SNP Links for Protein (Select 663070917) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 688

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Select item 14890409151.

rs1489040915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:76353138 (GRCh38)
5:75648963 (GRCh37)
Canonical SPDI:: NC_000005.10:76353137:T:A
Gene:: SV2C (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000005.10:g.76353138T>A, NC_000005.9:g.75648963T>A, NM_001297716.2:c.2009T>A, NM_001297716.1:c.2009T>A, NP_001284645.1:p.Val670Asp

Select item 14888134602.

rs1488813460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:76295901 (GRCh38)
5:75591726 (GRCh37)
Canonical SPDI:: NC_000005.10:76295900:G:A
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.76295901G>A, NC_000005.9:g.75591726G>A, NG_083740.1:g.987G>A, XM_011543282.4:c.1461G>A, XM_011543282.3:c.1461G>A, XM_011543282.2:c.1461G>A, XM_011543282.1:c.708G>A, NM_014979.4:c.1461G>A, NM_014979.3:c.1461G>A, NM_014979.2:c.1461G>A, NM_014979.1:c.1461G>A, XM_011543281.4:c.1461G>A, XM_011543281.3:c.1461G>A, XM_011543281.2:c.1461G>A, XM_011543281.1:c.1461G>A, XM_017009244.3:c.426G>A, XM_017009244.2:c.426G>A, XM_017009244.1:c.426G>A, NM_001297716.2:c.1461G>A, NM_001297716.1:c.1461G>A, XP_011541584.2:p.Met487Ile, NP_055794.3:p.Met487Ile, XP_011541583.1:p.Met487Ile, XP_016864733.1:p.Met142Ile, NP_001284645.1:p.Met487Ile

Select item 14866973703.

rs1486697370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:76132179 (GRCh38)
5:75428004 (GRCh37)
Canonical SPDI:: NC_000005.10:76132178:A:C,NC_000005.10:76132178:A:G
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.76132179A>C, NC_000005.10:g.76132179A>G, NC_000005.9:g.75428004A>C, NC_000005.9:g.75428004A>G, XM_011543282.4:c.429A>C, XM_011543282.4:c.429A>G, XM_011543282.3:c.429A>C, XM_011543282.3:c.429A>G, XM_011543282.2:c.429A>C, XM_011543282.2:c.429A>G, NM_014979.4:c.429A>C, NM_014979.4:c.429A>G, NM_014979.3:c.429A>C, NM_014979.3:c.429A>G, NM_014979.2:c.429A>C, NM_014979.2:c.429A>G, NM_014979.1:c.429A>C, NM_014979.1:c.429A>G, XM_011543281.4:c.429A>C, XM_011543281.4:c.429A>G, XM_011543281.3:c.429A>C, XM_011543281.3:c.429A>G, XM_011543281.2:c.429A>C, XM_011543281.2:c.429A>G, XM_011543281.1:c.429A>C, XM_011543281.1:c.429A>G, NM_001297716.2:c.429A>C, NM_001297716.2:c.429A>G, NM_001297716.1:c.429A>C, NM_001297716.1:c.429A>G, XM_047416961.1:c.429A>C, XM_047416961.1:c.429A>G, XP_011541584.2:p.Gln143His, NP_055794.3:p.Gln143His, XP_011541583.1:p.Gln143His, NP_001284645.1:p.Gln143His, XP_047272917.1:p.Gln143His

Select item 14829098704.

