SNP Links for Protein (Select 42560246) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 438

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Select item 14862943901.

rs1486294390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43520122 (GRCh38)
6:43487860 (GRCh37)
Canonical SPDI:: NC_000006.12:43520121:A:G
Gene:: POLR1C (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_000006.12:g.43520122A>G, NC_000006.11:g.43487860A>G, NG_028283.3:g.15421A>G, NM_203290.4:c.439A>G, NM_203290.3:c.439A>G, NM_203290.2:c.439A>G, NM_001363658.2:c.439A>G, NM_001363658.1:c.439A>G, NM_001318876.2:c.439A>G, NM_001318876.1:c.439A>G, NM_004875.2:c.439A>G, XM_047419577.1:c.439A>G, NM_004875.1:c.439A>G, NP_976035.1:p.Thr147Ala, NP_001350587.1:p.Thr147Ala, NP_001305805.1:p.Thr147Ala, XP_047275533.1:p.Thr147Ala

Select item 14852790422.

rs1485279042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43520325 (GRCh38)
6:43488063 (GRCh37)
Canonical SPDI:: NC_000006.12:43520324:T:C
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43520325T>C, NC_000006.11:g.43488063T>C, NG_028283.3:g.15624T>C, NM_203290.4:c.553T>C, NM_203290.3:c.553T>C, NM_203290.2:c.553T>C, NM_001363658.2:c.553T>C, NM_001363658.1:c.553T>C, NM_001318876.2:c.553T>C, NM_001318876.1:c.553T>C, NM_004875.2:c.553T>C, XM_047419577.1:c.553T>C, NM_004875.1:c.553T>C, NP_976035.1:p.Phe185Leu, NP_001350587.1:p.Phe185Leu, NP_001305805.1:p.Phe185Leu, XP_047275533.1:p.Phe185Leu

Select item 14850956553.

rs1485095655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43519432 (GRCh38)
6:43487170 (GRCh37)
Canonical SPDI:: NC_000006.12:43519431:C:T
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43519432C>T, NC_000006.11:g.43487170C>T, NG_028283.3:g.14731C>T, NM_203290.4:c.241C>T, NM_203290.3:c.241C>T, NM_203290.2:c.241C>T, NM_001363658.2:c.241C>T, NM_001363658.1:c.241C>T, NM_001318876.2:c.241C>T, NM_001318876.1:c.241C>T, NM_004875.2:c.241C>T, XM_047419577.1:c.241C>T, NM_004875.1:c.241C>T

Select item 14832325214.

rs1483232521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:43519784 (GRCh38)
6:43487522 (GRCh37)
Canonical SPDI:: NC_000006.12:43519783:C:G,NC_000006.12:43519783:C:T
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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_000006.12:g.43519784C>G, NC_000006.12:g.43519784C>T, NC_000006.11:g.43487522C>G, NC_000006.11:g.43487522C>T, NG_028283.3:g.15083C>G, NG_028283.3:g.15083C>T, NM_203290.4:c.328C>G, NM_203290.4:c.328C>T, NM_203290.3:c.328C>G, NM_203290.3:c.328C>T, NM_203290.2:c.328C>G, NM_203290.2:c.328C>T, NM_001363658.2:c.328C>G, NM_001363658.2:c.328C>T, NM_001363658.1:c.328C>G, NM_001363658.1:c.328C>T, NM_001318876.2:c.328C>G, NM_001318876.2:c.328C>T, NM_001318876.1:c.328C>G, NM_001318876.1:c.328C>T, NM_004875.2:c.328C>G, NM_004875.2:c.328C>T, XM_047419577.1:c.328C>G, XM_047419577.1:c.328C>T, NM_004875.1:c.328C>G, NM_004875.1:c.328C>T, NP_976035.1:p.Leu110Val, NP_001350587.1:p.Leu110Val, NP_001305805.1:p.Leu110Val, XP_047275533.1:p.Leu110Val

Select item 14776253915.

