SNP Links for Protein (Select 332801015) - SNP

Links from Protein

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Select item 14903858661.

rs1490385866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:100532510 (GRCh38)
12:100926288 (GRCh37)
Canonical SPDI:: NC_000012.12:100532509:G:A
Gene:: NR1H4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.100532510G>A, NC_000012.11:g.100926288G>A, NG_029843.1:g.63738G>A, NM_005123.4:c.498G>A, NM_005123.3:c.498G>A, NM_001206977.2:c.498G>A, NM_001206977.1:c.498G>A, NM_001206979.2:c.498G>A, NM_001206979.1:c.498G>A, NR_135146.2:n.881G>A, NR_135146.1:n.974G>A, NM_001206993.2:c.528G>A, NM_001206993.1:c.528G>A, NM_001206992.2:c.528G>A, NM_001206992.1:c.528G>A, XM_011539040.3:c.498G>A, XM_011539040.2:c.498G>A, XM_011539040.1:c.498G>A, XM_006719719.3:c.528G>A, XM_006719719.2:c.528G>A, XM_006719719.1:c.528G>A, XM_047429943.1:c.498G>A, XM_047429944.1:c.498G>A

Select item 14814556422.

rs1481455642 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:100532532 (GRCh38)
12:100926310 (GRCh37)
Canonical SPDI:: NC_000012.12:100532531:T:
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.100532532del, NC_000012.11:g.100926310del, NG_029843.1:g.63760del, NM_005123.4:c.520del, NM_005123.3:c.520del, NM_001206977.2:c.520del, NM_001206977.1:c.520del, NM_001206979.2:c.520del, NM_001206979.1:c.520del, NR_135146.2:n.903del, NR_135146.1:n.996del, NM_001206993.2:c.550del, NM_001206993.1:c.550del, NM_001206992.2:c.550del, NM_001206992.1:c.550del, XM_011539040.3:c.520del, XM_011539040.2:c.520del, XM_011539040.1:c.520del, XM_006719719.3:c.550del, XM_006719719.2:c.550del, XM_006719719.1:c.550del, XM_047429943.1:c.520del, XM_047429944.1:c.520del, NP_005114.1:p.Tyr174fs, NP_001193906.1:p.Tyr174fs, NP_001193908.1:p.Tyr174fs, NP_001193922.1:p.Tyr184fs, NP_001193921.1:p.Tyr184fs, XP_011537342.1:p.Tyr174fs, XP_006719782.1:p.Tyr184fs, XP_047285899.1:p.Tyr174fs, XP_047285900.1:p.Tyr174fs

Select item 14796316973.

rs1479631697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:100563363 (GRCh38)
12:100957141 (GRCh37)
Canonical SPDI:: NC_000012.12:100563362:C:G
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (KOREAN)
G=0.00011/2 (TOMMO)
HGVS:: NC_000012.12:g.100563363C>G, NC_000012.11:g.100957141C>G, NG_029843.1:g.94591C>G, NM_005123.4:c.1293C>G, NM_005123.3:c.1293C>G, NM_001206977.2:c.1305C>G, NM_001206977.1:c.1305C>G, NM_001206979.2:c.1305C>G, NM_001206979.1:c.1305C>G, NR_135146.2:n.1681C>G, NR_135146.1:n.1774C>G, NM_001206978.2:c.1152C>G, NM_001206978.1:c.1152C>G, NM_001206993.2:c.1335C>G, NM_001206993.1:c.1335C>G, NM_001206992.2:c.1323C>G, NM_001206992.1:c.1323C>G, XM_011539040.3:c.1305C>G, XM_011539040.2:c.1305C>G, XM_011539040.1:c.1305C>G, XM_011539041.3:c.1182C>G, XM_011539041.2:c.1182C>G, XM_011539041.1:c.1182C>G, XM_047429943.1:c.1293C>G

Select item 14760253104.