rs1482909870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:76295778 (GRCh38)
5:75591603 (GRCh37)
Canonical SPDI:: NC_000005.10:76295777:G:A,NC_000005.10:76295777:G:C
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.76295778G>A, NC_000005.10:g.76295778G>C, NC_000005.9:g.75591603G>A, NC_000005.9:g.75591603G>C, NG_083740.1:g.864G>A, NG_083740.1:g.864G>C, XM_011543282.4:c.1338G>A, XM_011543282.4:c.1338G>C, XM_011543282.3:c.1338G>A, XM_011543282.3:c.1338G>C, XM_011543282.2:c.1338G>A, XM_011543282.2:c.1338G>C, XM_011543282.1:c.585G>A, XM_011543282.1:c.585G>C, NM_014979.4:c.1338G>A, NM_014979.4:c.1338G>C, NM_014979.3:c.1338G>A, NM_014979.3:c.1338G>C, NM_014979.2:c.1338G>A, NM_014979.2:c.1338G>C, NM_014979.1:c.1338G>A, NM_014979.1:c.1338G>C, XM_011543281.4:c.1338G>A, XM_011543281.4:c.1338G>C, XM_011543281.3:c.1338G>A, XM_011543281.3:c.1338G>C, XM_011543281.2:c.1338G>A, XM_011543281.2:c.1338G>C, XM_011543281.1:c.1338G>A, XM_011543281.1:c.1338G>C, XM_017009244.3:c.303G>A, XM_017009244.3:c.303G>C, XM_017009244.2:c.303G>A, XM_017009244.2:c.303G>C, XM_017009244.1:c.303G>A, XM_017009244.1:c.303G>C, NM_001297716.2:c.1338G>A, NM_001297716.2:c.1338G>C, NM_001297716.1:c.1338G>A, NM_001297716.1:c.1338G>C, XR_001742750.2:n.596C>T, XR_001742750.2:n.596C>G, XR_001742750.1:n.1124C>T, XR_001742750.1:n.1124C>G

Select item 14799997935.

rs1479999793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:76132288 (GRCh38)
5:75428113 (GRCh37)
Canonical SPDI:: NC_000005.10:76132287:G:A
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.76132288G>A, NC_000005.9:g.75428113G>A, XM_011543282.4:c.538G>A, XM_011543282.3:c.538G>A, XM_011543282.2:c.538G>A, XM_011543282.1:c.-35G>A, NM_014979.4:c.538G>A, NM_014979.3:c.538G>A, NM_014979.2:c.538G>A, NM_014979.1:c.538G>A, XM_011543281.4:c.538G>A, XM_011543281.3:c.538G>A, XM_011543281.2:c.538G>A, XM_011543281.1:c.538G>A, NM_001297716.2:c.538G>A, NM_001297716.1:c.538G>A, XM_047416961.1:c.538G>A, XP_011541584.2:p.Glu180Lys, NP_055794.3:p.Glu180Lys, XP_011541583.1:p.Glu180Lys, NP_001284645.1:p.Glu180Lys, XP_047272917.1:p.Glu180Lys

Select item 14795238416.

rs1479523841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:76301480 (GRCh38)
5:75597305 (GRCh37)
Canonical SPDI:: NC_000005.10:76301479:A:G
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.76301480A>G, NC_000005.9:g.75597305A>G, XM_011543282.4:c.1935A>G, XM_011543282.3:c.1935A>G, XM_011543282.2:c.1935A>G, XM_011543282.1:c.1182A>G, NM_014979.4:c.1935A>G, NM_014979.3:c.1935A>G, NM_014979.2:c.1935A>G, NM_014979.1:c.1935A>G, XM_011543281.4:c.1935A>G, XM_011543281.3:c.1935A>G, XM_011543281.2:c.1935A>G, XM_011543281.1:c.1935A>G, XM_017009244.3:c.900A>G, XM_017009244.2:c.900A>G, XM_017009244.1:c.900A>G, NM_001297716.2:c.1935A>G, NM_001297716.1:c.1935A>G

Select item 14778319317.

rs1477831931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:76131982 (GRCh38)
5:75427807 (GRCh37)
Canonical SPDI:: NC_000005.10:76131981:G:A
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.76131982G>A, NC_000005.9:g.75427807G>A, XM_011543282.4:c.232G>A, XM_011543282.3:c.232G>A, XM_011543282.2:c.232G>A, NM_014979.4:c.232G>A, NM_014979.3:c.232G>A, NM_014979.2:c.232G>A, NM_014979.1:c.232G>A, XM_011543281.4:c.232G>A, XM_011543281.3:c.232G>A, XM_011543281.2:c.232G>A, XM_011543281.1:c.232G>A, NM_001297716.2:c.232G>A, NM_001297716.1:c.232G>A, XM_047416961.1:c.232G>A, XP_011541584.2:p.Ala78Thr, NP_055794.3:p.Ala78Thr, XP_011541583.1:p.Ala78Thr, NP_001284645.1:p.Ala78Thr, XP_047272917.1:p.Ala78Thr

Select item 14771268918.

