SNP Links for Protein (Select 767939349) - SNP

Links from Protein

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Select item 14892568651.

rs1489256865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:44286231 (GRCh38)
6:44253968 (GRCh37)
Canonical SPDI:: NC_000006.12:44286230:G:C
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44286231G>C, NC_000006.11:g.44253968G>C, NM_182539.4:c.579C>G, NM_182539.3:c.579C>G, XM_006715009.4:c.282C>G, XM_006715009.3:c.282C>G, XM_006715009.2:c.282C>G, XM_006715009.1:c.282C>G, XM_011514338.3:c.579C>G, XM_011514338.2:c.579C>G, XM_011514338.1:c.579C>G, XM_005248873.3:c.579C>G, XM_005248873.2:c.579C>G, XM_005248873.1:c.579C>G, XM_011514339.3:c.282C>G, XM_011514339.2:c.282C>G, XM_011514339.1:c.282C>G, XM_005248874.3:c.282C>G, XM_005248874.2:c.282C>G, XM_005248874.1:c.282C>G, XM_005248872.2:c.579C>G, XM_005248872.1:c.579C>G, XM_047418272.1:c.579C>G, XM_047418273.1:c.579C>G

Select item 14872791272.

rs1487279127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:44287725 (GRCh38)
6:44255462 (GRCh37)
Canonical SPDI:: NC_000006.12:44287724:C:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44287725C>A, NC_000006.11:g.44255462C>A, NM_182539.4:c.101G>T, NM_182539.3:c.101G>T, XM_011514338.3:c.101G>T, XM_011514338.2:c.101G>T, XM_011514338.1:c.101G>T, XM_005248873.3:c.101G>T, XM_005248873.2:c.101G>T, XM_005248873.1:c.101G>T, XM_005248872.2:c.101G>T, XM_005248872.1:c.101G>T, XM_047418272.1:c.101G>T, XM_047418273.1:c.101G>T, NP_872345.2:p.Ser34Ile, XP_011512640.1:p.Ser34Ile, XP_005248930.1:p.Ser34Ile, XP_005248929.1:p.Ser34Ile, XP_047274228.1:p.Ser34Ile, XP_047274229.1:p.Ser34Ile

Select item 14847299053.

rs1484729905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44287751 (GRCh38)
6:44255488 (GRCh37)
Canonical SPDI:: NC_000006.12:44287750:G:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000093/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44287751G>A, NC_000006.11:g.44255488G>A, NM_182539.4:c.75C>T, NM_182539.3:c.75C>T, XM_011514338.3:c.75C>T, XM_011514338.2:c.75C>T, XM_011514338.1:c.75C>T, XM_005248873.3:c.75C>T, XM_005248873.2:c.75C>T, XM_005248873.1:c.75C>T, XM_005248872.2:c.75C>T, XM_005248872.1:c.75C>T, XM_047418272.1:c.75C>T, XM_047418273.1:c.75C>T

Select item 14842819174.

rs1484281917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44286394 (GRCh38)
6:44254131 (GRCh37)
Canonical SPDI:: NC_000006.12:44286393:C:T
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.44286394C>T, NC_000006.11:g.44254131C>T, NM_182539.4:c.416G>A, NM_182539.3:c.416G>A, XM_006715009.4:c.119G>A, XM_006715009.3:c.119G>A, XM_006715009.2:c.119G>A, XM_006715009.1:c.119G>A, XM_011514338.3:c.416G>A, XM_011514338.2:c.416G>A, XM_011514338.1:c.416G>A, XM_005248873.3:c.416G>A, XM_005248873.2:c.416G>A, XM_005248873.1:c.416G>A, XM_011514339.3:c.119G>A, XM_011514339.2:c.119G>A, XM_011514339.1:c.119G>A, XM_005248874.3:c.119G>A, XM_005248874.2:c.119G>A, XM_005248874.1:c.119G>A, XM_005248872.2:c.416G>A, XM_005248872.1:c.416G>A, XM_047418272.1:c.416G>A, XM_047418273.1:c.416G>A, NP_872345.2:p.Trp139Ter, XP_006715072.1:p.Trp40Ter, XP_011512640.1:p.Trp139Ter, XP_005248930.1:p.Trp139Ter, XP_011512641.1:p.Trp40Ter, XP_005248931.1:p.Trp40Ter, XP_005248929.1:p.Trp139Ter, XP_047274228.1:p.Trp139Ter, XP_047274229.1:p.Trp139Ter

