SNP Links for Protein (Select 530399644) - SNP

Links from Protein

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Select item 14880084171.

rs1488008417 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGACCAG>- [Show Flanks]
Chromosome:: 12:69257873 (GRCh38)
12:69651653 (GRCh37)
Canonical SPDI:: NC_000012.12:69257868:CCAGCAGGACCAG:CCAG
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CCAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.69257873_69257881del, NC_000012.11:g.69651653_69651661del, XM_005268588.4:c.662_670del, XM_005268588.3:c.662_670del, XM_005268588.2:c.662_670del, XM_005268588.1:c.662_670del, XM_005268590.4:c.662_670del, XM_005268590.3:c.662_670del, XM_005268590.2:c.662_670del, XM_005268590.1:c.662_670del, NM_007007.3:c.662_670del, NM_007007.2:c.662_670del, NM_001300947.2:c.662_670del, NM_001300947.1:c.662_670del, XM_047428132.1:c.662_670del, XP_005268645.1:p.Ala221_Pro223del, XP_005268647.1:p.Ala221_Pro223del, NP_008938.2:p.Ala221_Pro223del, NP_001287876.1:p.Ala221_Pro223del, XP_047284088.1:p.Ala221_Pro223del

Select item 14866948272.

rs1486694827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:69251259 (GRCh38)
12:69645039 (GRCh37)
Canonical SPDI:: NC_000012.12:69251258:T:G
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69251259T>G, NC_000012.11:g.69645039T>G, XM_005268588.4:c.191T>G, XM_005268588.3:c.191T>G, XM_005268588.2:c.191T>G, XM_005268588.1:c.191T>G, XM_005268590.4:c.191T>G, XM_005268590.3:c.191T>G, XM_005268590.2:c.191T>G, XM_005268590.1:c.191T>G, NM_007007.3:c.191T>G, NM_007007.2:c.191T>G, NM_001300947.2:c.191T>G, NM_001300947.1:c.191T>G, XM_047428132.1:c.191T>G, XP_005268645.1:p.Val64Gly, XP_005268647.1:p.Val64Gly, NP_008938.2:p.Val64Gly, NP_001287876.1:p.Val64Gly, XP_047284088.1:p.Val64Gly

Select item 14830348023.

rs1483034802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:69258593 (GRCh38)
12:69652373 (GRCh37)
Canonical SPDI:: NC_000012.12:69258592:G:A,NC_000012.12:69258592:G:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.69258593G>A, NC_000012.12:g.69258593G>T, NC_000012.11:g.69652373G>A, NC_000012.11:g.69652373G>T, XM_005268588.4:c.809G>A, XM_005268588.4:c.809G>T, XM_005268588.3:c.809G>A, XM_005268588.3:c.809G>T, XM_005268588.2:c.809G>A, XM_005268588.2:c.809G>T, XM_005268588.1:c.809G>A, XM_005268588.1:c.809G>T, XM_005268590.4:c.698G>A, XM_005268590.4:c.698G>T, XM_005268590.3:c.698G>A, XM_005268590.3:c.698G>T, XM_005268590.2:c.698G>A, XM_005268590.2:c.698G>T, XM_005268590.1:c.698G>A, XM_005268590.1:c.698G>T, NM_007007.3:c.698G>A, NM_007007.3:c.698G>T, NM_007007.2:c.698G>A, NM_007007.2:c.698G>T, NM_001300947.2:c.809G>A, NM_001300947.2:c.809G>T, NM_001300947.1:c.809G>A, NM_001300947.1:c.809G>T, XM_047428132.1:c.809G>A, XM_047428132.1:c.809G>T, XP_005268645.1:p.Gly270Glu, XP_005268645.1:p.Gly270Val, XP_005268647.1:p.Gly233Glu, XP_005268647.1:p.Gly233Val, NP_008938.2:p.Gly233Glu, NP_008938.2:p.Gly233Val, NP_001287876.1:p.Gly270Glu, NP_001287876.1:p.Gly270Val, XP_047284088.1:p.Gly270Glu, XP_047284088.1:p.Gly270Val

