SNP Links for Protein (Select 634743304) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43583136 (GRCh38)
6:43550873 (GRCh37)
Canonical SPDI:: NC_000006.12:43583135:C:A
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00004/10 (GnomAD_exomes)
A=0.000042/11 (TOPMED)
A=0.000079/11 (GnomAD)
HGVS:: NC_000006.12:g.43583136C>A, NC_000006.11:g.43550873C>A, NG_009252.1:g.11996C>A, NM_006502.3:c.267C>A, NM_006502.2:c.267C>A, NM_001291970.2:c.267C>A, NM_001291970.1:c.267C>A, NM_001291969.2:c.113C>A, NM_001291969.1:c.113C>A, NP_001278898.1:p.Ser38Ter

Select item 14826246667.

rs1482624666 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:43605318 (GRCh38)
6:43573055 (GRCh37)
Canonical SPDI:: NC_000006.12:43605317:A:
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43605318del, NC_000006.11:g.43573055del, NG_009252.1:g.34178del, NM_006502.3:c.1073del, NM_006502.2:c.1073del, NM_001291970.2:c.1073del, NM_001291970.1:c.1073del, NM_001291969.2:c.701del, NM_001291969.1:c.701del, XM_047418900.1:c.617del, NP_006493.1:p.Asp358fs, NP_001278899.1:p.Asp358fs, NP_001278898.1:p.Asp234fs, XP_047274856.1:p.Asp206fs

Select item 14808387008.

rs1480838700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43614427 (GRCh38)
6:43582164 (GRCh37)
Canonical SPDI:: NC_000006.12:43614426:C:T
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43614427C>T, NC_000006.11:g.43582164C>T, NG_009252.1:g.43287C>T, NM_006502.3:c.2012C>T, NM_006502.2:c.2012C>T, NM_001291970.2:c.*696C>T, NM_001291970.1:c.*696C>T, NM_001291969.2:c.1640C>T, NM_001291969.1:c.1640C>T, XM_047418900.1:c.1556C>T, NP_006493.1:p.Pro671Leu, NP_001278898.1:p.Pro547Leu, XP_047274856.1:p.Pro519Leu

Select item 14806613359.

rs1480661335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:43614066 (GRCh38)
6:43581804 (GRCh37)
Canonical SPDI:: NC_000006.12:43614066:CCCCCC:CCCCCCC
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43614072dup, NC_000006.11:g.43581809dup, NG_009252.1:g.42932dup, NM_006502.3:c.1657dup, NM_006502.2:c.1657dup, NM_001291970.2:c.*341dup, NM_001291970.1:c.*341dup, NM_001291969.2:c.1285dup, NM_001291969.1:c.1285dup, XM_047418900.1:c.1201dup, NP_006493.1:p.Gln553fs, NP_001278898.1:p.Gln429fs, XP_047274856.1:p.Gln401fs

Select item 147999887110.

rs1479998871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43614533 (GRCh38)
6:43582270 (GRCh37)
Canonical SPDI:: NC_000006.12:43614532:A:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.43614533A>G, NC_000006.11:g.43582270A>G, NG_009252.1:g.43393A>G, NM_006502.3:c.2118A>G, NM_006502.2:c.2118A>G, NM_001291970.2:c.*802A>G, NM_001291970.1:c.*802A>G, NM_001291969.2:c.1746A>G, NM_001291969.1:c.1746A>G, XM_047418900.1:c.1662A>G

Select item 147852487811.

rs1478524878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43610648 (GRCh38)
6:43578385 (GRCh37)
Canonical SPDI:: NC_000006.12:43610647:A:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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.43610648A>G, NC_000006.11:g.43578385A>G, NG_009252.1:g.39508A>G, NM_006502.3:c.1169A>G, NM_006502.2:c.1169A>G, NM_001291970.2:c.1169A>G, NM_001291970.1:c.1169A>G, NM_001291969.2:c.797A>G, NM_001291969.1:c.797A>G, XM_047418900.1:c.713A>G, NP_006493.1:p.Tyr390Cys, NP_001278899.1:p.Tyr390Cys, NP_001278898.1:p.Tyr266Cys, XP_047274856.1:p.Tyr238Cys

Select item 147628500512.