Select item 14841029875.

rs1484102987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:44282473 (GRCh38)
6:44250210 (GRCh37)
Canonical SPDI:: NC_000006.12:44282472:C:G
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_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.44282473C>G, NC_000006.11:g.44250210C>G, NM_182539.4:c.933G>C, NM_182539.3:c.933G>C, XM_006715009.4:c.636G>C, XM_006715009.3:c.636G>C, XM_006715009.2:c.636G>C, XM_006715009.1:c.636G>C, XM_011514338.3:c.933G>C, XM_011514338.2:c.933G>C, XM_011514338.1:c.933G>C, XM_005248873.3:c.933G>C, XM_005248873.2:c.933G>C, XM_005248873.1:c.933G>C, XM_011514339.3:c.636G>C, XM_011514339.2:c.636G>C, XM_011514339.1:c.636G>C, XM_005248874.3:c.636G>C, XM_005248874.2:c.636G>C, XM_005248874.1:c.636G>C, XM_005248872.2:c.933G>C, XM_005248872.1:c.933G>C, XM_047418272.1:c.933G>C, XM_047418273.1:c.933G>C, NP_872345.2:p.Glu311Asp, XP_006715072.1:p.Glu212Asp, XP_011512640.1:p.Glu311Asp, XP_005248930.1:p.Glu311Asp, XP_011512641.1:p.Glu212Asp, XP_005248931.1:p.Glu212Asp, XP_005248929.1:p.Glu311Asp, XP_047274228.1:p.Glu311Asp, XP_047274229.1:p.Glu311Asp

Select item 14787892376.

rs1478789237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 6:44282240 (GRCh38)
6:44249977 (GRCh37)
Canonical SPDI:: NC_000006.12:44282236:TTGTTG:TTG
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.44282237TTG[1], NC_000006.11:g.44249974TTG[1], NM_182539.4:c.1164CAA[1], NM_182539.3:c.1164CAA[1], XM_006715009.4:c.867CAA[1], XM_006715009.3:c.867CAA[1], XM_006715009.2:c.867CAA[1], XM_006715009.1:c.867CAA[1], XM_011514338.3:c.1164CAA[1], XM_011514338.2:c.1164CAA[1], XM_011514338.1:c.1164CAA[1], XM_011514339.3:c.867CAA[1], XM_011514339.2:c.867CAA[1], XM_011514339.1:c.867CAA[1], XM_005248874.3:c.867CAA[1], XM_005248874.2:c.867CAA[1], XM_005248874.1:c.867CAA[1], XM_005248872.2:c.1164CAA[1], XM_005248872.1:c.1164CAA[1], XM_047418272.1:c.1164CAA[1], XM_047418273.1:c.1164CAA[1], NP_872345.2:p.Asn389del, XP_006715072.1:p.Asn290del, XP_011512640.1:p.Asn389del, XP_011512641.1:p.Asn290del, XP_005248931.1:p.Asn290del, XP_005248929.1:p.Asn389del, XP_047274228.1:p.Asn389del, XP_047274229.1:p.Asn389del

Select item 14785818087.

rs1478581808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:44282548 (GRCh38)
6:44250285 (GRCh37)
Canonical SPDI:: NC_000006.12:44282547:C:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.44282548C>A, NC_000006.11:g.44250285C>A, NM_182539.4:c.858G>T, NM_182539.3:c.858G>T, XM_006715009.4:c.561G>T, XM_006715009.3:c.561G>T, XM_006715009.2:c.561G>T, XM_006715009.1:c.561G>T, XM_011514338.3:c.858G>T, XM_011514338.2:c.858G>T, XM_011514338.1:c.858G>T, XM_005248873.3:c.858G>T, XM_005248873.2:c.858G>T, XM_005248873.1:c.858G>T, XM_011514339.3:c.561G>T, XM_011514339.2:c.561G>T, XM_011514339.1:c.561G>T, XM_005248874.3:c.561G>T, XM_005248874.2:c.561G>T, XM_005248874.1:c.561G>T, XM_005248872.2:c.858G>T, XM_005248872.1:c.858G>T, XM_047418272.1:c.858G>T, XM_047418273.1:c.858G>T

