SNP Links for Protein (Select 578800799) - SNP

Links from Protein

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Select item 14830231651.

rs1483023165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167935828 (GRCh38)
1:167905066 (GRCh37)
Canonical SPDI:: NC_000001.11:167935827:C:T
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167935828C>T, NC_000001.10:g.167905066C>T, NG_053062.1:g.4590C>T, XM_006711266.4:c.14G>A, XM_006711266.3:c.14G>A, XM_006711266.2:c.14G>A, XM_006711266.1:c.14G>A, NM_001143674.4:c.14G>A, NM_001143674.3:c.14G>A, NM_001143674.2:c.14G>A, NR_026550.3:n.169G>A, NR_026550.2:n.374G>A, NM_015415.3:c.14G>A, XP_006711329.1:p.Gly5Asp, NP_001137146.1:p.Gly5Asp, NP_056230.1:p.Gly5Asp

Select item 14653934482.

rs1465393448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167935766 (GRCh38)
1:167905004 (GRCh37)
Canonical SPDI:: NC_000001.11:167935765:C:G
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167935766C>G, NC_000001.10:g.167905004C>G, NG_053062.1:g.4528C>G, XM_006711266.4:c.76G>C, XM_006711266.3:c.76G>C, XM_006711266.2:c.76G>C, XM_006711266.1:c.76G>C, NM_001143674.4:c.76G>C, NM_001143674.3:c.76G>C, NM_001143674.2:c.76G>C, NR_026550.3:n.231G>C, NR_026550.2:n.436G>C, NM_015415.3:c.76G>C, XP_006711329.1:p.Glu26Gln, NP_001137146.1:p.Glu26Gln, NP_056230.1:p.Glu26Gln

Select item 14648008463.

rs1464800846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167920625 (GRCh38)
1:167889863 (GRCh37)
Canonical SPDI:: NC_000001.11:167920624:C:G
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.167920625C>G, NC_000001.10:g.167889863C>G, XM_006711266.4:c.157G>C, XM_006711266.3:c.157G>C, XM_006711266.2:c.157G>C, XM_006711266.1:c.157G>C, NM_001143674.4:c.157G>C, NM_001143674.3:c.157G>C, NM_001143674.2:c.157G>C, NR_026550.3:n.312G>C, NR_026550.2:n.517G>C, NM_015415.3:c.157G>C, XP_006711329.1:p.Val53Leu, NP_001137146.1:p.Val53Leu, NP_056230.1:p.Val53Leu

Select item 14560471894.

rs1456047189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:167935780 (GRCh38)
1:167905018 (GRCh37)
Canonical SPDI:: NC_000001.11:167935779:T:C
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167935780T>C, NC_000001.10:g.167905018T>C, NG_053062.1:g.4542T>C, XM_006711266.4:c.62A>G, XM_006711266.3:c.62A>G, XM_006711266.2:c.62A>G, XM_006711266.1:c.62A>G, NM_001143674.4:c.62A>G, NM_001143674.3:c.62A>G, NM_001143674.2:c.62A>G, NR_026550.3:n.217A>G, NR_026550.2:n.422A>G, NM_015415.3:c.62A>G, XP_006711329.1:p.Glu21Gly, NP_001137146.1:p.Glu21Gly, NP_056230.1:p.Glu21Gly

Select item 14532151345.

rs1453215134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167920611 (GRCh38)
1:167889849 (GRCh37)
Canonical SPDI:: NC_000001.11:167920610:C:T
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.167920611C>T, NC_000001.10:g.167889849C>T, XM_006711266.4:c.171G>A, XM_006711266.3:c.171G>A, XM_006711266.2:c.171G>A, XM_006711266.1:c.171G>A, NM_001143674.4:c.171G>A, NM_001143674.3:c.171G>A, NM_001143674.2:c.171G>A, NR_026550.3:n.326G>A, NR_026550.2:n.531G>A, NM_015415.3:c.171G>A

Select item 14527198006.

