SNP Links for Protein (Select 815891046) - SNP

Links from Protein

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Select item 14888535561.

rs1488853556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4292696 (GRCh38)
19:4292693 (GRCh37)
Canonical SPDI:: NC_000019.10:4292695:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4292696C>T, NC_000019.9:g.4292693C>T, NM_144615.3:c.752G>A, NM_144615.2:c.752G>A, NM_001169126.2:c.740G>A, NM_001169126.1:c.740G>A, NM_001308232.2:c.392G>A, NM_001308232.1:c.392G>A, NR_172632.1:n.880G>A, NR_172630.1:n.862G>A, NM_001395549.1:c.638G>A, NR_172631.1:n.538G>A, NP_653216.2:p.Arg251Lys, NP_001162597.1:p.Arg247Lys, NP_001295161.1:p.Arg131Lys, NP_001382478.1:p.Arg213Lys

Select item 14844676072.

rs1484467607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4292872 (GRCh38)
19:4292869 (GRCh37)
Canonical SPDI:: NC_000019.10:4292871:G:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_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_000019.10:g.4292872G>A, NC_000019.9:g.4292869G>A, NM_144615.3:c.576C>T, NM_144615.2:c.576C>T, NM_001169126.2:c.564C>T, NM_001169126.1:c.564C>T, NM_001308232.2:c.216C>T, NM_001308232.1:c.216C>T, NR_172632.1:n.704C>T, NR_172630.1:n.686C>T, NM_001395549.1:c.462C>T, NR_172631.1:n.362C>T

Select item 14815007663.

rs1481500766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4292623 (GRCh38)
19:4292620 (GRCh37)
Canonical SPDI:: NC_000019.10:4292622:C:A,NC_000019.10:4292622:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4292623C>A, NC_000019.10:g.4292623C>T, NC_000019.9:g.4292620C>A, NC_000019.9:g.4292620C>T, NM_144615.3:c.825G>T, NM_144615.3:c.825G>A, NM_144615.2:c.825G>T, NM_144615.2:c.825G>A, NM_001169126.2:c.813G>T, NM_001169126.2:c.813G>A, NM_001169126.1:c.813G>T, NM_001169126.1:c.813G>A, NM_001308232.2:c.465G>T, NM_001308232.2:c.465G>A, NM_001308232.1:c.465G>T, NM_001308232.1:c.465G>A, NR_172632.1:n.953G>T, NR_172632.1:n.953G>A, NR_172630.1:n.935G>T, NR_172630.1:n.935G>A, NM_001395549.1:c.711G>T, NM_001395549.1:c.711G>A, NR_172631.1:n.611G>T, NR_172631.1:n.611G>A

Select item 14801204174.

rs1480120417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:4292801 (GRCh38)
19:4292798 (GRCh37)
Canonical SPDI:: NC_000019.10:4292800:T:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_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_000019.10:g.4292801T>A, NC_000019.9:g.4292798T>A, NM_144615.3:c.647A>T, NM_144615.2:c.647A>T, NM_001169126.2:c.635A>T, NM_001169126.1:c.635A>T, NM_001308232.2:c.287A>T, NM_001308232.1:c.287A>T, NR_172632.1:n.775A>T, NR_172630.1:n.757A>T, NM_001395549.1:c.533A>T, NR_172631.1:n.433A>T, NP_653216.2:p.Gln216Leu, NP_001162597.1:p.Gln212Leu, NP_001295161.1:p.Gln96Leu, NP_001382478.1:p.Gln178Leu

Select item 14742651315.

rs1474265131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 19:4294632 (GRCh38)
19:4294630 (GRCh37)
Canonical SPDI:: NC_000019.10:4294632:TC:TCTC
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4294633_4294634dup, NC_000019.9:g.4294630_4294631dup, NM_144615.3:c.495_496dup, NM_144615.2:c.495_496dup, NM_001169126.2:c.495_496dup, NM_001169126.1:c.495_496dup, NM_001308232.2:c.135_136dup, NM_001308232.1:c.135_136dup, NR_172632.1:n.499_500dup, NR_172630.1:n.499_500dup, NR_172631.1:n.139_140dup, XM_047438167.1:c.495_496dup, NP_653216.2:p.Ile166fs, NP_001162597.1:p.Ile166fs, NP_001295161.1:p.Ile46fs, XP_047294123.1:p.Ile166fs