Select item 14777532848.

rs1477753284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44287787 (GRCh38)
6:44255524 (GRCh37)
Canonical SPDI:: NC_000006.12:44287786:G:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_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.44287787G>A, NC_000006.11:g.44255524G>A, NM_182539.4:c.39C>T, NM_182539.3:c.39C>T, XM_011514338.3:c.39C>T, XM_011514338.2:c.39C>T, XM_011514338.1:c.39C>T, XM_005248873.3:c.39C>T, XM_005248873.2:c.39C>T, XM_005248873.1:c.39C>T, XM_005248872.2:c.39C>T, XM_005248872.1:c.39C>T, XM_047418272.1:c.39C>T, XM_047418273.1:c.39C>T

Select item 14763582799.

rs1476358279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:44280294 (GRCh38)
6:44248031 (GRCh37)
Canonical SPDI:: NC_000006.12:44280293:G:C
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.44280294G>C, NC_000006.11:g.44248031G>C, NM_182539.4:c.1393C>G, NM_182539.3:c.1393C>G, XM_006715009.4:c.1096C>G, XM_006715009.3:c.1096C>G, XM_006715009.2:c.1096C>G, XM_006715009.1:c.1096C>G, XM_011514338.3:c.1393C>G, XM_011514338.2:c.1393C>G, XM_011514338.1:c.1393C>G, XM_005248873.3:c.1132C>G, XM_005248873.2:c.1132C>G, XM_005248873.1:c.1132C>G, XM_011514339.3:c.1096C>G, XM_011514339.2:c.1096C>G, XM_011514339.1:c.1096C>G, XM_005248874.3:c.1096C>G, XM_005248874.2:c.1096C>G, XM_005248874.1:c.1096C>G, XM_005248872.2:c.1393C>G, XM_005248872.1:c.1393C>G, XM_047418272.1:c.1393C>G, XM_047418273.1:c.1393C>G, NP_872345.2:p.Leu465Val, XP_006715072.1:p.Leu366Val, XP_011512640.1:p.Leu465Val, XP_005248930.1:p.Leu378Val, XP_011512641.1:p.Leu366Val, XP_005248931.1:p.Leu366Val, XP_005248929.1:p.Leu465Val, XP_047274228.1:p.Leu465Val, XP_047274229.1:p.Leu465Val

Select item 147245752610.

rs1472457526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:44286039 (GRCh38)
6:44253776 (GRCh37)
Canonical SPDI:: NC_000006.12:44286038:C:G
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44286039C>G, NC_000006.11:g.44253776C>G, NM_182539.4:c.771G>C, NM_182539.3:c.771G>C, XM_006715009.4:c.474G>C, XM_006715009.3:c.474G>C, XM_006715009.2:c.474G>C, XM_006715009.1:c.474G>C, XM_011514338.3:c.771G>C, XM_011514338.2:c.771G>C, XM_011514338.1:c.771G>C, XM_005248873.3:c.771G>C, XM_005248873.2:c.771G>C, XM_005248873.1:c.771G>C, XM_011514339.3:c.474G>C, XM_011514339.2:c.474G>C, XM_011514339.1:c.474G>C, XM_005248874.3:c.474G>C, XM_005248874.2:c.474G>C, XM_005248874.1:c.474G>C, XM_005248872.2:c.771G>C, XM_005248872.1:c.771G>C, XM_047418272.1:c.771G>C, XM_047418273.1:c.771G>C, NP_872345.2:p.Glu257Asp, XP_006715072.1:p.Glu158Asp, XP_011512640.1:p.Glu257Asp, XP_005248930.1:p.Glu257Asp, XP_011512641.1:p.Glu158Asp, XP_005248931.1:p.Glu158Asp, XP_005248929.1:p.Glu257Asp, XP_047274228.1:p.Glu257Asp, XP_047274229.1:p.Glu257Asp

Select item 147239029711.

