SNP Links for Protein (Select 578811406) - SNP

Links from Protein

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Select item 14904422321.

rs1490442232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:44169377 (GRCh38)
6:44137114 (GRCh37)
Canonical SPDI:: NC_000006.12:44169376:G:A,NC_000006.12:44169376:G:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44169377G>A, NC_000006.12:g.44169377G>T, NC_000006.11:g.44137114G>A, NC_000006.11:g.44137114G>T, NM_007058.4:c.185G>A, NM_007058.4:c.185G>T, NM_007058.3:c.185G>A, NM_007058.3:c.185G>T, XM_011514274.2:c.200G>A, XM_011514274.2:c.200G>T, XM_011514274.1:c.200G>A, XM_011514274.1:c.200G>T, XR_001743136.2:n.217G>A, XR_001743136.2:n.217G>T, XR_001743136.1:n.226G>A, XR_001743136.1:n.226G>T, XR_926042.2:n.217G>A, XR_926042.2:n.217G>T, XR_926042.1:n.226G>A, XR_926042.1:n.226G>T, XM_006714984.2:c.188G>A, XM_006714984.2:c.188G>T, XM_006714984.1:c.188G>A, XM_006714984.1:c.188G>T, XR_001743135.2:n.217G>A, XR_001743135.2:n.217G>T, XR_001743135.1:n.226G>A, XR_001743135.1:n.226G>T, XM_006714985.2:c.188G>A, XM_006714985.2:c.188G>T, XM_006714985.1:c.188G>A, XM_006714985.1:c.188G>T, XR_001743134.2:n.217G>A, XR_001743134.2:n.217G>T, XR_001743134.1:n.226G>A, XR_001743134.1:n.226G>T, XM_006714987.2:c.188G>A, XM_006714987.2:c.188G>T, XM_006714987.1:c.188G>A, XM_006714987.1:c.188G>T, XR_926043.2:n.217G>A, XR_926043.2:n.217G>T, XR_926043.1:n.226G>A, XR_926043.1:n.226G>T, XR_926044.2:n.217G>A, XR_926044.2:n.217G>T, XR_926044.1:n.226G>A, XR_926044.1:n.226G>T, XM_011514275.1:c.197G>A, XM_011514275.1:c.197G>T, NP_008989.2:p.Gly62Asp, NP_008989.2:p.Gly62Val, XP_011512576.1:p.Gly67Asp, XP_011512576.1:p.Gly67Val, XP_006715047.1:p.Gly63Asp, XP_006715047.1:p.Gly63Val, XP_006715048.1:p.Gly63Asp, XP_006715048.1:p.Gly63Val, XP_006715050.1:p.Gly63Asp, XP_006715050.1:p.Gly63Val, XP_011512577.1:p.Gly66Asp, XP_011512577.1:p.Gly66Val

Select item 14867494112.

rs1486749411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44169311 (GRCh38)
6:44137048 (GRCh37)
Canonical SPDI:: NC_000006.12:44169310:C:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.44169311C>T, NC_000006.11:g.44137048C>T, NM_007058.4:c.119C>T, NM_007058.3:c.119C>T, XM_011514274.2:c.134C>T, XM_011514274.1:c.134C>T, XR_001743136.2:n.151C>T, XR_001743136.1:n.160C>T, XR_926042.2:n.151C>T, XR_926042.1:n.160C>T, XM_006714984.2:c.122C>T, XM_006714984.1:c.122C>T, XR_001743135.2:n.151C>T, XR_001743135.1:n.160C>T, XM_006714985.2:c.122C>T, XM_006714985.1:c.122C>T, XR_001743134.2:n.151C>T, XR_001743134.1:n.160C>T, XM_006714987.2:c.122C>T, XM_006714987.1:c.122C>T, XR_926043.2:n.151C>T, XR_926043.1:n.160C>T, XR_926044.2:n.151C>T, XR_926044.1:n.160C>T, XM_011514275.1:c.131C>T, NP_008989.2:p.Ala40Val, XP_011512576.1:p.Ala45Val, XP_006715047.1:p.Ala41Val, XP_006715048.1:p.Ala41Val, XP_006715050.1:p.Ala41Val, XP_011512577.1:p.Ala44Val

