.1:c.1344A>G, XM_011543943.4:c.1359A>G, XM_011543943.3:c.1359A>G, XM_011543943.2:c.1359A>G, XM_011543943.1:c.1359A>G

Select item 145383973819.

rs1453839738 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: X:46500550 (GRCh38)
X:46359985 (GRCh37)
Canonical SPDI:: NC_000023.11:46500544:ATATATA:ATATA
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46500546TA[2], NC_000023.10:g.46359981TA[2], NG_023376.2:g.49908AT[2], NM_001039891.3:c.1043_1044del, NM_001039891.2:c.1043_1044del, NM_001190417.2:c.1028_1029del, NM_001190417.1:c.1028_1029del, NM_001146291.2:c.1025_1026del, NM_001146291.1:c.1025_1026del, XM_011543943.4:c.1040_1041del, XM_011543943.3:c.1040_1041del, XM_011543943.2:c.1040_1041del, XM_011543943.1:c.1040_1041del, NP_001034980.1:p.Tyr348fs, NP_001177346.1:p.Tyr343fs, NP_001139763.1:p.Tyr342fs, XP_011542245.1:p.Tyr347fs

Select item 144995657620.

rs1449956576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:46501072 (GRCh38)
X:46360507 (GRCh37)
Canonical SPDI:: NC_000023.11:46501071:C:T
Gene:: ZNF674 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.46501072C>T, NC_000023.10:g.46360507C>T, NG_023376.2:g.49386G>A, NM_001039891.3:c.517G>A, NM_001039891.2:c.517G>A, NM_001190417.2:c.502G>A, NM_001190417.1:c.502G>A, NM_001146291.2:c.499G>A, NM_001146291.1:c.499G>A, XM_011543943.4:c.514G>A, XM_011543943.3:c.514G>A, XM_011543943.2:c.514G>A, XM_011543943.1:c.514G>A, NP_001034980.1:p.Gly173Arg, NP_001177346.1:p.Gly168Arg, NP_001139763.1:p.Gly167Arg, XP_011542245.1:p.Gly172Arg

dbSNP

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