SNP Links for Protein (Select 4505947) - SNP

Links from Protein

Items: 1 to 20 of 132

<< First< Prev

Page of 7

Next >Last >>

Select item 14855019511.

rs1485501951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62761868 (GRCh38)
11:62529340 (GRCh37)
Canonical SPDI:: NC_000011.10:62761867:A:G
Gene:: POLR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62761868A>G, NC_000011.9:g.62529340A>G, NM_002696.3:c.86A>G, NM_002696.2:c.86A>G, NP_002687.1:p.Lys29Arg

Select item 14633668292.

rs1463366829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62765386 (GRCh38)
11:62532858 (GRCh37)
Canonical SPDI:: NC_000011.10:62765385:G:A
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.62765386G>A, NC_000011.9:g.62532858G>A, NM_002696.3:c.380G>A, NM_002696.2:c.380G>A, NP_002687.1:p.Cys127Tyr

Select item 14492326483.

rs1449232648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62763013 (GRCh38)
11:62530485 (GRCh37)
Canonical SPDI:: NC_000011.10:62763012:C:T
Gene:: POLR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62763013C>T, NC_000011.9:g.62530485C>T, NM_002696.3:c.269C>T, NM_002696.2:c.269C>T, NP_002687.1:p.Thr90Ile

Select item 14449678264.

rs1444967826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62761888 (GRCh38)
11:62529360 (GRCh37)
Canonical SPDI:: NC_000011.10:62761887:G:A
Gene:: POLR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62761888G>A, NC_000011.9:g.62529360G>A, NM_002696.3:c.106G>A, NM_002696.2:c.106G>A, NP_002687.1:p.Gly36Arg

Select item 14410641705.

rs1441064170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62761902 (GRCh38)
11:62529374 (GRCh37)
Canonical SPDI:: NC_000011.10:62761901:G:A
Gene:: POLR2G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.62761902G>A, NC_000011.9:g.62529374G>A, NM_002696.3:c.120G>A, NM_002696.2:c.120G>A

Select item 14408063276.

rs1440806327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62765190 (GRCh38)
11:62532662 (GRCh37)
Canonical SPDI:: NC_000011.10:62765189:C:T
Gene:: POLR2G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62765190C>T, NC_000011.9:g.62532662C>T, NM_002696.3:c.291C>T, NM_002696.2:c.291C>T

Select item 14405508387.

rs1440550838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:62765396 (GRCh38)
11:62532868 (GRCh37)
Canonical SPDI:: NC_000011.10:62765395:A:G,NC_000011.10:62765395:A:T
Gene:: POLR2G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62765396A>G, NC_000011.10:g.62765396A>T, NC_000011.9:g.62532868A>G, NC_000011.9:g.62532868A>T, NM_002696.3:c.390A>G, NM_002696.3:c.390A>T, NM_002696.2:c.390A>G, NM_002696.2:c.390A>T

Select item 14240585598.

rs1424058559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62762948 (GRCh38)
11:62530420 (GRCh37)
Canonical SPDI:: NC_000011.10:62762947:T:C
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62762948T>C, NC_000011.9:g.62530420T>C, NM_002696.3:c.204T>C, NM_002696.2:c.204T>C

Select item 14209438789.

rs1420943878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62761811 (GRCh38)
11:62529283 (GRCh37)
Canonical SPDI:: NC_000011.10:62761810:A:G
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000063/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.62761811A>G, NC_000011.9:g.62529283A>G, NM_002696.3:c.29A>G, NM_002696.2:c.29A>G, NP_002687.1:p.Glu10Gly

Select item 141502740710.

rs1415027407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62765362 (GRCh38)
11:62532834 (GRCh37)
Canonical SPDI:: NC_000011.10:62765361:T:A
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.62765362T>A, NC_000011.9:g.62532834T>A, NM_002696.3:c.356T>A, NM_002696.2:c.356T>A, NP_002687.1:p.Phe119Tyr

Select item 138629657411.