Select item 14858185273.

rs1485818527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:44169450 (GRCh38)
6:44137187 (GRCh37)
Canonical SPDI:: NC_000006.12:44169449:T:G
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_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.44169450T>G, NC_000006.11:g.44137187T>G, NM_007058.4:c.258T>G, NM_007058.3:c.258T>G, XM_011514274.2:c.273T>G, XM_011514274.1:c.273T>G, XR_001743136.2:n.290T>G, XR_001743136.1:n.299T>G, XR_926042.2:n.290T>G, XR_926042.1:n.299T>G, XM_006714984.2:c.261T>G, XM_006714984.1:c.261T>G, XR_001743135.2:n.290T>G, XR_001743135.1:n.299T>G, XM_006714985.2:c.261T>G, XM_006714985.1:c.261T>G, XR_001743134.2:n.290T>G, XR_001743134.1:n.299T>G, XM_006714987.2:c.261T>G, XM_006714987.1:c.261T>G, XR_926043.2:n.290T>G, XR_926043.1:n.299T>G, XR_926044.2:n.290T>G, XR_926044.1:n.299T>G, XM_011514275.1:c.270T>G

Select item 14814303204.

rs1481430320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:44177290 (GRCh38)
6:44145027 (GRCh37)
Canonical SPDI:: NC_000006.12:44177289:A:G,NC_000006.12:44177289:A:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44177290A>G, NC_000006.12:g.44177290A>T, NC_000006.11:g.44145027A>G, NC_000006.11:g.44145027A>T, NM_007058.4:c.1286A>G, NM_007058.4:c.1286A>T, NM_007058.3:c.1286A>G, NM_007058.3:c.1286A>T, XM_011514274.2:c.1301A>G, XM_011514274.2:c.1301A>T, XM_011514274.1:c.1301A>G, XM_011514274.1:c.1301A>T, XR_001743136.2:n.1318A>G, XR_001743136.2:n.1318A>T, XR_001743136.1:n.1327A>G, XR_001743136.1:n.1327A>T, XR_926042.2:n.1318A>G, XR_926042.2:n.1318A>T, XR_926042.1:n.1327A>G, XR_926042.1:n.1327A>T, XM_006714984.2:c.1289A>G, XM_006714984.2:c.1289A>T, XM_006714984.1:c.1289A>G, XM_006714984.1:c.1289A>T, XR_001743135.2:n.1318A>G, XR_001743135.2:n.1318A>T, XR_001743135.1:n.1327A>G, XR_001743135.1:n.1327A>T, XM_006714985.2:c.1289A>G, XM_006714985.2:c.1289A>T, XM_006714985.1:c.1289A>G, XM_006714985.1:c.1289A>T, XR_001743134.2:n.1318A>G, XR_001743134.2:n.1318A>T, XR_001743134.1:n.1327A>G, XR_001743134.1:n.1327A>T, XM_006714987.2:c.1289A>G, XM_006714987.2:c.1289A>T, XM_006714987.1:c.1289A>G, XM_006714987.1:c.1289A>T, XM_011514275.1:c.1298A>G, XM_011514275.1:c.1298A>T, NP_008989.2:p.Asp429Gly, NP_008989.2:p.Asp429Val, XP_011512576.1:p.Asp434Gly, XP_011512576.1:p.Asp434Val, XP_006715047.1:p.Asp430Gly, XP_006715047.1:p.Asp430Val, XP_006715048.1:p.Asp430Gly, XP_006715048.1:p.Asp430Val, XP_006715050.1:p.Asp430Gly, XP_006715050.1:p.Asp430Val, XP_011512577.1:p.Asp433Gly, XP_011512577.1:p.Asp433Val

Select item 14801363845.

