SNP Links for Protein (Select 385731627) - SNP

Links from Protein

Items: 1 to 20 of 187

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Select item 14697374261.

rs1469737426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3755587 (GRCh38)
20:3736234 (GRCh37)
Canonical SPDI:: NC_000020.11:3755586:C:T
Gene:: C20orf27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3755587C>T, NC_000020.10:g.3736234C>T, XM_011529266.4:c.258G>A, XM_011529266.3:c.258G>A, XM_011529266.2:c.258G>A, XM_011529266.1:c.258G>A, NM_001039140.3:c.258G>A, NM_001039140.2:c.258G>A, NM_017874.2:c.-1378G>A, NM_001258430.2:c.183G>A, NM_001258430.1:c.183G>A, NR_047675.2:n.556G>A, NR_047675.1:n.556G>A, NM_001258429.2:c.183G>A, NM_001258429.1:c.183G>A, NM_017874.1:c.183G>A, XM_047440245.1:c.183G>A

Select item 14678875762.

rs1467887576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3758665 (GRCh38)
20:3739312 (GRCh37)
Canonical SPDI:: NC_000020.11:3758664:T:C
Gene:: C20orf27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3758665T>C, NC_000020.10:g.3739312T>C, XM_011529266.4:c.108A>G, XM_011529266.3:c.108A>G, XM_011529266.2:c.108A>G, XM_011529266.1:c.108A>G, NM_001039140.3:c.108A>G, NM_001039140.2:c.108A>G, NM_017874.2:c.-1528A>G, NM_001258430.2:c.33A>G, NM_001258430.1:c.33A>G, NR_047675.2:n.406A>G, NR_047675.1:n.406A>G, NM_001258429.2:c.33A>G, NM_001258429.1:c.33A>G, NM_017874.1:c.33A>G, XM_047440245.1:c.33A>G

Select item 14644334893.

rs1464433489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3758604 (GRCh38)
20:3739251 (GRCh37)
Canonical SPDI:: NC_000020.11:3758603:A:G
Gene:: C20orf27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3758604A>G, NC_000020.10:g.3739251A>G, XM_011529266.4:c.169T>C, XM_011529266.3:c.169T>C, XM_011529266.2:c.169T>C, XM_011529266.1:c.169T>C, NM_001039140.3:c.169T>C, NM_001039140.2:c.169T>C, NM_017874.2:c.-1467T>C, NM_001258430.2:c.94T>C, NM_001258430.1:c.94T>C, NR_047675.2:n.467T>C, NR_047675.1:n.467T>C, NM_001258429.2:c.94T>C, NM_001258429.1:c.94T>C, NM_017874.1:c.94T>C, XM_047440245.1:c.94T>C, XP_011527568.1:p.Phe57Leu, NP_001034229.1:p.Phe57Leu, NP_001245359.1:p.Phe32Leu, NP_001245358.1:p.Phe32Leu, XP_047296201.1:p.Phe32Leu

Select item 14540445754.

rs1454044575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:3754455 (GRCh38)
20:3735102 (GRCh37)
Canonical SPDI:: NC_000020.11:3754454:T:A
Gene:: C20orf27 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3754455T>A, NC_000020.10:g.3735102T>A, NM_001039140.3:c.441A>T, NM_001039140.2:c.441A>T, NM_017874.2:c.-246A>T, NM_001258430.2:c.366A>T, NM_001258430.1:c.366A>T, NR_047675.2:n.739A>T, NR_047675.1:n.739A>T, NM_001258429.2:c.366A>T, NM_001258429.1:c.366A>T, NM_017874.1:c.366A>T

Select item 14520433785.

rs1452043378 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:3754059 (GRCh38)
20:3734706 (GRCh37)
Canonical SPDI:: NC_000020.11:3754058:CA:
Gene:: C20orf27 (Varview)
Functional Consequence:: terminator_codon_variant,frameshift_variant,non_coding_transcript_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3754059_3754060del, NC_000020.10:g.3734706_3734707del, XM_011529266.4:c.475_476del, XM_011529266.3:c.475_476del, XM_011529266.2:c.475_476del, XM_011529266.1:c.475_476del, NM_001039140.3:c.598_599del, NM_001039140.2:c.598_599del, NM_017874.2:c.150_151del, NM_001258430.2:c.523_524del, NM_001258430.1:c.523_524del, NR_047675.2:n.896_897del, NR_047675.1:n.896_897del, NM_001258429.2:c.523_524del, NM_001258429.1:c.523_524del, NM_017874.1:c.523_524del, XM_047440245.1:c.400_401del, XP_011527568.1:p.Ter159ArgextTer?, NP_001034229.1:p.Ter200ArgextTer?, NP_001245359.1:p.Ter175ArgextTer?, NP_001245358.1:p.Ter175ArgextTer?, XP_047296201.1:p.Ter134ArgextTer?

