SNP Links for Protein (Select 7706427) - SNP

Links from Protein

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Select item 14894435671.

rs1489443567 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:9433882 (GRCh38)
2:9574011 (GRCh37)
Canonical SPDI:: NC_000002.12:9433881:T:
Gene:: CPSF3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9433882del, NC_000002.11:g.9574011del, NM_016207.4:c.531del, NM_016207.3:c.531del, NM_001321834.2:c.420del, NM_001321834.1:c.420del, NM_001321836.2:c.543del, NM_001321836.1:c.543del, NM_001321833.2:c.420del, NM_001321833.1:c.420del, NM_001321835.2:c.114del, NM_001321835.1:c.114del, XM_047444745.1:c.501del, NP_057291.1:p.Gly178fs, NP_001308763.1:p.Gly141fs, NP_001308765.1:p.Gly182fs, NP_001308762.1:p.Gly141fs, NP_001308764.1:p.Gly39fs, XP_047300701.1:p.Gly168fs

Select item 14884622632.

rs1488462263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:9440543 (GRCh38)
2:9580672 (GRCh37)
Canonical SPDI:: NC_000002.12:9440542:A:C
Gene:: CPSF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9440543A>C, NC_000002.11:g.9580672A>C, NM_016207.4:c.813A>C, NM_016207.3:c.813A>C, NM_001321834.2:c.702A>C, NM_001321834.1:c.702A>C, NM_001321836.2:c.825A>C, NM_001321836.1:c.825A>C, NM_001321833.2:c.702A>C, NM_001321833.1:c.702A>C, NM_001321835.2:c.396A>C, NM_001321835.1:c.396A>C, XM_047444745.1:c.783A>C

Select item 14868675253.

rs1486867525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:9456990 (GRCh38)
2:9597119 (GRCh37)
Canonical SPDI:: NC_000002.12:9456989:T:C
Gene:: CPSF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.9456990T>C, NC_000002.11:g.9597119T>C, NM_016207.4:c.1661T>C, NM_016207.3:c.1661T>C, NM_001321834.2:c.1550T>C, NM_001321834.1:c.1550T>C, NM_001321836.2:c.1673T>C, NM_001321836.1:c.1673T>C, NM_001321833.2:c.1550T>C, NM_001321833.1:c.1550T>C, NM_001321835.2:c.1244T>C, NM_001321835.1:c.1244T>C, XM_047444745.1:c.1631T>C, NP_057291.1:p.Ile554Thr, NP_001308763.1:p.Ile517Thr, NP_001308765.1:p.Ile558Thr, NP_001308762.1:p.Ile517Thr, NP_001308764.1:p.Ile415Thr, XP_047300701.1:p.Ile544Thr

Select item 14868243724.

rs1486824372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:9459600 (GRCh38)
2:9599729 (GRCh37)
Canonical SPDI:: NC_000002.12:9459599:A:T
Gene:: CPSF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.9459600A>T, NC_000002.11:g.9599729A>T, NM_016207.4:c.1768A>T, NM_016207.3:c.1768A>T, NM_001321834.2:c.1657A>T, NM_001321834.1:c.1657A>T, NM_001321836.2:c.1780A>T, NM_001321836.1:c.1780A>T, NM_001321833.2:c.1657A>T, NM_001321833.1:c.1657A>T, NM_001321835.2:c.1351A>T, NM_001321835.1:c.1351A>T, XM_047444745.1:c.1738A>T, NP_057291.1:p.Asn590Tyr, NP_001308763.1:p.Asn553Tyr, NP_001308765.1:p.Asn594Tyr, NP_001308762.1:p.Asn553Tyr, NP_001308764.1:p.Asn451Tyr, XP_047300701.1:p.Asn580Tyr

Select item 14806287125.