rs1480136384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:44172375 (GRCh38)
6:44140112 (GRCh37)
Canonical SPDI:: NC_000006.12:44172374:A:G,NC_000006.12:44172374:A:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.44172375A>G, NC_000006.12:g.44172375A>T, NC_000006.11:g.44140112A>G, NC_000006.11:g.44140112A>T, NM_007058.4:c.483A>G, NM_007058.4:c.483A>T, NM_007058.3:c.483A>G, NM_007058.3:c.483A>T, XM_011514274.2:c.498A>G, XM_011514274.2:c.498A>T, XM_011514274.1:c.498A>G, XM_011514274.1:c.498A>T, XR_001743136.2:n.515A>G, XR_001743136.2:n.515A>T, XR_001743136.1:n.524A>G, XR_001743136.1:n.524A>T, XR_926042.2:n.515A>G, XR_926042.2:n.515A>T, XR_926042.1:n.524A>G, XR_926042.1:n.524A>T, XM_006714984.2:c.486A>G, XM_006714984.2:c.486A>T, XM_006714984.1:c.486A>G, XM_006714984.1:c.486A>T, XR_001743135.2:n.515A>G, XR_001743135.2:n.515A>T, XR_001743135.1:n.524A>G, XR_001743135.1:n.524A>T, XM_006714985.2:c.486A>G, XM_006714985.2:c.486A>T, XM_006714985.1:c.486A>G, XM_006714985.1:c.486A>T, XR_001743134.2:n.515A>G, XR_001743134.2:n.515A>T, XR_001743134.1:n.524A>G, XR_001743134.1:n.524A>T, XM_006714987.2:c.486A>G, XM_006714987.2:c.486A>T, XM_006714987.1:c.486A>G, XM_006714987.1:c.486A>T, XR_926043.2:n.515A>G, XR_926043.2:n.515A>T, XR_926043.1:n.524A>G, XR_926043.1:n.524A>T, XR_926044.2:n.515A>G, XR_926044.2:n.515A>T, XR_926044.1:n.524A>G, XR_926044.1:n.524A>T, XM_011514275.1:c.495A>G, XM_011514275.1:c.495A>T, NP_008989.2:p.Arg161Ser, XP_011512576.1:p.Arg166Ser, XP_006715047.1:p.Arg162Ser, XP_006715048.1:p.Arg162Ser, XP_006715050.1:p.Arg162Ser, XP_011512577.1:p.Arg165Ser

Select item 14796731736.

rs1479673173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44172955 (GRCh38)
6:44140692 (GRCh37)
Canonical SPDI:: NC_000006.12:44172954:C:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.44172955C>T, NC_000006.11:g.44140692C>T, NM_007058.4:c.544C>T, NM_007058.3:c.544C>T, XM_011514274.2:c.559C>T, XM_011514274.1:c.559C>T, XR_001743136.2:n.576C>T, XR_001743136.1:n.585C>T, XR_926042.2:n.576C>T, XR_926042.1:n.585C>T, XM_006714984.2:c.547C>T, XM_006714984.1:c.547C>T, XR_001743135.2:n.576C>T, XR_001743135.1:n.585C>T, XM_006714985.2:c.547C>T, XM_006714985.1:c.547C>T, XR_001743134.2:n.576C>T, XR_001743134.1:n.585C>T, XM_006714987.2:c.547C>T, XM_006714987.1:c.547C>T, XR_926043.2:n.576C>T, XR_926043.1:n.585C>T, XR_926044.2:n.576C>T, XR_926044.1:n.585C>T, XM_011514275.1:c.556C>T, NP_008989.2:p.Gln182Ter, XP_011512576.1:p.Gln187Ter, XP_006715047.1:p.Gln183Ter, XP_006715048.1:p.Gln183Ter, XP_006715050.1:p.Gln183Ter, XP_011512577.1:p.Gln186Ter

Select item 14789721277.