Select item 14409810776.

rs1440981077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:3755480 (GRCh38)
20:3736127 (GRCh37)
Canonical SPDI:: NC_000020.11:3755479:G:T
Gene:: C20orf27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.3755480G>T, NC_000020.10:g.3736127G>T, XM_011529266.4:c.365C>A, XM_011529266.3:c.365C>A, XM_011529266.2:c.365C>A, XM_011529266.1:c.365C>A, NM_001039140.3:c.365C>A, NM_001039140.2:c.365C>A, NM_017874.2:c.-1271C>A, NM_001258430.2:c.290C>A, NM_001258430.1:c.290C>A, NR_047675.2:n.663C>A, NR_047675.1:n.663C>A, NM_001258429.2:c.290C>A, NM_001258429.1:c.290C>A, NM_017874.1:c.290C>A, XM_047440245.1:c.290C>A, XP_011527568.1:p.Pro122His, NP_001034229.1:p.Pro122His, NP_001245359.1:p.Pro97His, NP_001245358.1:p.Pro97His, XP_047296201.1:p.Pro97His

Select item 14381412907.

rs1438141290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3755535 (GRCh38)
20:3736182 (GRCh37)
Canonical SPDI:: NC_000020.11:3755534:C:T
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.3755535C>T, NC_000020.10:g.3736182C>T, XM_011529266.4:c.310G>A, XM_011529266.3:c.310G>A, XM_011529266.2:c.310G>A, XM_011529266.1:c.310G>A, NM_001039140.3:c.310G>A, NM_001039140.2:c.310G>A, NM_017874.2:c.-1326G>A, NM_001258430.2:c.235G>A, NM_001258430.1:c.235G>A, NR_047675.2:n.608G>A, NR_047675.1:n.608G>A, NM_001258429.2:c.235G>A, NM_001258429.1:c.235G>A, NM_017874.1:c.235G>A, XM_047440245.1:c.235G>A, XP_011527568.1:p.Asp104Asn, NP_001034229.1:p.Asp104Asn, NP_001245359.1:p.Asp79Asn, NP_001245358.1:p.Asp79Asn, XP_047296201.1:p.Asp79Asn

Select item 14320205758.

rs1432020575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3754138 (GRCh38)
20:3734785 (GRCh37)
Canonical SPDI:: NC_000020.11:3754137:T:C
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3754138T>C, NC_000020.10:g.3734785T>C, XM_011529266.4:c.397A>G, XM_011529266.3:c.397A>G, XM_011529266.2:c.397A>G, XM_011529266.1:c.397A>G, NM_001039140.3:c.520A>G, NM_001039140.2:c.520A>G, NM_017874.2:c.72A>G, NM_001258430.2:c.445A>G, NM_001258430.1:c.445A>G, NR_047675.2:n.818A>G, NR_047675.1:n.818A>G, NM_001258429.2:c.445A>G, NM_001258429.1:c.445A>G, NM_017874.1:c.445A>G, XM_047440245.1:c.322A>G, XP_011527568.1:p.Met133Val, NP_001034229.1:p.Met174Val, NP_001245359.1:p.Met149Val, NP_001245358.1:p.Met149Val, XP_047296201.1:p.Met108Val

Select item 14303005699.

rs1430300569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:3754451 (GRCh38)
20:3735098 (GRCh37)
Canonical SPDI:: NC_000020.11:3754450:A:T
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_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_000020.11:g.3754451A>T, NC_000020.10:g.3735098A>T, NM_001039140.3:c.445T>A, NM_001039140.2:c.445T>A, NM_017874.2:c.-242T>A, NM_001258430.2:c.370T>A, NM_001258430.1:c.370T>A, NR_047675.2:n.743T>A, NR_047675.1:n.743T>A, NM_001258429.2:c.370T>A, NM_001258429.1:c.370T>A, NM_017874.1:c.370T>A, NP_001034229.1:p.Cys149Ser, NP_001245359.1:p.Cys124Ser, NP_001245358.1:p.Cys124Ser

Select item 142464046410.

rs1424640464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3758574 (GRCh38)
20:3739221 (GRCh37)
Canonical SPDI:: NC_000020.11:3758573:T:C
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
HGVS:: NC_000020.11:g.3758574T>C, NC_000020.10:g.3739221T>C, XM_011529266.4:c.199A>G, XM_011529266.3:c.199A>G, XM_011529266.2:c.199A>G, XM_011529266.1:c.199A>G, NM_001039140.3:c.199A>G, NM_001039140.2:c.199A>G, NM_017874.2:c.-1437A>G, NM_001258430.2:c.124A>G, NM_001258430.1:c.124A>G, NR_047675.2:n.497A>G, NR_047675.1:n.497A>G, NM_001258429.2:c.124A>G, NM_001258429.1:c.124A>G, NM_017874.1:c.124A>G, XM_047440245.1:c.124A>G, XP_011527568.1:p.Met67Val, NP_001034229.1:p.Met67Val, NP_001245359.1:p.Met42Val, NP_001245358.1:p.Met42Val, XP_047296201.1:p.Met42Val

Select item 141234815611.

rs1412348156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3758664 (GRCh38)
20:3739311 (GRCh37)
Canonical SPDI:: NC_000020.11:3758663:C:T
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3758664C>T, NC_000020.10:g.3739311C>T, XM_011529266.4:c.109G>A, XM_011529266.3:c.109G>A, XM_011529266.2:c.109G>A, XM_011529266.1:c.109G>A, NM_001039140.3:c.109G>A, NM_001039140.2:c.109G>A, NM_017874.2:c.-1527G>A, NM_001258430.2:c.34G>A, NM_001258430.1:c.34G>A, NR_047675.2:n.407G>A, NR_047675.1:n.407G>A, NM_001258429.2:c.34G>A, NM_001258429.1:c.34G>A, NM_017874.1:c.34G>A, XM_047440245.1:c.34G>A, XP_011527568.1:p.Val37Ile, NP_001034229.1:p.Val37Ile, NP_001245359.1:p.Val12Ile, NP_001245358.1:p.Val12Ile, XP_047296201.1:p.Val12Ile

Select item 140142102112.

rs1401421021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3754425 (GRCh38)
20:3735072 (GRCh37)
Canonical SPDI:: NC_000020.11:3754424:C:T
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.3754425C>T, NC_000020.10:g.3735072C>T, NM_001039140.3:c.471G>A, NM_001039140.2:c.471G>A, NM_017874.2:c.-216G>A, NM_001258430.2:c.396G>A, NM_001258430.1:c.396G>A, NR_047675.2:n.769G>A, NR_047675.1:n.769G>A, NM_001258429.2:c.396G>A, NM_001258429.1:c.396G>A, NM_017874.1:c.396G>A

Select item 140101450813.

rs1401014508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3758667 (GRCh38)
20:3739314 (GRCh37)
Canonical SPDI:: NC_000020.11:3758666:T:C
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.3758667T>C, NC_000020.10:g.3739314T>C, XM_011529266.4:c.106A>G, XM_011529266.3:c.106A>G, XM_011529266.2:c.106A>G, XM_011529266.1:c.106A>G, NM_001039140.3:c.106A>G, NM_001039140.2:c.106A>G, NM_017874.2:c.-1530A>G, NM_001258430.2:c.31A>G, NM_001258430.1:c.31A>G, NR_047675.2:n.404A>G, NR_047675.1:n.404A>G, NM_001258429.2:c.31A>G, NM_001258429.1:c.31A>G, NM_017874.1:c.31A>G, XM_047440245.1:c.31A>G, XP_011527568.1:p.Arg36Gly, NP_001034229.1:p.Arg36Gly, NP_001245359.1:p.Arg11Gly, NP_001245358.1:p.Arg11Gly, XP_047296201.1:p.Arg11Gly

Select item 139867921514.

rs1398679215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:3754079 (GRCh38)
20:3734726 (GRCh37)
Canonical SPDI:: NC_000020.11:3754078:G:A,NC_000020.11:3754078:G:C
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.3754079G>A, NC_000020.11:g.3754079G>C, NC_000020.10:g.3734726G>A, NC_000020.10:g.3734726G>C, XM_011529266.4:c.456C>T, XM_011529266.4:c.456C>G, XM_011529266.3:c.456C>T, XM_011529266.3:c.456C>G, XM_011529266.2:c.456C>T, XM_011529266.2:c.456C>G, XM_011529266.1:c.456C>T, XM_011529266.1:c.456C>G, NM_001039140.3:c.579C>T, NM_001039140.3:c.579C>G, NM_001039140.2:c.579C>T, NM_001039140.2:c.579C>G, NM_017874.2:c.131C>T, NM_017874.2:c.131C>G, NM_001258430.2:c.504C>T, NM_001258430.2:c.504C>G, NM_001258430.1:c.504C>T, NM_001258430.1:c.504C>G, NR_047675.2:n.877C>T, NR_047675.2:n.877C>G, NR_047675.1:n.877C>T, NR_047675.1:n.877C>G, NM_001258429.2:c.504C>T, NM_001258429.2:c.504C>G, NM_001258429.1:c.504C>T, NM_001258429.1:c.504C>G, NM_017874.1:c.504C>T, NM_017874.1:c.504C>G, XM_047440245.1:c.381C>T, XM_047440245.1:c.381C>G, XP_011527568.1:p.Ser152Arg, NP_001034229.1:p.Ser193Arg, NP_001245359.1:p.Ser168Arg, NP_001245358.1:p.Ser168Arg, XP_047296201.1:p.Ser127Arg

Select item 139714957515.

rs1397149575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:3755548 (GRCh38)
20:3736195 (GRCh37)
Canonical SPDI:: NC_000020.11:3755547:G:C
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000020.11:g.3755548G>C, NC_000020.10:g.3736195G>C, XM_011529266.4:c.297C>G, XM_011529266.3:c.297C>G, XM_011529266.2:c.297C>G, XM_011529266.1:c.297C>G, NM_001039140.3:c.297C>G, NM_001039140.2:c.297C>G, NM_017874.2:c.-1339C>G, NM_001258430.2:c.222C>G, NM_001258430.1:c.222C>G, NR_047675.2:n.595C>G, NR_047675.1:n.595C>G, NM_001258429.2:c.222C>G, NM_001258429.1:c.222C>G, NM_017874.1:c.222C>G, XM_047440245.1:c.222C>G, XP_011527568.1:p.His99Gln, NP_001034229.1:p.His99Gln, NP_001245359.1:p.His74Gln, NP_001245358.1:p.His74Gln, XP_047296201.1:p.His74Gln

Select item 139119612016.

rs1391196120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3754123 (GRCh38)
20:3734770 (GRCh37)
Canonical SPDI:: NC_000020.11:3754122:C:T
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3754123C>T, NC_000020.10:g.3734770C>T, XM_011529266.4:c.412G>A, XM_011529266.3:c.412G>A, XM_011529266.2:c.412G>A, XM_011529266.1:c.412G>A, NM_001039140.3:c.535G>A, NM_001039140.2:c.535G>A, NM_017874.2:c.87G>A, NM_001258430.2:c.460G>A, NM_001258430.1:c.460G>A, NR_047675.2:n.833G>A, NR_047675.1:n.833G>A, NM_001258429.2:c.460G>A, NM_001258429.1:c.460G>A, NM_017874.1:c.460G>A, XM_047440245.1:c.337G>A, XP_011527568.1:p.Val138Ile, NP_001034229.1:p.Val179Ile, NP_001245359.1:p.Val154Ile, NP_001245358.1:p.Val154Ile, XP_047296201.1:p.Val113Ile

Select item 138741288817.

rs1387412888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3755584 (GRCh38)
20:3736231 (GRCh37)
Canonical SPDI:: NC_000020.11:3755583:G:A
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3755584G>A, NC_000020.10:g.3736231G>A, XM_011529266.4:c.261C>T, XM_011529266.3:c.261C>T, XM_011529266.2:c.261C>T, XM_011529266.1:c.261C>T, NM_001039140.3:c.261C>T, NM_001039140.2:c.261C>T, NM_017874.2:c.-1375C>T, NM_001258430.2:c.186C>T, NM_001258430.1:c.186C>T, NR_047675.2:n.559C>T, NR_047675.1:n.559C>T, NM_001258429.2:c.186C>T, NM_001258429.1:c.186C>T, NM_017874.1:c.186C>T, XM_047440245.1:c.186C>T

Select item 137585082718.

rs1375850827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3755555 (GRCh38)
20:3736202 (GRCh37)
Canonical SPDI:: NC_000020.11:3755554:G:A
Gene:: C20orf27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3755555G>A, NC_000020.10:g.3736202G>A, XM_011529266.4:c.290C>T, XM_011529266.3:c.290C>T, XM_011529266.2:c.290C>T, XM_011529266.1:c.290C>T, NM_001039140.3:c.290C>T, NM_001039140.2:c.290C>T, NM_017874.2:c.-1346C>T, NM_001258430.2:c.215C>T, NM_001258430.1:c.215C>T, NR_047675.2:n.588C>T, NR_047675.1:n.588C>T, NM_001258429.2:c.215C>T, NM_001258429.1:c.215C>T, NM_017874.1:c.215C>T, XM_047440245.1:c.215C>T, XP_011527568.1:p.Pro97Leu, NP_001034229.1:p.Pro97Leu, NP_001245359.1:p.Pro72Leu, NP_001245358.1:p.Pro72Leu, XP_047296201.1:p.Pro72Leu

Select item 136018350819.

rs1360183508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3754146 (GRCh38)
20:3734793 (GRCh37)
Canonical SPDI:: NC_000020.11:3754145:C:T
Gene:: C20orf27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.3754146C>T, NC_000020.10:g.3734793C>T, XM_011529266.4:c.389G>A, XM_011529266.3:c.389G>A, XM_011529266.2:c.389G>A, XM_011529266.1:c.389G>A, NM_001039140.3:c.512G>A, NM_001039140.2:c.512G>A, NM_017874.2:c.64G>A, NM_001258430.2:c.437G>A, NM_001258430.1:c.437G>A, NR_047675.2:n.810G>A, NR_047675.1:n.810G>A, NM_001258429.2:c.437G>A, NM_001258429.1:c.437G>A, NM_017874.1:c.437G>A, XM_047440245.1:c.314G>A, XP_011527568.1:p.Gly130Asp, NP_001034229.1:p.Gly171Asp, NP_001245359.1:p.Gly146Asp, NP_001245358.1:p.Gly146Asp, XP_047296201.1:p.Gly105Asp

Select item 135495575220.

rs1354955752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:3758542 (GRCh38)
20:3739189 (GRCh37)
Canonical SPDI:: NC_000020.11:3758541:C:A,NC_000020.11:3758541:C:G
Gene:: C20orf27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3758542C>A, NC_000020.11:g.3758542C>G, NC_000020.10:g.3739189C>A, NC_000020.10:g.3739189C>G, XM_011529266.4:c.231G>T, XM_011529266.4:c.231G>C, XM_011529266.3:c.231G>T, XM_011529266.3:c.231G>C, XM_011529266.2:c.231G>T, XM_011529266.2:c.231G>C, XM_011529266.1:c.231G>T, XM_011529266.1:c.231G>C, NM_001039140.3:c.231G>T, NM_001039140.3:c.231G>C, NM_001039140.2:c.231G>T, NM_001039140.2:c.231G>C, NM_017874.2:c.-1405G>T, NM_017874.2:c.-1405G>C, NM_001258430.2:c.156G>T, NM_001258430.2:c.156G>C, NM_001258430.1:c.156G>T, NM_001258430.1:c.156G>C, NR_047675.2:n.529G>T, NR_047675.2:n.529G>C, NR_047675.1:n.529G>T, NR_047675.1:n.529G>C, NM_001258429.2:c.156G>T, NM_001258429.2:c.156G>C, NM_001258429.1:c.156G>T, NM_001258429.1:c.156G>C, NM_017874.1:c.156G>T, NM_017874.1:c.156G>C, XM_047440245.1:c.156G>T, XM_047440245.1:c.156G>C

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