rs1472390297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44286027 (GRCh38)
6:44253764 (GRCh37)
Canonical SPDI:: NC_000006.12:44286026:G:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44286027G>A, NC_000006.11:g.44253764G>A, NM_182539.4:c.783C>T, NM_182539.3:c.783C>T, XM_006715009.4:c.486C>T, XM_006715009.3:c.486C>T, XM_006715009.2:c.486C>T, XM_006715009.1:c.486C>T, XM_011514338.3:c.783C>T, XM_011514338.2:c.783C>T, XM_011514338.1:c.783C>T, XM_005248873.3:c.783C>T, XM_005248873.2:c.783C>T, XM_005248873.1:c.783C>T, XM_011514339.3:c.486C>T, XM_011514339.2:c.486C>T, XM_011514339.1:c.486C>T, XM_005248874.3:c.486C>T, XM_005248874.2:c.486C>T, XM_005248874.1:c.486C>T, XM_005248872.2:c.783C>T, XM_005248872.1:c.783C>T, XM_047418272.1:c.783C>T, XM_047418273.1:c.783C>T

Select item 146772210812.

rs1467722108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44280315 (GRCh38)
6:44248052 (GRCh37)
Canonical SPDI:: NC_000006.12:44280314:C:T
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.44280315C>T, NC_000006.11:g.44248052C>T, NM_182539.4:c.1372G>A, NM_182539.3:c.1372G>A, XM_006715009.4:c.1075G>A, XM_006715009.3:c.1075G>A, XM_006715009.2:c.1075G>A, XM_006715009.1:c.1075G>A, XM_011514338.3:c.1372G>A, XM_011514338.2:c.1372G>A, XM_011514338.1:c.1372G>A, XM_005248873.3:c.1111G>A, XM_005248873.2:c.1111G>A, XM_005248873.1:c.1111G>A, XM_011514339.3:c.1075G>A, XM_011514339.2:c.1075G>A, XM_011514339.1:c.1075G>A, XM_005248874.3:c.1075G>A, XM_005248874.2:c.1075G>A, XM_005248874.1:c.1075G>A, XM_005248872.2:c.1372G>A, XM_005248872.1:c.1372G>A, XM_047418272.1:c.1372G>A, XM_047418273.1:c.1372G>A, NP_872345.2:p.Val458Met, XP_006715072.1:p.Val359Met, XP_011512640.1:p.Val458Met, XP_005248930.1:p.Val371Met, XP_011512641.1:p.Val359Met, XP_005248931.1:p.Val359Met, XP_005248929.1:p.Val458Met, XP_047274228.1:p.Val458Met, XP_047274229.1:p.Val458Met

Select item 146711393513.

rs1467113935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44282116 (GRCh38)
6:44249853 (GRCh37)
Canonical SPDI:: NC_000006.12:44282115:G:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.44282116G>A, NC_000006.11:g.44249853G>A, NM_182539.4:c.1290C>T, NM_182539.3:c.1290C>T, XM_006715009.4:c.993C>T, XM_006715009.3:c.993C>T, XM_006715009.2:c.993C>T, XM_006715009.1:c.993C>T, XM_011514338.3:c.1290C>T, XM_011514338.2:c.1290C>T, XM_011514338.1:c.1290C>T, XM_011514339.3:c.993C>T, XM_011514339.2:c.993C>T, XM_011514339.1:c.993C>T, XM_005248874.3:c.993C>T, XM_005248874.2:c.993C>T, XM_005248874.1:c.993C>T, XM_005248872.2:c.1290C>T, XM_005248872.1:c.1290C>T, XM_047418272.1:c.1290C>T, XM_047418273.1:c.1290C>T

Select item 146681009314.

rs1466810093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:44286123 (GRCh38)
6:44253860 (GRCh37)
Canonical SPDI:: NC_000006.12:44286122:T:G
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000045/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44286123T>G, NC_000006.11:g.44253860T>G, NM_182539.4:c.687A>C, NM_182539.3:c.687A>C, XM_006715009.4:c.390A>C, XM_006715009.3:c.390A>C, XM_006715009.2:c.390A>C, XM_006715009.1:c.390A>C, XM_011514338.3:c.687A>C, XM_011514338.2:c.687A>C, XM_011514338.1:c.687A>C, XM_005248873.3:c.687A>C, XM_005248873.2:c.687A>C, XM_005248873.1:c.687A>C, XM_011514339.3:c.390A>C, XM_011514339.2:c.390A>C, XM_011514339.1:c.390A>C, XM_005248874.3:c.390A>C, XM_005248874.2:c.390A>C, XM_005248874.1:c.390A>C, XM_005248872.2:c.687A>C, XM_005248872.1:c.687A>C, XM_047418272.1:c.687A>C, XM_047418273.1:c.687A>C, NP_872345.2:p.Gln229His, XP_006715072.1:p.Gln130His, XP_011512640.1:p.Gln229His, XP_005248930.1:p.Gln229His, XP_011512641.1:p.Gln130His, XP_005248931.1:p.Gln130His, XP_005248929.1:p.Gln229His, XP_047274228.1:p.Gln229His, XP_047274229.1:p.Gln229His

