SNP Links for Protein (Select 254939613) - SNP

Links from Protein

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Select item 14898372291.

rs1489837229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65102241 (GRCh38)
15:65394579 (GRCh37)
Canonical SPDI:: NC_000015.10:65102240:C:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000015.10:g.65102241C>T, NC_000015.9:g.65394579C>T, XM_011521547.4:c.564G>A, XM_011521547.3:c.564G>A, XM_011521547.2:c.564G>A, XM_011521547.1:c.564G>A, XM_017022172.3:c.564G>A, XM_017022172.2:c.564G>A, XM_017022172.1:c.564G>A, NM_001163692.2:c.564G>A, NM_001163692.1:c.564G>A

Select item 14889532832.

rs1488953283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:65102233 (GRCh38)
15:65394571 (GRCh37)
Canonical SPDI:: NC_000015.10:65102232:G:A,NC_000015.10:65102232:G:T
Gene:: UBAP1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65102233G>A, NC_000015.10:g.65102233G>T, NC_000015.9:g.65394571G>A, NC_000015.9:g.65394571G>T, XM_011521547.4:c.572C>T, XM_011521547.4:c.572C>A, XM_011521547.3:c.572C>T, XM_011521547.3:c.572C>A, XM_011521547.2:c.572C>T, XM_011521547.2:c.572C>A, XM_011521547.1:c.572C>T, XM_011521547.1:c.572C>A, XM_017022172.3:c.572C>T, XM_017022172.3:c.572C>A, XM_017022172.2:c.572C>T, XM_017022172.2:c.572C>A, XM_017022172.1:c.572C>T, XM_017022172.1:c.572C>A, NM_001163692.2:c.572C>T, NM_001163692.2:c.572C>A, NM_001163692.1:c.572C>T, NM_001163692.1:c.572C>A, XP_011519849.1:p.Ala191Val, XP_011519849.1:p.Ala191Glu, XP_016877661.1:p.Ala191Val, XP_016877661.1:p.Ala191Glu, NP_001157164.1:p.Ala191Val, NP_001157164.1:p.Ala191Glu

Select item 14885913023.

rs1488591302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65094514 (GRCh38)
15:65386852 (GRCh37)
Canonical SPDI:: NC_000015.10:65094513:C:T
Gene:: UBAP1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.65094514C>T, NC_000015.9:g.65386852C>T, XM_011521547.4:c.972G>A, XM_011521547.3:c.972G>A, XM_011521547.2:c.972G>A, XM_011521547.1:c.972G>A, XM_017022172.3:c.*4552G>A, XM_017022172.2:c.*4552G>A, XM_017022172.1:c.*4552G>A, NM_001163692.2:c.972G>A, NM_001163692.1:c.972G>A

Select item 14885405144.

rs1488540514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:65102601 (GRCh38)
15:65394939 (GRCh37)
Canonical SPDI:: NC_000015.10:65102600:C:A,NC_000015.10:65102600:C:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.65102601C>A, NC_000015.10:g.65102601C>T, NC_000015.9:g.65394939C>A, NC_000015.9:g.65394939C>T, XM_011521547.4:c.204G>T, XM_011521547.4:c.204G>A, XM_011521547.3:c.204G>T, XM_011521547.3:c.204G>A, XM_011521547.2:c.204G>T, XM_011521547.2:c.204G>A, XM_011521547.1:c.204G>T, XM_011521547.1:c.204G>A, XM_017022172.3:c.204G>T, XM_017022172.3:c.204G>A, XM_017022172.2:c.204G>T, XM_017022172.2:c.204G>A, XM_017022172.1:c.204G>T, XM_017022172.1:c.204G>A, NM_001163692.2:c.204G>T, NM_001163692.2:c.204G>A, NM_001163692.1:c.204G>T, NM_001163692.1:c.204G>A

Select item 14866299345.