Select item 14722371516.

rs1472237151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4292800 (GRCh38)
19:4292797 (GRCh37)
Canonical SPDI:: NC_000019.10:4292799:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4292800C>T, NC_000019.9:g.4292797C>T, NM_144615.3:c.648G>A, NM_144615.2:c.648G>A, NM_001169126.2:c.636G>A, NM_001169126.1:c.636G>A, NM_001308232.2:c.288G>A, NM_001308232.1:c.288G>A, NR_172632.1:n.776G>A, NR_172630.1:n.758G>A, NM_001395549.1:c.534G>A, NR_172631.1:n.434G>A

Select item 14668748717.

rs1466874871 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 19:4292836 (GRCh38)
19:4292833 (GRCh37)
Canonical SPDI:: NC_000019.10:4292831:TCTTCTT:TCTT
Gene:: TMIGD2 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTT=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.4292833CTT[1], NC_000019.9:g.4292830CTT[1], NM_144615.3:c.611AGA[1], NM_144615.2:c.611AGA[1], NM_001169126.2:c.599AGA[1], NM_001169126.1:c.599AGA[1], NM_001308232.2:c.251AGA[1], NM_001308232.1:c.251AGA[1], NR_172632.1:n.739AGA[1], NR_172630.1:n.721AGA[1], NM_001395549.1:c.497AGA[1], NR_172631.1:n.397AGA[1], NP_653216.2:p.Lys205del, NP_001162597.1:p.Lys201del, NP_001295161.1:p.Lys85del, NP_001382478.1:p.Lys167del

Select item 14644162768.

rs1464416276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4294624 (GRCh38)
19:4294621 (GRCh37)
Canonical SPDI:: NC_000019.10:4294623:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.4294624C>T, NC_000019.9:g.4294621C>T, NM_144615.3:c.505G>A, NM_144615.2:c.505G>A, NM_001169126.2:c.505G>A, NM_001169126.1:c.505G>A, NM_001308232.2:c.145G>A, NM_001308232.1:c.145G>A, NR_172632.1:n.509G>A, NR_172630.1:n.509G>A, NR_172631.1:n.149G>A, XM_047438167.1:c.505G>A, NP_653216.2:p.Gly169Ser, NP_001162597.1:p.Gly169Ser, NP_001295161.1:p.Gly49Ser, XP_047294123.1:p.Gly169Ser

Select item 14638377579.

rs1463837757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4292665 (GRCh38)
19:4292662 (GRCh37)
Canonical SPDI:: NC_000019.10:4292664:G:C
Gene:: TMIGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4292665G>C, NC_000019.9:g.4292662G>C, NM_144615.3:c.783C>G, NM_144615.2:c.783C>G, NM_001169126.2:c.771C>G, NM_001169126.1:c.771C>G, NM_001308232.2:c.423C>G, NM_001308232.1:c.423C>G, NR_172632.1:n.911C>G, NR_172630.1:n.893C>G, NM_001395549.1:c.669C>G, NR_172631.1:n.569C>G

Select item 146028630310.

rs1460286303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:4294589 (GRCh38)
19:4294586 (GRCh37)
Canonical SPDI:: NC_000019.10:4294588:T:G
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4294589T>G, NC_000019.9:g.4294586T>G, NM_144615.3:c.540A>C, NM_144615.2:c.540A>C, NM_001169126.2:c.540A>C, NM_001169126.1:c.540A>C, NM_001308232.2:c.180A>C, NM_001308232.1:c.180A>C, NR_172632.1:n.544A>C, NR_172630.1:n.544A>C, NR_172631.1:n.184A>C, XM_047438167.1:c.540A>C, NP_653216.2:p.Gln180His, NP_001162597.1:p.Gln180His, NP_001295161.1:p.Gln60His, XP_047294123.1:p.Gln180His

Select item 146007744511.

