SNP Links for Protein (Select 255760064) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 231

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Select item 14862870091.

rs1486287009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6730451 (GRCh38)
12:6839617 (GRCh37)
Canonical SPDI:: NC_000012.12:6730450:C:T
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6730451C>T, NC_000012.11:g.6839617C>T, NG_034023.1:g.11468C>T, NM_016319.4:c.580C>T, NM_016319.3:c.580C>T, NM_016319.2:c.580C>T, NM_001164095.3:c.580C>T, NM_001164095.2:c.580C>T, NM_001164095.1:c.580C>T, NM_001164093.2:c.580C>T, NM_001164093.1:c.580C>T, NM_001164094.2:c.580C>T, NM_001164094.1:c.580C>T, XM_005253694.3:c.580C>T, XM_005253694.2:c.580C>T, XM_005253694.1:c.580C>T, NP_057403.1:p.Arg194Cys, NP_001157567.1:p.Arg194Cys, NP_001157565.1:p.Arg194Cys, NP_001157566.1:p.Arg194Cys, XP_005253751.1:p.Arg194Cys

Select item 14852748452.

rs1485274845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6730804 (GRCh38)
12:6839970 (GRCh37)
Canonical SPDI:: NC_000012.12:6730803:G:A
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.6730804G>A, NC_000012.11:g.6839970G>A, NG_034023.1:g.11821G>A, NM_016319.4:c.772G>A, NM_016319.3:c.772G>A, NM_016319.2:c.772G>A, NM_001164095.3:c.772G>A, NM_001164095.2:c.772G>A, NM_001164095.1:c.772G>A, NM_001164093.2:c.772G>A, NM_001164093.1:c.772G>A, NM_001164094.2:c.772G>A, NM_001164094.1:c.772G>A, XM_005253694.3:c.772G>A, XM_005253694.2:c.772G>A, XM_005253694.1:c.772G>A, NP_057403.1:p.Ala258Thr, NP_001157567.1:p.Ala258Thr, NP_001157565.1:p.Ala258Thr, NP_001157566.1:p.Ala258Thr, XP_005253751.1:p.Ala258Thr

Select item 14828243933.

rs1482824393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6724799 (GRCh38)
12:6833965 (GRCh37)
Canonical SPDI:: NC_000012.12:6724798:A:G
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6724799A>G, NC_000012.11:g.6833965A>G, NG_034023.1:g.5816A>G, NM_016319.4:c.143A>G, NM_016319.3:c.143A>G, NM_016319.2:c.143A>G, NM_001164095.3:c.143A>G, NM_001164095.2:c.143A>G, NM_001164095.1:c.143A>G, NM_001164093.2:c.143A>G, NM_001164093.1:c.143A>G, NM_001164094.2:c.143A>G, NM_001164094.1:c.143A>G, XM_005253694.3:c.143A>G, XM_005253694.2:c.143A>G, XM_005253694.1:c.143A>G, NP_057403.1:p.Asp48Gly, NP_001157567.1:p.Asp48Gly, NP_001157565.1:p.Asp48Gly, NP_001157566.1:p.Asp48Gly, XP_005253751.1:p.Asp48Gly

Select item 14745753424.

rs1474575342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6730729 (GRCh38)
12:6839895 (GRCh37)
Canonical SPDI:: NC_000012.12:6730728:C:T
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000012.12:g.6730729C>T, NC_000012.11:g.6839895C>T, NG_034023.1:g.11746C>T, NM_016319.4:c.697C>T, NM_016319.3:c.697C>T, NM_016319.2:c.697C>T, NM_001164095.3:c.697C>T, NM_001164095.2:c.697C>T, NM_001164095.1:c.697C>T, NM_001164093.2:c.697C>T, NM_001164093.1:c.697C>T, NM_001164094.2:c.697C>T, NM_001164094.1:c.697C>T, XM_005253694.3:c.697C>T, XM_005253694.2:c.697C>T, XM_005253694.1:c.697C>T, NP_057403.1:p.Gln233Ter, NP_001157567.1:p.Gln233Ter, NP_001157565.1:p.Gln233Ter, NP_001157566.1:p.Gln233Ter, XP_005253751.1:p.Gln233Ter

Select item 14720333035.