rs1477625391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43521250 (GRCh38)
6:43488988 (GRCh37)
Canonical SPDI:: NC_000006.12:43521249:G:A
Gene:: POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43521250G>A, NC_000006.11:g.43488988G>A, NG_028283.3:g.16549G>A, NM_203290.4:c.991G>A, NM_203290.3:c.991G>A, NM_203290.2:c.991G>A, NG_051658.1:g.59826C>T, NP_976035.1:p.Gly331Arg

Select item 14752854626.

rs1475285462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:43520083 (GRCh38)
6:43487821 (GRCh37)
Canonical SPDI:: NC_000006.12:43520082:G:T
Gene:: POLR1C (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43520083G>T, NC_000006.11:g.43487821G>T, NG_028283.3:g.15382G>T, NM_203290.4:c.400G>T, NM_203290.3:c.400G>T, NM_203290.2:c.400G>T, NM_001363658.2:c.400G>T, NM_001363658.1:c.400G>T, NM_001318876.2:c.400G>T, NM_001318876.1:c.400G>T, NM_004875.2:c.400G>T, XM_047419577.1:c.400G>T, NM_004875.1:c.400G>T, NP_976035.1:p.Glu134Ter, NP_001350587.1:p.Glu134Ter, NP_001305805.1:p.Glu134Ter, XP_047275533.1:p.Glu134Ter

Select item 14665286157.

rs1466528615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43519742 (GRCh38)
6:43487480 (GRCh37)
Canonical SPDI:: NC_000006.12:43519741:A:G
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.43519742A>G, NC_000006.11:g.43487480A>G, NG_028283.3:g.15041A>G, NM_203290.4:c.286A>G, NM_203290.3:c.286A>G, NM_203290.2:c.286A>G, NM_001363658.2:c.286A>G, NM_001363658.1:c.286A>G, NM_001318876.2:c.286A>G, NM_001318876.1:c.286A>G, NM_004875.2:c.286A>G, XM_047419577.1:c.286A>G, NM_004875.1:c.286A>G, NP_976035.1:p.Asn96Asp, NP_001350587.1:p.Asn96Asp, NP_001305805.1:p.Asn96Asp, XP_047275533.1:p.Asn96Asp

Select item 14654595518.

rs1465459551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43521232 (GRCh38)
6:43488970 (GRCh37)
Canonical SPDI:: NC_000006.12:43521231:G:A
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43521232G>A, NC_000006.11:g.43488970G>A, NG_028283.3:g.16531G>A, NM_203290.4:c.973G>A, NM_203290.3:c.973G>A, NM_203290.2:c.973G>A, NG_051658.1:g.59844C>T, NP_976035.1:p.Ala325Thr

Select item 14643848359.

rs1464384835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43519368 (GRCh38)
6:43487106 (GRCh37)
Canonical SPDI:: NC_000006.12:43519367:C:A
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43519368C>A, NC_000006.11:g.43487106C>A, NG_028283.3:g.14667C>A, NM_203290.4:c.177C>A, NM_203290.3:c.177C>A, NM_203290.2:c.177C>A, NM_001363658.2:c.177C>A, NM_001363658.1:c.177C>A, NM_001318876.2:c.177C>A, NM_001318876.1:c.177C>A, NM_004875.2:c.177C>A, XM_047419577.1:c.177C>A, NM_004875.1:c.177C>A, NP_976035.1:p.Asn59Lys, NP_001350587.1:p.Asn59Lys, NP_001305805.1:p.Asn59Lys, XP_047275533.1:p.Asn59Lys

Select item 146273261610.

rs1462732616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:43519345 (GRCh38)
6:43487083 (GRCh37)
Canonical SPDI:: NC_000006.12:43519344:G:C
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.43519345G>C, NC_000006.11:g.43487083G>C, NG_028283.3:g.14644G>C, NM_203290.4:c.154G>C, NM_203290.3:c.154G>C, NM_203290.2:c.154G>C, NM_001363658.2:c.154G>C, NM_001363658.1:c.154G>C, NM_001318876.2:c.154G>C, NM_001318876.1:c.154G>C, NM_004875.2:c.154G>C, XM_047419577.1:c.154G>C, NM_004875.1:c.154G>C, NP_976035.1:p.Asp52His, NP_001350587.1:p.Asp52His, NP_001305805.1:p.Asp52His, XP_047275533.1:p.Asp52His

Select item 146265009511.