rs1452719800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:167920565 (GRCh38)
1:167889803 (GRCh37)
Canonical SPDI:: NC_000001.11:167920564:C:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.167920565C>A, NC_000001.10:g.167889803C>A, XM_006711266.4:c.217G>T, XM_006711266.3:c.217G>T, XM_006711266.2:c.217G>T, XM_006711266.1:c.217G>T, NM_001143674.4:c.217G>T, NM_001143674.3:c.217G>T, NM_001143674.2:c.217G>T, NR_026550.3:n.372G>T, NR_026550.2:n.577G>T, NM_015415.3:c.217G>T, XP_006711329.1:p.Ala73Ser, NP_001137146.1:p.Ala73Ser, NP_056230.1:p.Ala73Ser

Select item 14527111117.

rs1452711111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:167920556 (GRCh38)
1:167889794 (GRCh37)
Canonical SPDI:: NC_000001.11:167920555:T:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167920556T>A, NC_000001.10:g.167889794T>A, XM_006711266.4:c.226A>T, XM_006711266.3:c.226A>T, XM_006711266.2:c.226A>T, XM_006711266.1:c.226A>T, NM_001143674.4:c.226A>T, NM_001143674.3:c.226A>T, NM_001143674.2:c.226A>T, NR_026550.3:n.381A>T, NR_026550.2:n.586A>T, NM_015415.3:c.226A>T, XP_006711329.1:p.Met76Leu, NP_001137146.1:p.Met76Leu, NP_056230.1:p.Met76Leu

Select item 14423500198.

rs1442350019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167920589 (GRCh38)
1:167889827 (GRCh37)
Canonical SPDI:: NC_000001.11:167920588:C:G
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167920589C>G, NC_000001.10:g.167889827C>G, XM_006711266.4:c.193G>C, XM_006711266.3:c.193G>C, XM_006711266.2:c.193G>C, XM_006711266.1:c.193G>C, NM_001143674.4:c.193G>C, NM_001143674.3:c.193G>C, NM_001143674.2:c.193G>C, NR_026550.3:n.348G>C, NR_026550.2:n.553G>C, NM_015415.3:c.193G>C, XP_006711329.1:p.Glu65Gln, NP_001137146.1:p.Glu65Gln, NP_056230.1:p.Glu65Gln

Select item 14236495639.

rs1423649563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:167935776 (GRCh38)
1:167905014 (GRCh37)
Canonical SPDI:: NC_000001.11:167935775:C:G,NC_000001.11:167935775:C:T
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.167935776C>G, NC_000001.11:g.167935776C>T, NC_000001.10:g.167905014C>G, NC_000001.10:g.167905014C>T, NG_053062.1:g.4538C>G, NG_053062.1:g.4538C>T, XM_006711266.4:c.66G>C, XM_006711266.4:c.66G>A, XM_006711266.3:c.66G>C, XM_006711266.3:c.66G>A, XM_006711266.2:c.66G>C, XM_006711266.2:c.66G>A, XM_006711266.1:c.66G>C, XM_006711266.1:c.66G>A, NM_001143674.4:c.66G>C, NM_001143674.4:c.66G>A, NM_001143674.3:c.66G>C, NM_001143674.3:c.66G>A, NM_001143674.2:c.66G>C, NM_001143674.2:c.66G>A, NR_026550.3:n.221G>C, NR_026550.3:n.221G>A, NR_026550.2:n.426G>C, NR_026550.2:n.426G>A, NM_015415.3:c.66G>C, NM_015415.3:c.66G>A

Select item 140479758810.

rs1404797588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167918333 (GRCh38)
1:167887571 (GRCh37)
Canonical SPDI:: NC_000001.11:167918332:G:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167918333G>A, NC_000001.10:g.167887571G>A, NG_016139.2:g.801C>T, NG_016139.1:g.883C>T, XM_006711266.4:c.374C>T, XM_006711266.3:c.374C>T, XM_006711266.2:c.374C>T, XM_006711266.1:c.374C>T, NM_001143674.4:c.374C>T, NM_001143674.3:c.374C>T, NM_001143674.2:c.374C>T, NR_026550.3:n.529C>T, NR_026550.2:n.734C>T, NM_015415.3:c.374C>T, XP_006711329.1:p.Ala125Val, NP_001137146.1:p.Ala125Val, NP_056230.1:p.Ala125Val

Select item 139642200211.

rs1396422002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167935797 (GRCh38)
1:167905035 (GRCh37)
Canonical SPDI:: NC_000001.11:167935796:C:G
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.167935797C>G, NC_000001.10:g.167905035C>G, NG_053062.1:g.4559C>G, XM_006711266.4:c.45G>C, XM_006711266.3:c.45G>C, XM_006711266.2:c.45G>C, XM_006711266.1:c.45G>C, NM_001143674.4:c.45G>C, NM_001143674.3:c.45G>C, NM_001143674.2:c.45G>C, NR_026550.3:n.200G>C, NR_026550.2:n.405G>C, NM_015415.3:c.45G>C

Select item 139366899512.

rs1393668995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167920576 (GRCh38)
1:167889814 (GRCh37)
Canonical SPDI:: NC_000001.11:167920575:G:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.167920576G>A, NC_000001.10:g.167889814G>A, XM_006711266.4:c.206C>T, XM_006711266.3:c.206C>T, XM_006711266.2:c.206C>T, XM_006711266.1:c.206C>T, NM_001143674.4:c.206C>T, NM_001143674.3:c.206C>T, NM_001143674.2:c.206C>T, NR_026550.3:n.361C>T, NR_026550.2:n.566C>T, NM_015415.3:c.206C>T, XP_006711329.1:p.Thr69Ile, NP_001137146.1:p.Thr69Ile, NP_056230.1:p.Thr69Ile

Select item 138077147613.

rs1380771476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167935791 (GRCh38)
1:167905029 (GRCh37)
Canonical SPDI:: NC_000001.11:167935790:G:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.167935791G>A, NC_000001.10:g.167905029G>A, NG_053062.1:g.4553G>A, XM_006711266.4:c.51C>T, XM_006711266.3:c.51C>T, XM_006711266.2:c.51C>T, XM_006711266.1:c.51C>T, NM_001143674.4:c.51C>T, NM_001143674.3:c.51C>T, NM_001143674.2:c.51C>T, NR_026550.3:n.206C>T, NR_026550.2:n.411C>T, NM_015415.3:c.51C>T

Select item 137974288914.

rs1379742889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:167920009 (GRCh38)
1:167889247 (GRCh37)
Canonical SPDI:: NC_000001.11:167920008:G:C
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.167920009G>C, NC_000001.10:g.167889247G>C, XM_006711266.4:c.317C>G, XM_006711266.3:c.317C>G, XM_006711266.2:c.317C>G, XM_006711266.1:c.317C>G, NM_001143674.4:c.317C>G, NM_001143674.3:c.317C>G, NM_001143674.2:c.317C>G, NR_026550.3:n.472C>G, NR_026550.2:n.677C>G, NM_015415.3:c.317C>G, XP_006711329.1:p.Ala106Gly, NP_001137146.1:p.Ala106Gly, NP_056230.1:p.Ala106Gly

Select item 137821555615.

rs1378215556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:167924537 (GRCh38)
1:167893775 (GRCh37)
Canonical SPDI:: NC_000001.11:167924536:C:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/2 (ALFA)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167924537C>A, NC_000001.10:g.167893775C>A, XM_006711266.4:c.110G>T, XM_006711266.3:c.110G>T, XM_006711266.2:c.110G>T, XM_006711266.1:c.110G>T, NM_001143674.4:c.110G>T, NM_001143674.3:c.110G>T, NM_001143674.2:c.110G>T, NR_026550.3:n.265G>T, NR_026550.2:n.470G>T, NM_015415.3:c.110G>T, XP_006711329.1:p.Gly37Val, NP_001137146.1:p.Gly37Val, NP_056230.1:p.Gly37Val