rs1478972127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44173291 (GRCh38)
6:44141028 (GRCh37)
Canonical SPDI:: NC_000006.12:44173290:G:A
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_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.44173291G>A, NC_000006.11:g.44141028G>A, NM_007058.4:c.736G>A, NM_007058.3:c.736G>A, XM_011514274.2:c.751G>A, XM_011514274.1:c.751G>A, XR_001743136.2:n.768G>A, XR_001743136.1:n.777G>A, XR_926042.2:n.768G>A, XR_926042.1:n.777G>A, XM_006714984.2:c.739G>A, XM_006714984.1:c.739G>A, XR_001743135.2:n.768G>A, XR_001743135.1:n.777G>A, XM_006714985.2:c.739G>A, XM_006714985.1:c.739G>A, XR_001743134.2:n.768G>A, XR_001743134.1:n.777G>A, XM_006714987.2:c.739G>A, XM_006714987.1:c.739G>A, XR_926043.2:n.768G>A, XR_926043.1:n.777G>A, XR_926044.2:n.768G>A, XR_926044.1:n.777G>A, XM_011514275.1:c.748G>A, NP_008989.2:p.Ala246Thr, XP_011512576.1:p.Ala251Thr, XP_006715047.1:p.Ala247Thr, XP_006715048.1:p.Ala247Thr, XP_006715050.1:p.Ala247Thr, XP_011512577.1:p.Ala250Thr

Select item 14781773858.

rs1478177385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:44176093 (GRCh38)
6:44143830 (GRCh37)
Canonical SPDI:: NC_000006.12:44176092:C:A,NC_000006.12:44176092:C:G
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44176093C>A, NC_000006.12:g.44176093C>G, NC_000006.11:g.44143830C>A, NC_000006.11:g.44143830C>G, NM_007058.4:c.857C>A, NM_007058.4:c.857C>G, NM_007058.3:c.857C>A, NM_007058.3:c.857C>G, XM_011514274.2:c.872C>A, XM_011514274.2:c.872C>G, XM_011514274.1:c.872C>A, XM_011514274.1:c.872C>G, XR_001743136.2:n.889C>A, XR_001743136.2:n.889C>G, XR_001743136.1:n.898C>A, XR_001743136.1:n.898C>G, XR_926042.2:n.889C>A, XR_926042.2:n.889C>G, XR_926042.1:n.898C>A, XR_926042.1:n.898C>G, XM_006714984.2:c.860C>A, XM_006714984.2:c.860C>G, XM_006714984.1:c.860C>A, XM_006714984.1:c.860C>G, XR_001743135.2:n.889C>A, XR_001743135.2:n.889C>G, XR_001743135.1:n.898C>A, XR_001743135.1:n.898C>G, XM_006714985.2:c.860C>A, XM_006714985.2:c.860C>G, XM_006714985.1:c.860C>A, XM_006714985.1:c.860C>G, XR_001743134.2:n.889C>A, XR_001743134.2:n.889C>G, XR_001743134.1:n.898C>A, XR_001743134.1:n.898C>G, XM_006714987.2:c.860C>A, XM_006714987.2:c.860C>G, XM_006714987.1:c.860C>A, XM_006714987.1:c.860C>G, XR_926043.2:n.889C>A, XR_926043.2:n.889C>G, XR_926043.1:n.898C>A, XR_926043.1:n.898C>G, XR_926044.2:n.889C>A, XR_926044.2:n.889C>G, XR_926044.1:n.898C>A, XR_926044.1:n.898C>G, XM_011514275.1:c.869C>A, XM_011514275.1:c.869C>G, NP_008989.2:p.Ser286Tyr, NP_008989.2:p.Ser286Cys, XP_011512576.1:p.Ser291Tyr, XP_011512576.1:p.Ser291Cys, XP_006715047.1:p.Ser287Tyr, XP_006715047.1:p.Ser287Cys, XP_006715048.1:p.Ser287Tyr, XP_006715048.1:p.Ser287Cys, XP_006715050.1:p.Ser287Tyr, XP_006715050.1:p.Ser287Cys, XP_011512577.1:p.Ser290Tyr, XP_011512577.1:p.Ser290Cys

Select item 14774665799.