Select item 146672695715.

rs1466726957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:44282169 (GRCh38)
6:44249906 (GRCh37)
Canonical SPDI:: NC_000006.12:44282168:C:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44282169C>A, NC_000006.11:g.44249906C>A, NM_182539.4:c.1237G>T, NM_182539.3:c.1237G>T, XM_006715009.4:c.940G>T, XM_006715009.3:c.940G>T, XM_006715009.2:c.940G>T, XM_006715009.1:c.940G>T, XM_011514338.3:c.1237G>T, XM_011514338.2:c.1237G>T, XM_011514338.1:c.1237G>T, XM_011514339.3:c.940G>T, XM_011514339.2:c.940G>T, XM_011514339.1:c.940G>T, XM_005248874.3:c.940G>T, XM_005248874.2:c.940G>T, XM_005248874.1:c.940G>T, XM_005248872.2:c.1237G>T, XM_005248872.1:c.1237G>T, XM_047418272.1:c.1237G>T, XM_047418273.1:c.1237G>T, NP_872345.2:p.Val413Leu, XP_006715072.1:p.Val314Leu, XP_011512640.1:p.Val413Leu, XP_011512641.1:p.Val314Leu, XP_005248931.1:p.Val314Leu, XP_005248929.1:p.Val413Leu, XP_047274228.1:p.Val413Leu, XP_047274229.1:p.Val413Leu

Select item 146322689216.

rs1463226892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44287682 (GRCh38)
6:44255419 (GRCh37)
Canonical SPDI:: NC_000006.12:44287681:C:T
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44287682C>T, NC_000006.11:g.44255419C>T, NM_182539.4:c.144G>A, NM_182539.3:c.144G>A, XM_011514338.3:c.144G>A, XM_011514338.2:c.144G>A, XM_011514338.1:c.144G>A, XM_005248873.3:c.144G>A, XM_005248873.2:c.144G>A, XM_005248873.1:c.144G>A, XM_005248872.2:c.144G>A, XM_005248872.1:c.144G>A, XM_047418272.1:c.144G>A, XM_047418273.1:c.144G>A

Select item 145408248317.

rs1454082483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44287741 (GRCh38)
6:44255478 (GRCh37)
Canonical SPDI:: NC_000006.12:44287740:G:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44287741G>A, NC_000006.11:g.44255478G>A, NM_182539.4:c.85C>T, NM_182539.3:c.85C>T, XM_011514338.3:c.85C>T, XM_011514338.2:c.85C>T, XM_011514338.1:c.85C>T, XM_005248873.3:c.85C>T, XM_005248873.2:c.85C>T, XM_005248873.1:c.85C>T, XM_005248872.2:c.85C>T, XM_005248872.1:c.85C>T, XM_047418272.1:c.85C>T, XM_047418273.1:c.85C>T, NP_872345.2:p.His29Tyr, XP_011512640.1:p.His29Tyr, XP_005248930.1:p.His29Tyr, XP_005248929.1:p.His29Tyr, XP_047274228.1:p.His29Tyr, XP_047274229.1:p.His29Tyr

Select item 145294013818.