Select item 137796028916.

rs1377960289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167935794 (GRCh38)
1:167905032 (GRCh37)
Canonical SPDI:: NC_000001.11:167935793:G:A
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.167935794G>A, NC_000001.10:g.167905032G>A, NG_053062.1:g.4556G>A, XM_006711266.4:c.48C>T, XM_006711266.3:c.48C>T, XM_006711266.2:c.48C>T, XM_006711266.1:c.48C>T, NM_001143674.4:c.48C>T, NM_001143674.3:c.48C>T, NM_001143674.2:c.48C>T, NR_026550.3:n.203C>T, NR_026550.2:n.408C>T, NM_015415.3:c.48C>T

Select item 136948856617.

rs1369488566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:167924532 (GRCh38)
1:167893770 (GRCh37)
Canonical SPDI:: NC_000001.11:167924531:T:C
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.167924532T>C, NC_000001.10:g.167893770T>C, XM_006711266.4:c.115A>G, XM_006711266.3:c.115A>G, XM_006711266.2:c.115A>G, XM_006711266.1:c.115A>G, NM_001143674.4:c.115A>G, NM_001143674.3:c.115A>G, NM_001143674.2:c.115A>G, NR_026550.3:n.270A>G, NR_026550.2:n.475A>G, NM_015415.3:c.115A>G, XP_006711329.1:p.Arg39Gly, NP_001137146.1:p.Arg39Gly, NP_056230.1:p.Arg39Gly

Select item 136762884518.

rs1367628845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167920610 (GRCh38)
1:167889848 (GRCh37)
Canonical SPDI:: NC_000001.11:167920609:C:T
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.167920610C>T, NC_000001.10:g.167889848C>T, XM_006711266.4:c.172G>A, XM_006711266.3:c.172G>A, XM_006711266.2:c.172G>A, XM_006711266.1:c.172G>A, NM_001143674.4:c.172G>A, NM_001143674.3:c.172G>A, NM_001143674.2:c.172G>A, NR_026550.3:n.327G>A, NR_026550.2:n.532G>A, NM_015415.3:c.172G>A, XP_006711329.1:p.Ala58Thr, NP_001137146.1:p.Ala58Thr, NP_056230.1:p.Ala58Thr

Select item 136185733619.

rs1361857336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:167935825 (GRCh38)
1:167905063 (GRCh37)
Canonical SPDI:: NC_000001.11:167935824:G:T
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.167935825G>T, NC_000001.10:g.167905063G>T, NG_053062.1:g.4587G>T, XM_006711266.4:c.17C>A, XM_006711266.3:c.17C>A, XM_006711266.2:c.17C>A, XM_006711266.1:c.17C>A, NM_001143674.4:c.17C>A, NM_001143674.3:c.17C>A, NM_001143674.2:c.17C>A, NR_026550.3:n.172C>A, NR_026550.2:n.377C>A, NM_015415.3:c.17C>A, XP_006711329.1:p.Ala6Asp, NP_001137146.1:p.Ala6Asp, NP_056230.1:p.Ala6Asp

Select item 135243768720.

rs1352437687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167919988 (GRCh38)
1:167889226 (GRCh37)
Canonical SPDI:: NC_000001.11:167919987:C:T
Gene:: MPC2 (Varview), DCAF6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.167919988C>T, NC_000001.10:g.167889226C>T, XM_006711266.4:c.338G>A, XM_006711266.3:c.338G>A, XM_006711266.2:c.338G>A, XM_006711266.1:c.338G>A, NM_001143674.4:c.338G>A, NM_001143674.3:c.338G>A, NM_001143674.2:c.338G>A, NR_026550.3:n.493G>A, NR_026550.2:n.698G>A, NM_015415.3:c.338G>A, XP_006711329.1:p.Arg113His, NP_001137146.1:p.Arg113His, NP_056230.1:p.Arg113His

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