rs1477466579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44177375 (GRCh38)
6:44145112 (GRCh37)
Canonical SPDI:: NC_000006.12:44177374:G:A
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.44177375G>A, NC_000006.11:g.44145112G>A, NM_007058.4:c.1371G>A, NM_007058.3:c.1371G>A, XM_011514274.2:c.1386G>A, XM_011514274.1:c.1386G>A, XR_001743136.2:n.1403G>A, XR_001743136.1:n.1412G>A, XR_926042.2:n.1403G>A, XR_926042.1:n.1412G>A, XM_006714984.2:c.1374G>A, XM_006714984.1:c.1374G>A, XR_001743135.2:n.1403G>A, XR_001743135.1:n.1412G>A, XM_006714985.2:c.1374G>A, XM_006714985.1:c.1374G>A, XR_001743134.2:n.1403G>A, XR_001743134.1:n.1412G>A, XM_006714987.2:c.1374G>A, XM_006714987.1:c.1374G>A, XM_011514275.1:c.1383G>A

Select item 147722069510.

rs1477220695 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:44166769 (GRCh38)
6:44134506 (GRCh37)
Canonical SPDI:: NC_000006.12:44166768:CC:C
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44166770del, NC_000006.11:g.44134507del, NM_007058.4:c.29del, NM_007058.3:c.29del, XM_011514274.2:c.41del, XM_011514274.1:c.41del, XR_001743136.2:n.58del, XR_001743136.1:n.67del, XR_926042.2:n.58del, XR_926042.1:n.67del, XM_006714984.2:c.29del, XM_006714984.1:c.29del, XR_001743135.2:n.58del, XR_001743135.1:n.67del, XM_006714985.2:c.29del, XM_006714985.1:c.29del, XR_001743134.2:n.58del, XR_001743134.1:n.67del, XM_006714987.2:c.29del, XM_006714987.1:c.29del, XR_926043.2:n.58del, XR_926043.1:n.67del, XR_926044.2:n.58del, XR_926044.1:n.67del, XM_011514275.1:c.41del, NP_008989.2:p.Pro10fs, XP_011512576.1:p.Pro14fs, XP_006715047.1:p.Pro10fs, XP_006715048.1:p.Pro10fs, XP_006715050.1:p.Pro10fs, XP_011512577.1:p.Pro14fs

Select item 147549950311.

rs1475499503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:44180780 (GRCh38)
6:44148517 (GRCh37)
Canonical SPDI:: NC_000006.12:44180779:G:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.44180780G>T, NC_000006.11:g.44148517G>T, NM_007058.4:c.1779G>T, NM_007058.3:c.1779G>T, XM_011514274.2:c.1794G>T, XM_011514274.1:c.1794G>T, XR_001743136.2:n.1811G>T, XR_001743136.1:n.1820G>T, XR_926042.2:n.1811G>T, XR_926042.1:n.1820G>T, XM_006714984.2:c.1782G>T, XM_006714984.1:c.1782G>T, XR_001743135.2:n.1811G>T, XR_001743135.1:n.1820G>T, XM_006714985.2:c.1782G>T, XM_006714985.1:c.1782G>T, XR_001743134.2:n.1811G>T, XR_001743134.1:n.1820G>T, XM_006714987.2:c.1782G>T, XM_006714987.1:c.1782G>T, XM_011514275.1:c.1791G>T, NP_008989.2:p.Arg593Ser, XP_011512576.1:p.Arg598Ser, XP_006715047.1:p.Arg594Ser, XP_006715048.1:p.Arg594Ser, XP_006715050.1:p.Arg594Ser, XP_011512577.1:p.Arg597Ser

Select item 147526043012.

rs1475260430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44169510 (GRCh38)
6:44137247 (GRCh37)
Canonical SPDI:: NC_000006.12:44169509:C:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44169510C>T, NC_000006.11:g.44137247C>T, NM_007058.4:c.318C>T, NM_007058.3:c.318C>T, XM_011514274.2:c.333C>T, XM_011514274.1:c.333C>T, XR_001743136.2:n.350C>T, XR_001743136.1:n.359C>T, XR_926042.2:n.350C>T, XR_926042.1:n.359C>T, XM_006714984.2:c.321C>T, XM_006714984.1:c.321C>T, XR_001743135.2:n.350C>T, XR_001743135.1:n.359C>T, XM_006714985.2:c.321C>T, XM_006714985.1:c.321C>T, XR_001743134.2:n.350C>T, XR_001743134.1:n.359C>T, XM_006714987.2:c.321C>T, XM_006714987.1:c.321C>T, XR_926043.2:n.350C>T, XR_926043.1:n.359C>T, XR_926044.2:n.350C>T, XR_926044.1:n.359C>T, XM_011514275.1:c.330C>T