rs1476025310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:100511073 (GRCh38)
12:100904851 (GRCh37)
Canonical SPDI:: NC_000012.12:100511072:G:T
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100511073G>T, NC_000012.11:g.100904851G>T, NG_029843.1:g.42301G>T, NM_005123.4:c.375G>T, NM_005123.3:c.375G>T, NM_001206977.2:c.375G>T, NM_001206977.1:c.375G>T, NM_001206979.2:c.375G>T, NM_001206979.1:c.375G>T, NR_135146.2:n.758G>T, NR_135146.1:n.851G>T, NM_001206978.2:c.375G>T, NM_001206978.1:c.375G>T, NM_001206993.2:c.405G>T, NM_001206993.1:c.405G>T, NM_001206992.2:c.405G>T, NM_001206992.1:c.405G>T, XM_011539040.3:c.375G>T, XM_011539040.2:c.375G>T, XM_011539040.1:c.375G>T, XM_011539041.3:c.405G>T, XM_011539041.2:c.405G>T, XM_011539041.1:c.405G>T, XM_006719719.3:c.405G>T, XM_006719719.2:c.405G>T, XM_006719719.1:c.405G>T, XM_047429943.1:c.375G>T, XM_047429944.1:c.375G>T, NP_005114.1:p.Glu125Asp, NP_001193906.1:p.Glu125Asp, NP_001193908.1:p.Glu125Asp, NP_001193907.1:p.Glu125Asp, NP_001193922.1:p.Glu135Asp, NP_001193921.1:p.Glu135Asp, XP_011537342.1:p.Glu125Asp, XP_011537343.1:p.Glu135Asp, XP_006719782.1:p.Glu135Asp, XP_047285899.1:p.Glu125Asp, XP_047285900.1:p.Glu125Asp

Select item 14744065795.

rs1474406579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:100536541 (GRCh38)
12:100930319 (GRCh37)
Canonical SPDI:: NC_000012.12:100536540:G:A,NC_000012.12:100536540:G:C
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100536541G>A, NC_000012.12:g.100536541G>C, NC_000012.11:g.100930319G>A, NC_000012.11:g.100930319G>C, NG_029843.1:g.67769G>A, NG_029843.1:g.67769G>C, NM_005123.4:c.750G>A, NM_005123.4:c.750G>C, NM_005123.3:c.750G>A, NM_005123.3:c.750G>C, NM_001206977.2:c.762G>A, NM_001206977.2:c.762G>C, NM_001206977.1:c.762G>A, NM_001206977.1:c.762G>C, NM_001206979.2:c.762G>A, NM_001206979.2:c.762G>C, NM_001206979.1:c.762G>A, NM_001206979.1:c.762G>C, NR_135146.2:n.1138G>A, NR_135146.2:n.1138G>C, NR_135146.1:n.1231G>A, NR_135146.1:n.1231G>C, NM_001206978.2:c.609G>A, NM_001206978.2:c.609G>C, NM_001206978.1:c.609G>A, NM_001206978.1:c.609G>C, NM_001206993.2:c.792G>A, NM_001206993.2:c.792G>C, NM_001206993.1:c.792G>A, NM_001206993.1:c.792G>C, NM_001206992.2:c.780G>A, NM_001206992.2:c.780G>C, NM_001206992.1:c.780G>A, NM_001206992.1:c.780G>C, XM_011539040.3:c.762G>A, XM_011539040.3:c.762G>C, XM_011539040.2:c.762G>A, XM_011539040.2:c.762G>C, XM_011539040.1:c.762G>A, XM_011539040.1:c.762G>C, XM_011539041.3:c.639G>A, XM_011539041.3:c.639G>C, XM_011539041.2:c.639G>A, XM_011539041.2:c.639G>C, XM_011539041.1:c.639G>A, XM_011539041.1:c.639G>C, XM_006719719.3:c.797G>A, XM_006719719.3:c.797G>C, XM_006719719.2:c.797G>A, XM_006719719.2:c.797G>C, XM_006719719.1:c.797G>A, XM_006719719.1:c.797G>C, XM_047429943.1:c.750G>A, XM_047429943.1:c.750G>C, XM_047429944.1:c.767G>A, XM_047429944.1:c.767G>C, NP_005114.1:p.Gln250His, NP_001193906.1:p.Gln254His, NP_001193908.1:p.Gln254His, NP_001193907.1:p.Gln203His, NP_001193922.1:p.Gln264His, NP_001193921.1:p.Gln260His, XP_011537342.1:p.Gln254His, XP_011537343.1:p.Gln213His, XP_006719782.1:p.Arg266Lys, XP_006719782.1:p.Arg266Thr, XP_047285899.1:p.Gln250His, XP_047285900.1:p.Arg256Lys, XP_047285900.1:p.Arg256Thr