Select item 14821070354.

rs1482107035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69257798 (GRCh38)
12:69651578 (GRCh37)
Canonical SPDI:: NC_000012.12:69257797:C:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69257798C>T, NC_000012.11:g.69651578C>T, XM_005268588.4:c.587C>T, XM_005268588.3:c.587C>T, XM_005268588.2:c.587C>T, XM_005268588.1:c.587C>T, XM_005268590.4:c.587C>T, XM_005268590.3:c.587C>T, XM_005268590.2:c.587C>T, XM_005268590.1:c.587C>T, NM_007007.3:c.587C>T, NM_007007.2:c.587C>T, NM_001300947.2:c.587C>T, NM_001300947.1:c.587C>T, XM_047428132.1:c.587C>T, XP_005268645.1:p.Ala196Val, XP_005268647.1:p.Ala196Val, NP_008938.2:p.Ala196Val, NP_001287876.1:p.Ala196Val, XP_047284088.1:p.Ala196Val

Select item 14820514805.

rs1482051480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:69259082 (GRCh38)
12:69652862 (GRCh37)
Canonical SPDI:: NC_000012.12:69259081:G:C
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69259082G>C, NC_000012.11:g.69652862G>C, XM_005268588.4:c.1298G>C, XM_005268588.3:c.1298G>C, XM_005268588.2:c.1298G>C, XM_005268588.1:c.1298G>C, XM_005268590.4:c.1187G>C, XM_005268590.3:c.1187G>C, XM_005268590.2:c.1187G>C, XM_005268590.1:c.1187G>C, NM_007007.3:c.1187G>C, NM_007007.2:c.1187G>C, NM_001300947.2:c.1298G>C, NM_001300947.1:c.1298G>C, XM_047428132.1:c.1298G>C, XP_005268645.1:p.Gly433Ala, XP_005268647.1:p.Gly396Ala, NP_008938.2:p.Gly396Ala, NP_001287876.1:p.Gly433Ala, XP_047284088.1:p.Gly433Ala

Select item 14799507496.

rs1479950749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69262515 (GRCh38)
12:69656295 (GRCh37)
Canonical SPDI:: NC_000012.12:69262514:C:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.69262515C>T, NC_000012.11:g.69656295C>T, XM_005268588.4:c.1726C>T, XM_005268588.3:c.1726C>T, XM_005268588.2:c.1726C>T, XM_005268588.1:c.1726C>T, XM_005268590.4:c.1615C>T, XM_005268590.3:c.1615C>T, XM_005268590.2:c.1615C>T, XM_005268590.1:c.1615C>T, NM_007007.3:c.1612C>T, NM_007007.2:c.1612C>T, NM_001300947.2:c.1723C>T, NM_001300947.1:c.1723C>T, XM_047428132.1:c.1726C>T, XP_005268645.1:p.Arg576Cys, XP_005268647.1:p.Arg539Cys, NP_008938.2:p.Arg538Cys, NP_001287876.1:p.Arg575Cys, XP_047284088.1:p.Arg576Cys

Select item 14788588327.

rs1478858832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69258950 (GRCh38)
12:69652730 (GRCh37)
Canonical SPDI:: NC_000012.12:69258949:C:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_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_000012.12:g.69258950C>T, NC_000012.11:g.69652730C>T, XM_005268588.4:c.1166C>T, XM_005268588.3:c.1166C>T, XM_005268588.2:c.1166C>T, XM_005268588.1:c.1166C>T, XM_005268590.4:c.1055C>T, XM_005268590.3:c.1055C>T, XM_005268590.2:c.1055C>T, XM_005268590.1:c.1055C>T, NM_007007.3:c.1055C>T, NM_007007.2:c.1055C>T, NM_001300947.2:c.1166C>T, NM_001300947.1:c.1166C>T, XM_047428132.1:c.1166C>T, XP_005268645.1:p.Pro389Leu, XP_005268647.1:p.Pro352Leu, NP_008938.2:p.Pro352Leu, NP_001287876.1:p.Pro389Leu, XP_047284088.1:p.Pro389Leu