rs1472033303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:6730730 (GRCh38)
12:6839896 (GRCh37)
Canonical SPDI:: NC_000012.12:6730729:A:C
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6730730A>C, NC_000012.11:g.6839896A>C, NG_034023.1:g.11747A>C, NM_016319.4:c.698A>C, NM_016319.3:c.698A>C, NM_016319.2:c.698A>C, NM_001164095.3:c.698A>C, NM_001164095.2:c.698A>C, NM_001164095.1:c.698A>C, NM_001164093.2:c.698A>C, NM_001164093.1:c.698A>C, NM_001164094.2:c.698A>C, NM_001164094.1:c.698A>C, XM_005253694.3:c.698A>C, XM_005253694.2:c.698A>C, XM_005253694.1:c.698A>C, NP_057403.1:p.Gln233Pro, NP_001157567.1:p.Gln233Pro, NP_001157565.1:p.Gln233Pro, NP_001157566.1:p.Gln233Pro, XP_005253751.1:p.Gln233Pro

Select item 14716052736.

rs1471605273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6724808 (GRCh38)
12:6833974 (GRCh37)
Canonical SPDI:: NC_000012.12:6724807:A:G
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.6724808A>G, NC_000012.11:g.6833974A>G, NG_034023.1:g.5825A>G, NM_016319.4:c.152A>G, NM_016319.3:c.152A>G, NM_016319.2:c.152A>G, NM_001164095.3:c.152A>G, NM_001164095.2:c.152A>G, NM_001164095.1:c.152A>G, NM_001164093.2:c.152A>G, NM_001164093.1:c.152A>G, NM_001164094.2:c.152A>G, NM_001164094.1:c.152A>G, XM_005253694.3:c.152A>G, XM_005253694.2:c.152A>G, XM_005253694.1:c.152A>G, NP_057403.1:p.Asn51Ser, NP_001157567.1:p.Asn51Ser, NP_001157565.1:p.Asn51Ser, NP_001157566.1:p.Asn51Ser, XP_005253751.1:p.Asn51Ser

Select item 14700455217.

rs1470045521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:6728234 (GRCh38)
12:6837400 (GRCh37)
Canonical SPDI:: NC_000012.12:6728233:A:T
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6728234A>T, NC_000012.11:g.6837400A>T, NG_034023.1:g.9251A>T, NM_016319.4:c.250A>T, NM_016319.3:c.250A>T, NM_016319.2:c.250A>T, NM_001164095.3:c.250A>T, NM_001164095.2:c.250A>T, NM_001164095.1:c.250A>T, NM_001164093.2:c.250A>T, NM_001164093.1:c.250A>T, NM_001164094.2:c.250A>T, NM_001164094.1:c.250A>T, XM_005253694.3:c.250A>T, XM_005253694.2:c.250A>T, XM_005253694.1:c.250A>T, NP_057403.1:p.Asn84Tyr, NP_001157567.1:p.Asn84Tyr, NP_001157565.1:p.Asn84Tyr, NP_001157566.1:p.Asn84Tyr, XP_005253751.1:p.Asn84Tyr

Select item 14675772838.

rs1467577283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6730493 (GRCh38)
12:6839659 (GRCh37)
Canonical SPDI:: NC_000012.12:6730492:C:T
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6730493C>T, NC_000012.11:g.6839659C>T, NG_034023.1:g.11510C>T, NM_016319.4:c.622C>T, NM_016319.3:c.622C>T, NM_016319.2:c.622C>T, NM_001164095.3:c.622C>T, NM_001164095.2:c.622C>T, NM_001164095.1:c.622C>T, NM_001164093.2:c.622C>T, NM_001164093.1:c.622C>T, NM_001164094.2:c.622C>T, NM_001164094.1:c.622C>T, XM_005253694.3:c.622C>T, XM_005253694.2:c.622C>T, XM_005253694.1:c.622C>T, NP_057403.1:p.Gln208Ter, NP_001157567.1:p.Gln208Ter, NP_001157565.1:p.Gln208Ter, NP_001157566.1:p.Gln208Ter, XP_005253751.1:p.Gln208Ter

Select item 14667511009.