Select item 14743034056.

rs1474303405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:100563310 (GRCh38)
12:100957088 (GRCh37)
Canonical SPDI:: NC_000012.12:100563309:G:A
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100563310G>A, NC_000012.11:g.100957088G>A, NG_029843.1:g.94538G>A, NM_005123.4:c.1240G>A, NM_005123.3:c.1240G>A, NM_001206977.2:c.1252G>A, NM_001206977.1:c.1252G>A, NM_001206979.2:c.1252G>A, NM_001206979.1:c.1252G>A, NR_135146.2:n.1628G>A, NR_135146.1:n.1721G>A, NM_001206978.2:c.1099G>A, NM_001206978.1:c.1099G>A, NM_001206993.2:c.1282G>A, NM_001206993.1:c.1282G>A, NM_001206992.2:c.1270G>A, NM_001206992.1:c.1270G>A, XM_011539040.3:c.1252G>A, XM_011539040.2:c.1252G>A, XM_011539040.1:c.1252G>A, XM_011539041.3:c.1129G>A, XM_011539041.2:c.1129G>A, XM_011539041.1:c.1129G>A, XM_047429943.1:c.1240G>A, NP_005114.1:p.Val414Met, NP_001193906.1:p.Val418Met, NP_001193908.1:p.Val418Met, NP_001193907.1:p.Val367Met, NP_001193922.1:p.Val428Met, NP_001193921.1:p.Val424Met, XP_011537342.1:p.Val418Met, XP_011537343.1:p.Val377Met, XP_047285899.1:p.Val414Met

Select item 14737555347.

rs1473755534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:100563300 (GRCh38)
12:100957078 (GRCh37)
Canonical SPDI:: NC_000012.12:100563299:A:C,NC_000012.12:100563299:A:T
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100563300A>C, NC_000012.12:g.100563300A>T, NC_000012.11:g.100957078A>C, NC_000012.11:g.100957078A>T, NG_029843.1:g.94528A>C, NG_029843.1:g.94528A>T, NM_005123.4:c.1230A>C, NM_005123.4:c.1230A>T, NM_005123.3:c.1230A>C, NM_005123.3:c.1230A>T, NM_001206977.2:c.1242A>C, NM_001206977.2:c.1242A>T, NM_001206977.1:c.1242A>C, NM_001206977.1:c.1242A>T, NM_001206979.2:c.1242A>C, NM_001206979.2:c.1242A>T, NM_001206979.1:c.1242A>C, NM_001206979.1:c.1242A>T, NR_135146.2:n.1618A>C, NR_135146.2:n.1618A>T, NR_135146.1:n.1711A>C, NR_135146.1:n.1711A>T, NM_001206978.2:c.1089A>C, NM_001206978.2:c.1089A>T, NM_001206978.1:c.1089A>C, NM_001206978.1:c.1089A>T, NM_001206993.2:c.1272A>C, NM_001206993.2:c.1272A>T, NM_001206993.1:c.1272A>C, NM_001206993.1:c.1272A>T, NM_001206992.2:c.1260A>C, NM_001206992.2:c.1260A>T, NM_001206992.1:c.1260A>C, NM_001206992.1:c.1260A>T, XM_011539040.3:c.1242A>C, XM_011539040.3:c.1242A>T, XM_011539040.2:c.1242A>C, XM_011539040.2:c.1242A>T, XM_011539040.1:c.1242A>C, XM_011539040.1:c.1242A>T, XM_011539041.3:c.1119A>C, XM_011539041.3:c.1119A>T, XM_011539041.2:c.1119A>C, XM_011539041.2:c.1119A>T, XM_011539041.1:c.1119A>C, XM_011539041.1:c.1119A>T, XM_047429943.1:c.1230A>C, XM_047429943.1:c.1230A>T