Select item 147474612413.

rs1474746124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:44172997 (GRCh38)
6:44140734 (GRCh37)
Canonical SPDI:: NC_000006.12:44172996:A:G
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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.44172997A>G, NC_000006.11:g.44140734A>G, NM_007058.4:c.586A>G, NM_007058.3:c.586A>G, XM_011514274.2:c.601A>G, XM_011514274.1:c.601A>G, XR_001743136.2:n.618A>G, XR_001743136.1:n.627A>G, XR_926042.2:n.618A>G, XR_926042.1:n.627A>G, XM_006714984.2:c.589A>G, XM_006714984.1:c.589A>G, XR_001743135.2:n.618A>G, XR_001743135.1:n.627A>G, XM_006714985.2:c.589A>G, XM_006714985.1:c.589A>G, XR_001743134.2:n.618A>G, XR_001743134.1:n.627A>G, XM_006714987.2:c.589A>G, XM_006714987.1:c.589A>G, XR_926043.2:n.618A>G, XR_926043.1:n.627A>G, XR_926044.2:n.618A>G, XR_926044.1:n.627A>G, XM_011514275.1:c.598A>G, NP_008989.2:p.Asn196Asp, XP_011512576.1:p.Asn201Asp, XP_006715047.1:p.Asn197Asp, XP_006715048.1:p.Asn197Asp, XP_006715050.1:p.Asn197Asp, XP_011512577.1:p.Asn200Asp

Select item 147380084414.

rs1473800844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44176932 (GRCh38)
6:44144669 (GRCh37)
Canonical SPDI:: NC_000006.12:44176931:C:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44176932C>T, NC_000006.11:g.44144669C>T, NM_007058.4:c.1171C>T, NM_007058.3:c.1171C>T, XM_011514274.2:c.1186C>T, XM_011514274.1:c.1186C>T, XR_001743136.2:n.1203C>T, XR_001743136.1:n.1212C>T, XR_926042.2:n.1203C>T, XR_926042.1:n.1212C>T, XM_006714984.2:c.1174C>T, XM_006714984.1:c.1174C>T, XR_001743135.2:n.1203C>T, XR_001743135.1:n.1212C>T, XM_006714985.2:c.1174C>T, XM_006714985.1:c.1174C>T, XR_001743134.2:n.1203C>T, XR_001743134.1:n.1212C>T, XM_006714987.2:c.1174C>T, XM_006714987.1:c.1174C>T, XR_926043.2:n.1203C>T, XR_926043.1:n.1212C>T, XR_926044.2:n.1203C>T, XR_926044.1:n.1212C>T, XM_011514275.1:c.1183C>T, NP_008989.2:p.His391Tyr, XP_011512576.1:p.His396Tyr, XP_006715047.1:p.His392Tyr, XP_006715048.1:p.His392Tyr, XP_006715050.1:p.His392Tyr, XP_011512577.1:p.His395Tyr

Select item 147189878515.