rs1477126891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:76301459 (GRCh38)
5:75597284 (GRCh37)
Canonical SPDI:: NC_000005.10:76301458:C:T
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000005.10:g.76301459C>T, NC_000005.9:g.75597284C>T, XM_011543282.4:c.1914C>T, XM_011543282.3:c.1914C>T, XM_011543282.2:c.1914C>T, XM_011543282.1:c.1161C>T, NM_014979.4:c.1914C>T, NM_014979.3:c.1914C>T, NM_014979.2:c.1914C>T, NM_014979.1:c.1914C>T, XM_011543281.4:c.1914C>T, XM_011543281.3:c.1914C>T, XM_011543281.2:c.1914C>T, XM_011543281.1:c.1914C>T, XM_017009244.3:c.879C>T, XM_017009244.2:c.879C>T, XM_017009244.1:c.879C>T, NM_001297716.2:c.1914C>T, NM_001297716.1:c.1914C>T

Select item 14767804859.

rs1476780485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:76300863 (GRCh38)
5:75596688 (GRCh37)
Canonical SPDI:: NC_000005.10:76300862:T:C
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.76300863T>C, NC_000005.9:g.75596688T>C, XM_011543282.4:c.1771T>C, XM_011543282.3:c.1771T>C, XM_011543282.2:c.1771T>C, XM_011543282.1:c.1018T>C, NM_014979.4:c.1771T>C, NM_014979.3:c.1771T>C, NM_014979.2:c.1771T>C, NM_014979.1:c.1771T>C, XM_011543281.4:c.1771T>C, XM_011543281.3:c.1771T>C, XM_011543281.2:c.1771T>C, XM_011543281.1:c.1771T>C, XM_017009244.3:c.736T>C, XM_017009244.2:c.736T>C, XM_017009244.1:c.736T>C, NM_001297716.2:c.1771T>C, NM_001297716.1:c.1771T>C

Select item 147668779510.

rs1476687795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:76132044 (GRCh38)
5:75427869 (GRCh37)
Canonical SPDI:: NC_000005.10:76132043:T:A,NC_000005.10:76132043:T:C
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.76132044T>A, NC_000005.10:g.76132044T>C, NC_000005.9:g.75427869T>A, NC_000005.9:g.75427869T>C, XM_011543282.4:c.294T>A, XM_011543282.4:c.294T>C, XM_011543282.3:c.294T>A, XM_011543282.3:c.294T>C, XM_011543282.2:c.294T>A, XM_011543282.2:c.294T>C, NM_014979.4:c.294T>A, NM_014979.4:c.294T>C, NM_014979.3:c.294T>A, NM_014979.3:c.294T>C, NM_014979.2:c.294T>A, NM_014979.2:c.294T>C, NM_014979.1:c.294T>A, NM_014979.1:c.294T>C, XM_011543281.4:c.294T>A, XM_011543281.4:c.294T>C, XM_011543281.3:c.294T>A, XM_011543281.3:c.294T>C, XM_011543281.2:c.294T>A, XM_011543281.2:c.294T>C, XM_011543281.1:c.294T>A, XM_011543281.1:c.294T>C, NM_001297716.2:c.294T>A, NM_001297716.2:c.294T>C, NM_001297716.1:c.294T>A, NM_001297716.1:c.294T>C, XM_047416961.1:c.294T>A, XM_047416961.1:c.294T>C, XP_011541584.2:p.Ser98Arg, NP_055794.3:p.Ser98Arg, XP_011541583.1:p.Ser98Arg, NP_001284645.1:p.Ser98Arg, XP_047272917.1:p.Ser98Arg

Select item 147484406111.

rs1474844061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:76300772 (GRCh38)
5:75596597 (GRCh37)
Canonical SPDI:: NC_000005.10:76300771:C:A
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.76300772C>A, NC_000005.9:g.75596597C>A, XM_011543282.4:c.1680C>A, XM_011543282.3:c.1680C>A, XM_011543282.2:c.1680C>A, XM_011543282.1:c.927C>A, NM_014979.4:c.1680C>A, NM_014979.3:c.1680C>A, NM_014979.2:c.1680C>A, NM_014979.1:c.1680C>A, XM_011543281.4:c.1680C>A, XM_011543281.3:c.1680C>A, XM_011543281.2:c.1680C>A, XM_011543281.1:c.1680C>A, XM_017009244.3:c.645C>A, XM_017009244.2:c.645C>A, XM_017009244.1:c.645C>A, NM_001297716.2:c.1680C>A, NM_001297716.1:c.1680C>A, XP_011541584.2:p.Cys560Ter, NP_055794.3:p.Cys560Ter, XP_011541583.1:p.Cys560Ter, XP_016864733.1:p.Cys215Ter, NP_001284645.1:p.Cys560Ter