Select item 14735961658.

rs1473596165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:100563485 (GRCh38)
12:100957263 (GRCh37)
Canonical SPDI:: NC_000012.12:100563484:A:G
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100563485A>G, NC_000012.11:g.100957263A>G, NG_029843.1:g.94713A>G, NM_005123.4:c.1415A>G, NM_005123.3:c.1415A>G, NM_001206977.2:c.1427A>G, NM_001206977.1:c.1427A>G, NM_001206979.2:c.1427A>G, NM_001206979.1:c.1427A>G, NR_135146.2:n.1803A>G, NR_135146.1:n.1896A>G, NM_001206978.2:c.1274A>G, NM_001206978.1:c.1274A>G, NM_001206993.2:c.1457A>G, NM_001206993.1:c.1457A>G, NM_001206992.2:c.1445A>G, NM_001206992.1:c.1445A>G, XM_011539040.3:c.1427A>G, XM_011539040.2:c.1427A>G, XM_011539040.1:c.1427A>G, XM_011539041.3:c.1304A>G, XM_011539041.2:c.1304A>G, XM_011539041.1:c.1304A>G, XM_047429943.1:c.1415A>G, NP_005114.1:p.Gln472Arg, NP_001193906.1:p.Gln476Arg, NP_001193908.1:p.Gln476Arg, NP_001193907.1:p.Gln425Arg, NP_001193922.1:p.Gln486Arg, NP_001193921.1:p.Gln482Arg, XP_011537342.1:p.Gln476Arg, XP_011537343.1:p.Gln435Arg, XP_047285899.1:p.Gln472Arg

Select item 14727726439.

rs1472772643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:100540754 (GRCh38)
12:100934532 (GRCh37)
Canonical SPDI:: NC_000012.12:100540753:G:T
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100540754G>T, NC_000012.11:g.100934532G>T, NG_029843.1:g.71982G>T, NM_005123.4:c.1002G>T, NM_005123.3:c.1002G>T, NM_001206977.2:c.1014G>T, NM_001206977.1:c.1014G>T, NM_001206979.2:c.1014G>T, NM_001206979.1:c.1014G>T, NR_135146.2:n.1390G>T, NR_135146.1:n.1483G>T, NM_001206978.2:c.861G>T, NM_001206978.1:c.861G>T, NM_001206993.2:c.1044G>T, NM_001206993.1:c.1044G>T, NM_001206992.2:c.1032G>T, NM_001206992.1:c.1032G>T, XM_011539040.3:c.1014G>T, XM_011539040.2:c.1014G>T, XM_011539040.1:c.1014G>T, XM_011539041.3:c.891G>T, XM_011539041.2:c.891G>T, XM_011539041.1:c.891G>T, XM_047429943.1:c.1002G>T, NP_005114.1:p.Glu334Asp, NP_001193906.1:p.Glu338Asp, NP_001193908.1:p.Glu338Asp, NP_001193907.1:p.Glu287Asp, NP_001193922.1:p.Glu348Asp, NP_001193921.1:p.Glu344Asp, XP_011537342.1:p.Glu338Asp, XP_011537343.1:p.Glu297Asp, XP_047285899.1:p.Glu334Asp

Select item 147116386710.