Select item 14761633768.

rs1476163376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69257821 (GRCh38)
12:69651601 (GRCh37)
Canonical SPDI:: NC_000012.12:69257820:C:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69257821C>T, NC_000012.11:g.69651601C>T, XM_005268588.4:c.610C>T, XM_005268588.3:c.610C>T, XM_005268588.2:c.610C>T, XM_005268588.1:c.610C>T, XM_005268590.4:c.610C>T, XM_005268590.3:c.610C>T, XM_005268590.2:c.610C>T, XM_005268590.1:c.610C>T, NM_007007.3:c.610C>T, NM_007007.2:c.610C>T, NM_001300947.2:c.610C>T, NM_001300947.1:c.610C>T, XM_047428132.1:c.610C>T, XP_005268645.1:p.Arg204Trp, XP_005268647.1:p.Arg204Trp, NP_008938.2:p.Arg204Trp, NP_001287876.1:p.Arg204Trp, XP_047284088.1:p.Arg204Trp

Select item 14749880229.

rs1474988022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69251289 (GRCh38)
12:69645069 (GRCh37)
Canonical SPDI:: NC_000012.12:69251288:A:G
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.69251289A>G, NC_000012.11:g.69645069A>G, XM_005268588.4:c.221A>G, XM_005268588.3:c.221A>G, XM_005268588.2:c.221A>G, XM_005268588.1:c.221A>G, XM_005268590.4:c.221A>G, XM_005268590.3:c.221A>G, XM_005268590.2:c.221A>G, XM_005268590.1:c.221A>G, NM_007007.3:c.221A>G, NM_007007.2:c.221A>G, NM_001300947.2:c.221A>G, NM_001300947.1:c.221A>G, XM_047428132.1:c.221A>G, XP_005268645.1:p.Tyr74Cys, XP_005268647.1:p.Tyr74Cys, NP_008938.2:p.Tyr74Cys, NP_001287876.1:p.Tyr74Cys, XP_047284088.1:p.Tyr74Cys

Select item 146923251110.

rs1469232511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69256820 (GRCh38)
12:69650600 (GRCh37)
Canonical SPDI:: NC_000012.12:69256819:A:G
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69256820A>G, NC_000012.11:g.69650600A>G, XM_005268588.4:c.498A>G, XM_005268588.3:c.498A>G, XM_005268588.2:c.498A>G, XM_005268588.1:c.498A>G, XM_005268590.4:c.498A>G, XM_005268590.3:c.498A>G, XM_005268590.2:c.498A>G, XM_005268590.1:c.498A>G, NM_007007.3:c.498A>G, NM_007007.2:c.498A>G, NM_001300947.2:c.498A>G, NM_001300947.1:c.498A>G, XM_047428132.1:c.498A>G

Select item 146656049111.

rs1466560491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69258797 (GRCh38)
12:69652577 (GRCh37)
Canonical SPDI:: NC_000012.12:69258796:C:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69258797C>T, NC_000012.11:g.69652577C>T, XM_005268588.4:c.1013C>T, XM_005268588.3:c.1013C>T, XM_005268588.2:c.1013C>T, XM_005268588.1:c.1013C>T, XM_005268590.4:c.902C>T, XM_005268590.3:c.902C>T, XM_005268590.2:c.902C>T, XM_005268590.1:c.902C>T, NM_007007.3:c.902C>T, NM_007007.2:c.902C>T, NM_001300947.2:c.1013C>T, NM_001300947.1:c.1013C>T, XM_047428132.1:c.1013C>T, XP_005268645.1:p.Pro338Leu, XP_005268647.1:p.Pro301Leu, NP_008938.2:p.Pro301Leu, NP_001287876.1:p.Pro338Leu, XP_047284088.1:p.Pro338Leu

Select item 146643678612.