rs1480628712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:9423821 (GRCh38)
2:9563950 (GRCh37)
Canonical SPDI:: NC_000002.12:9423820:C:T
Gene:: ITGB1BP1 (Varview), CPSF3 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.9423821C>T, NC_000002.11:g.9563950C>T, NM_016207.4:c.48C>T, NM_016207.3:c.48C>T, NM_001321834.2:c.-1201C>T, NM_001321834.1:c.-1201C>T, NM_001321836.2:c.-260C>T, NM_001321836.1:c.-260C>T, NM_001321833.2:c.-293C>T, NM_001321833.1:c.-293C>T, NM_001321835.2:c.-242C>T, NM_001321835.1:c.-242C>T

Select item 14784204016.

rs1478420401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:9433898 (GRCh38)
2:9574027 (GRCh37)
Canonical SPDI:: NC_000002.12:9433897:C:A,NC_000002.12:9433897:C:T
Gene:: CPSF3 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.9433898C>A, NC_000002.12:g.9433898C>T, NC_000002.11:g.9574027C>A, NC_000002.11:g.9574027C>T, NM_016207.4:c.547C>A, NM_016207.4:c.547C>T, NM_016207.3:c.547C>A, NM_016207.3:c.547C>T, NM_001321834.2:c.436C>A, NM_001321834.2:c.436C>T, NM_001321834.1:c.436C>A, NM_001321834.1:c.436C>T, NM_001321836.2:c.559C>A, NM_001321836.2:c.559C>T, NM_001321836.1:c.559C>A, NM_001321836.1:c.559C>T, NM_001321833.2:c.436C>A, NM_001321833.2:c.436C>T, NM_001321833.1:c.436C>A, NM_001321833.1:c.436C>T, NM_001321835.2:c.130C>A, NM_001321835.2:c.130C>T, NM_001321835.1:c.130C>A, NM_001321835.1:c.130C>T, XM_047444745.1:c.517C>A, XM_047444745.1:c.517C>T, NP_057291.1:p.Gln183Lys, NP_057291.1:p.Gln183Ter, NP_001308763.1:p.Gln146Lys, NP_001308763.1:p.Gln146Ter, NP_001308765.1:p.Gln187Lys, NP_001308765.1:p.Gln187Ter, NP_001308762.1:p.Gln146Lys, NP_001308762.1:p.Gln146Ter, NP_001308764.1:p.Gln44Lys, NP_001308764.1:p.Gln44Ter, XP_047300701.1:p.Gln173Lys, XP_047300701.1:p.Gln173Ter

Select item 14774466447.

rs1477446644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:9430802 (GRCh38)
2:9570931 (GRCh37)
Canonical SPDI:: NC_000002.12:9430801:G:A
Gene:: CPSF3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9430802G>A, NC_000002.11:g.9570931G>A, NM_016207.4:c.263G>A, NM_016207.3:c.263G>A, NM_001321834.2:c.152G>A, NM_001321834.1:c.152G>A, NM_001321836.2:c.275G>A, NM_001321836.1:c.275G>A, NM_001321833.2:c.152G>A, NM_001321833.1:c.152G>A, NM_001321835.2:c.-27G>A, NM_001321835.1:c.-27G>A, XM_047444745.1:c.233G>A, NP_057291.1:p.Ser88Asn, NP_001308763.1:p.Ser51Asn, NP_001308765.1:p.Ser92Asn, NP_001308762.1:p.Ser51Asn, XP_047300701.1:p.Ser78Asn

Select item 14764615398.

rs1476461539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:9443540 (GRCh38)
2:9583669 (GRCh37)
Canonical SPDI:: NC_000002.12:9443539:T:G
Gene:: CPSF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9443540T>G, NC_000002.11:g.9583669T>G, NM_016207.4:c.1121T>G, NM_016207.3:c.1121T>G, NM_001321834.2:c.1010T>G, NM_001321834.1:c.1010T>G, NM_001321836.2:c.1133T>G, NM_001321836.1:c.1133T>G, NM_001321833.2:c.1010T>G, NM_001321833.1:c.1010T>G, NM_001321835.2:c.704T>G, NM_001321835.1:c.704T>G, XM_047444745.1:c.1091T>G, NP_057291.1:p.Ile374Ser, NP_001308763.1:p.Ile337Ser, NP_001308765.1:p.Ile378Ser, NP_001308762.1:p.Ile337Ser, NP_001308764.1:p.Ile235Ser, XP_047300701.1:p.Ile364Ser