rs1486629934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:65102501 (GRCh38)
15:65394839 (GRCh37)
Canonical SPDI:: NC_000015.10:65102500:G:A,NC_000015.10:65102500:G:C
Gene:: UBAP1L (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000071/1 (TOMMO)
C=0.000134/10 (GnomAD_exomes)
C=0.000143/20 (GnomAD)
HGVS:: NC_000015.10:g.65102501G>A, NC_000015.10:g.65102501G>C, NC_000015.9:g.65394839G>A, NC_000015.9:g.65394839G>C, XM_011521547.4:c.304C>T, XM_011521547.4:c.304C>G, XM_011521547.3:c.304C>T, XM_011521547.3:c.304C>G, XM_011521547.2:c.304C>T, XM_011521547.2:c.304C>G, XM_011521547.1:c.304C>T, XM_011521547.1:c.304C>G, XM_017022172.3:c.304C>T, XM_017022172.3:c.304C>G, XM_017022172.2:c.304C>T, XM_017022172.2:c.304C>G, XM_017022172.1:c.304C>T, XM_017022172.1:c.304C>G, NM_001163692.2:c.304C>T, NM_001163692.2:c.304C>G, NM_001163692.1:c.304C>T, NM_001163692.1:c.304C>G, XP_011519849.1:p.Gln102Ter, XP_011519849.1:p.Gln102Glu, XP_016877661.1:p.Gln102Ter, XP_016877661.1:p.Gln102Glu, NP_001157164.1:p.Gln102Ter, NP_001157164.1:p.Gln102Glu

Select item 14856481466.

rs1485648146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65099661 (GRCh38)
15:65391999 (GRCh37)
Canonical SPDI:: NC_000015.10:65099660:G:A
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65099661G>A, NC_000015.9:g.65391999G>A, XM_011521547.4:c.753C>T, XM_011521547.3:c.753C>T, XM_011521547.2:c.753C>T, XM_011521547.1:c.753C>T, XM_017022172.3:c.753C>T, XM_017022172.2:c.753C>T, XM_017022172.1:c.753C>T, NM_001163692.2:c.753C>T, NM_001163692.1:c.753C>T

Select item 14839691337.

rs1483969133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:65106117 (GRCh38)
15:65398455 (GRCh37)
Canonical SPDI:: NC_000015.10:65106116:C:G
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.65106117C>G, NC_000015.9:g.65398455C>G, XM_011521547.4:c.99G>C, XM_011521547.3:c.99G>C, XM_011521547.2:c.99G>C, XM_011521547.1:c.99G>C, XM_017022172.3:c.99G>C, XM_017022172.2:c.99G>C, XM_017022172.1:c.99G>C, NM_001163692.2:c.99G>C, NM_001163692.1:c.99G>C

Select item 14781835898.

rs1478183589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65102508 (GRCh38)
15:65394846 (GRCh37)
Canonical SPDI:: NC_000015.10:65102507:G:A
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000015.10:g.65102508G>A, NC_000015.9:g.65394846G>A, XM_011521547.4:c.297C>T, XM_011521547.3:c.297C>T, XM_011521547.2:c.297C>T, XM_011521547.1:c.297C>T, XM_017022172.3:c.297C>T, XM_017022172.2:c.297C>T, XM_017022172.1:c.297C>T, NM_001163692.2:c.297C>T, NM_001163692.1:c.297C>T

Select item 14775492159.

rs1477549215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65106109 (GRCh38)
15:65398447 (GRCh37)
Canonical SPDI:: NC_000015.10:65106108:A:G
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65106109A>G, NC_000015.9:g.65398447A>G, XM_011521547.4:c.107T>C, XM_011521547.3:c.107T>C, XM_011521547.2:c.107T>C, XM_011521547.1:c.107T>C, XM_017022172.3:c.107T>C, XM_017022172.2:c.107T>C, XM_017022172.1:c.107T>C, NM_001163692.2:c.107T>C, NM_001163692.1:c.107T>C, XP_011519849.1:p.Leu36Pro, XP_016877661.1:p.Leu36Pro, NP_001157164.1:p.Leu36Pro

Select item 147611352210.

rs1476113522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:65102397 (GRCh38)
15:65394735 (GRCh37)
Canonical SPDI:: NC_000015.10:65102396:G:A,NC_000015.10:65102396:G:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.65102397G>A, NC_000015.10:g.65102397G>T, NC_000015.9:g.65394735G>A, NC_000015.9:g.65394735G>T, XM_011521547.4:c.408C>T, XM_011521547.4:c.408C>A, XM_011521547.3:c.408C>T, XM_011521547.3:c.408C>A, XM_011521547.2:c.408C>T, XM_011521547.2:c.408C>A, XM_011521547.1:c.408C>T, XM_011521547.1:c.408C>A, XM_017022172.3:c.408C>T, XM_017022172.3:c.408C>A, XM_017022172.2:c.408C>T, XM_017022172.2:c.408C>A, XM_017022172.1:c.408C>T, XM_017022172.1:c.408C>A, NM_001163692.2:c.408C>T, NM_001163692.2:c.408C>A, NM_001163692.1:c.408C>T, NM_001163692.1:c.408C>A