Select item 147414625412.

rs1474146254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:76194919 (GRCh38)
5:75490744 (GRCh37)
Canonical SPDI:: NC_000005.10:76194918:G:A,NC_000005.10:76194918:G:C
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.76194919G>A, NC_000005.10:g.76194919G>C, NC_000005.9:g.75490744G>A, NC_000005.9:g.75490744G>C, XM_011543282.4:c.581G>A, XM_011543282.4:c.581G>C, XM_011543282.3:c.581G>A, XM_011543282.3:c.581G>C, XM_011543282.2:c.581G>A, XM_011543282.2:c.581G>C, NM_014979.4:c.581G>A, NM_014979.4:c.581G>C, NM_014979.3:c.581G>A, NM_014979.3:c.581G>C, NM_014979.2:c.581G>A, NM_014979.2:c.581G>C, NM_014979.1:c.581G>A, NM_014979.1:c.581G>C, XM_011543281.4:c.581G>A, XM_011543281.4:c.581G>C, XM_011543281.3:c.581G>A, XM_011543281.3:c.581G>C, XM_011543281.2:c.581G>A, XM_011543281.2:c.581G>C, XM_011543281.1:c.581G>A, XM_011543281.1:c.581G>C, NM_001297716.2:c.581G>A, NM_001297716.2:c.581G>C, NM_001297716.1:c.581G>A, NM_001297716.1:c.581G>C, XM_047416961.1:c.581G>A, XM_047416961.1:c.581G>C, XP_011541584.2:p.Gly194Asp, XP_011541584.2:p.Gly194Ala, NP_055794.3:p.Gly194Asp, NP_055794.3:p.Gly194Ala, XP_011541583.1:p.Gly194Asp, XP_011541583.1:p.Gly194Ala, NP_001284645.1:p.Gly194Asp, NP_001284645.1:p.Gly194Ala, XP_047272917.1:p.Gly194Asp, XP_047272917.1:p.Gly194Ala

Select item 147389102113.

rs1473891021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:76195054 (GRCh38)
5:75490879 (GRCh37)
Canonical SPDI:: NC_000005.10:76195053:A:G,NC_000005.10:76195053:A:T
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.76195054A>G, NC_000005.10:g.76195054A>T, NC_000005.9:g.75490879A>G, NC_000005.9:g.75490879A>T, XM_011543282.4:c.716A>G, XM_011543282.4:c.716A>T, XM_011543282.3:c.716A>G, XM_011543282.3:c.716A>T, XM_011543282.2:c.716A>G, XM_011543282.2:c.716A>T, NM_014979.4:c.716A>G, NM_014979.4:c.716A>T, NM_014979.3:c.716A>G, NM_014979.3:c.716A>T, NM_014979.2:c.716A>G, NM_014979.2:c.716A>T, NM_014979.1:c.716A>G, NM_014979.1:c.716A>T, XM_011543281.4:c.716A>G, XM_011543281.4:c.716A>T, XM_011543281.3:c.716A>G, XM_011543281.3:c.716A>T, XM_011543281.2:c.716A>G, XM_011543281.2:c.716A>T, XM_011543281.1:c.716A>G, XM_011543281.1:c.716A>T, NM_001297716.2:c.716A>G, NM_001297716.2:c.716A>T, NM_001297716.1:c.716A>G, NM_001297716.1:c.716A>T, XM_047416961.1:c.716A>G, XM_047416961.1:c.716A>T, XP_011541584.2:p.Gln239Arg, XP_011541584.2:p.Gln239Leu, NP_055794.3:p.Gln239Arg, NP_055794.3:p.Gln239Leu, XP_011541583.1:p.Gln239Arg, XP_011541583.1:p.Gln239Leu, NP_001284645.1:p.Gln239Arg, NP_001284645.1:p.Gln239Leu, XP_047272917.1:p.Gln239Arg, XP_047272917.1:p.Gln239Leu

