SNP Links for Protein (Select 384475535) - SNP

Select item 14900304291.

rs1490030429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22315121 (GRCh38)
16:22326442 (GRCh37)
Canonical SPDI:: NC_000016.10:22315120:C:T
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.22315121C>T, NC_000016.9:g.22326442C>T, NW_017852933.1:g.789908G>A, XM_011545893.4:c.555C>T, XM_011545893.3:c.555C>T, XM_011545893.2:c.555C>T, XM_011545893.1:c.555C>T, NM_018119.4:c.555C>T, NM_018119.3:c.555C>T, XM_011545892.3:c.552C>T, XM_011545892.2:c.552C>T, XM_011545892.1:c.552C>T, NR_047581.2:n.672C>T, NR_047581.1:n.706C>T, NM_001258033.2:c.555C>T, NM_001258033.1:c.555C>T, NM_001258035.2:c.447C>T, NM_001258035.1:c.447C>T, NM_001258034.2:c.447C>T, NM_001258034.1:c.447C>T, NM_001258036.2:c.555C>T, NM_001258036.1:c.555C>T, XM_047434362.1:c.555C>T

Select item 14878012572.

rs1487801257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22316680 (GRCh38)
16:22328001 (GRCh37)
Canonical SPDI:: NC_000016.10:22316679:C:T
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000016.10:g.22316680C>T, NC_000016.9:g.22328001C>T, NW_017852933.1:g.788349G>A, XM_011545893.4:c.722C>T, XM_011545893.3:c.722C>T, XM_011545893.2:c.722C>T, XM_011545893.1:c.722C>T, NM_018119.4:c.722C>T, NM_018119.3:c.722C>T, XM_011545892.3:c.719C>T, XM_011545892.2:c.719C>T, XM_011545892.1:c.719C>T, NR_047581.2:n.839C>T, NR_047581.1:n.873C>T, NM_001258033.2:c.722C>T, NM_001258033.1:c.722C>T, NM_001258035.2:c.614C>T, NM_001258035.1:c.614C>T, NM_001258034.2:c.614C>T, NM_001258034.1:c.614C>T, NM_001258036.2:c.722C>T, NM_001258036.1:c.722C>T, XM_047434362.1:c.722C>T, XP_011544195.1:p.Ser241Leu, NP_060589.1:p.Ser241Leu, XP_011544194.1:p.Ser240Leu, NP_001244962.1:p.Ser241Leu, NP_001244964.1:p.Ser205Leu, NP_001244963.1:p.Ser205Leu, NP_001244965.1:p.Ser241Leu, XP_047290318.1:p.Ser241Leu

Select item 14874698993.

rs1487469899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22326278 (GRCh38)
16:22337599 (GRCh37)
Canonical SPDI:: NC_000016.10:22326277:T:C
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22326278T>C, NC_000016.9:g.22337599T>C, NW_017852933.1:g.778751A>G, XM_011545893.4:c.1866T>C, XM_011545893.3:c.1866T>C, XM_011545893.2:c.1866T>C, XM_011545893.1:c.1866T>C, NM_018119.4:c.1866T>C, NM_018119.3:c.1866T>C, XM_011545892.3:c.1863T>C, XM_011545892.2:c.1863T>C, XM_011545892.1:c.1863T>C, NR_047581.2:n.1983T>C, NR_047581.1:n.2017T>C, NM_001258033.2:c.1866T>C, NM_001258033.1:c.1866T>C, NM_001258035.2:c.1758T>C, NM_001258035.1:c.1758T>C, NM_001258034.2:c.1758T>C, NM_001258034.1:c.1758T>C, NM_001258036.2:c.1866T>C, NM_001258036.1:c.1866T>C, XM_047434362.1:c.1866T>C

Select item 14873800834.