Select item 14761501819.

rs1476150181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:9448301 (GRCh38)
2:9588430 (GRCh37)
Canonical SPDI:: NC_000002.12:9448300:G:A
Gene:: CPSF3 (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=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.9448301G>A, NC_000002.11:g.9588430G>A, NM_016207.4:c.1346G>A, NM_016207.3:c.1346G>A, NM_001321834.2:c.1235G>A, NM_001321834.1:c.1235G>A, NM_001321836.2:c.1358G>A, NM_001321836.1:c.1358G>A, NM_001321833.2:c.1235G>A, NM_001321833.1:c.1235G>A, NM_001321835.2:c.929G>A, NM_001321835.1:c.929G>A, XM_047444745.1:c.1316G>A, NP_057291.1:p.Arg449Gln, NP_001308763.1:p.Arg412Gln, NP_001308765.1:p.Arg453Gln, NP_001308762.1:p.Arg412Gln, NP_001308764.1:p.Arg310Gln, XP_047300701.1:p.Arg439Gln

Select item 147148549210.

rs1471485492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9443545 (GRCh38)
2:9583674 (GRCh37)
Canonical SPDI:: NC_000002.12:9443544:A:G
Gene:: CPSF3 (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_000002.12:g.9443545A>G, NC_000002.11:g.9583674A>G, NM_016207.4:c.1126A>G, NM_016207.3:c.1126A>G, NM_001321834.2:c.1015A>G, NM_001321834.1:c.1015A>G, NM_001321836.2:c.1138A>G, NM_001321836.1:c.1138A>G, NM_001321833.2:c.1015A>G, NM_001321833.1:c.1015A>G, NM_001321835.2:c.709A>G, NM_001321835.1:c.709A>G, XM_047444745.1:c.1096A>G, NP_057291.1:p.Thr376Ala, NP_001308763.1:p.Thr339Ala, NP_001308765.1:p.Thr380Ala, NP_001308762.1:p.Thr339Ala, NP_001308764.1:p.Thr237Ala, XP_047300701.1:p.Thr366Ala

Select item 147134972411.

rs1471349724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:9423786 (GRCh38)
2:9563915 (GRCh37)
Canonical SPDI:: NC_000002.12:9423785:C:T
Gene:: ITGB1BP1 (Varview), CPSF3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.9423786C>T, NC_000002.11:g.9563915C>T, NM_016207.4:c.13C>T, NM_016207.3:c.13C>T, NM_001321834.2:c.-1236C>T, NM_001321834.1:c.-1236C>T, NM_001321836.2:c.-295C>T, NM_001321836.1:c.-295C>T, NM_001321833.2:c.-328C>T, NM_001321833.1:c.-328C>T, NM_001321835.2:c.-277C>T, NM_001321835.1:c.-277C>T, NP_057291.1:p.Pro5Ser

Select item 146853822112.

rs1468538221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:9459589 (GRCh38)
2:9599718 (GRCh37)
Canonical SPDI:: NC_000002.12:9459588:A:C,NC_000002.12:9459588:A:G
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.9459589A>C, NC_000002.12:g.9459589A>G, NC_000002.11:g.9599718A>C, NC_000002.11:g.9599718A>G, NM_016207.4:c.1757A>C, NM_016207.4:c.1757A>G, NM_016207.3:c.1757A>C, NM_016207.3:c.1757A>G, NM_001321834.2:c.1646A>C, NM_001321834.2:c.1646A>G, NM_001321834.1:c.1646A>C, NM_001321834.1:c.1646A>G, NM_001321836.2:c.1769A>C, NM_001321836.2:c.1769A>G, NM_001321836.1:c.1769A>C, NM_001321836.1:c.1769A>G, NM_001321833.2:c.1646A>C, NM_001321833.2:c.1646A>G, NM_001321833.1:c.1646A>C, NM_001321833.1:c.1646A>G, NM_001321835.2:c.1340A>C, NM_001321835.2:c.1340A>G, NM_001321835.1:c.1340A>C, NM_001321835.1:c.1340A>G, XM_047444745.1:c.1727A>C, XM_047444745.1:c.1727A>G, NP_057291.1:p.Glu586Ala, NP_057291.1:p.Glu586Gly, NP_001308763.1:p.Glu549Ala, NP_001308763.1:p.Glu549Gly, NP_001308765.1:p.Glu590Ala, NP_001308765.1:p.Glu590Gly, NP_001308762.1:p.Glu549Ala, NP_001308762.1:p.Glu549Gly, NP_001308764.1:p.Glu447Ala, NP_001308764.1:p.Glu447Gly, XP_047300701.1:p.Glu576Ala, XP_047300701.1:p.Glu576Gly