rs1471163867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:100511069 (GRCh38)
12:100904847 (GRCh37)
Canonical SPDI:: NC_000012.12:100511068:A:T
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.100511069A>T, NC_000012.11:g.100904847A>T, NG_029843.1:g.42297A>T, NM_005123.4:c.371A>T, NM_005123.3:c.371A>T, NM_001206977.2:c.371A>T, NM_001206977.1:c.371A>T, NM_001206979.2:c.371A>T, NM_001206979.1:c.371A>T, NR_135146.2:n.754A>T, NR_135146.1:n.847A>T, NM_001206978.2:c.371A>T, NM_001206978.1:c.371A>T, NM_001206993.2:c.401A>T, NM_001206993.1:c.401A>T, NM_001206992.2:c.401A>T, NM_001206992.1:c.401A>T, XM_011539040.3:c.371A>T, XM_011539040.2:c.371A>T, XM_011539040.1:c.371A>T, XM_011539041.3:c.401A>T, XM_011539041.2:c.401A>T, XM_011539041.1:c.401A>T, XM_006719719.3:c.401A>T, XM_006719719.2:c.401A>T, XM_006719719.1:c.401A>T, XM_047429943.1:c.371A>T, XM_047429944.1:c.371A>T, NP_005114.1:p.Asp124Val, NP_001193906.1:p.Asp124Val, NP_001193908.1:p.Asp124Val, NP_001193907.1:p.Asp124Val, NP_001193922.1:p.Asp134Val, NP_001193921.1:p.Asp134Val, XP_011537342.1:p.Asp124Val, XP_011537343.1:p.Asp134Val, XP_006719782.1:p.Asp134Val, XP_047285899.1:p.Asp124Val, XP_047285900.1:p.Asp124Val

Select item 146856948611.

rs1468569486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:100510818 (GRCh38)
12:100904596 (GRCh37)
Canonical SPDI:: NC_000012.12:100510817:C:T
Gene:: NR1H4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100510818C>T, NC_000012.11:g.100904596C>T, NG_029843.1:g.42046C>T, NM_005123.4:c.120C>T, NM_005123.3:c.120C>T, NM_001206977.2:c.120C>T, NM_001206977.1:c.120C>T, NM_001206979.2:c.120C>T, NM_001206979.1:c.120C>T, NR_135146.2:n.503C>T, NR_135146.1:n.596C>T, NM_001206978.2:c.120C>T, NM_001206978.1:c.120C>T, NM_001206993.2:c.150C>T, NM_001206993.1:c.150C>T, NM_001206992.2:c.150C>T, NM_001206992.1:c.150C>T, XM_011539040.3:c.120C>T, XM_011539040.2:c.120C>T, XM_011539040.1:c.120C>T, XM_011539041.3:c.150C>T, XM_011539041.2:c.150C>T, XM_011539041.1:c.150C>T, XM_006719719.3:c.150C>T, XM_006719719.2:c.150C>T, XM_006719719.1:c.150C>T, XM_047429943.1:c.120C>T, XM_047429944.1:c.120C>T

Select item 146676875612.

rs1466768756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:100510917 (GRCh38)
12:100904695 (GRCh37)
Canonical SPDI:: NC_000012.12:100510916:C:T
Gene:: NR1H4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100510917C>T, NC_000012.11:g.100904695C>T, NG_029843.1:g.42145C>T, NM_005123.4:c.219C>T, NM_005123.3:c.219C>T, NM_001206977.2:c.219C>T, NM_001206977.1:c.219C>T, NM_001206979.2:c.219C>T, NM_001206979.1:c.219C>T, NR_135146.2:n.602C>T, NR_135146.1:n.695C>T, NM_001206978.2:c.219C>T, NM_001206978.1:c.219C>T, NM_001206993.2:c.249C>T, NM_001206993.1:c.249C>T, NM_001206992.2:c.249C>T, NM_001206992.1:c.249C>T, XM_011539040.3:c.219C>T, XM_011539040.2:c.219C>T, XM_011539040.1:c.219C>T, XM_011539041.3:c.249C>T, XM_011539041.2:c.249C>T, XM_011539041.1:c.249C>T, XM_006719719.3:c.249C>T, XM_006719719.2:c.249C>T, XM_006719719.1:c.249C>T, XM_047429943.1:c.219C>T, XM_047429944.1:c.219C>T

Select item 146538374213.