rs1471898785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:44176858 (GRCh38)
6:44144595 (GRCh37)
Canonical SPDI:: NC_000006.12:44176857:T:C
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.44176858T>C, NC_000006.11:g.44144595T>C, NM_007058.4:c.1097T>C, NM_007058.3:c.1097T>C, XM_011514274.2:c.1112T>C, XM_011514274.1:c.1112T>C, XR_001743136.2:n.1129T>C, XR_001743136.1:n.1138T>C, XR_926042.2:n.1129T>C, XR_926042.1:n.1138T>C, XM_006714984.2:c.1100T>C, XM_006714984.1:c.1100T>C, XR_001743135.2:n.1129T>C, XR_001743135.1:n.1138T>C, XM_006714985.2:c.1100T>C, XM_006714985.1:c.1100T>C, XR_001743134.2:n.1129T>C, XR_001743134.1:n.1138T>C, XM_006714987.2:c.1100T>C, XM_006714987.1:c.1100T>C, XR_926043.2:n.1129T>C, XR_926043.1:n.1138T>C, XR_926044.2:n.1129T>C, XR_926044.1:n.1138T>C, XM_011514275.1:c.1109T>C, NP_008989.2:p.Leu366Pro, XP_011512576.1:p.Leu371Pro, XP_006715047.1:p.Leu367Pro, XP_006715048.1:p.Leu367Pro, XP_006715050.1:p.Leu367Pro, XP_011512577.1:p.Leu370Pro

Select item 147167589516.

rs1471675895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:44169387 (GRCh38)
6:44137124 (GRCh37)
Canonical SPDI:: NC_000006.12:44169386:C:A,NC_000006.12:44169386:C:T
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44169387C>A, NC_000006.12:g.44169387C>T, NC_000006.11:g.44137124C>A, NC_000006.11:g.44137124C>T, NM_007058.4:c.195C>A, NM_007058.4:c.195C>T, NM_007058.3:c.195C>A, NM_007058.3:c.195C>T, XM_011514274.2:c.210C>A, XM_011514274.2:c.210C>T, XM_011514274.1:c.210C>A, XM_011514274.1:c.210C>T, XR_001743136.2:n.227C>A, XR_001743136.2:n.227C>T, XR_001743136.1:n.236C>A, XR_001743136.1:n.236C>T, XR_926042.2:n.227C>A, XR_926042.2:n.227C>T, XR_926042.1:n.236C>A, XR_926042.1:n.236C>T, XM_006714984.2:c.198C>A, XM_006714984.2:c.198C>T, XM_006714984.1:c.198C>A, XM_006714984.1:c.198C>T, XR_001743135.2:n.227C>A, XR_001743135.2:n.227C>T, XR_001743135.1:n.236C>A, XR_001743135.1:n.236C>T, XM_006714985.2:c.198C>A, XM_006714985.2:c.198C>T, XM_006714985.1:c.198C>A, XM_006714985.1:c.198C>T, XR_001743134.2:n.227C>A, XR_001743134.2:n.227C>T, XR_001743134.1:n.236C>A, XR_001743134.1:n.236C>T, XM_006714987.2:c.198C>A, XM_006714987.2:c.198C>T, XM_006714987.1:c.198C>A, XM_006714987.1:c.198C>T, XR_926043.2:n.227C>A, XR_926043.2:n.227C>T, XR_926043.1:n.236C>A, XR_926043.1:n.236C>T, XR_926044.2:n.227C>A, XR_926044.2:n.227C>T, XR_926044.1:n.236C>A, XR_926044.1:n.236C>T, XM_011514275.1:c.207C>A, XM_011514275.1:c.207C>T, NP_008989.2:p.Ser65Arg, XP_011512576.1:p.Ser70Arg, XP_006715047.1:p.Ser66Arg, XP_006715048.1:p.Ser66Arg, XP_006715050.1:p.Ser66Arg, XP_011512577.1:p.Ser69Arg

Select item 147091979417.

rs1470919794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44169525 (GRCh38)
6:44137262 (GRCh37)
Canonical SPDI:: NC_000006.12:44169524:G:A
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.44169525G>A, NC_000006.11:g.44137262G>A, NM_007058.4:c.333G>A, NM_007058.3:c.333G>A, XM_011514274.2:c.348G>A, XM_011514274.1:c.348G>A, XR_001743136.2:n.365G>A, XR_001743136.1:n.374G>A, XR_926042.2:n.365G>A, XR_926042.1:n.374G>A, XM_006714984.2:c.336G>A, XM_006714984.1:c.336G>A, XR_001743135.2:n.365G>A, XR_001743135.1:n.374G>A, XM_006714985.2:c.336G>A, XM_006714985.1:c.336G>A, XR_001743134.2:n.365G>A, XR_001743134.1:n.374G>A, XM_006714987.2:c.336G>A, XM_006714987.1:c.336G>A, XR_926043.2:n.365G>A, XR_926043.1:n.374G>A, XR_926044.2:n.365G>A, XR_926044.1:n.374G>A, XM_011514275.1:c.345G>A