Select item 147513245911.

rs1475132459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:65099576 (GRCh38)
15:65391914 (GRCh37)
Canonical SPDI:: NC_000015.10:65099575:C:A,NC_000015.10:65099575:C:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.65099576C>A, NC_000015.10:g.65099576C>T, NC_000015.9:g.65391914C>A, NC_000015.9:g.65391914C>T, XM_011521547.4:c.838G>T, XM_011521547.4:c.838G>A, XM_011521547.3:c.838G>T, XM_011521547.3:c.838G>A, XM_011521547.2:c.838G>T, XM_011521547.2:c.838G>A, XM_011521547.1:c.838G>T, XM_011521547.1:c.838G>A, XM_017022172.3:c.838G>T, XM_017022172.3:c.838G>A, XM_017022172.2:c.838G>T, XM_017022172.2:c.838G>A, XM_017022172.1:c.838G>T, XM_017022172.1:c.838G>A, NM_001163692.2:c.838G>T, NM_001163692.2:c.838G>A, NM_001163692.1:c.838G>T, NM_001163692.1:c.838G>A, XP_011519849.1:p.Val280Phe, XP_011519849.1:p.Val280Ile, XP_016877661.1:p.Val280Phe, XP_016877661.1:p.Val280Ile, NP_001157164.1:p.Val280Phe, NP_001157164.1:p.Val280Ile

Select item 147055425912.

rs1470554259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:65102231 (GRCh38)
15:65394569 (GRCh37)
Canonical SPDI:: NC_000015.10:65102230:G:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.65102231G>T, NC_000015.9:g.65394569G>T, XM_011521547.4:c.574C>A, XM_011521547.3:c.574C>A, XM_011521547.2:c.574C>A, XM_011521547.1:c.574C>A, XM_017022172.3:c.574C>A, XM_017022172.2:c.574C>A, XM_017022172.1:c.574C>A, NM_001163692.2:c.574C>A, NM_001163692.1:c.574C>A, XP_011519849.1:p.Gln192Lys, XP_016877661.1:p.Gln192Lys, NP_001157164.1:p.Gln192Lys

Select item 146989429913.

rs1469894299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65102106 (GRCh38)
15:65394444 (GRCh37)
Canonical SPDI:: NC_000015.10:65102105:C:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.65102106C>T, NC_000015.9:g.65394444C>T, XM_011521547.4:c.699G>A, XM_011521547.3:c.699G>A, XM_011521547.2:c.699G>A, XM_011521547.1:c.699G>A, XM_017022172.3:c.699G>A, XM_017022172.2:c.699G>A, XM_017022172.1:c.699G>A, NM_001163692.2:c.699G>A, NM_001163692.1:c.699G>A

Select item 146933346514.

rs1469333465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65106135 (GRCh38)
15:65398473 (GRCh37)
Canonical SPDI:: NC_000015.10:65106134:G:A
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.65106135G>A, NC_000015.9:g.65398473G>A, XM_011521547.4:c.81C>T, XM_011521547.3:c.81C>T, XM_011521547.2:c.81C>T, XM_011521547.1:c.81C>T, XM_017022172.3:c.81C>T, XM_017022172.2:c.81C>T, XM_017022172.1:c.81C>T, NM_001163692.2:c.81C>T, NM_001163692.1:c.81C>T

Select item 146873597915.

rs1468735979 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:65102602 (GRCh38)
15:65394940 (GRCh37)
Canonical SPDI:: NC_000015.10:65102601:GGG:GG
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000447/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.65102604del, NC_000015.9:g.65394942del, XM_011521547.4:c.203del, XM_011521547.3:c.203del, XM_011521547.2:c.203del, XM_011521547.1:c.203del, XM_017022172.3:c.203del, XM_017022172.2:c.203del, XM_017022172.1:c.203del, NM_001163692.2:c.203del, NM_001163692.1:c.203del, XP_011519849.1:p.Pro68fs, XP_016877661.1:p.Pro68fs, NP_001157164.1:p.Pro68fs

Select item 146857736816.