rs1465383742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:100493367 (GRCh38)
12:100887145 (GRCh37)
Canonical SPDI:: NC_000012.12:100493366:C:A
Gene:: NR1H4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.100493367C>A, NC_000012.11:g.100887145C>A, NG_029843.1:g.24595C>A, NM_005123.4:c.44C>A, NM_005123.3:c.44C>A, NM_001206977.2:c.44C>A, NM_001206977.1:c.44C>A, NM_001206979.2:c.44C>A, NM_001206979.1:c.44C>A, NR_135146.2:n.427C>A, NR_135146.1:n.520C>A, NM_001206978.2:c.44C>A, NM_001206978.1:c.44C>A, XM_011539040.3:c.44C>A, XM_011539040.2:c.44C>A, XM_011539040.1:c.44C>A, XM_047429943.1:c.44C>A, XM_047429944.1:c.44C>A, NP_005114.1:p.Thr15Asn, NP_001193906.1:p.Thr15Asn, NP_001193908.1:p.Thr15Asn, NP_001193907.1:p.Thr15Asn, XP_011537342.1:p.Thr15Asn, XP_047285899.1:p.Thr15Asn, XP_047285900.1:p.Thr15Asn

Select item 146388341514.

rs1463883415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:100510914 (GRCh38)
12:100904692 (GRCh37)
Canonical SPDI:: NC_000012.12:100510913:C:T
Gene:: NR1H4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100510914C>T, NC_000012.11:g.100904692C>T, NG_029843.1:g.42142C>T, NM_005123.4:c.216C>T, NM_005123.3:c.216C>T, NM_001206977.2:c.216C>T, NM_001206977.1:c.216C>T, NM_001206979.2:c.216C>T, NM_001206979.1:c.216C>T, NR_135146.2:n.599C>T, NR_135146.1:n.692C>T, NM_001206978.2:c.216C>T, NM_001206978.1:c.216C>T, NM_001206993.2:c.246C>T, NM_001206993.1:c.246C>T, NM_001206992.2:c.246C>T, NM_001206992.1:c.246C>T, XM_011539040.3:c.216C>T, XM_011539040.2:c.216C>T, XM_011539040.1:c.216C>T, XM_011539041.3:c.246C>T, XM_011539041.2:c.246C>T, XM_011539041.1:c.246C>T, XM_006719719.3:c.246C>T, XM_006719719.2:c.246C>T, XM_006719719.1:c.246C>T, XM_047429943.1:c.216C>T, XM_047429944.1:c.216C>T

Select item 144796899815.

rs1447968998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:100540675 (GRCh38)
12:100934453 (GRCh37)
Canonical SPDI:: NC_000012.12:100540674:T:C
Gene:: NR1H4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100540675T>C, NC_000012.11:g.100934453T>C, NG_029843.1:g.71903T>C, NM_005123.4:c.923T>C, NM_005123.3:c.923T>C, NM_001206977.2:c.935T>C, NM_001206977.1:c.935T>C, NM_001206979.2:c.935T>C, NM_001206979.1:c.935T>C, NR_135146.2:n.1311T>C, NR_135146.1:n.1404T>C, NM_001206978.2:c.782T>C, NM_001206978.1:c.782T>C, NM_001206993.2:c.965T>C, NM_001206993.1:c.965T>C, NM_001206992.2:c.953T>C, NM_001206992.1:c.953T>C, XM_011539040.3:c.935T>C, XM_011539040.2:c.935T>C, XM_011539040.1:c.935T>C, XM_011539041.3:c.812T>C, XM_011539041.2:c.812T>C, XM_011539041.1:c.812T>C, XM_047429943.1:c.923T>C, NP_005114.1:p.Phe308Ser, NP_001193906.1:p.Phe312Ser, NP_001193908.1:p.Phe312Ser, NP_001193907.1:p.Phe261Ser, NP_001193922.1:p.Phe322Ser, NP_001193921.1:p.Phe318Ser, XP_011537342.1:p.Phe312Ser, XP_011537343.1:p.Phe271Ser, XP_047285899.1:p.Phe308Ser