rs1462650095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43519391 (GRCh38)
6:43487129 (GRCh37)
Canonical SPDI:: NC_000006.12:43519390:G:A
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43519391G>A, NC_000006.11:g.43487129G>A, NG_028283.3:g.14690G>A, NM_203290.4:c.200G>A, NM_203290.3:c.200G>A, NM_203290.2:c.200G>A, NM_001363658.2:c.200G>A, NM_001363658.1:c.200G>A, NM_001318876.2:c.200G>A, NM_001318876.1:c.200G>A, NM_004875.2:c.200G>A, XM_047419577.1:c.200G>A, NM_004875.1:c.200G>A, NP_976035.1:p.Gly67Glu, NP_001350587.1:p.Gly67Glu, NP_001305805.1:p.Gly67Glu, XP_047275533.1:p.Gly67Glu

Select item 146228192312.

rs1462281923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43519798 (GRCh38)
6:43487536 (GRCh37)
Canonical SPDI:: NC_000006.12:43519797:C:T
Gene:: POLR1C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43519798C>T, NC_000006.11:g.43487536C>T, NG_028283.3:g.15097C>T, NM_203290.4:c.342C>T, NM_203290.3:c.342C>T, NM_203290.2:c.342C>T, NM_001363658.2:c.342C>T, NM_001363658.1:c.342C>T, NM_001318876.2:c.342C>T, NM_001318876.1:c.342C>T, NM_004875.2:c.342C>T, XM_047419577.1:c.342C>T, NM_004875.1:c.342C>T

Select item 145905722313.

rs1459057223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43520709 (GRCh38)
6:43488447 (GRCh37)
Canonical SPDI:: NC_000006.12:43520708:G:A
Gene:: POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43520709G>A, NC_000006.11:g.43488447G>A, NG_028283.3:g.16008G>A, NM_203290.4:c.740G>A, NM_203290.3:c.740G>A, NM_203290.2:c.740G>A, NM_001363658.2:c.740G>A, NM_001363658.1:c.740G>A, NM_001318876.2:c.740G>A, NM_001318876.1:c.740G>A, NG_051658.1:g.60367C>T, NM_004875.2:c.740G>A, XM_047419577.1:c.740G>A, NM_004875.1:c.740G>A, NP_976035.1:p.Gly247Glu, NP_001350587.1:p.Gly247Glu, NP_001305805.1:p.Gly247Glu, XP_047275533.1:p.Gly247Glu

Select item 145698660014.

rs1456986600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:43517140 (GRCh38)
6:43484878 (GRCh37)
Canonical SPDI:: NC_000006.12:43517139:C:G,NC_000006.12:43517139:C:T
Gene:: POLR1C (Varview), YIPF3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.43517140C>G, NC_000006.12:g.43517140C>T, NC_000006.11:g.43484878C>G, NC_000006.11:g.43484878C>T, NG_028283.3:g.12439C>G, NG_028283.3:g.12439C>T, NM_203290.4:c.31C>G, NM_203290.4:c.31C>T, NM_203290.3:c.31C>G, NM_203290.3:c.31C>T, NM_203290.2:c.31C>G, NM_203290.2:c.31C>T, NM_001363658.2:c.31C>G, NM_001363658.2:c.31C>T, NM_001363658.1:c.31C>G, NM_001363658.1:c.31C>T, NM_001318876.2:c.31C>G, NM_001318876.2:c.31C>T, NM_001318876.1:c.31C>G, NM_001318876.1:c.31C>T, NM_004875.2:c.31C>G, NM_004875.2:c.31C>T, XM_047419577.1:c.31C>G, XM_047419577.1:c.31C>T, NM_004875.1:c.31C>G, NM_004875.1:c.31C>T, NP_976035.1:p.Arg11Gly, NP_976035.1:p.Arg11Trp, NP_001350587.1:p.Arg11Gly, NP_001350587.1:p.Arg11Trp, NP_001305805.1:p.Arg11Gly, NP_001305805.1:p.Arg11Trp, XP_047275533.1:p.Arg11Gly, XP_047275533.1:p.Arg11Trp

Select item 145392118115.