rs1466751100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6724789 (GRCh38)
12:6833955 (GRCh37)
Canonical SPDI:: NC_000012.12:6724788:G:A
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.6724789G>A, NC_000012.11:g.6833955G>A, NG_034023.1:g.5806G>A, NM_016319.4:c.133G>A, NM_016319.3:c.133G>A, NM_016319.2:c.133G>A, NM_001164095.3:c.133G>A, NM_001164095.2:c.133G>A, NM_001164095.1:c.133G>A, NM_001164093.2:c.133G>A, NM_001164093.1:c.133G>A, NM_001164094.2:c.133G>A, NM_001164094.1:c.133G>A, XM_005253694.3:c.133G>A, XM_005253694.2:c.133G>A, XM_005253694.1:c.133G>A, NP_057403.1:p.Glu45Lys, NP_001157567.1:p.Glu45Lys, NP_001157565.1:p.Glu45Lys, NP_001157566.1:p.Glu45Lys, XP_005253751.1:p.Glu45Lys

Select item 146606086410.

rs1466060864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6730756 (GRCh38)
12:6839922 (GRCh37)
Canonical SPDI:: NC_000012.12:6730755:C:T
Gene:: COPS7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.6730756C>T, NC_000012.11:g.6839922C>T, NG_034023.1:g.11773C>T, NM_016319.4:c.724C>T, NM_016319.3:c.724C>T, NM_016319.2:c.724C>T, NM_001164095.3:c.724C>T, NM_001164095.2:c.724C>T, NM_001164095.1:c.724C>T, NM_001164093.2:c.724C>T, NM_001164093.1:c.724C>T, NM_001164094.2:c.724C>T, NM_001164094.1:c.724C>T, XM_005253694.3:c.724C>T, XM_005253694.2:c.724C>T, XM_005253694.1:c.724C>T

Select item 146556103211.

rs1465561032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6724677 (GRCh38)
12:6833843 (GRCh37)
Canonical SPDI:: NC_000012.12:6724676:G:A,NC_000012.12:6724676:G:C
Gene:: COPS7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.6724677G>A, NC_000012.12:g.6724677G>C, NC_000012.11:g.6833843G>A, NC_000012.11:g.6833843G>C, NG_034023.1:g.5694G>A, NG_034023.1:g.5694G>C, NM_016319.4:c.21G>A, NM_016319.4:c.21G>C, NM_016319.3:c.21G>A, NM_016319.3:c.21G>C, NM_016319.2:c.21G>A, NM_016319.2:c.21G>C, NM_001164095.3:c.21G>A, NM_001164095.3:c.21G>C, NM_001164095.2:c.21G>A, NM_001164095.2:c.21G>C, NM_001164095.1:c.21G>A, NM_001164095.1:c.21G>C, NM_001164093.2:c.21G>A, NM_001164093.2:c.21G>C, NM_001164093.1:c.21G>A, NM_001164093.1:c.21G>C, NM_001164094.2:c.21G>A, NM_001164094.2:c.21G>C, NM_001164094.1:c.21G>A, NM_001164094.1:c.21G>C, XM_005253694.3:c.21G>A, XM_005253694.3:c.21G>C, XM_005253694.2:c.21G>A, XM_005253694.2:c.21G>C, XM_005253694.1:c.21G>A, XM_005253694.1:c.21G>C

Select item 146485176512.

rs1464851765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6729357 (GRCh38)
12:6838523 (GRCh37)
Canonical SPDI:: NC_000012.12:6729356:C:T
Gene:: COPS7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6729357C>T, NC_000012.11:g.6838523C>T, NG_034023.1:g.10374C>T, NM_016319.4:c.438C>T, NM_016319.3:c.438C>T, NM_016319.2:c.438C>T, NM_001164095.3:c.438C>T, NM_001164095.2:c.438C>T, NM_001164095.1:c.438C>T, NM_001164093.2:c.438C>T, NM_001164093.1:c.438C>T, NM_001164094.2:c.438C>T, NM_001164094.1:c.438C>T, XM_005253694.3:c.438C>T, XM_005253694.2:c.438C>T, XM_005253694.1:c.438C>T

Select item 145851374013.

rs1458513740 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGGTAACCA [Show Flanks]
Chromosome:: 12:6727998 (GRCh38)
12:6837165 (GRCh37)
Canonical SPDI:: NC_000012.12:6727998:TAGGTAACCA:TAGGTAACCATAGGTAACCA
Gene:: COPS7A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: TAGGTAACCATAGGTAACCA=0./0 (ALFA)
HGVS:: NC_000012.12:g.6727999_6728008dup, NC_000012.11:g.6837165_6837174dup, NG_034023.1:g.9016_9025dup

Select item 145365703014.