Select item 146811514013.

rs1468115140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:9436218 (GRCh38)
2:9576347 (GRCh37)
Canonical SPDI:: NC_000002.12:9436217:C:G
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9436218C>G, NC_000002.11:g.9576347C>G, NM_016207.4:c.617C>G, NM_016207.3:c.617C>G, NM_001321834.2:c.506C>G, NM_001321834.1:c.506C>G, NM_001321836.2:c.629C>G, NM_001321836.1:c.629C>G, NM_001321833.2:c.506C>G, NM_001321833.1:c.506C>G, NM_001321835.2:c.200C>G, NM_001321835.1:c.200C>G, XM_047444745.1:c.587C>G, NP_057291.1:p.Thr206Ser, NP_001308763.1:p.Thr169Ser, NP_001308765.1:p.Thr210Ser, NP_001308762.1:p.Thr169Ser, NP_001308764.1:p.Thr67Ser, XP_047300701.1:p.Thr196Ser

Select item 146565730814.

rs1465657308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:9448346 (GRCh38)
2:9588475 (GRCh37)
Canonical SPDI:: NC_000002.12:9448345:C:T
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9448346C>T, NC_000002.11:g.9588475C>T, NM_016207.4:c.1391C>T, NM_016207.3:c.1391C>T, NM_001321834.2:c.1280C>T, NM_001321834.1:c.1280C>T, NM_001321836.2:c.1403C>T, NM_001321836.1:c.1403C>T, NM_001321833.2:c.1280C>T, NM_001321833.1:c.1280C>T, NM_001321835.2:c.974C>T, NM_001321835.1:c.974C>T, XM_047444745.1:c.1361C>T, NP_057291.1:p.Ala464Val, NP_001308763.1:p.Ala427Val, NP_001308765.1:p.Ala468Val, NP_001308762.1:p.Ala427Val, NP_001308764.1:p.Ala325Val, XP_047300701.1:p.Ala454Val

Select item 146248431915.

rs1462484319 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:9471384 (GRCh38)
2:9611513 (GRCh37)
Canonical SPDI:: NC_000002.12:9471381:CTCT:CT
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.9471382CT[1], NC_000002.11:g.9611511CT[1], NM_016207.4:c.1898_1899del, NM_016207.3:c.1898_1899del, NM_001321834.2:c.1787_1788del, NM_001321834.1:c.1787_1788del, NM_001321836.2:c.1910_1911del, NM_001321836.1:c.1910_1911del, NM_001321833.2:c.1787_1788del, NM_001321833.1:c.1787_1788del, NM_001321835.2:c.1481_1482del, NM_001321835.1:c.1481_1482del, XM_047444745.1:c.1868_1869del, NP_057291.1:p.Ser633fs, NP_001308763.1:p.Ser596fs, NP_001308765.1:p.Ser637fs, NP_001308762.1:p.Ser596fs, NP_001308764.1:p.Ser494fs, XP_047300701.1:p.Ser623fs

Select item 146064823016.