rs1468577368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65106101 (GRCh38)
15:65398439 (GRCh37)
Canonical SPDI:: NC_000015.10:65106100:A:G
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65106101A>G, NC_000015.9:g.65398439A>G, XM_011521547.4:c.115T>C, XM_011521547.3:c.115T>C, XM_011521547.2:c.115T>C, XM_011521547.1:c.115T>C, XM_017022172.3:c.115T>C, XM_017022172.2:c.115T>C, XM_017022172.1:c.115T>C, NM_001163692.2:c.115T>C, NM_001163692.1:c.115T>C, XP_011519849.1:p.Ser39Pro, XP_016877661.1:p.Ser39Pro, NP_001157164.1:p.Ser39Pro

Select item 146857217217.

rs1468572172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65102326 (GRCh38)
15:65394664 (GRCh37)
Canonical SPDI:: NC_000015.10:65102325:C:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.65102326C>T, NC_000015.9:g.65394664C>T, XM_011521547.4:c.479G>A, XM_011521547.3:c.479G>A, XM_011521547.2:c.479G>A, XM_011521547.1:c.479G>A, XM_017022172.3:c.479G>A, XM_017022172.2:c.479G>A, XM_017022172.1:c.479G>A, NM_001163692.2:c.479G>A, NM_001163692.1:c.479G>A, XP_011519849.1:p.Arg160Gln, XP_016877661.1:p.Arg160Gln, NP_001157164.1:p.Arg160Gln

Select item 146777527018.

rs1467775270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65102371 (GRCh38)
15:65394709 (GRCh37)
Canonical SPDI:: NC_000015.10:65102370:A:G
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65102371A>G, NC_000015.9:g.65394709A>G, XM_011521547.4:c.434T>C, XM_011521547.3:c.434T>C, XM_011521547.2:c.434T>C, XM_011521547.1:c.434T>C, XM_017022172.3:c.434T>C, XM_017022172.2:c.434T>C, XM_017022172.1:c.434T>C, NM_001163692.2:c.434T>C, NM_001163692.1:c.434T>C, XP_011519849.1:p.Leu145Pro, XP_016877661.1:p.Leu145Pro, NP_001157164.1:p.Leu145Pro

Select item 146761841619.

rs1467618416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:65093141 (GRCh38)
15:65385479 (GRCh37)
Canonical SPDI:: NC_000015.10:65093140:G:A,NC_000015.10:65093140:G:T
Gene:: UBAP1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.65093141G>A, NC_000015.10:g.65093141G>T, NC_000015.9:g.65385479G>A, NC_000015.9:g.65385479G>T, XM_011521547.4:c.1290C>T, XM_011521547.4:c.1290C>A, XM_011521547.3:c.1290C>T, XM_011521547.3:c.1290C>A, XM_011521547.2:c.1290C>T, XM_011521547.2:c.1290C>A, XM_011521547.1:c.1290C>T, XM_011521547.1:c.1290C>A, XM_017022172.3:c.*5925C>T, XM_017022172.3:c.*5925C>A, XM_017022172.2:c.*5925C>T, XM_017022172.2:c.*5925C>A, XM_017022172.1:c.*5925C>T, XM_017022172.1:c.*5925C>A, NM_001163692.2:c.1102C>T, NM_001163692.2:c.1102C>A, NM_001163692.1:c.1102C>T, NM_001163692.1:c.1102C>A, NP_001157164.1:p.Arg368Cys, NP_001157164.1:p.Arg368Ser

Select item 146689898320.

rs1466898983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:65099592 (GRCh38)
15:65391930 (GRCh37)
Canonical SPDI:: NC_000015.10:65099591:G:A,NC_000015.10:65099591:G:T
Gene:: UBAP1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.65099592G>A, NC_000015.10:g.65099592G>T, NC_000015.9:g.65391930G>A, NC_000015.9:g.65391930G>T, XM_011521547.4:c.822C>T, XM_011521547.4:c.822C>A, XM_011521547.3:c.822C>T, XM_011521547.3:c.822C>A, XM_011521547.2:c.822C>T, XM_011521547.2:c.822C>A, XM_011521547.1:c.822C>T, XM_011521547.1:c.822C>A, XM_017022172.3:c.822C>T, XM_017022172.3:c.822C>A, XM_017022172.2:c.822C>T, XM_017022172.2:c.822C>A, XM_017022172.1:c.822C>T, XM_017022172.1:c.822C>A, NM_001163692.2:c.822C>T, NM_001163692.2:c.822C>A, NM_001163692.1:c.822C>T, NM_001163692.1:c.822C>A, XP_011519849.1:p.Asp274Glu, XP_016877661.1:p.Asp274Glu, NP_001157164.1:p.Asp274Glu

dbSNP

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