Select item 144784349116.

rs1447843491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:100532516 (GRCh38)
12:100926294 (GRCh37)
Canonical SPDI:: NC_000012.12:100532515:C:T
Gene:: NR1H4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100532516C>T, NC_000012.11:g.100926294C>T, NG_029843.1:g.63744C>T, NM_005123.4:c.504C>T, NM_005123.3:c.504C>T, NM_001206977.2:c.504C>T, NM_001206977.1:c.504C>T, NM_001206979.2:c.504C>T, NM_001206979.1:c.504C>T, NR_135146.2:n.887C>T, NR_135146.1:n.980C>T, NM_001206993.2:c.534C>T, NM_001206993.1:c.534C>T, NM_001206992.2:c.534C>T, NM_001206992.1:c.534C>T, XM_011539040.3:c.504C>T, XM_011539040.2:c.504C>T, XM_011539040.1:c.504C>T, XM_006719719.3:c.534C>T, XM_006719719.2:c.534C>T, XM_006719719.1:c.534C>T, XM_047429943.1:c.504C>T, XM_047429944.1:c.504C>T

Select item 144228112817.

rs1442281128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:100510897 (GRCh38)
12:100904675 (GRCh37)
Canonical SPDI:: NC_000012.12:100510896:T:C
Gene:: NR1H4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.100510897T>C, NC_000012.11:g.100904675T>C, NG_029843.1:g.42125T>C, NM_005123.4:c.199T>C, NM_005123.3:c.199T>C, NM_001206977.2:c.199T>C, NM_001206977.1:c.199T>C, NM_001206979.2:c.199T>C, NM_001206979.1:c.199T>C, NR_135146.2:n.582T>C, NR_135146.1:n.675T>C, NM_001206978.2:c.199T>C, NM_001206978.1:c.199T>C, NM_001206993.2:c.229T>C, NM_001206993.1:c.229T>C, NM_001206992.2:c.229T>C, NM_001206992.1:c.229T>C, XM_011539040.3:c.199T>C, XM_011539040.2:c.199T>C, XM_011539040.1:c.199T>C, XM_011539041.3:c.229T>C, XM_011539041.2:c.229T>C, XM_011539041.1:c.229T>C, XM_006719719.3:c.229T>C, XM_006719719.2:c.229T>C, XM_006719719.1:c.229T>C, XM_047429943.1:c.199T>C, XM_047429944.1:c.199T>C, NP_005114.1:p.Tyr67His, NP_001193906.1:p.Tyr67His, NP_001193908.1:p.Tyr67His, NP_001193907.1:p.Tyr67His, NP_001193922.1:p.Tyr77His, NP_001193921.1:p.Tyr77His, XP_011537342.1:p.Tyr67His, XP_011537343.1:p.Tyr77His, XP_006719782.1:p.Tyr77His, XP_047285899.1:p.Tyr67His, XP_047285900.1:p.Tyr67His

Select item 144103657818.