rs1460077445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4302352 (GRCh38)
19:4302349 (GRCh37)
Canonical SPDI:: NC_000019.10:4302351:C:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4302352C>A, NC_000019.9:g.4302349C>A, NM_144615.3:c.34G>T, NM_144615.2:c.34G>T, NM_001169126.2:c.34G>T, NM_001169126.1:c.34G>T, NM_001308232.2:c.34G>T, NM_001308232.1:c.34G>T, NR_172632.1:n.38G>T, NR_172630.1:n.38G>T, NM_001395549.1:c.34G>T, NR_172631.1:n.38G>T, XM_047438167.1:c.34G>T, NP_653216.2:p.Val12Leu, NP_001162597.1:p.Val12Leu, NP_001295161.1:p.Val12Leu, NP_001382478.1:p.Val12Leu, XP_047294123.1:p.Val12Leu

Select item 145092170112.

rs1450921701 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:4294603 (GRCh38)
19:4294600 (GRCh37)
Canonical SPDI:: NC_000019.10:4294602:GG:G
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000051/1 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4294604del, NC_000019.9:g.4294601del, NM_144615.3:c.526del, NM_144615.2:c.526del, NM_001169126.2:c.526del, NM_001169126.1:c.526del, NM_001308232.2:c.166del, NM_001308232.1:c.166del, NR_172632.1:n.530del, NR_172630.1:n.530del, NR_172631.1:n.170del, XM_047438167.1:c.526del, NP_653216.2:p.Arg176fs, NP_001162597.1:p.Arg176fs, NP_001295161.1:p.Arg56fs, XP_047294123.1:p.Arg176fs

Select item 145091400913.

rs1450914009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4292612 (GRCh38)
19:4292609 (GRCh37)
Canonical SPDI:: NC_000019.10:4292611:A:G
Gene:: TMIGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.4292612A>G, NC_000019.9:g.4292609A>G, NM_144615.3:c.836T>C, NM_144615.2:c.836T>C, NM_001169126.2:c.824T>C, NM_001169126.1:c.824T>C, NM_001308232.2:c.476T>C, NM_001308232.1:c.476T>C, NR_172632.1:n.964T>C, NR_172630.1:n.946T>C, NM_001395549.1:c.722T>C, NR_172631.1:n.622T>C, NP_653216.2:p.Val279Ala, NP_001162597.1:p.Val275Ala, NP_001295161.1:p.Val159Ala, NP_001382478.1:p.Val241Ala

Select item 144750336714.

rs1447503367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4292826 (GRCh38)
19:4292823 (GRCh37)
Canonical SPDI:: NC_000019.10:4292825:C:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4292826C>A, NC_000019.9:g.4292823C>A, NM_144615.3:c.622G>T, NM_144615.2:c.622G>T, NM_001169126.2:c.610G>T, NM_001169126.1:c.610G>T, NM_001308232.2:c.262G>T, NM_001308232.1:c.262G>T, NR_172632.1:n.750G>T, NR_172630.1:n.732G>T, NM_001395549.1:c.508G>T, NR_172631.1:n.408G>T, NP_653216.2:p.Asp208Tyr, NP_001162597.1:p.Asp204Tyr, NP_001295161.1:p.Asp88Tyr, NP_001382478.1:p.Asp170Tyr

Select item 144221960715.

rs1442219607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4292852 (GRCh38)
19:4292849 (GRCh37)
Canonical SPDI:: NC_000019.10:4292851:G:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4292852G>A, NC_000019.9:g.4292849G>A, NM_144615.3:c.596C>T, NM_144615.2:c.596C>T, NM_001169126.2:c.584C>T, NM_001169126.1:c.584C>T, NM_001308232.2:c.236C>T, NM_001308232.1:c.236C>T, NR_172632.1:n.724C>T, NR_172630.1:n.706C>T, NM_001395549.1:c.482C>T, NR_172631.1:n.382C>T, NP_653216.2:p.Pro199Leu, NP_001162597.1:p.Pro195Leu, NP_001295161.1:p.Pro79Leu, NP_001382478.1:p.Pro161Leu

Select item 143986827816.