rs1452940138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44282191 (GRCh38)
6:44249928 (GRCh37)
Canonical SPDI:: NC_000006.12:44282190:G:A
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44282191G>A, NC_000006.11:g.44249928G>A, NM_182539.4:c.1215C>T, NM_182539.3:c.1215C>T, XM_006715009.4:c.918C>T, XM_006715009.3:c.918C>T, XM_006715009.2:c.918C>T, XM_006715009.1:c.918C>T, XM_011514338.3:c.1215C>T, XM_011514338.2:c.1215C>T, XM_011514338.1:c.1215C>T, XM_011514339.3:c.918C>T, XM_011514339.2:c.918C>T, XM_011514339.1:c.918C>T, XM_005248874.3:c.918C>T, XM_005248874.2:c.918C>T, XM_005248874.1:c.918C>T, XM_005248872.2:c.1215C>T, XM_005248872.1:c.1215C>T, XM_047418272.1:c.1215C>T, XM_047418273.1:c.1215C>T

Select item 145267004019.

rs1452670040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:44282315 (GRCh38)
6:44250052 (GRCh37)
Canonical SPDI:: NC_000006.12:44282314:A:G
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44282315A>G, NC_000006.11:g.44250052A>G, NM_182539.4:c.1091T>C, NM_182539.3:c.1091T>C, XM_006715009.4:c.794T>C, XM_006715009.3:c.794T>C, XM_006715009.2:c.794T>C, XM_006715009.1:c.794T>C, XM_011514338.3:c.1091T>C, XM_011514338.2:c.1091T>C, XM_011514338.1:c.1091T>C, XM_011514339.3:c.794T>C, XM_011514339.2:c.794T>C, XM_011514339.1:c.794T>C, XM_005248874.3:c.794T>C, XM_005248874.2:c.794T>C, XM_005248874.1:c.794T>C, XM_005248872.2:c.1091T>C, XM_005248872.1:c.1091T>C, XM_047418272.1:c.1091T>C, XM_047418273.1:c.1091T>C, NP_872345.2:p.Leu364Pro, XP_006715072.1:p.Leu265Pro, XP_011512640.1:p.Leu364Pro, XP_011512641.1:p.Leu265Pro, XP_005248931.1:p.Leu265Pro, XP_005248929.1:p.Leu364Pro, XP_047274228.1:p.Leu364Pro, XP_047274229.1:p.Leu364Pro

Select item 144728999920.

rs1447289999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:44280370 (GRCh38)
6:44248107 (GRCh37)
Canonical SPDI:: NC_000006.12:44280369:C:G,NC_000006.12:44280369:C:T
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.44280370C>G, NC_000006.12:g.44280370C>T, NC_000006.11:g.44248107C>G, NC_000006.11:g.44248107C>T, NM_182539.4:c.1317G>C, NM_182539.4:c.1317G>A, NM_182539.3:c.1317G>C, NM_182539.3:c.1317G>A, XM_006715009.4:c.1020G>C, XM_006715009.4:c.1020G>A, XM_006715009.3:c.1020G>C, XM_006715009.3:c.1020G>A, XM_006715009.2:c.1020G>C, XM_006715009.2:c.1020G>A, XM_006715009.1:c.1020G>C, XM_006715009.1:c.1020G>A, XM_011514338.3:c.1317G>C, XM_011514338.3:c.1317G>A, XM_011514338.2:c.1317G>C, XM_011514338.2:c.1317G>A, XM_011514338.1:c.1317G>C, XM_011514338.1:c.1317G>A, XM_005248873.3:c.1056G>C, XM_005248873.3:c.1056G>A, XM_005248873.2:c.1056G>C, XM_005248873.2:c.1056G>A, XM_005248873.1:c.1056G>C, XM_005248873.1:c.1056G>A, XM_011514339.3:c.1020G>C, XM_011514339.3:c.1020G>A, XM_011514339.2:c.1020G>C, XM_011514339.2:c.1020G>A, XM_011514339.1:c.1020G>C, XM_011514339.1:c.1020G>A, XM_005248874.3:c.1020G>C, XM_005248874.3:c.1020G>A, XM_005248874.2:c.1020G>C, XM_005248874.2:c.1020G>A, XM_005248874.1:c.1020G>C, XM_005248874.1:c.1020G>A, XM_005248872.2:c.1317G>C, XM_005248872.2:c.1317G>A, XM_005248872.1:c.1317G>C, XM_005248872.1:c.1317G>A, XM_047418272.1:c.1317G>C, XM_047418272.1:c.1317G>A, XM_047418273.1:c.1317G>C, XM_047418273.1:c.1317G>A

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