Select item 147385695714.

rs1473856957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:76285180 (GRCh38)
5:75581005 (GRCh37)
Canonical SPDI:: NC_000005.10:76285179:G:A
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.76285180G>A, NC_000005.9:g.75581005G>A, XM_011543282.4:c.932G>A, XM_011543282.3:c.932G>A, XM_011543282.2:c.932G>A, XM_011543282.1:c.179G>A, NM_014979.4:c.932G>A, NM_014979.3:c.932G>A, NM_014979.2:c.932G>A, NM_014979.1:c.932G>A, XM_011543281.4:c.932G>A, XM_011543281.3:c.932G>A, XM_011543281.2:c.932G>A, XM_011543281.1:c.932G>A, NM_001297716.2:c.932G>A, NM_001297716.1:c.932G>A, XM_047416961.1:c.932G>A, XP_011541584.2:p.Gly311Glu, NP_055794.3:p.Gly311Glu, XP_011541583.1:p.Gly311Glu, NP_001284645.1:p.Gly311Glu, XP_047272917.1:p.Gly311Glu

Select item 147253412415.

rs1472534124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:76295868 (GRCh38)
5:75591693 (GRCh37)
Canonical SPDI:: NC_000005.10:76295867:T:C,NC_000005.10:76295867:T:G
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.76295868T>C, NC_000005.10:g.76295868T>G, NC_000005.9:g.75591693T>C, NC_000005.9:g.75591693T>G, NG_083740.1:g.954T>C, NG_083740.1:g.954T>G, XM_011543282.4:c.1428T>C, XM_011543282.4:c.1428T>G, XM_011543282.3:c.1428T>C, XM_011543282.3:c.1428T>G, XM_011543282.2:c.1428T>C, XM_011543282.2:c.1428T>G, XM_011543282.1:c.675T>C, XM_011543282.1:c.675T>G, NM_014979.4:c.1428T>C, NM_014979.4:c.1428T>G, NM_014979.3:c.1428T>C, NM_014979.3:c.1428T>G, NM_014979.2:c.1428T>C, NM_014979.2:c.1428T>G, NM_014979.1:c.1428T>C, NM_014979.1:c.1428T>G, XM_011543281.4:c.1428T>C, XM_011543281.4:c.1428T>G, XM_011543281.3:c.1428T>C, XM_011543281.3:c.1428T>G, XM_011543281.2:c.1428T>C, XM_011543281.2:c.1428T>G, XM_011543281.1:c.1428T>C, XM_011543281.1:c.1428T>G, XM_017009244.3:c.393T>C, XM_017009244.3:c.393T>G, XM_017009244.2:c.393T>C, XM_017009244.2:c.393T>G, XM_017009244.1:c.393T>C, XM_017009244.1:c.393T>G, NM_001297716.2:c.1428T>C, NM_001297716.2:c.1428T>G, NM_001297716.1:c.1428T>C, NM_001297716.1:c.1428T>G, XP_011541584.2:p.Asp476Glu, NP_055794.3:p.Asp476Glu, XP_011541583.1:p.Asp476Glu, XP_016864733.1:p.Asp131Glu, NP_001284645.1:p.Asp476Glu

Select item 147126901316.

rs1471269013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:76300907 (GRCh38)
5:75596732 (GRCh37)
Canonical SPDI:: NC_000005.10:76300906:C:T
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.76300907C>T, NC_000005.9:g.75596732C>T, XM_011543282.4:c.1815C>T, XM_011543282.3:c.1815C>T, XM_011543282.2:c.1815C>T, XM_011543282.1:c.1062C>T, NM_014979.4:c.1815C>T, NM_014979.3:c.1815C>T, NM_014979.2:c.1815C>T, NM_014979.1:c.1815C>T, XM_011543281.4:c.1815C>T, XM_011543281.3:c.1815C>T, XM_011543281.2:c.1815C>T, XM_011543281.1:c.1815C>T, XM_017009244.3:c.780C>T, XM_017009244.2:c.780C>T, XM_017009244.1:c.780C>T, NM_001297716.2:c.1815C>T, NM_001297716.1:c.1815C>T