rs1466436786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:69262503 (GRCh38)
12:69656283 (GRCh37)
Canonical SPDI:: NC_000012.12:69262502:C:T
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.69262503C>T, NC_000012.11:g.69656283C>T, XM_005268588.4:c.1714C>T, XM_005268588.3:c.1714C>T, XM_005268588.2:c.1714C>T, XM_005268588.1:c.1714C>T, XM_005268590.4:c.1603C>T, XM_005268590.3:c.1603C>T, XM_005268590.2:c.1603C>T, XM_005268590.1:c.1603C>T, NM_007007.3:c.1600C>T, NM_007007.2:c.1600C>T, NM_001300947.2:c.1711C>T, NM_001300947.1:c.1711C>T, XM_047428132.1:c.1714C>T, XP_005268645.1:p.Arg572Cys, XP_005268647.1:p.Arg535Cys, NP_008938.2:p.Arg534Cys, NP_001287876.1:p.Arg571Cys, XP_047284088.1:p.Arg572Cys

Select item 146631590513.

rs1466315905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:69257784 (GRCh38)
12:69651564 (GRCh37)
Canonical SPDI:: NC_000012.12:69257783:C:G
Gene:: CPSF6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.69257784C>G, NC_000012.11:g.69651564C>G, XM_005268588.4:c.573C>G, XM_005268588.3:c.573C>G, XM_005268588.2:c.573C>G, XM_005268588.1:c.573C>G, XM_005268590.4:c.573C>G, XM_005268590.3:c.573C>G, XM_005268590.2:c.573C>G, XM_005268590.1:c.573C>G, NM_007007.3:c.573C>G, NM_007007.2:c.573C>G, NM_001300947.2:c.573C>G, NM_001300947.1:c.573C>G, XM_047428132.1:c.573C>G

Select item 146029350014.

rs1460293500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:69262400 (GRCh38)
12:69656180 (GRCh37)
Canonical SPDI:: NC_000012.12:69262399:T:C
Gene:: CPSF6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69262400T>C, NC_000012.11:g.69656180T>C, XM_005268588.4:c.1611T>C, XM_005268588.3:c.1611T>C, XM_005268588.2:c.1611T>C, XM_005268588.1:c.1611T>C, XM_005268590.4:c.1500T>C, XM_005268590.3:c.1500T>C, XM_005268590.2:c.1500T>C, XM_005268590.1:c.1500T>C, NM_007007.3:c.1497T>C, NM_007007.2:c.1497T>C, NM_001300947.2:c.1608T>C, NM_001300947.1:c.1608T>C, XM_047428132.1:c.1611T>C

Select item 145640245515.

rs1456402455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69260176 (GRCh38)
12:69653956 (GRCh37)
Canonical SPDI:: NC_000012.12:69260175:A:G
Gene:: CPSF6 (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)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69260176A>G, NC_000012.11:g.69653956A>G, XM_005268588.4:c.1559A>G, XM_005268588.3:c.1559A>G, XM_005268588.2:c.1559A>G, XM_005268588.1:c.1559A>G, XM_005268590.4:c.1448A>G, XM_005268590.3:c.1448A>G, XM_005268590.2:c.1448A>G, XM_005268590.1:c.1448A>G, NM_007007.3:c.1448A>G, NM_007007.2:c.1448A>G, NM_001300947.2:c.1559A>G, NM_001300947.1:c.1559A>G, XM_047428132.1:c.1559A>G, XP_005268645.1:p.Lys520Arg, XP_005268647.1:p.Lys483Arg, NP_008938.2:p.Lys483Arg, NP_001287876.1:p.Lys520Arg, XP_047284088.1:p.Lys520Arg

Select item 145550634216.

rs1455506342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69258867 (GRCh38)
12:69652647 (GRCh37)
Canonical SPDI:: NC_000012.12:69258866:A:G
Gene:: CPSF6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69258867A>G, NC_000012.11:g.69652647A>G, XM_005268588.4:c.1083A>G, XM_005268588.3:c.1083A>G, XM_005268588.2:c.1083A>G, XM_005268588.1:c.1083A>G, XM_005268590.4:c.972A>G, XM_005268590.3:c.972A>G, XM_005268590.2:c.972A>G, XM_005268590.1:c.972A>G, NM_007007.3:c.972A>G, NM_007007.2:c.972A>G, NM_001300947.2:c.1083A>G, NM_001300947.1:c.1083A>G, XM_047428132.1:c.1083A>G