rs1441036578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:100493345 (GRCh38)
12:100887123 (GRCh37)
Canonical SPDI:: NC_000012.12:100493344:A:G,NC_000012.12:100493344:A:T
Gene:: NR1H4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.100493345A>G, NC_000012.12:g.100493345A>T, NC_000012.11:g.100887123A>G, NC_000012.11:g.100887123A>T, NG_029843.1:g.24573A>G, NG_029843.1:g.24573A>T, NM_005123.4:c.22A>G, NM_005123.4:c.22A>T, NM_005123.3:c.22A>G, NM_005123.3:c.22A>T, NM_001206977.2:c.22A>G, NM_001206977.2:c.22A>T, NM_001206977.1:c.22A>G, NM_001206977.1:c.22A>T, NM_001206979.2:c.22A>G, NM_001206979.2:c.22A>T, NM_001206979.1:c.22A>G, NM_001206979.1:c.22A>T, NR_135146.2:n.405A>G, NR_135146.2:n.405A>T, NR_135146.1:n.498A>G, NR_135146.1:n.498A>T, NM_001206978.2:c.22A>G, NM_001206978.2:c.22A>T, NM_001206978.1:c.22A>G, NM_001206978.1:c.22A>T, XM_011539040.3:c.22A>G, XM_011539040.3:c.22A>T, XM_011539040.2:c.22A>G, XM_011539040.2:c.22A>T, XM_011539040.1:c.22A>G, XM_011539040.1:c.22A>T, XM_047429943.1:c.22A>G, XM_047429943.1:c.22A>T, XM_047429944.1:c.22A>G, XM_047429944.1:c.22A>T, NP_005114.1:p.Ile8Val, NP_005114.1:p.Ile8Phe, NP_001193906.1:p.Ile8Val, NP_001193906.1:p.Ile8Phe, NP_001193908.1:p.Ile8Val, NP_001193908.1:p.Ile8Phe, NP_001193907.1:p.Ile8Val, NP_001193907.1:p.Ile8Phe, XP_011537342.1:p.Ile8Val, XP_011537342.1:p.Ile8Phe, XP_047285899.1:p.Ile8Val, XP_047285899.1:p.Ile8Phe, XP_047285900.1:p.Ile8Val, XP_047285900.1:p.Ile8Phe

Select item 144055339819.

rs1440553398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:100540694 (GRCh38)
12:100934472 (GRCh37)
Canonical SPDI:: NC_000012.12:100540693:A:G
Gene:: NR1H4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100540694A>G, NC_000012.11:g.100934472A>G, NG_029843.1:g.71922A>G, NM_005123.4:c.942A>G, NM_005123.3:c.942A>G, NM_001206977.2:c.954A>G, NM_001206977.1:c.954A>G, NM_001206979.2:c.954A>G, NM_001206979.1:c.954A>G, NR_135146.2:n.1330A>G, NR_135146.1:n.1423A>G, NM_001206978.2:c.801A>G, NM_001206978.1:c.801A>G, NM_001206993.2:c.984A>G, NM_001206993.1:c.984A>G, NM_001206992.2:c.972A>G, NM_001206992.1:c.972A>G, XM_011539040.3:c.954A>G, XM_011539040.2:c.954A>G, XM_011539040.1:c.954A>G, XM_011539041.3:c.831A>G, XM_011539041.2:c.831A>G, XM_011539041.1:c.831A>G, XM_047429943.1:c.942A>G

Select item 143901638220.

rs1439016382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:100561974 (GRCh38)
12:100955752 (GRCh37)
Canonical SPDI:: NC_000012.12:100561973:A:T
Gene:: NR1H4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.100561974A>T, NC_000012.11:g.100955752A>T, NG_029843.1:g.93202A>T, NM_005123.4:c.1156A>T, NM_005123.3:c.1156A>T, NM_001206977.2:c.1168A>T, NM_001206977.1:c.1168A>T, NM_001206979.2:c.1168A>T, NM_001206979.1:c.1168A>T, NR_135146.2:n.1544A>T, NR_135146.1:n.1637A>T, NM_001206978.2:c.1015A>T, NM_001206978.1:c.1015A>T, NM_001206993.2:c.1198A>T, NM_001206993.1:c.1198A>T, NM_001206992.2:c.1186A>T, NM_001206992.1:c.1186A>T, XM_011539040.3:c.1168A>T, XM_011539040.2:c.1168A>T, XM_011539040.1:c.1168A>T, XM_011539041.3:c.1045A>T, XM_011539041.2:c.1045A>T, XM_011539041.1:c.1045A>T, XM_047429943.1:c.1156A>T, NP_005114.1:p.Thr386Ser, NP_001193906.1:p.Thr390Ser, NP_001193908.1:p.Thr390Ser, NP_001193907.1:p.Thr339Ser, NP_001193922.1:p.Thr400Ser, NP_001193921.1:p.Thr396Ser, XP_011537342.1:p.Thr390Ser, XP_011537343.1:p.Thr349Ser, XP_047285899.1:p.Thr386Ser

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