rs1460648230 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:9440548 (GRCh38)
2:9580677 (GRCh37)
Canonical SPDI:: NC_000002.12:9440546:TCT:T
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.9440548_9440549del, NC_000002.11:g.9580677_9580678del, NM_016207.4:c.818_819del, NM_016207.3:c.818_819del, NM_001321834.2:c.707_708del, NM_001321834.1:c.707_708del, NM_001321836.2:c.830_831del, NM_001321836.1:c.830_831del, NM_001321833.2:c.707_708del, NM_001321833.1:c.707_708del, NM_001321835.2:c.401_402del, NM_001321835.1:c.401_402del, XM_047444745.1:c.788_789del, NP_057291.1:p.Ser273fs, NP_001308763.1:p.Ser236fs, NP_001308765.1:p.Ser277fs, NP_001308762.1:p.Ser236fs, NP_001308764.1:p.Ser134fs, XP_047300701.1:p.Ser263fs

Select item 145873842317.

rs1458738423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:9432650 (GRCh38)
2:9572779 (GRCh37)
Canonical SPDI:: NC_000002.12:9432649:G:C
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.9432650G>C, NC_000002.11:g.9572779G>C, NM_016207.4:c.481G>C, NM_016207.3:c.481G>C, NM_001321834.2:c.370G>C, NM_001321834.1:c.370G>C, NM_001321836.2:c.493G>C, NM_001321836.1:c.493G>C, NM_001321833.2:c.370G>C, NM_001321833.1:c.370G>C, NM_001321835.2:c.64G>C, NM_001321835.1:c.64G>C, XM_047444745.1:c.451G>C, NP_057291.1:p.Gly161Arg, NP_001308763.1:p.Gly124Arg, NP_001308765.1:p.Gly165Arg, NP_001308762.1:p.Gly124Arg, NP_001308764.1:p.Gly22Arg, XP_047300701.1:p.Gly151Arg

Select item 145760124418.

rs1457601244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:9452937 (GRCh38)
2:9593066 (GRCh37)
Canonical SPDI:: NC_000002.12:9452936:A:G
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.9452937A>G, NC_000002.11:g.9593066A>G, NM_016207.4:c.1420A>G, NM_016207.3:c.1420A>G, NM_001321834.2:c.1309A>G, NM_001321834.1:c.1309A>G, NM_001321836.2:c.1432A>G, NM_001321836.1:c.1432A>G, NM_001321833.2:c.1309A>G, NM_001321833.1:c.1309A>G, NM_001321835.2:c.1003A>G, NM_001321835.1:c.1003A>G, XM_047444745.1:c.1390A>G, NP_057291.1:p.Lys474Glu, NP_001308763.1:p.Lys437Glu, NP_001308765.1:p.Lys478Glu, NP_001308762.1:p.Lys437Glu, NP_001308764.1:p.Lys335Glu, XP_047300701.1:p.Lys464Glu

Select item 145625663019.

rs1456256630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:9471430 (GRCh38)
2:9611559 (GRCh37)
Canonical SPDI:: NC_000002.12:9471429:G:A
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.9471430G>A, NC_000002.11:g.9611559G>A, NM_016207.4:c.1944G>A, NM_016207.3:c.1944G>A, NM_001321834.2:c.1833G>A, NM_001321834.1:c.1833G>A, NM_001321836.2:c.1956G>A, NM_001321836.1:c.1956G>A, NM_001321833.2:c.1833G>A, NM_001321833.1:c.1833G>A, NM_001321835.2:c.1527G>A, NM_001321835.1:c.1527G>A, XM_047444745.1:c.1914G>A

Select item 145589156820.

rs1455891568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:9453015 (GRCh38)
2:9593144 (GRCh37)
Canonical SPDI:: NC_000002.12:9453014:C:T
Gene:: CPSF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.9453015C>T, NC_000002.11:g.9593144C>T, NM_016207.4:c.1498C>T, NM_016207.3:c.1498C>T, NM_001321834.2:c.1387C>T, NM_001321834.1:c.1387C>T, NM_001321836.2:c.1510C>T, NM_001321836.1:c.1510C>T, NM_001321833.2:c.1387C>T, NM_001321833.1:c.1387C>T, NM_001321835.2:c.1081C>T, NM_001321835.1:c.1081C>T, XM_047444745.1:c.1468C>T

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