Select item 147042263018.

rs1470422630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:44173376 (GRCh38)
6:44141113 (GRCh37)
Canonical SPDI:: NC_000006.12:44173375:G:C
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.44173376G>C, NC_000006.11:g.44141113G>C, NM_007058.4:c.821G>C, NM_007058.3:c.821G>C, XM_011514274.2:c.836G>C, XM_011514274.1:c.836G>C, XR_001743136.2:n.853G>C, XR_001743136.1:n.862G>C, XR_926042.2:n.853G>C, XR_926042.1:n.862G>C, XM_006714984.2:c.824G>C, XM_006714984.1:c.824G>C, XR_001743135.2:n.853G>C, XR_001743135.1:n.862G>C, XM_006714985.2:c.824G>C, XM_006714985.1:c.824G>C, XR_001743134.2:n.853G>C, XR_001743134.1:n.862G>C, XM_006714987.2:c.824G>C, XM_006714987.1:c.824G>C, XR_926043.2:n.853G>C, XR_926043.1:n.862G>C, XR_926044.2:n.853G>C, XR_926044.1:n.862G>C, XM_011514275.1:c.833G>C, NP_008989.2:p.Cys274Ser, XP_011512576.1:p.Cys279Ser, XP_006715047.1:p.Cys275Ser, XP_006715048.1:p.Cys275Ser, XP_006715050.1:p.Cys275Ser, XP_011512577.1:p.Cys278Ser

Select item 146968631819.

rs1469686318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44176106 (GRCh38)
6:44143843 (GRCh37)
Canonical SPDI:: NC_000006.12:44176105:G:A
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.44176106G>A, NC_000006.11:g.44143843G>A, NM_007058.4:c.870G>A, NM_007058.3:c.870G>A, XM_011514274.2:c.885G>A, XM_011514274.1:c.885G>A, XR_001743136.2:n.902G>A, XR_001743136.1:n.911G>A, XR_926042.2:n.902G>A, XR_926042.1:n.911G>A, XM_006714984.2:c.873G>A, XM_006714984.1:c.873G>A, XR_001743135.2:n.902G>A, XR_001743135.1:n.911G>A, XM_006714985.2:c.873G>A, XM_006714985.1:c.873G>A, XR_001743134.2:n.902G>A, XR_001743134.1:n.911G>A, XM_006714987.2:c.873G>A, XM_006714987.1:c.873G>A, XR_926043.2:n.902G>A, XR_926043.1:n.911G>A, XR_926044.2:n.902G>A, XR_926044.1:n.911G>A, XM_011514275.1:c.882G>A

Select item 146889005820.

rs1468890058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:44180638 (GRCh38)
6:44148375 (GRCh37)
Canonical SPDI:: NC_000006.12:44180637:T:C
Gene:: POLR1C (Varview), CAPN11 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.44180638T>C, NC_000006.11:g.44148375T>C, NM_007058.4:c.1722T>C, NM_007058.3:c.1722T>C, XM_011514274.2:c.1737T>C, XM_011514274.1:c.1737T>C, XR_001743136.2:n.1754T>C, XR_001743136.1:n.1763T>C, XR_926042.2:n.1754T>C, XR_926042.1:n.1763T>C, XM_006714984.2:c.1725T>C, XM_006714984.1:c.1725T>C, XR_001743135.2:n.1754T>C, XR_001743135.1:n.1763T>C, XM_006714985.2:c.1725T>C, XM_006714985.1:c.1725T>C, XR_001743134.2:n.1754T>C, XR_001743134.1:n.1763T>C, XM_006714987.2:c.1725T>C, XM_006714987.1:c.1725T>C, XM_011514275.1:c.1734T>C

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