rs1453657030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6724737 (GRCh38)
12:6833903 (GRCh37)
Canonical SPDI:: NC_000012.12:6724736:G:A
Gene:: COPS7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6724737G>A, NC_000012.11:g.6833903G>A, NG_034023.1:g.5754G>A, NM_016319.4:c.81G>A, NM_016319.3:c.81G>A, NM_016319.2:c.81G>A, NM_001164095.3:c.81G>A, NM_001164095.2:c.81G>A, NM_001164095.1:c.81G>A, NM_001164093.2:c.81G>A, NM_001164093.1:c.81G>A, NM_001164094.2:c.81G>A, NM_001164094.1:c.81G>A, XM_005253694.3:c.81G>A, XM_005253694.2:c.81G>A, XM_005253694.1:c.81G>A

Select item 144450314715.

rs1444503147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6729319 (GRCh38)
12:6838485 (GRCh37)
Canonical SPDI:: NC_000012.12:6729318:G:A
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6729319G>A, NC_000012.11:g.6838485G>A, NG_034023.1:g.10336G>A, NM_016319.4:c.400G>A, NM_016319.3:c.400G>A, NM_016319.2:c.400G>A, NM_001164095.3:c.400G>A, NM_001164095.2:c.400G>A, NM_001164095.1:c.400G>A, NM_001164093.2:c.400G>A, NM_001164093.1:c.400G>A, NM_001164094.2:c.400G>A, NM_001164094.1:c.400G>A, XM_005253694.3:c.400G>A, XM_005253694.2:c.400G>A, XM_005253694.1:c.400G>A, NP_057403.1:p.Glu134Lys, NP_001157567.1:p.Glu134Lys, NP_001157565.1:p.Glu134Lys, NP_001157566.1:p.Glu134Lys, XP_005253751.1:p.Glu134Lys

Select item 144344200516.

rs1443442005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6724661 (GRCh38)
12:6833827 (GRCh37)
Canonical SPDI:: NC_000012.12:6724660:G:A
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6724661G>A, NC_000012.11:g.6833827G>A, NG_034023.1:g.5678G>A, NM_016319.4:c.5G>A, NM_016319.3:c.5G>A, NM_016319.2:c.5G>A, NM_001164095.3:c.5G>A, NM_001164095.2:c.5G>A, NM_001164095.1:c.5G>A, NM_001164093.2:c.5G>A, NM_001164093.1:c.5G>A, NM_001164094.2:c.5G>A, NM_001164094.1:c.5G>A, XM_005253694.3:c.5G>A, XM_005253694.2:c.5G>A, XM_005253694.1:c.5G>A, NP_057403.1:p.Ser2Asn, NP_001157567.1:p.Ser2Asn, NP_001157565.1:p.Ser2Asn, NP_001157566.1:p.Ser2Asn, XP_005253751.1:p.Ser2Asn

Select item 144279127217.

rs1442791272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:6724689 (GRCh38)
12:6833855 (GRCh37)
Canonical SPDI:: NC_000012.12:6724688:C:A,NC_000012.12:6724688:C:T
Gene:: COPS7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6724689C>A, NC_000012.12:g.6724689C>T, NC_000012.11:g.6833855C>A, NC_000012.11:g.6833855C>T, NG_034023.1:g.5706C>A, NG_034023.1:g.5706C>T, NM_016319.4:c.33C>A, NM_016319.4:c.33C>T, NM_016319.3:c.33C>A, NM_016319.3:c.33C>T, NM_016319.2:c.33C>A, NM_016319.2:c.33C>T, NM_001164095.3:c.33C>A, NM_001164095.3:c.33C>T, NM_001164095.2:c.33C>A, NM_001164095.2:c.33C>T, NM_001164095.1:c.33C>A, NM_001164095.1:c.33C>T, NM_001164093.2:c.33C>A, NM_001164093.2:c.33C>T, NM_001164093.1:c.33C>A, NM_001164093.1:c.33C>T, NM_001164094.2:c.33C>A, NM_001164094.2:c.33C>T, NM_001164094.1:c.33C>A, NM_001164094.1:c.33C>T, XM_005253694.3:c.33C>A, XM_005253694.3:c.33C>T, XM_005253694.2:c.33C>A, XM_005253694.2:c.33C>T, XM_005253694.1:c.33C>A, XM_005253694.1:c.33C>T, NP_057403.1:p.Asn11Lys, NP_001157567.1:p.Asn11Lys, NP_001157565.1:p.Asn11Lys, NP_001157566.1:p.Asn11Lys, XP_005253751.1:p.Asn11Lys

