SNP Links for Protein (Select 25952102) - SNP

Links from Protein

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Select item 14869732261.

rs1486973226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:179243092 (GRCh38)
3:178960880 (GRCh37)
Canonical SPDI:: NC_000003.12:179243091:A:G
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.179243092A>G, NC_000003.11:g.178960880A>G, NM_171829.3:c.586T>C, NM_171829.2:c.586T>C, NM_014407.3:c.652T>C, NM_171828.3:c.646T>C, NM_171828.2:c.646T>C, NR_028135.2:n.1528T>C, NR_028135.1:n.1528T>C, NM_171830.2:c.640T>C, NM_171830.1:c.640T>C, NP_741980.1:p.Ser196Pro, NP_055222.3:p.Ser218Pro, NP_741979.1:p.Ser216Pro, NP_741981.1:p.Ser214Pro

Select item 14804787842.

rs1480478784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:179244642 (GRCh38)
3:178962430 (GRCh37)
Canonical SPDI:: NC_000003.12:179244641:G:A
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.179244642G>A, NC_000003.11:g.178962430G>A, NM_171829.3:c.246C>T, NM_171829.2:c.246C>T, NM_014407.3:c.312C>T, NM_171828.3:c.306C>T, NM_171828.2:c.306C>T, NR_028135.2:n.1188C>T, NR_028135.1:n.1188C>T, NM_001163677.2:c.306C>T, NM_001163677.1:c.306C>T, NM_171830.2:c.300C>T, NM_171830.1:c.300C>T

Select item 14786076713.

rs1478607671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:179250907 (GRCh38)
3:178968695 (GRCh37)
Canonical SPDI:: NC_000003.12:179250906:C:G
Gene:: KCNMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.179250907C>G, NC_000003.11:g.178968695C>G, NM_171829.3:c.30G>C, NM_171829.2:c.30G>C, NM_014407.3:c.96G>C, NM_171828.3:c.90G>C, NM_171828.2:c.90G>C, NR_028135.2:n.972G>C, NR_028135.1:n.972G>C, NM_001163677.2:c.90G>C, NM_001163677.1:c.90G>C, NM_171830.2:c.84G>C, NM_171830.1:c.84G>C, NP_741980.1:p.Lys10Asn, NP_055222.3:p.Lys32Asn, NP_741979.1:p.Lys30Asn, NP_001157149.1:p.Lys30Asn, NP_741981.1:p.Lys28Asn

Select item 14751646594.

rs1475164659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:179250903 (GRCh38)
3:178968691 (GRCh37)
Canonical SPDI:: NC_000003.12:179250902:C:A,NC_000003.12:179250902:C:G,NC_000003.12:179250902:C:T
Gene:: KCNMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.179250903C>A, NC_000003.12:g.179250903C>G, NC_000003.12:g.179250903C>T, NC_000003.11:g.178968691C>A, NC_000003.11:g.178968691C>G, NC_000003.11:g.178968691C>T, NM_171829.3:c.34G>T, NM_171829.3:c.34G>C, NM_171829.3:c.34G>A, NM_171829.2:c.34G>T, NM_171829.2:c.34G>C, NM_171829.2:c.34G>A, NM_014407.3:c.100G>T, NM_014407.3:c.100G>C, NM_014407.3:c.100G>A, NM_171828.3:c.94G>T, NM_171828.3:c.94G>C, NM_171828.3:c.94G>A, NM_171828.2:c.94G>T, NM_171828.2:c.94G>C, NM_171828.2:c.94G>A, NR_028135.2:n.976G>T, NR_028135.2:n.976G>C, NR_028135.2:n.976G>A, NR_028135.1:n.976G>T, NR_028135.1:n.976G>C, NR_028135.1:n.976G>A, NM_001163677.2:c.94G>T, NM_001163677.2:c.94G>C, NM_001163677.2:c.94G>A, NM_001163677.1:c.94G>T, NM_001163677.1:c.94G>C, NM_001163677.1:c.94G>A, NM_171830.2:c.88G>T, NM_171830.2:c.88G>C, NM_171830.2:c.88G>A, NM_171830.1:c.88G>T, NM_171830.1:c.88G>C, NM_171830.1:c.88G>A, NP_741980.1:p.Glu12Ter, NP_741980.1:p.Glu12Gln, NP_741980.1:p.Glu12Lys, NP_055222.3:p.Glu34Ter, NP_055222.3:p.Glu34Gln, NP_055222.3:p.Glu34Lys, NP_741979.1:p.Glu32Ter, NP_741979.1:p.Glu32Gln, NP_741979.1:p.Glu32Lys, NP_001157149.1:p.Glu32Ter, NP_001157149.1:p.Glu32Gln, NP_001157149.1:p.Glu32Lys, NP_741981.1:p.Glu30Ter, NP_741981.1:p.Glu30Gln, NP_741981.1:p.Glu30Lys