rs1439868278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4302367 (GRCh38)
19:4302364 (GRCh37)
Canonical SPDI:: NC_000019.10:4302366:C:A,NC_000019.10:4302366:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4302367C>A, NC_000019.10:g.4302367C>T, NC_000019.9:g.4302364C>A, NC_000019.9:g.4302364C>T, NM_144615.3:c.19G>T, NM_144615.3:c.19G>A, NM_144615.2:c.19G>T, NM_144615.2:c.19G>A, NM_001169126.2:c.19G>T, NM_001169126.2:c.19G>A, NM_001169126.1:c.19G>T, NM_001169126.1:c.19G>A, NM_001308232.2:c.19G>T, NM_001308232.2:c.19G>A, NM_001308232.1:c.19G>T, NM_001308232.1:c.19G>A, NR_172632.1:n.23G>T, NR_172632.1:n.23G>A, NR_172630.1:n.23G>T, NR_172630.1:n.23G>A, NM_001395549.1:c.19G>T, NM_001395549.1:c.19G>A, NR_172631.1:n.23G>T, NR_172631.1:n.23G>A, XM_047438167.1:c.19G>T, XM_047438167.1:c.19G>A, NP_653216.2:p.Val7Leu, NP_653216.2:p.Val7Met, NP_001162597.1:p.Val7Leu, NP_001162597.1:p.Val7Met, NP_001295161.1:p.Val7Leu, NP_001295161.1:p.Val7Met, NP_001382478.1:p.Val7Leu, NP_001382478.1:p.Val7Met, XP_047294123.1:p.Val7Leu, XP_047294123.1:p.Val7Met

Select item 143512456817.

rs1435124568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4292719 (GRCh38)
19:4292716 (GRCh37)
Canonical SPDI:: NC_000019.10:4292718:G:A
Gene:: TMIGD2 (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=0.000045/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4292719G>A, NC_000019.9:g.4292716G>A, NM_144615.3:c.729C>T, NM_144615.2:c.729C>T, NM_001169126.2:c.717C>T, NM_001169126.1:c.717C>T, NM_001308232.2:c.369C>T, NM_001308232.1:c.369C>T, NR_172632.1:n.857C>T, NR_172630.1:n.839C>T, NM_001395549.1:c.615C>T, NR_172631.1:n.515C>T

Select item 142936907518.

rs1429369075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4294594 (GRCh38)
19:4294591 (GRCh37)
Canonical SPDI:: NC_000019.10:4294593:G:C
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000019.10:g.4294594G>C, NC_000019.9:g.4294591G>C, NM_144615.3:c.535C>G, NM_144615.2:c.535C>G, NM_001169126.2:c.535C>G, NM_001169126.1:c.535C>G, NM_001308232.2:c.175C>G, NM_001308232.1:c.175C>G, NR_172632.1:n.539C>G, NR_172630.1:n.539C>G, NR_172631.1:n.179C>G, XM_047438167.1:c.535C>G, NP_653216.2:p.Gln179Glu, NP_001162597.1:p.Gln179Glu, NP_001295161.1:p.Gln59Glu, XP_047294123.1:p.Gln179Glu

Select item 141877406619.

rs1418774066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4292645 (GRCh38)
19:4292642 (GRCh37)
Canonical SPDI:: NC_000019.10:4292644:G:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4292645G>A, NC_000019.9:g.4292642G>A, NM_144615.3:c.803C>T, NM_144615.2:c.803C>T, NM_001169126.2:c.791C>T, NM_001169126.1:c.791C>T, NM_001308232.2:c.443C>T, NM_001308232.1:c.443C>T, NR_172632.1:n.931C>T, NR_172630.1:n.913C>T, NM_001395549.1:c.689C>T, NR_172631.1:n.589C>T, NP_653216.2:p.Thr268Ile, NP_001162597.1:p.Thr264Ile, NP_001295161.1:p.Thr148Ile, NP_001382478.1:p.Thr230Ile

Select item 141614935320.

rs1416149353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:4292814 (GRCh38)
19:4292811 (GRCh37)
Canonical SPDI:: NC_000019.10:4292813:C:G
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4292814C>G, NC_000019.9:g.4292811C>G, NM_144615.3:c.634G>C, NM_144615.2:c.634G>C, NM_001169126.2:c.622G>C, NM_001169126.1:c.622G>C, NM_001308232.2:c.274G>C, NM_001308232.1:c.274G>C, NR_172632.1:n.762G>C, NR_172630.1:n.744G>C, NM_001395549.1:c.520G>C, NR_172631.1:n.420G>C, NP_653216.2:p.Glu212Gln, NP_001162597.1:p.Glu208Gln, NP_001295161.1:p.Glu92Gln, NP_001382478.1:p.Glu174Gln

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