SNP Links for Protein (Select 530381513) - SNP

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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 14842819172.

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 14841029873.

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 14787892374.

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 14785818085.

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 14763582796.

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 14724575267.

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 14723902978.

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 14677221089.

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 146711393510.

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 146681009311.

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 146672695712.

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 145294013813.

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 145267004014.

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 144728999915.

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

Select item 144566149916.

rs1445661499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:44286465 (GRCh38)
6:44254202 (GRCh37)
Canonical SPDI:: NC_000006.12:44286464:G:T
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:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44286465G>T, NC_000006.11:g.44254202G>T, NM_182539.4:c.345C>A, NM_182539.3:c.345C>A, XM_006715009.4:c.48C>A, XM_006715009.3:c.48C>A, XM_006715009.2:c.48C>A, XM_006715009.1:c.48C>A, XM_011514338.3:c.345C>A, XM_011514338.2:c.345C>A, XM_011514338.1:c.345C>A, XM_005248873.3:c.345C>A, XM_005248873.2:c.345C>A, XM_005248873.1:c.345C>A, XM_011514339.3:c.48C>A, XM_011514339.2:c.48C>A, XM_011514339.1:c.48C>A, XM_005248874.3:c.48C>A, XM_005248874.2:c.48C>A, XM_005248874.1:c.48C>A, XM_005248872.2:c.345C>A, XM_005248872.1:c.345C>A, XM_047418272.1:c.345C>A, XM_047418273.1:c.345C>A, NP_872345.2:p.Asp115Glu, XP_006715072.1:p.Asp16Glu, XP_011512640.1:p.Asp115Glu, XP_005248930.1:p.Asp115Glu, XP_011512641.1:p.Asp16Glu, XP_005248931.1:p.Asp16Glu, XP_005248929.1:p.Asp115Glu, XP_047274228.1:p.Asp115Glu, XP_047274229.1:p.Asp115Glu

Select item 144373311017.

rs1443733110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:44280275 (GRCh38)
6:44248012 (GRCh37)
Canonical SPDI:: NC_000006.12:44280274:T:C
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:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44280275T>C, NC_000006.11:g.44248012T>C, NM_182539.4:c.1412A>G, NM_182539.3:c.1412A>G, XM_006715009.4:c.1115A>G, XM_006715009.3:c.1115A>G, XM_006715009.2:c.1115A>G, XM_006715009.1:c.1115A>G, XM_011514338.3:c.1412A>G, XM_011514338.2:c.1412A>G, XM_011514338.1:c.1412A>G, XM_005248873.3:c.1151A>G, XM_005248873.2:c.1151A>G, XM_005248873.1:c.1151A>G, XM_011514339.3:c.1115A>G, XM_011514339.2:c.1115A>G, XM_011514339.1:c.1115A>G, XM_005248874.3:c.1115A>G, XM_005248874.2:c.1115A>G, XM_005248874.1:c.1115A>G, XM_005248872.2:c.1412A>G, XM_005248872.1:c.1412A>G, XM_047418272.1:c.1412A>G, XM_047418273.1:c.1412A>G, NP_872345.2:p.Tyr471Cys, XP_006715072.1:p.Tyr372Cys, XP_011512640.1:p.Tyr471Cys, XP_005248930.1:p.Tyr384Cys, XP_011512641.1:p.Tyr372Cys, XP_005248931.1:p.Tyr372Cys, XP_005248929.1:p.Tyr471Cys, XP_047274228.1:p.Tyr471Cys, XP_047274229.1:p.Tyr471Cys

Select item 144244948318.