Select item 14747123305.

rs1474712330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:179243134 (GRCh38)
3:178960922 (GRCh37)
Canonical SPDI:: NC_000003.12:179243133:T:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.179243134T>C, NC_000003.11:g.178960922T>C, NM_171829.3:c.544A>G, NM_171829.2:c.544A>G, NM_014407.3:c.610A>G, NM_171828.3:c.604A>G, NM_171828.2:c.604A>G, NR_028135.2:n.1486A>G, NR_028135.1:n.1486A>G, NM_171830.2:c.598A>G, NM_171830.1:c.598A>G, NP_741980.1:p.Lys182Glu, NP_055222.3:p.Lys204Glu, NP_741979.1:p.Lys202Glu, NP_741981.1:p.Lys200Glu

Select item 14732503536.

rs1473250353 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:179244595 (GRCh38)
3:178962384 (GRCh37)
Canonical SPDI:: NC_000003.12:179244595:G:GG
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.179244596dup, NC_000003.11:g.178962384dup, NM_171829.3:c.292dup, NM_171829.2:c.292dup, NM_014407.3:c.358dup, NM_171828.3:c.352dup, NM_171828.2:c.352dup, NR_028135.2:n.1234dup, NR_028135.1:n.1234dup, NM_001163677.2:c.352dup, NM_001163677.1:c.352dup, NM_171830.2:c.346dup, NM_171830.1:c.346dup, NP_741980.1:p.Gln98fs, NP_055222.3:p.Gln120fs, NP_741979.1:p.Gln118fs, NP_001157149.1:p.Gln118fs, NP_741981.1:p.Gln116fs

Select item 14697879677.

rs1469787967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:179242982 (GRCh38)
3:178960770 (GRCh37)
Canonical SPDI:: NC_000003.12:179242981:T:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.179242982T>C, NC_000003.11:g.178960770T>C, NM_171829.3:c.696A>G, NM_171829.2:c.696A>G, NM_014407.3:c.762A>G, NM_171828.3:c.756A>G, NM_171828.2:c.756A>G, NR_028135.2:n.1638A>G, NR_028135.1:n.1638A>G, NM_171830.2:c.750A>G, NM_171830.1:c.750A>G

Select item 14547543728.

rs1454754372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:179250796 (GRCh38)
3:178968584 (GRCh37)
Canonical SPDI:: NC_000003.12:179250795:T:G
Gene:: KCNMB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.179250796T>G, NC_000003.11:g.178968584T>G, NM_171829.3:c.141A>C, NM_171829.2:c.141A>C, NM_014407.3:c.207A>C, NM_171828.3:c.201A>C, NM_171828.2:c.201A>C, NR_028135.2:n.1083A>C, NR_028135.1:n.1083A>C, NM_001163677.2:c.201A>C, NM_001163677.1:c.201A>C, NM_171830.2:c.195A>C, NM_171830.1:c.195A>C

Select item 14529451129.

rs1452945112 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:179244687 (GRCh38)
3:178962475 (GRCh37)
Canonical SPDI:: NC_000003.12:179244681:TCTCTCT:TCTCT
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.179244683CT[2], NC_000003.11:g.178962471CT[2], NM_171829.3:c.205_206del, NM_171829.2:c.205_206del, NM_014407.3:c.271_272del, NM_171828.3:c.265_266del, NM_171828.2:c.265_266del, NR_028135.2:n.1143GA[2], NR_028135.1:n.1143GA[2], NM_001163677.2:c.265_266del, NM_001163677.1:c.265_266del, NM_171830.2:c.259_260del, NM_171830.1:c.259_260del, NP_741980.1:p.Glu69fs, NP_055222.3:p.Glu91fs, NP_741979.1:p.Glu89fs, NP_001157149.1:p.Glu89fs, NP_741981.1:p.Glu87fs

Select item 145114302210.

rs1451143022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:179244649 (GRCh38)
3:178962437 (GRCh37)
Canonical SPDI:: NC_000003.12:179244648:A:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_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_000003.12:g.179244649A>C, NC_000003.11:g.178962437A>C, NM_171829.3:c.239T>G, NM_171829.2:c.239T>G, NM_014407.3:c.305T>G, NM_171828.3:c.299T>G, NM_171828.2:c.299T>G, NR_028135.2:n.1181T>G, NR_028135.1:n.1181T>G, NM_001163677.2:c.299T>G, NM_001163677.1:c.299T>G, NM_171830.2:c.293T>G, NM_171830.1:c.293T>G, NP_741980.1:p.Ile80Ser, NP_055222.3:p.Ile102Ser, NP_741979.1:p.Ile100Ser, NP_001157149.1:p.Ile100Ser, NP_741981.1:p.Ile98Ser

Select item 144476582111.

rs1444765821 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGG>- [Show Flanks]
Chromosome:: 3:179250753 (GRCh38)
3:178968541 (GRCh37)
Canonical SPDI:: NC_000003.12:179250752:AAGG:
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.179250753_179250756del, NC_000003.11:g.178968541_178968544del, NM_171829.3:c.181_184del, NM_171829.2:c.181_184del, NM_014407.3:c.247_250del, NM_171828.3:c.241_244del, NM_171828.2:c.241_244del, NR_028135.2:n.1123_1126del, NR_028135.1:n.1123_1126del, NM_001163677.2:c.241_244del, NM_001163677.1:c.241_244del, NM_171830.2:c.235_238del, NM_171830.1:c.235_238del, NP_741980.1:p.Pro61fs, NP_055222.3:p.Pro83fs, NP_741979.1:p.Pro81fs, NP_001157149.1:p.Pro81fs, NP_741981.1:p.Pro79fs

Select item 143370880612.

rs1433708806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:179243229 (GRCh38)
3:178961017 (GRCh37)
Canonical SPDI:: NC_000003.12:179243228:A:G
Gene:: KCNMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.179243229A>G, NC_000003.11:g.178961017A>G, NM_171829.3:c.449T>C, NM_171829.2:c.449T>C, NM_014407.3:c.515T>C, NM_171828.3:c.509T>C, NM_171828.2:c.509T>C, NR_028135.2:n.1391T>C, NR_028135.1:n.1391T>C, NM_171830.2:c.503T>C, NM_171830.1:c.503T>C, NP_741980.1:p.Leu150Pro, NP_055222.3:p.Leu172Pro, NP_741979.1:p.Leu170Pro, NP_741981.1:p.Leu168Pro

Select item 142979563313.

rs1429795633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:179242969 (GRCh38)
3:178960757 (GRCh37)
Canonical SPDI:: NC_000003.12:179242968:T:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.179242969T>C, NC_000003.11:g.178960757T>C, NM_171829.3:c.709A>G, NM_171829.2:c.709A>G, NM_014407.3:c.775A>G, NM_171828.3:c.769A>G, NM_171828.2:c.769A>G, NR_028135.2:n.1651A>G, NR_028135.1:n.1651A>G, NM_171830.2:c.763A>G, NM_171830.1:c.763A>G, NP_741980.1:p.Ile237Val, NP_055222.3:p.Ile259Val, NP_741979.1:p.Ile257Val, NP_741981.1:p.Ile255Val

Select item 142707965714.

rs1427079657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:179250925 (GRCh38)
3:178968713 (GRCh37)
Canonical SPDI:: NC_000003.12:179250924:A:G
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.002183/4 (Korea1K)
HGVS:: NC_000003.12:g.179250925A>G, NC_000003.11:g.178968713A>G, NM_171829.3:c.12T>C, NM_171829.2:c.12T>C, NM_014407.3:c.78T>C, NM_171828.3:c.72T>C, NM_171828.2:c.72T>C, NR_028135.2:n.954T>C, NR_028135.1:n.954T>C, NM_001163677.2:c.72T>C, NM_001163677.1:c.72T>C, NM_171830.2:c.66T>C, NM_171830.1:c.66T>C

Select item 142476400415.

rs1424764004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:179244617 (GRCh38)
3:178962405 (GRCh37)
Canonical SPDI:: NC_000003.12:179244616:A:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.179244617A>C, NC_000003.11:g.178962405A>C, NM_171829.3:c.271T>G, NM_171829.2:c.271T>G, NM_014407.3:c.337T>G, NM_171828.3:c.331T>G, NM_171828.2:c.331T>G, NR_028135.2:n.1213T>G, NR_028135.1:n.1213T>G, NM_001163677.2:c.331T>G, NM_001163677.1:c.331T>G, NM_171830.2:c.325T>G, NM_171830.1:c.325T>G, NP_741980.1:p.Cys91Gly, NP_055222.3:p.Cys113Gly, NP_741979.1:p.Cys111Gly, NP_001157149.1:p.Cys111Gly, NP_741981.1:p.Cys109Gly

Select item 142126297816.

rs1421262978 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 3:179243113 (GRCh38)
3:178960902 (GRCh37)
Canonical SPDI:: NC_000003.12:179243113:GAT:GATGAT
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATGAT=0.000071/1 (ALFA)
GAT=0.000014/2 (GnomAD)
GAT=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.179243114_179243116dup, NC_000003.11:g.178960902_178960904dup, NM_171829.3:c.562_564dup, NM_171829.2:c.562_564dup, NM_014407.3:c.628_630dup, NM_171828.3:c.622_624dup, NM_171828.2:c.622_624dup, NR_028135.2:n.1504_1506dup, NR_028135.1:n.1504_1506dup, NM_171830.2:c.616_618dup, NM_171830.1:c.616_618dup, NP_741980.1:p.Ile188dup, NP_055222.3:p.Ile210dup, NP_741979.1:p.Ile208dup, NP_741981.1:p.Ile206dup

Select item 141582314317.

rs1415823143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:179250902 (GRCh38)
3:178968690 (GRCh37)
Canonical SPDI:: NC_000003.12:179250901:T:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.179250902T>C, NC_000003.11:g.178968690T>C, NM_171829.3:c.35A>G, NM_171829.2:c.35A>G, NM_014407.3:c.101A>G, NM_171828.3:c.95A>G, NM_171828.2:c.95A>G, NR_028135.2:n.977A>G, NR_028135.1:n.977A>G, NM_001163677.2:c.95A>G, NM_001163677.1:c.95A>G, NM_171830.2:c.89A>G, NM_171830.1:c.89A>G, NP_741980.1:p.Glu12Gly, NP_055222.3:p.Glu34Gly, NP_741979.1:p.Glu32Gly, NP_001157149.1:p.Glu32Gly, NP_741981.1:p.Glu30Gly

Select item 141026372918.

rs1410263729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:179242947 (GRCh38)
3:178960735 (GRCh37)
Canonical SPDI:: NC_000003.12:179242946:A:G
Gene:: KCNMB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.179242947A>G, NC_000003.11:g.178960735A>G, NM_171829.3:c.731T>C, NM_171829.2:c.731T>C, NM_014407.3:c.797T>C, NM_171828.3:c.791T>C, NM_171828.2:c.791T>C, NR_028135.2:n.1673T>C, NR_028135.1:n.1673T>C, NM_171830.2:c.785T>C, NM_171830.1:c.785T>C, NP_741980.1:p.Leu244Pro, NP_055222.3:p.Leu266Pro, NP_741979.1:p.Leu264Pro, NP_741981.1:p.Leu262Pro

Select item 140853173719.

rs1408531737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:179250917 (GRCh38)
3:178968705 (GRCh37)
Canonical SPDI:: NC_000003.12:179250916:G:C
Gene:: KCNMB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.179250917G>C, NC_000003.11:g.178968705G>C, NM_171829.3:c.20C>G, NM_171829.2:c.20C>G, NM_014407.3:c.86C>G, NM_171828.3:c.80C>G, NM_171828.2:c.80C>G, NR_028135.2:n.962C>G, NR_028135.1:n.962C>G, NM_001163677.2:c.80C>G, NM_001163677.1:c.80C>G, NM_171830.2:c.74C>G, NM_171830.1:c.74C>G, NP_741980.1:p.Ser7Ter, NP_055222.3:p.Ser29Ter, NP_741979.1:p.Ser27Ter, NP_001157149.1:p.Ser27Ter, NP_741981.1:p.Ser25Ter

Select item 140755180320.

rs1407551803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:179250842 (GRCh38)
3:178968630 (GRCh37)
Canonical SPDI:: NC_000003.12:179250841:C:A
Gene:: KCNMB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.179250842C>A, NC_000003.11:g.178968630C>A, NM_171829.3:c.95G>T, NM_171829.2:c.95G>T, NM_014407.3:c.161G>T, NM_171828.3:c.155G>T, NM_171828.2:c.155G>T, NR_028135.2:n.1037G>T, NR_028135.1:n.1037G>T, NM_001163677.2:c.155G>T, NM_001163677.1:c.155G>T, NM_171830.2:c.149G>T, NM_171830.1:c.149G>T, NP_741980.1:p.Gly32Val, NP_055222.3:p.Gly54Val, NP_741979.1:p.Gly52Val, NP_001157149.1:p.Gly52Val, NP_741981.1:p.Gly50Val

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