Select item 147039314917.

rs1470393149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:76209754 (GRCh38)
5:75505579 (GRCh37)
Canonical SPDI:: NC_000005.10:76209753:C:T
Gene:: SV2C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.76209754C>T, NC_000005.9:g.75505579C>T, XM_011543282.4:c.780C>T, XM_011543282.3:c.780C>T, XM_011543282.2:c.780C>T, XM_011543282.1:c.27C>T, NM_014979.4:c.780C>T, NM_014979.3:c.780C>T, NM_014979.2:c.780C>T, NM_014979.1:c.780C>T, XM_011543281.4:c.780C>T, XM_011543281.3:c.780C>T, XM_011543281.2:c.780C>T, XM_011543281.1:c.780C>T, NM_001297716.2:c.780C>T, NM_001297716.1:c.780C>T, XM_047416961.1:c.780C>T

Select item 146980732918.

rs1469807329 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:76295837 (GRCh38)
5:75591662 (GRCh37)
Canonical SPDI:: NC_000005.10:76295836:A:
Gene:: SV2C (Varview), LOC105379042 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.76295837del, NC_000005.9:g.75591662del, NG_083740.1:g.923del, XM_011543282.4:c.1397del, XM_011543282.3:c.1397del, XM_011543282.2:c.1397del, XM_011543282.1:c.644del, NM_014979.4:c.1397del, NM_014979.3:c.1397del, NM_014979.2:c.1397del, NM_014979.1:c.1397del, XM_011543281.4:c.1397del, XM_011543281.3:c.1397del, XM_011543281.2:c.1397del, XM_011543281.1:c.1397del, XM_017009244.3:c.362del, XM_017009244.2:c.362del, XM_017009244.1:c.362del, NM_001297716.2:c.1397del, NM_001297716.1:c.1397del, XR_001742750.2:n.537del, XR_001742750.1:n.1065del, XP_011541584.2:p.Tyr466fs, NP_055794.3:p.Tyr466fs, XP_011541583.1:p.Tyr466fs, XP_016864733.1:p.Tyr121fs, NP_001284645.1:p.Tyr466fs

Select item 146877735219.

rs1468777352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:76195098 (GRCh38)
5:75490923 (GRCh37)
Canonical SPDI:: NC_000005.10:76195097:G:A
Gene:: SV2C (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000005.10:g.76195098G>A, NC_000005.9:g.75490923G>A, XM_011543282.4:c.760G>A, XM_011543282.3:c.760G>A, XM_011543282.2:c.760G>A, NM_014979.4:c.760G>A, NM_014979.3:c.760G>A, NM_014979.2:c.760G>A, NM_014979.1:c.760G>A, XM_011543281.4:c.760G>A, XM_011543281.3:c.760G>A, XM_011543281.2:c.760G>A, XM_011543281.1:c.760G>A, NM_001297716.2:c.760G>A, NM_001297716.1:c.760G>A, XM_047416961.1:c.760G>A, XP_011541584.2:p.Gly254Arg, NP_055794.3:p.Gly254Arg, XP_011541583.1:p.Gly254Arg, NP_001284645.1:p.Gly254Arg, XP_047272917.1:p.Gly254Arg

Select item 146857008620.

rs1468570086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:76131875 (GRCh38)
5:75427700 (GRCh37)
Canonical SPDI:: NC_000005.10:76131874:C:A
Gene:: SV2C (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.76131875C>A, NC_000005.9:g.75427700C>A, XM_011543282.4:c.125C>A, XM_011543282.3:c.125C>A, XM_011543282.2:c.125C>A, NM_014979.4:c.125C>A, NM_014979.3:c.125C>A, NM_014979.2:c.125C>A, NM_014979.1:c.125C>A, XM_011543281.4:c.125C>A, XM_011543281.3:c.125C>A, XM_011543281.2:c.125C>A, XM_011543281.1:c.125C>A, NM_001297716.2:c.125C>A, NM_001297716.1:c.125C>A, XM_047416961.1:c.125C>A, XP_011541584.2:p.Thr42Asn, NP_055794.3:p.Thr42Asn, XP_011541583.1:p.Thr42Asn, NP_001284645.1:p.Thr42Asn, XP_047272917.1:p.Thr42Asn

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