rs1487380083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22325975 (GRCh38)
16:22337296 (GRCh37)
Canonical SPDI:: NC_000016.10:22325974:T:C
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.22325975T>C, NC_000016.9:g.22337296T>C, NW_017852933.1:g.779054A>G, XM_011545893.4:c.1563T>C, XM_011545893.3:c.1563T>C, XM_011545893.2:c.1563T>C, XM_011545893.1:c.1563T>C, NM_018119.4:c.1563T>C, NM_018119.3:c.1563T>C, XM_011545892.3:c.1560T>C, XM_011545892.2:c.1560T>C, XM_011545892.1:c.1560T>C, NR_047581.2:n.1680T>C, NR_047581.1:n.1714T>C, NM_001258033.2:c.1563T>C, NM_001258033.1:c.1563T>C, NM_001258035.2:c.1455T>C, NM_001258035.1:c.1455T>C, NM_001258034.2:c.1455T>C, NM_001258034.1:c.1455T>C, NM_001258036.2:c.1563T>C, NM_001258036.1:c.1563T>C, XM_047434362.1:c.1563T>C

Select item 14864082785.

rs1486408278 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTG [Show Flanks]
Chromosome:: 16:22328549 (GRCh38)
16:22339871 (GRCh37)
Canonical SPDI:: NC_000016.10:22328549:TGTTTG:TGTTTGTTTG
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: TGTT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22328552_22328555dup, NC_000016.9:g.22339873_22339876dup, NW_017852933.1:g.776476_776479dup, XM_011545893.4:c.*1792_*1795dup, XM_011545893.3:c.*1792_*1795dup, XM_011545893.2:c.*1792_*1795dup, NM_018119.4:c.1909_1912dup, NM_018119.3:c.1909_1912dup, XM_011545892.3:c.1906_1909dup, XM_011545892.2:c.1906_1909dup, XM_011545892.1:c.1906_1909dup, NR_047581.2:n.2026_2029dup, NR_047581.1:n.2060_2063dup, NM_001258033.2:c.1909_1912dup, NM_001258033.1:c.1909_1912dup, NM_001258035.2:c.1801_1804dup, NM_001258035.1:c.1801_1804dup, NM_001258034.2:c.1801_1804dup, NM_001258034.1:c.1801_1804dup, NM_001258036.2:c.1909_1912dup, NM_001258036.1:c.1909_1912dup, XM_047434362.1:c.1909_1912dup, NP_060589.1:p.Ala638fs, XP_011544194.1:p.Ala637fs, NP_001244962.1:p.Ala638fs, NP_001244964.1:p.Ala602fs, NP_001244963.1:p.Ala602fs, NP_001244965.1:p.Ala638fs, XP_047290318.1:p.Ala638fs

Select item 14863782056.

rs1486378205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:22325961 (GRCh38)
16:22337282 (GRCh37)
Canonical SPDI:: NC_000016.10:22325960:G:C
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22325961G>C, NC_000016.9:g.22337282G>C, NW_017852933.1:g.779068C>G, XM_011545893.4:c.1549G>C, XM_011545893.3:c.1549G>C, XM_011545893.2:c.1549G>C, XM_011545893.1:c.1549G>C, NM_018119.4:c.1549G>C, NM_018119.3:c.1549G>C, XM_011545892.3:c.1546G>C, XM_011545892.2:c.1546G>C, XM_011545892.1:c.1546G>C, NR_047581.2:n.1666G>C, NR_047581.1:n.1700G>C, NM_001258033.2:c.1549G>C, NM_001258033.1:c.1549G>C, NM_001258035.2:c.1441G>C, NM_001258035.1:c.1441G>C, NM_001258034.2:c.1441G>C, NM_001258034.1:c.1441G>C, NM_001258036.2:c.1549G>C, NM_001258036.1:c.1549G>C, XM_047434362.1:c.1549G>C, XP_011544195.1:p.Glu517Gln, NP_060589.1:p.Glu517Gln, XP_011544194.1:p.Glu516Gln, NP_001244962.1:p.Glu517Gln, NP_001244964.1:p.Glu481Gln, NP_001244963.1:p.Glu481Gln, NP_001244965.1:p.Glu517Gln, XP_047290318.1:p.Glu517Gln