rs1386296574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:62761823 (GRCh38)
11:62529295 (GRCh37)
Canonical SPDI:: NC_000011.10:62761822:A:C,NC_000011.10:62761822:A:G,NC_000011.10:62761822:A:T
Gene:: POLR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62761823A>C, NC_000011.10:g.62761823A>G, NC_000011.10:g.62761823A>T, NC_000011.9:g.62529295A>C, NC_000011.9:g.62529295A>G, NC_000011.9:g.62529295A>T, NM_002696.3:c.41A>C, NM_002696.3:c.41A>G, NM_002696.3:c.41A>T, NM_002696.2:c.41A>C, NM_002696.2:c.41A>G, NM_002696.2:c.41A>T, NP_002687.1:p.His14Pro, NP_002687.1:p.His14Arg, NP_002687.1:p.His14Leu

Select item 138245862712.

rs1382458627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62761830 (GRCh38)
11:62529302 (GRCh37)
Canonical SPDI:: NC_000011.10:62761829:C:G
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_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_000011.10:g.62761830C>G, NC_000011.9:g.62529302C>G, NM_002696.3:c.48C>G, NM_002696.2:c.48C>G

Select item 137947076913.

rs1379470769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62762989 (GRCh38)
11:62530461 (GRCh37)
Canonical SPDI:: NC_000011.10:62762988:G:C
Gene:: POLR2G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62762989G>C, NC_000011.9:g.62530461G>C, NM_002696.3:c.245G>C, NM_002696.2:c.245G>C, NP_002687.1:p.Gly82Ala

Select item 136549356014.

rs1365493560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62765370 (GRCh38)
11:62532842 (GRCh37)
Canonical SPDI:: NC_000011.10:62765369:A:G
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62765370A>G, NC_000011.9:g.62532842A>G, NM_002696.3:c.364A>G, NM_002696.2:c.364A>G, NP_002687.1:p.Asn122Asp

Select item 135899675215.

rs1358996752 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:62761896 (GRCh38)
11:62529368 (GRCh37)
Canonical SPDI:: NC_000011.10:62761895:C:
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.62761896del, NC_000011.9:g.62529368del, NM_002696.3:c.114del, NM_002696.2:c.114del, NP_002687.1:p.Thr37_Cys38insTer

Select item 135820060616.

rs1358200606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62765228 (GRCh38)
11:62532700 (GRCh37)
Canonical SPDI:: NC_000011.10:62765227:G:A
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.62765228G>A, NC_000011.9:g.62532700G>A, NM_002696.3:c.329G>A, NM_002696.2:c.329G>A, NP_002687.1:p.Arg110Gln

Select item 135501217817.

rs1355012178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:62765404 (GRCh38)
11:62532876 (GRCh37)
Canonical SPDI:: NC_000011.10:62765403:A:T
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62765404A>T, NC_000011.9:g.62532876A>T, NM_002696.3:c.398A>T, NM_002696.2:c.398A>T, NP_002687.1:p.Glu133Val

Select item 134981503218.

rs1349815032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62765712 (GRCh38)
11:62533184 (GRCh37)
Canonical SPDI:: NC_000011.10:62765711:C:G
Gene:: POLR2G (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_000011.10:g.62765712C>G, NC_000011.9:g.62533184C>G, NM_002696.3:c.459C>G, NM_002696.2:c.459C>G, NP_002687.1:p.Asp153Glu

Select item 134596367619.

rs1345963676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62766252 (GRCh38)
11:62533724 (GRCh37)
Canonical SPDI:: NC_000011.10:62766251:G:A
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62766252G>A, NC_000011.9:g.62533724G>A, NM_002696.3:c.481G>A, NM_002696.2:c.481G>A, NP_002687.1:p.Gly161Ser

Select item 134529588620.

rs1345295886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62761860 (GRCh38)
11:62529332 (GRCh37)
Canonical SPDI:: NC_000011.10:62761859:G:A
Gene:: POLR2G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000011.10:g.62761860G>A, NC_000011.9:g.62529332G>A, NM_002696.3:c.78G>A, NM_002696.2:c.78G>A

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 132

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity