SNP Links for Protein (Select 4503987) - SNP

Links from Protein

Items: 1 to 20 of 304

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Select item 14889452741.

rs1488945274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:63015452 (GRCh38)
8:63928011 (GRCh37)
Canonical SPDI:: NC_000008.11:63015451:A:G
Gene:: GGH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.63015452A>G, NC_000008.10:g.63928011A>G, NG_028126.1:g.28600T>C, NM_003878.3:c.837T>C, NM_003878.2:c.837T>C

Select item 14782498332.

rs1478249833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:63017623 (GRCh38)
8:63930182 (GRCh37)
Canonical SPDI:: NC_000008.11:63017622:C:T
Gene:: GGH (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.63017623C>T, NC_000008.10:g.63930182C>T, NG_028126.1:g.26429G>A, NM_003878.3:c.705G>A, NM_003878.2:c.705G>A

Select item 14634138523.

rs1463413852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:63035752 (GRCh38)
8:63948311 (GRCh37)
Canonical SPDI:: NC_000008.11:63035751:C:T
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.63035752C>T, NC_000008.10:g.63948311C>T, NG_028126.1:g.8300G>A, NM_003878.3:c.128G>A, NM_003878.2:c.128G>A, NM_001410926.1:c.128G>A, XM_011517623.4:c.128G>A, NP_003869.1:p.Cys43Tyr, XP_011515925.1:p.Cys43Tyr

Select item 14629187554.

rs1462918755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:63015382 (GRCh38)
8:63927941 (GRCh37)
Canonical SPDI:: NC_000008.11:63015381:T:C
Gene:: GGH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.63015382T>C, NC_000008.10:g.63927941T>C, NG_028126.1:g.28670A>G, NM_003878.3:c.907A>G, NM_003878.2:c.907A>G, NP_003869.1:p.Ile303Val

Select item 14623346595.

rs1462334659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:63035669 (GRCh38)
8:63948228 (GRCh37)
Canonical SPDI:: NC_000008.11:63035668:C:T
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.63035669C>T, NC_000008.10:g.63948228C>T, NG_028126.1:g.8383G>A, NM_003878.3:c.211G>A, NM_003878.2:c.211G>A, NM_001410926.1:c.211G>A, XM_011517623.4:c.211G>A, NP_003869.1:p.Val71Ile, XP_011515925.1:p.Val71Ile

Select item 14546241346.

rs1454624134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:63038676 (GRCh38)
8:63951235 (GRCh37)
Canonical SPDI:: NC_000008.11:63038675:G:A
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.63038676G>A, NC_000008.10:g.63951235G>A, NG_028126.1:g.5376C>T, NM_003878.3:c.93C>T, NM_003878.2:c.93C>T, NM_001410926.1:c.93C>T, XM_011517623.4:c.93C>T

Select item 14512228097.

rs1451222809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:63023953 (GRCh38)
8:63936512 (GRCh37)
Canonical SPDI:: NC_000008.11:63023952:T:C,NC_000008.11:63023952:T:G
Gene:: GGH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.63023953T>C, NC_000008.11:g.63023953T>G, NC_000008.10:g.63936512T>C, NC_000008.10:g.63936512T>G, NG_028126.1:g.20099A>G, NG_028126.1:g.20099A>C, NM_003878.3:c.651A>G, NM_003878.3:c.651A>C, NM_003878.2:c.651A>G, NM_003878.2:c.651A>C, NM_001410926.1:c.651A>G, NM_001410926.1:c.651A>C, XM_011517623.4:c.651A>G, XM_011517623.4:c.651A>C, NP_003869.1:p.Leu217Phe, XP_011515925.1:p.Leu217Phe

Select item 14481387728.

rs1448138772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:63015353 (GRCh38)
8:63927912 (GRCh37)
Canonical SPDI:: NC_000008.11:63015352:C:G
Gene:: GGH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.63015353C>G, NC_000008.10:g.63927912C>G, NG_028126.1:g.28699G>C, NM_003878.3:c.936G>C, NM_003878.2:c.936G>C, NP_003869.1:p.Gln312His

Select item 14478872829.

rs1447887282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:63017562 (GRCh38)
8:63930121 (GRCh37)
Canonical SPDI:: NC_000008.11:63017561:C:T
Gene:: GGH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.63017562C>T, NC_000008.10:g.63930121C>T, NG_028126.1:g.26490G>A, NM_003878.3:c.766G>A, NM_003878.2:c.766G>A, NP_003869.1:p.Asp256Asn

Select item 144735531210.

rs1447355312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:63030206 (GRCh38)
8:63942765 (GRCh37)
Canonical SPDI:: NC_000008.11:63030205:G:A
Gene:: GGH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.63030206G>A, NC_000008.10:g.63942765G>A, NG_028126.1:g.13846C>T, NM_003878.3:c.236C>T, NM_003878.2:c.236C>T, NM_001410926.1:c.236C>T, XM_011517623.4:c.236C>T, NP_003869.1:p.Thr79Ile, XP_011515925.1:p.Thr79Ile

Select item 144361194311.

rs1443611943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:63038754 (GRCh38)
8:63951313 (GRCh37)
Canonical SPDI:: NC_000008.11:63038753:G:A,NC_000008.11:63038753:G:C
Gene:: GGH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.63038754G>A, NC_000008.11:g.63038754G>C, NC_000008.10:g.63951313G>A, NC_000008.10:g.63951313G>C, NG_028126.1:g.5298C>T, NG_028126.1:g.5298C>G, NM_003878.3:c.15C>T, NM_003878.3:c.15C>G, NM_003878.2:c.15C>T, NM_003878.2:c.15C>G, NM_001410926.1:c.15C>T, NM_001410926.1:c.15C>G, XM_011517623.4:c.15C>T, XM_011517623.4:c.15C>G

Select item 143455525912.

rs1434555259 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:63030199 (GRCh38)
8:63942758 (GRCh37)
Canonical SPDI:: NC_000008.11:63030198:TTT:TT
Gene:: GGH (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.63030201del, NC_000008.10:g.63942760del, NG_028126.1:g.13853del, NM_003878.3:c.243del, NM_003878.2:c.243del, NM_001410926.1:c.243del, XM_011517623.4:c.243del, NP_003869.1:p.Asp82fs, XP_011515925.1:p.Asp82fs

Select item 142674943213.

rs1426749432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:63017567 (GRCh38)
8:63930126 (GRCh37)
Canonical SPDI:: NC_000008.11:63017566:T:C
Gene:: GGH (Varview)
Functional Consequence:: genic_downstream_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_000008.11:g.63017567T>C, NC_000008.10:g.63930126T>C, NG_028126.1:g.26485A>G, NM_003878.3:c.761A>G, NM_003878.2:c.761A>G, NP_003869.1:p.Asn254Ser

Select item 142313524514.

rs1423135245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:63024122 (GRCh38)
8:63936681 (GRCh37)
Canonical SPDI:: NC_000008.11:63024121:T:C,NC_000008.11:63024121:T:G
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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)
G=0.002183/4 (Korea1K)
HGVS:: NC_000008.11:g.63024122T>C, NC_000008.11:g.63024122T>G, NC_000008.10:g.63936681T>C, NC_000008.10:g.63936681T>G, NG_028126.1:g.19930A>G, NG_028126.1:g.19930A>C, NM_003878.3:c.564A>G, NM_003878.3:c.564A>C, NM_003878.2:c.564A>G, NM_003878.2:c.564A>C, NM_001410926.1:c.564A>G, NM_001410926.1:c.564A>C, XM_011517623.4:c.564A>G, XM_011517623.4:c.564A>C, NP_003869.1:p.Glu188Asp, XP_011515925.1:p.Glu188Asp

Select item 142223032515.

rs1422230325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:63038739 (GRCh38)
8:63951298 (GRCh37)
Canonical SPDI:: NC_000008.11:63038738:C:T
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000008.11:g.63038739C>T, NC_000008.10:g.63951298C>T, NG_028126.1:g.5313G>A, NM_003878.3:c.30G>A, NM_003878.2:c.30G>A, NM_001410926.1:c.30G>A, XM_011517623.4:c.30G>A

Select item 142212111816.

rs1422121118 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:63023980 (GRCh38)
8:63936539 (GRCh37)
Canonical SPDI:: NC_000008.11:63023977:TTTT:TT
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.63023980_63023981del, NC_000008.10:g.63936539_63936540del, NG_028126.1:g.20073_20074del, NM_003878.3:c.625_626del, NM_003878.2:c.625_626del, NM_001410926.1:c.625_626del, XM_011517623.4:c.625_626del, NP_003869.1:p.Lys209fs, XP_011515925.1:p.Lys209fs

Select item 141967910317.

rs1419679103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:63035680 (GRCh38)
8:63948239 (GRCh37)
Canonical SPDI:: NC_000008.11:63035679:G:A
Gene:: GGH (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=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.63035680G>A, NC_000008.10:g.63948239G>A, NG_028126.1:g.8372C>T, NM_003878.3:c.200C>T, NM_003878.2:c.200C>T, NM_001410926.1:c.200C>T, XM_011517623.4:c.200C>T, NP_003869.1:p.Ala67Val, XP_011515925.1:p.Ala67Val

Select item 141898319518.

rs1418983195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:63015404 (GRCh38)
8:63927963 (GRCh37)
Canonical SPDI:: NC_000008.11:63015403:T:C
Gene:: GGH (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.63015404T>C, NC_000008.10:g.63927963T>C, NG_028126.1:g.28648A>G, NM_003878.3:c.885A>G, NM_003878.2:c.885A>G

Select item 141857382119.

rs1418573821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:63038684 (GRCh38)
8:63951243 (GRCh37)
Canonical SPDI:: NC_000008.11:63038683:C:T
Gene:: GGH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.63038684C>T, NC_000008.10:g.63951243C>T, NG_028126.1:g.5368G>A, NM_003878.3:c.85G>A, NM_003878.2:c.85G>A, NM_001410926.1:c.85G>A, XM_011517623.4:c.85G>A, NP_003869.1:p.Asp29Asn, XP_011515925.1:p.Asp29Asn

Select item 141760809820.

rs1417608098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:63026259 (GRCh38)
8:63938818 (GRCh37)
Canonical SPDI:: NC_000008.11:63026258:G:A,NC_000008.11:63026258:G:C
Gene:: GGH (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=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.63026259G>A, NC_000008.11:g.63026259G>C, NC_000008.10:g.63938818G>A, NC_000008.10:g.63938818G>C, NG_028126.1:g.17793C>T, NG_028126.1:g.17793C>G, NM_003878.3:c.398C>T, NM_003878.3:c.398C>G, NM_003878.2:c.398C>T, NM_003878.2:c.398C>G, NM_001410926.1:c.398C>T, NM_001410926.1:c.398C>G, XM_011517623.4:c.398C>T, XM_011517623.4:c.398C>G, NP_003869.1:p.Thr133Ile, NP_003869.1:p.Thr133Arg, XP_011515925.1:p.Thr133Ile, XP_011515925.1:p.Thr133Arg

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