Select item 14860288117.

rs1486028811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22326016 (GRCh38)
16:22337337 (GRCh37)
Canonical SPDI:: NC_000016.10:22326015:C:T
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22326016C>T, NC_000016.9:g.22337337C>T, NW_017852933.1:g.779013G>A, XM_011545893.4:c.1604C>T, XM_011545893.3:c.1604C>T, XM_011545893.2:c.1604C>T, XM_011545893.1:c.1604C>T, NM_018119.4:c.1604C>T, NM_018119.3:c.1604C>T, XM_011545892.3:c.1601C>T, XM_011545892.2:c.1601C>T, XM_011545892.1:c.1601C>T, NR_047581.2:n.1721C>T, NR_047581.1:n.1755C>T, NM_001258033.2:c.1604C>T, NM_001258033.1:c.1604C>T, NM_001258035.2:c.1496C>T, NM_001258035.1:c.1496C>T, NM_001258034.2:c.1496C>T, NM_001258034.1:c.1496C>T, NM_001258036.2:c.1604C>T, NM_001258036.1:c.1604C>T, XM_047434362.1:c.1604C>T, XP_011544195.1:p.Pro535Leu, NP_060589.1:p.Pro535Leu, XP_011544194.1:p.Pro534Leu, NP_001244962.1:p.Pro535Leu, NP_001244964.1:p.Pro499Leu, NP_001244963.1:p.Pro499Leu, NP_001244965.1:p.Pro535Leu, XP_047290318.1:p.Pro535Leu

Select item 14857340528.

rs1485734052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:22326079 (GRCh38)
16:22337400 (GRCh37)
Canonical SPDI:: NC_000016.10:22326078:C:A
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.22326079C>A, NC_000016.9:g.22337400C>A, NW_017852933.1:g.778950G>T, XM_011545893.4:c.1667C>A, XM_011545893.3:c.1667C>A, XM_011545893.2:c.1667C>A, XM_011545893.1:c.1667C>A, NM_018119.4:c.1667C>A, NM_018119.3:c.1667C>A, XM_011545892.3:c.1664C>A, XM_011545892.2:c.1664C>A, XM_011545892.1:c.1664C>A, NR_047581.2:n.1784C>A, NR_047581.1:n.1818C>A, NM_001258033.2:c.1667C>A, NM_001258033.1:c.1667C>A, NM_001258035.2:c.1559C>A, NM_001258035.1:c.1559C>A, NM_001258034.2:c.1559C>A, NM_001258034.1:c.1559C>A, NM_001258036.2:c.1667C>A, NM_001258036.1:c.1667C>A, XM_047434362.1:c.1667C>A, XP_011544195.1:p.Thr556Asn, NP_060589.1:p.Thr556Asn, XP_011544194.1:p.Thr555Asn, NP_001244962.1:p.Thr556Asn, NP_001244964.1:p.Thr520Asn, NP_001244963.1:p.Thr520Asn, NP_001244965.1:p.Thr556Asn, XP_047290318.1:p.Thr556Asn

Select item 14853978599.

rs1485397859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22326207 (GRCh38)
16:22337528 (GRCh37)
Canonical SPDI:: NC_000016.10:22326206:T:C
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22326207T>C, NC_000016.9:g.22337528T>C, NW_017852933.1:g.778822A>G, XM_011545893.4:c.1795T>C, XM_011545893.3:c.1795T>C, XM_011545893.2:c.1795T>C, XM_011545893.1:c.1795T>C, NM_018119.4:c.1795T>C, NM_018119.3:c.1795T>C, XM_011545892.3:c.1792T>C, XM_011545892.2:c.1792T>C, XM_011545892.1:c.1792T>C, NR_047581.2:n.1912T>C, NR_047581.1:n.1946T>C, NM_001258033.2:c.1795T>C, NM_001258033.1:c.1795T>C, NM_001258035.2:c.1687T>C, NM_001258035.1:c.1687T>C, NM_001258034.2:c.1687T>C, NM_001258034.1:c.1687T>C, NM_001258036.2:c.1795T>C, NM_001258036.1:c.1795T>C, XM_047434362.1:c.1795T>C, XP_011544195.1:p.Phe599Leu, NP_060589.1:p.Phe599Leu, XP_011544194.1:p.Phe598Leu, NP_001244962.1:p.Phe599Leu, NP_001244964.1:p.Phe563Leu, NP_001244963.1:p.Phe563Leu, NP_001244965.1:p.Phe599Leu, XP_047290318.1:p.Phe599Leu

Select item 148476017110.

rs1484760171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22325791 (GRCh38)
16:22337112 (GRCh37)
Canonical SPDI:: NC_000016.10:22325790:G:A
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.22325791G>A, NC_000016.9:g.22337112G>A, NW_017852933.1:g.779238C>T, XM_011545893.4:c.1379G>A, XM_011545893.3:c.1379G>A, XM_011545893.2:c.1379G>A, XM_011545893.1:c.1379G>A, NM_018119.4:c.1379G>A, NM_018119.3:c.1379G>A, XM_011545892.3:c.1376G>A, XM_011545892.2:c.1376G>A, XM_011545892.1:c.1376G>A, NR_047581.2:n.1496G>A, NR_047581.1:n.1530G>A, NM_001258033.2:c.1379G>A, NM_001258033.1:c.1379G>A, NM_001258035.2:c.1271G>A, NM_001258035.1:c.1271G>A, NM_001258034.2:c.1271G>A, NM_001258034.1:c.1271G>A, NM_001258036.2:c.1379G>A, NM_001258036.1:c.1379G>A, XM_047434362.1:c.1379G>A, XP_011544195.1:p.Arg460Gln, NP_060589.1:p.Arg460Gln, XP_011544194.1:p.Arg459Gln, NP_001244962.1:p.Arg460Gln, NP_001244964.1:p.Arg424Gln, NP_001244963.1:p.Arg424Gln, NP_001244965.1:p.Arg460Gln, XP_047290318.1:p.Arg460Gln

Select item 148258218911.

rs1482582189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:22302973 (GRCh38)
16:22314294 (GRCh37)
Canonical SPDI:: NC_000016.10:22302972:C:A
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22302973C>A, NC_000016.9:g.22314294C>A, NW_017852933.1:g.802057G>T, XM_011545893.4:c.5C>A, XM_011545893.3:c.5C>A, XM_011545893.2:c.5C>A, XM_011545893.1:c.5C>A, NM_018119.4:c.5C>A, NM_018119.3:c.5C>A, XM_011545892.3:c.5C>A, XM_011545892.2:c.5C>A, XM_011545892.1:c.5C>A, NR_047581.2:n.172C>A, NR_047581.1:n.206C>A, NM_001258033.2:c.5C>A, NM_001258033.1:c.5C>A, NM_001258034.2:c.5C>A, NM_001258034.1:c.5C>A, NM_001258036.2:c.5C>A, NM_001258036.1:c.5C>A, XM_047434362.1:c.5C>A, XP_011544195.1:p.Ala2Asp, NP_060589.1:p.Ala2Asp, XP_011544194.1:p.Ala2Asp, NP_001244962.1:p.Ala2Asp, NP_001244963.1:p.Ala2Asp, NP_001244965.1:p.Ala2Asp, XP_047290318.1:p.Ala2Asp

Select item 148098603012.

rs1480986030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22326131 (GRCh38)
16:22337452 (GRCh37)
Canonical SPDI:: NC_000016.10:22326130:G:A
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22326131G>A, NC_000016.9:g.22337452G>A, NW_017852933.1:g.778898C>T, XM_011545893.4:c.1719G>A, XM_011545893.3:c.1719G>A, XM_011545893.2:c.1719G>A, XM_011545893.1:c.1719G>A, NM_018119.4:c.1719G>A, NM_018119.3:c.1719G>A, XM_011545892.3:c.1716G>A, XM_011545892.2:c.1716G>A, XM_011545892.1:c.1716G>A, NR_047581.2:n.1836G>A, NR_047581.1:n.1870G>A, NM_001258033.2:c.1719G>A, NM_001258033.1:c.1719G>A, NM_001258035.2:c.1611G>A, NM_001258035.1:c.1611G>A, NM_001258034.2:c.1611G>A, NM_001258034.1:c.1611G>A, NM_001258036.2:c.1719G>A, NM_001258036.1:c.1719G>A, XM_047434362.1:c.1719G>A

Select item 148098429113.

rs1480984291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22332182 (GRCh38)
16:22343503 (GRCh37)
Canonical SPDI:: NC_000016.10:22332181:A:G
Gene:: POLR3E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22332182A>G, NC_000016.9:g.22343503A>G, NW_017852933.1:g.772847T>C, NM_018119.4:c.2067A>G, NM_018119.3:c.2067A>G, XM_011545892.3:c.2064A>G, XM_011545892.2:c.2064A>G, XM_011545892.1:c.2064A>G, NR_047581.2:n.2184A>G, NR_047581.1:n.2218A>G, NM_001258033.2:c.2004A>G, NM_001258033.1:c.2004A>G, NM_001258035.2:c.1959A>G, NM_001258035.1:c.1959A>G, NM_001258034.2:c.1959A>G, NM_001258034.1:c.1959A>G, XM_047434362.1:c.2067A>G

Select item 147945168914.

rs1479451689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22315193 (GRCh38)
16:22326514 (GRCh37)
Canonical SPDI:: NC_000016.10:22315192:T:C
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22315193T>C, NC_000016.9:g.22326514T>C, NW_017852933.1:g.789836A>G, XM_011545893.4:c.627T>C, XM_011545893.3:c.627T>C, XM_011545893.2:c.627T>C, XM_011545893.1:c.627T>C, NM_018119.4:c.627T>C, NM_018119.3:c.627T>C, XM_011545892.3:c.624T>C, XM_011545892.2:c.624T>C, XM_011545892.1:c.624T>C, NR_047581.2:n.744T>C, NR_047581.1:n.778T>C, NM_001258033.2:c.627T>C, NM_001258033.1:c.627T>C, NM_001258035.2:c.519T>C, NM_001258035.1:c.519T>C, NM_001258034.2:c.519T>C, NM_001258034.1:c.519T>C, NM_001258036.2:c.627T>C, NM_001258036.1:c.627T>C, XM_047434362.1:c.627T>C

Select item 147895885215.

rs1478958852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22322852 (GRCh38)
16:22334173 (GRCh37)
Canonical SPDI:: NC_000016.10:22322851:A:G
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22322852A>G, NC_000016.9:g.22334173A>G, NW_017852933.1:g.782177T>C, XM_011545893.4:c.989A>G, XM_011545893.3:c.989A>G, XM_011545893.2:c.989A>G, XM_011545893.1:c.989A>G, NM_018119.4:c.989A>G, NM_018119.3:c.989A>G, XM_011545892.3:c.986A>G, XM_011545892.2:c.986A>G, XM_011545892.1:c.986A>G, NR_047581.2:n.1106A>G, NR_047581.1:n.1140A>G, NM_001258033.2:c.989A>G, NM_001258033.1:c.989A>G, NM_001258035.2:c.881A>G, NM_001258035.1:c.881A>G, NM_001258034.2:c.881A>G, NM_001258034.1:c.881A>G, NM_001258036.2:c.989A>G, NM_001258036.1:c.989A>G, XM_047434362.1:c.989A>G, XP_011544195.1:p.Asp330Gly, NP_060589.1:p.Asp330Gly, XP_011544194.1:p.Asp329Gly, NP_001244962.1:p.Asp330Gly, NP_001244964.1:p.Asp294Gly, NP_001244963.1:p.Asp294Gly, NP_001244965.1:p.Asp330Gly, XP_047290318.1:p.Asp330Gly

Select item 147866852616.

rs1478668526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22308163 (GRCh38)
16:22319484 (GRCh37)
Canonical SPDI:: NC_000016.10:22308162:G:A
Gene:: POLR3E (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_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_000016.10:g.22308163G>A, NC_000016.9:g.22319484G>A, NW_017852933.1:g.796868C>T, XM_011545893.4:c.103G>A, XM_011545893.3:c.103G>A, XM_011545893.2:c.103G>A, XM_011545893.1:c.103G>A, NM_018119.4:c.103G>A, NM_018119.3:c.103G>A, XM_011545892.3:c.103G>A, XM_011545892.2:c.103G>A, XM_011545892.1:c.103G>A, NR_047581.2:n.270G>A, NR_047581.1:n.304G>A, NM_001258033.2:c.103G>A, NM_001258033.1:c.103G>A, NM_001258035.2:c.-6G>A, NM_001258035.1:c.-6G>A, NM_001258036.2:c.103G>A, NM_001258036.1:c.103G>A, XM_047434362.1:c.103G>A, XP_011544195.1:p.Ala35Thr, NP_060589.1:p.Ala35Thr, XP_011544194.1:p.Ala35Thr, NP_001244962.1:p.Ala35Thr, NP_001244965.1:p.Ala35Thr, XP_047290318.1:p.Ala35Thr

Select item 147821520217.

rs1478215202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22322917 (GRCh38)
16:22334238 (GRCh37)
Canonical SPDI:: NC_000016.10:22322916:G:A
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22322917G>A, NC_000016.9:g.22334238G>A, NW_017852933.1:g.782112C>T, XM_011545893.4:c.1054G>A, XM_011545893.3:c.1054G>A, XM_011545893.2:c.1054G>A, XM_011545893.1:c.1054G>A, NM_018119.4:c.1054G>A, NM_018119.3:c.1054G>A, XM_011545892.3:c.1051G>A, XM_011545892.2:c.1051G>A, XM_011545892.1:c.1051G>A, NR_047581.2:n.1171G>A, NR_047581.1:n.1205G>A, NM_001258033.2:c.1054G>A, NM_001258033.1:c.1054G>A, NM_001258035.2:c.946G>A, NM_001258035.1:c.946G>A, NM_001258034.2:c.946G>A, NM_001258034.1:c.946G>A, NM_001258036.2:c.1054G>A, NM_001258036.1:c.1054G>A, XM_047434362.1:c.1054G>A, XP_011544195.1:p.Gly352Ser, NP_060589.1:p.Gly352Ser, XP_011544194.1:p.Gly351Ser, NP_001244962.1:p.Gly352Ser, NP_001244964.1:p.Gly316Ser, NP_001244963.1:p.Gly316Ser, NP_001244965.1:p.Gly352Ser, XP_047290318.1:p.Gly352Ser

Select item 147670640518.