rs1476285005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43614082 (GRCh38)
6:43581819 (GRCh37)
Canonical SPDI:: NC_000006.12:43614081:C:T
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43614082C>T, NC_000006.11:g.43581819C>T, NG_009252.1:g.42942C>T, NM_006502.3:c.1667C>T, NM_006502.2:c.1667C>T, NM_001291970.2:c.*351C>T, NM_001291970.1:c.*351C>T, NM_001291969.2:c.1295C>T, NM_001291969.1:c.1295C>T, XM_047418900.1:c.1211C>T, NP_006493.1:p.Pro556Leu, NP_001278898.1:p.Pro432Leu, XP_047274856.1:p.Pro404Leu

Select item 147475160013.

rs1474751600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43614009 (GRCh38)
6:43581746 (GRCh37)
Canonical SPDI:: NC_000006.12:43614008:T:C
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43614009T>C, NC_000006.11:g.43581746T>C, NG_009252.1:g.42869T>C, NM_006502.3:c.1594T>C, NM_006502.2:c.1594T>C, NM_001291970.2:c.*278T>C, NM_001291970.1:c.*278T>C, NM_001291969.2:c.1222T>C, NM_001291969.1:c.1222T>C, XM_047418900.1:c.1138T>C, NP_006493.1:p.Phe532Leu, NP_001278898.1:p.Phe408Leu, XP_047274856.1:p.Phe380Leu

Select item 147236873814.

rs1472368738 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 6:43603893 (GRCh38)
6:43571631 (GRCh37)
Canonical SPDI:: NC_000006.12:43603893::CTA
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: inframe_indel,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTA=0./0 (ALFA)
CTA=0.000004/1 (TOPMED)
CTA=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43603893_43603894insCTA, NC_000006.11:g.43571630_43571631insCTA, NG_009252.1:g.32753_32754insCTA, NM_006502.3:c.766_767insCTA, NM_006502.2:c.766_767insCTA, NM_001291970.2:c.766_767insCTA, NM_001291970.1:c.766_767insCTA, NM_001291969.2:c.394_395insCTA, NM_001291969.1:c.394_395insCTA, XM_047418900.1:c.310_311insCTA, NP_006493.1:p.Arg256delinsProSer, NP_001278899.1:p.Arg256delinsProSer, NP_001278898.1:p.Arg132delinsProSer, XP_047274856.1:p.Arg104delinsProSer

Select item 146706318715.

rs1467063187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:43614055 (GRCh38)
6:43581792 (GRCh37)
Canonical SPDI:: NC_000006.12:43614054:C:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_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.43614055C>G, NC_000006.11:g.43581792C>G, NG_009252.1:g.42915C>G, NM_006502.3:c.1640C>G, NM_006502.2:c.1640C>G, NM_001291970.2:c.*324C>G, NM_001291970.1:c.*324C>G, NM_001291969.2:c.1268C>G, NM_001291969.1:c.1268C>G, XM_047418900.1:c.1184C>G, NP_006493.1:p.Ser547Cys, NP_001278898.1:p.Ser423Cys, XP_047274856.1:p.Ser395Cys

Select item 146256444316.

rs1462564443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:43605272 (GRCh38)
6:43573009 (GRCh37)
Canonical SPDI:: NC_000006.12:43605271:C:A,NC_000006.12:43605271:C:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43605272C>A, NC_000006.12:g.43605272C>G, NC_000006.11:g.43573009C>A, NC_000006.11:g.43573009C>G, NG_009252.1:g.34132C>A, NG_009252.1:g.34132C>G, NM_006502.3:c.1027C>A, NM_006502.3:c.1027C>G, NM_006502.2:c.1027C>A, NM_006502.2:c.1027C>G, NM_001291970.2:c.1027C>A, NM_001291970.2:c.1027C>G, NM_001291970.1:c.1027C>A, NM_001291970.1:c.1027C>G, NM_001291969.2:c.655C>A, NM_001291969.2:c.655C>G, NM_001291969.1:c.655C>A, NM_001291969.1:c.655C>G, XM_047418900.1:c.571C>A, XM_047418900.1:c.571C>G, NP_006493.1:p.Gln343Lys, NP_006493.1:p.Gln343Glu, NP_001278899.1:p.Gln343Lys, NP_001278899.1:p.Gln343Glu, NP_001278898.1:p.Gln219Lys, NP_001278898.1:p.Gln219Glu, XP_047274856.1:p.Gln191Lys, XP_047274856.1:p.Gln191Glu

Select item 146159951417.

rs1461599514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43610695 (GRCh38)
6:43578432 (GRCh37)
Canonical SPDI:: NC_000006.12:43610694:T:C
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43610695T>C, NC_000006.11:g.43578432T>C, NG_009252.1:g.39555T>C, NM_006502.3:c.1216T>C, NM_006502.2:c.1216T>C, NM_001291970.2:c.1216T>C, NM_001291970.1:c.1216T>C, NM_001291969.2:c.844T>C, NM_001291969.1:c.844T>C, XM_047418900.1:c.760T>C, NP_006493.1:p.Cys406Arg, NP_001278899.1:p.Cys406Arg, NP_001278898.1:p.Cys282Arg, XP_047274856.1:p.Cys254Arg

Select item 146151972218.

rs1461519722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43614408 (GRCh38)
6:43582145 (GRCh37)
Canonical SPDI:: NC_000006.12:43614407:C:T
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: stop_gained,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43614408C>T, NC_000006.11:g.43582145C>T, NG_009252.1:g.43268C>T, NM_006502.3:c.1993C>T, NM_006502.2:c.1993C>T, NM_001291970.2:c.*677C>T, NM_001291970.1:c.*677C>T, NM_001291969.2:c.1621C>T, NM_001291969.1:c.1621C>T, XM_047418900.1:c.1537C>T, NP_006493.1:p.Gln665Ter, NP_001278898.1:p.Gln541Ter, XP_047274856.1:p.Gln513Ter

Select item 145908959519.

rs1459089595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:43614178 (GRCh38)
6:43581915 (GRCh37)
Canonical SPDI:: NC_000006.12:43614177:C:A,NC_000006.12:43614177:C:G,NC_000006.12:43614177:C:T
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43614178C>A, NC_000006.12:g.43614178C>G, NC_000006.12:g.43614178C>T, NC_000006.11:g.43581915C>A, NC_000006.11:g.43581915C>G, NC_000006.11:g.43581915C>T, NG_009252.1:g.43038C>A, NG_009252.1:g.43038C>G, NG_009252.1:g.43038C>T, NM_006502.3:c.1763C>A, NM_006502.3:c.1763C>G, NM_006502.3:c.1763C>T, NM_006502.2:c.1763C>A, NM_006502.2:c.1763C>G, NM_006502.2:c.1763C>T, NM_001291970.2:c.*447C>A, NM_001291970.2:c.*447C>G, NM_001291970.2:c.*447C>T, NM_001291970.1:c.*447C>A, NM_001291970.1:c.*447C>G, NM_001291970.1:c.*447C>T, NM_001291969.2:c.1391C>A, NM_001291969.2:c.1391C>G, NM_001291969.2:c.1391C>T, NM_001291969.1:c.1391C>A, NM_001291969.1:c.1391C>G, NM_001291969.1:c.1391C>T, XM_047418900.1:c.1307C>A, XM_047418900.1:c.1307C>G, XM_047418900.1:c.1307C>T, NP_006493.1:p.Ser588Tyr, NP_006493.1:p.Ser588Cys, NP_006493.1:p.Ser588Phe, NP_001278898.1:p.Ser464Tyr, NP_001278898.1:p.Ser464Cys, NP_001278898.1:p.Ser464Phe, XP_047274856.1:p.Ser436Tyr, XP_047274856.1:p.Ser436Cys, XP_047274856.1:p.Ser436Phe

Select item 145788073020.

rs1457880730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:43597795 (GRCh38)
6:43565532 (GRCh37)
Canonical SPDI:: NC_000006.12:43597794:T:C,NC_000006.12:43597794:T:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
G=0.001092/2 (Korea1K)
HGVS:: NC_000006.12:g.43597795T>C, NC_000006.12:g.43597795T>G, NC_000006.11:g.43565532T>C, NC_000006.11:g.43565532T>G, NG_009252.1:g.26655T>C, NG_009252.1:g.26655T>G, NM_006502.3:c.590T>C, NM_006502.3:c.590T>G, NM_006502.2:c.590T>C, NM_006502.2:c.590T>G, NM_001291970.2:c.590T>C, NM_001291970.2:c.590T>G, NM_001291970.1:c.590T>C, NM_001291970.1:c.590T>G, NM_001291969.2:c.218T>C, NM_001291969.2:c.218T>G, NM_001291969.1:c.218T>C, NM_001291969.1:c.218T>G, XM_047418900.1:c.134T>C, XM_047418900.1:c.134T>G, NP_006493.1:p.Val197Ala, NP_006493.1:p.Val197Gly, NP_001278899.1:p.Val197Ala, NP_001278899.1:p.Val197Gly, NP_001278898.1:p.Val73Ala, NP_001278898.1:p.Val73Gly, XP_047274856.1:p.Val45Ala, XP_047274856.1:p.Val45Gly

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