Select item 144193183718.

rs1441931837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:6729398 (GRCh38)
12:6838564 (GRCh37)
Canonical SPDI:: NC_000012.12:6729397:G:A,NC_000012.12:6729397:G:T
Gene:: COPS7A (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)
HGVS:: NC_000012.12:g.6729398G>A, NC_000012.12:g.6729398G>T, NC_000012.11:g.6838564G>A, NC_000012.11:g.6838564G>T, NG_034023.1:g.10415G>A, NG_034023.1:g.10415G>T, NM_016319.4:c.479G>A, NM_016319.4:c.479G>T, NM_016319.3:c.479G>A, NM_016319.3:c.479G>T, NM_016319.2:c.479G>A, NM_016319.2:c.479G>T, NM_001164095.3:c.479G>A, NM_001164095.3:c.479G>T, NM_001164095.2:c.479G>A, NM_001164095.2:c.479G>T, NM_001164095.1:c.479G>A, NM_001164095.1:c.479G>T, NM_001164093.2:c.479G>A, NM_001164093.2:c.479G>T, NM_001164093.1:c.479G>A, NM_001164093.1:c.479G>T, NM_001164094.2:c.479G>A, NM_001164094.2:c.479G>T, NM_001164094.1:c.479G>A, NM_001164094.1:c.479G>T, XM_005253694.3:c.479G>A, XM_005253694.3:c.479G>T, XM_005253694.2:c.479G>A, XM_005253694.2:c.479G>T, XM_005253694.1:c.479G>A, XM_005253694.1:c.479G>T, NP_057403.1:p.Arg160Gln, NP_057403.1:p.Arg160Leu, NP_001157567.1:p.Arg160Gln, NP_001157567.1:p.Arg160Leu, NP_001157565.1:p.Arg160Gln, NP_001157565.1:p.Arg160Leu, NP_001157566.1:p.Arg160Gln, NP_001157566.1:p.Arg160Leu, XP_005253751.1:p.Arg160Gln, XP_005253751.1:p.Arg160Leu

Select item 144190835819.

rs1441908358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6729329 (GRCh38)
12:6838495 (GRCh37)
Canonical SPDI:: NC_000012.12:6729328:A:G
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000177/3 (TOMMO)
HGVS:: NC_000012.12:g.6729329A>G, NC_000012.11:g.6838495A>G, NG_034023.1:g.10346A>G, NM_016319.4:c.410A>G, NM_016319.3:c.410A>G, NM_016319.2:c.410A>G, NM_001164095.3:c.410A>G, NM_001164095.2:c.410A>G, NM_001164095.1:c.410A>G, NM_001164093.2:c.410A>G, NM_001164093.1:c.410A>G, NM_001164094.2:c.410A>G, NM_001164094.1:c.410A>G, XM_005253694.3:c.410A>G, XM_005253694.2:c.410A>G, XM_005253694.1:c.410A>G, NP_057403.1:p.Tyr137Cys, NP_001157567.1:p.Tyr137Cys, NP_001157565.1:p.Tyr137Cys, NP_001157566.1:p.Tyr137Cys, XP_005253751.1:p.Tyr137Cys

Select item 143882811720.

rs1438828117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6724712 (GRCh38)
12:6833878 (GRCh37)
Canonical SPDI:: NC_000012.12:6724711:C:G
Gene:: COPS7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6724712C>G, NC_000012.11:g.6833878C>G, NG_034023.1:g.5729C>G, NM_016319.4:c.56C>G, NM_016319.3:c.56C>G, NM_016319.2:c.56C>G, NM_001164095.3:c.56C>G, NM_001164095.2:c.56C>G, NM_001164095.1:c.56C>G, NM_001164093.2:c.56C>G, NM_001164093.1:c.56C>G, NM_001164094.2:c.56C>G, NM_001164094.1:c.56C>G, XM_005253694.3:c.56C>G, XM_005253694.2:c.56C>G, XM_005253694.1:c.56C>G, NP_057403.1:p.Ala19Gly, NP_001157567.1:p.Ala19Gly, NP_001157565.1:p.Ala19Gly, NP_001157566.1:p.Ala19Gly, XP_005253751.1:p.Ala19Gly

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