rs1476706405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22326220 (GRCh38)
16:22337541 (GRCh37)
Canonical SPDI:: NC_000016.10:22326219:C:T
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.22326220C>T, NC_000016.9:g.22337541C>T, NW_017852933.1:g.778809G>A, XM_011545893.4:c.1808C>T, XM_011545893.3:c.1808C>T, XM_011545893.2:c.1808C>T, XM_011545893.1:c.1808C>T, NM_018119.4:c.1808C>T, NM_018119.3:c.1808C>T, XM_011545892.3:c.1805C>T, XM_011545892.2:c.1805C>T, XM_011545892.1:c.1805C>T, NR_047581.2:n.1925C>T, NR_047581.1:n.1959C>T, NM_001258033.2:c.1808C>T, NM_001258033.1:c.1808C>T, NM_001258035.2:c.1700C>T, NM_001258035.1:c.1700C>T, NM_001258034.2:c.1700C>T, NM_001258034.1:c.1700C>T, NM_001258036.2:c.1808C>T, NM_001258036.1:c.1808C>T, XM_047434362.1:c.1808C>T, XP_011544195.1:p.Ser603Leu, NP_060589.1:p.Ser603Leu, XP_011544194.1:p.Ser602Leu, NP_001244962.1:p.Ser603Leu, NP_001244964.1:p.Ser567Leu, NP_001244963.1:p.Ser567Leu, NP_001244965.1:p.Ser603Leu, XP_047290318.1:p.Ser603Leu

Select item 147670279619.

rs1476702796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22313685 (GRCh38)
16:22325006 (GRCh37)
Canonical SPDI:: NC_000016.10:22313684:A:G
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.22313685A>G, NC_000016.9:g.22325006A>G, NW_017852933.1:g.791344T>C, XM_011545893.4:c.430A>G, XM_011545893.3:c.430A>G, XM_011545893.2:c.430A>G, XM_011545893.1:c.430A>G, NM_018119.4:c.430A>G, NM_018119.3:c.430A>G, XM_011545892.3:c.430A>G, XM_011545892.2:c.430A>G, XM_011545892.1:c.430A>G, NR_047581.2:n.547A>G, NR_047581.1:n.581A>G, NM_001258033.2:c.430A>G, NM_001258033.1:c.430A>G, NM_001258035.2:c.322A>G, NM_001258035.1:c.322A>G, NM_001258034.2:c.322A>G, NM_001258034.1:c.322A>G, NM_001258036.2:c.430A>G, NM_001258036.1:c.430A>G, XM_047434362.1:c.430A>G, XP_011544195.1:p.Lys144Glu, NP_060589.1:p.Lys144Glu, XP_011544194.1:p.Lys144Glu, NP_001244962.1:p.Lys144Glu, NP_001244964.1:p.Lys108Glu, NP_001244963.1:p.Lys108Glu, NP_001244965.1:p.Lys144Glu, XP_047290318.1:p.Lys144Glu

Select item 147625450920.

rs1476254509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22325764 (GRCh38)
16:22337085 (GRCh37)
Canonical SPDI:: NC_000016.10:22325763:C:T
Gene:: POLR3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22325764C>T, NC_000016.9:g.22337085C>T, NW_017852933.1:g.779265G>A, XM_011545893.4:c.1352C>T, XM_011545893.3:c.1352C>T, XM_011545893.2:c.1352C>T, XM_011545893.1:c.1352C>T, NM_018119.4:c.1352C>T, NM_018119.3:c.1352C>T, XM_011545892.3:c.1349C>T, XM_011545892.2:c.1349C>T, XM_011545892.1:c.1349C>T, NR_047581.2:n.1469C>T, NR_047581.1:n.1503C>T, NM_001258033.2:c.1352C>T, NM_001258033.1:c.1352C>T, NM_001258035.2:c.1244C>T, NM_001258035.1:c.1244C>T, NM_001258034.2:c.1244C>T, NM_001258034.1:c.1244C>T, NM_001258036.2:c.1352C>T, NM_001258036.1:c.1352C>T, XM_047434362.1:c.1352C>T, XP_011544195.1:p.Pro451Leu, NP_060589.1:p.Pro451Leu, XP_011544194.1:p.Pro450Leu, NP_001244962.1:p.Pro451Leu, NP_001244964.1:p.Pro415Leu, NP_001244963.1:p.Pro415Leu, NP_001244965.1:p.Pro451Leu, XP_047290318.1:p.Pro451Leu

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 721

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