rs1442449483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44282422 (GRCh38)
6:44250159 (GRCh37)
Canonical SPDI:: NC_000006.12:44282421:G:A
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:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000283/5 (TOMMO)
HGVS:: NC_000006.12:g.44282422G>A, NC_000006.11:g.44250159G>A, NM_182539.4:c.984C>T, NM_182539.3:c.984C>T, XM_006715009.4:c.687C>T, XM_006715009.3:c.687C>T, XM_006715009.2:c.687C>T, XM_006715009.1:c.687C>T, XM_011514338.3:c.984C>T, XM_011514338.2:c.984C>T, XM_011514338.1:c.984C>T, XM_005248873.3:c.984C>T, XM_005248873.2:c.984C>T, XM_005248873.1:c.984C>T, XM_011514339.3:c.687C>T, XM_011514339.2:c.687C>T, XM_011514339.1:c.687C>T, XM_005248874.3:c.687C>T, XM_005248874.2:c.687C>T, XM_005248874.1:c.687C>T, XM_005248872.2:c.984C>T, XM_005248872.1:c.984C>T, XM_047418272.1:c.984C>T, XM_047418273.1:c.984C>T

Select item 144151581019.

rs1441515810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:44282451 (GRCh38)
6:44250188 (GRCh37)
Canonical SPDI:: NC_000006.12:44282450:T:G
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_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.44282451T>G, NC_000006.11:g.44250188T>G, NM_182539.4:c.955A>C, NM_182539.3:c.955A>C, XM_006715009.4:c.658A>C, XM_006715009.3:c.658A>C, XM_006715009.2:c.658A>C, XM_006715009.1:c.658A>C, XM_011514338.3:c.955A>C, XM_011514338.2:c.955A>C, XM_011514338.1:c.955A>C, XM_005248873.3:c.955A>C, XM_005248873.2:c.955A>C, XM_005248873.1:c.955A>C, XM_011514339.3:c.658A>C, XM_011514339.2:c.658A>C, XM_011514339.1:c.658A>C, XM_005248874.3:c.658A>C, XM_005248874.2:c.658A>C, XM_005248874.1:c.658A>C, XM_005248872.2:c.955A>C, XM_005248872.1:c.955A>C, XM_047418272.1:c.955A>C, XM_047418273.1:c.955A>C, NP_872345.2:p.Ile319Leu, XP_006715072.1:p.Ile220Leu, XP_011512640.1:p.Ile319Leu, XP_005248930.1:p.Ile319Leu, XP_011512641.1:p.Ile220Leu, XP_005248931.1:p.Ile220Leu, XP_005248929.1:p.Ile319Leu, XP_047274228.1:p.Ile319Leu, XP_047274229.1:p.Ile319Leu

Select item 144059905720.

rs1440599057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44286013 (GRCh38)
6:44253750 (GRCh37)
Canonical SPDI:: NC_000006.12:44286012:C:T
Gene:: POLR1C (Varview), TCTE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.44286013C>T, NC_000006.11:g.44253750C>T, NM_182539.4:c.797G>A, NM_182539.3:c.797G>A, XM_006715009.4:c.500G>A, XM_006715009.3:c.500G>A, XM_006715009.2:c.500G>A, XM_006715009.1:c.500G>A, XM_011514338.3:c.797G>A, XM_011514338.2:c.797G>A, XM_011514338.1:c.797G>A, XM_005248873.3:c.797G>A, XM_005248873.2:c.797G>A, XM_005248873.1:c.797G>A, XM_011514339.3:c.500G>A, XM_011514339.2:c.500G>A, XM_011514339.1:c.500G>A, XM_005248874.3:c.500G>A, XM_005248874.2:c.500G>A, XM_005248874.1:c.500G>A, XM_005248872.2:c.797G>A, XM_005248872.1:c.797G>A, XM_047418272.1:c.797G>A, XM_047418273.1:c.797G>A, NP_872345.2:p.Arg266His, XP_006715072.1:p.Arg167His, XP_011512640.1:p.Arg266His, XP_005248930.1:p.Arg266His, XP_011512641.1:p.Arg167His, XP_005248931.1:p.Arg167His, XP_005248929.1:p.Arg266His, XP_047274228.1:p.Arg266His, XP_047274229.1:p.Arg266His

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