rs1453921181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43520412 (GRCh38)
6:43488150 (GRCh37)
Canonical SPDI:: NC_000006.12:43520411:T:C
Gene:: POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43520412T>C, NC_000006.11:g.43488150T>C, NG_028283.3:g.15711T>C, NM_203290.4:c.640T>C, NM_203290.3:c.640T>C, NM_203290.2:c.640T>C, NM_001363658.2:c.640T>C, NM_001363658.1:c.640T>C, NM_001318876.2:c.640T>C, NM_001318876.1:c.640T>C, NG_051658.1:g.60664A>G, NM_004875.2:c.640T>C, XM_047419577.1:c.640T>C, NM_004875.1:c.640T>C, NP_976035.1:p.Cys214Arg, NP_001350587.1:p.Cys214Arg, NP_001305805.1:p.Cys214Arg, XP_047275533.1:p.Cys214Arg

Select item 145213735916.

rs1452137359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43520134 (GRCh38)
6:43487872 (GRCh37)
Canonical SPDI:: NC_000006.12:43520133:C:T
Gene:: POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43520134C>T, NC_000006.11:g.43487872C>T, NG_028283.3:g.15433C>T, NM_203290.4:c.451C>T, NM_203290.3:c.451C>T, NM_203290.2:c.451C>T, NM_001363658.2:c.451C>T, NM_001363658.1:c.451C>T, NM_001318876.2:c.451C>T, NM_001318876.1:c.451C>T, NM_004875.2:c.451C>T, XM_047419577.1:c.451C>T, NM_004875.1:c.451C>T, NP_976035.1:p.His151Tyr, NP_001350587.1:p.His151Tyr, NP_001305805.1:p.His151Tyr, XP_047275533.1:p.His151Tyr

Select item 145203762317.

rs1452037623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:43521193 (GRCh38)
6:43488931 (GRCh37)
Canonical SPDI:: NC_000006.12:43521192:T:A
Gene:: POLR1C (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43521193T>A, NC_000006.11:g.43488931T>A, NG_028283.3:g.16492T>A, NM_203290.4:c.934T>A, NM_203290.3:c.934T>A, NM_203290.2:c.934T>A, NG_051658.1:g.59883A>T, NP_976035.1:p.Ser312Thr

Select item 145115460718.

rs1451154607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43521296 (GRCh38)
6:43489034 (GRCh37)
Canonical SPDI:: NC_000006.12:43521295:A:G
Gene:: POLR1C (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.43521296A>G, NC_000006.11:g.43489034A>G, NG_028283.3:g.16595A>G, NM_203290.4:c.1037A>G, NM_203290.3:c.1037A>G, NM_203290.2:c.1037A>G, NG_051658.1:g.59780T>C, NP_976035.1:p.Asp346Gly

Select item 144661815319.

rs1446618153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43521209 (GRCh38)
6:43488947 (GRCh37)
Canonical SPDI:: NC_000006.12:43521208:C:T
Gene:: POLR1C (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000006.12:g.43521209C>T, NC_000006.11:g.43488947C>T, NG_028283.3:g.16508C>T, NM_203290.4:c.950C>T, NM_203290.3:c.950C>T, NM_203290.2:c.950C>T, NG_051658.1:g.59867G>A, NP_976035.1:p.Pro317Leu

Select item 144599867320.

rs1445998673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43520678 (GRCh38)
6:43488416 (GRCh37)
Canonical SPDI:: NC_000006.12:43520677:C:T
Gene:: POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43520678C>T, NC_000006.11:g.43488416C>T, NG_028283.3:g.15977C>T, NM_203290.4:c.709C>T, NM_203290.3:c.709C>T, NM_203290.2:c.709C>T, NM_001363658.2:c.709C>T, NM_001363658.1:c.709C>T, NM_001318876.2:c.709C>T, NM_001318876.1:c.709C>T, NG_051658.1:g.60398G>A, NM_004875.2:c.709C>T, XM_047419577.1:c.709C>T, NM_004875.1:c.709C>T, NP_976035.1:p.Pro237Ser, NP_001350587.1:p.Pro237Ser, NP_001305805.1:p.Pro237Ser, XP_047275533.1:p.Pro237Ser

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