Select item 145464433817.

rs1454644338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:69262375 (GRCh38)
12:69656155 (GRCh37)
Canonical SPDI:: NC_000012.12:69262374:G:A
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.69262375G>A, NC_000012.11:g.69656155G>A, XM_005268588.4:c.1586G>A, XM_005268588.3:c.1586G>A, XM_005268588.2:c.1586G>A, XM_005268588.1:c.1586G>A, XM_005268590.4:c.1475G>A, XM_005268590.3:c.1475G>A, XM_005268590.2:c.1475G>A, XM_005268590.1:c.1475G>A, NM_007007.3:c.1472G>A, NM_007007.2:c.1472G>A, NM_001300947.2:c.1583G>A, NM_001300947.1:c.1583G>A, XM_047428132.1:c.1586G>A, XP_005268645.1:p.Arg529His, XP_005268647.1:p.Arg492His, NP_008938.2:p.Arg491His, NP_001287876.1:p.Arg528His, XP_047284088.1:p.Arg529His

Select item 145369613918.

rs1453696139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:69253068 (GRCh38)
12:69646848 (GRCh37)
Canonical SPDI:: NC_000012.12:69253067:C:G
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.69253068C>G, NC_000012.11:g.69646848C>G, XM_005268588.4:c.288C>G, XM_005268588.3:c.288C>G, XM_005268588.2:c.288C>G, XM_005268588.1:c.288C>G, XM_005268590.4:c.288C>G, XM_005268590.3:c.288C>G, XM_005268590.2:c.288C>G, XM_005268590.1:c.288C>G, NM_007007.3:c.288C>G, NM_007007.2:c.288C>G, NM_001300947.2:c.288C>G, NM_001300947.1:c.288C>G, XM_047428132.1:c.288C>G, XP_005268645.1:p.Asp96Glu, XP_005268647.1:p.Asp96Glu, NP_008938.2:p.Asp96Glu, NP_001287876.1:p.Asp96Glu, XP_047284088.1:p.Asp96Glu

Select item 145258153019.

rs1452581530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:69256784 (GRCh38)
12:69650564 (GRCh37)
Canonical SPDI:: NC_000012.12:69256783:T:C
Gene:: CPSF6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69256784T>C, NC_000012.11:g.69650564T>C, XM_005268588.4:c.462T>C, XM_005268588.3:c.462T>C, XM_005268588.2:c.462T>C, XM_005268588.1:c.462T>C, XM_005268590.4:c.462T>C, XM_005268590.3:c.462T>C, XM_005268590.2:c.462T>C, XM_005268590.1:c.462T>C, NM_007007.3:c.462T>C, NM_007007.2:c.462T>C, NM_001300947.2:c.462T>C, NM_001300947.1:c.462T>C, XM_047428132.1:c.462T>C

Select item 145158213620.

rs1451582136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:69258710 (GRCh38)
12:69652490 (GRCh37)
Canonical SPDI:: NC_000012.12:69258709:G:A
Gene:: CPSF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.69258710G>A, NC_000012.11:g.69652490G>A, XM_005268588.4:c.926G>A, XM_005268588.3:c.926G>A, XM_005268588.2:c.926G>A, XM_005268588.1:c.926G>A, XM_005268590.4:c.815G>A, XM_005268590.3:c.815G>A, XM_005268590.2:c.815G>A, XM_005268590.1:c.815G>A, NM_007007.3:c.815G>A, NM_007007.2:c.815G>A, NM_001300947.2:c.926G>A, NM_001300947.1:c.926G>A, XM_047428132.1:c.926G>A, XP_005268645.1:p.Arg309His, XP_005268647.1:p.Arg272His, NP_008938.2:p.Arg272His, NP_001287876.1:p.Arg309His, XP_047284088.1:p.Arg309His

dbSNP

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