SNP Links for Protein (Select 312434013) - SNP

Links from Protein

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Select item 14893532351.

rs1489353235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49821408 (GRCh38)
17:47898770 (GRCh37)
Canonical SPDI:: NC_000017.11:49821407:G:A
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49821408G>A, NC_000017.10:g.47898770G>A, NG_051976.1:g.37790G>A, NM_007067.5:c.1227G>A, NM_007067.4:c.1227G>A, NM_001199155.2:c.1137G>A, NM_001199155.1:c.1137G>A, NM_001346706.2:c.987G>A, NM_001346706.1:c.987G>A, NM_001199157.2:c.897G>A, NM_001199157.1:c.897G>A, NM_001199156.2:c.810G>A, NM_001199156.1:c.810G>A, NM_001199158.2:c.720G>A, NM_001199158.1:c.720G>A

Select item 14867555722.

rs1486755572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49791898 (GRCh38)
17:47869260 (GRCh37)
Canonical SPDI:: NC_000017.11:49791897:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49791898A>G, NC_000017.10:g.47869260A>G, NG_051976.1:g.8280A>G, NM_007067.5:c.28A>G, NM_007067.4:c.28A>G, NM_001199155.2:c.28A>G, NM_001199155.1:c.28A>G, NM_001346706.2:c.28A>G, NM_001346706.1:c.28A>G, NM_001199157.2:c.28A>G, NM_001199157.1:c.28A>G, NM_001199156.2:c.28A>G, NM_001199156.1:c.28A>G, NM_001199158.2:c.28A>G, NM_001199158.1:c.28A>G, NP_008998.1:p.Ser10Gly, NP_001186084.1:p.Ser10Gly, NP_001333635.1:p.Ser10Gly, NP_001186086.1:p.Ser10Gly, NP_001186085.1:p.Ser10Gly, NP_001186087.1:p.Ser10Gly

Select item 14863787893.

rs1486378789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49805435 (GRCh38)
17:47882797 (GRCh37)
Canonical SPDI:: NC_000017.11:49805434:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49805435A>G, NC_000017.10:g.47882797A>G, NG_051976.1:g.21817A>G, NM_007067.5:c.653A>G, NM_007067.4:c.653A>G, NM_001199155.2:c.653A>G, NM_001199155.1:c.653A>G, NM_001346706.2:c.413A>G, NM_001346706.1:c.413A>G, NM_001199157.2:c.413A>G, NM_001199157.1:c.413A>G, NM_001199156.2:c.236A>G, NM_001199156.1:c.236A>G, NM_001199158.2:c.236A>G, NM_001199158.1:c.236A>G, NP_008998.1:p.Asp218Gly, NP_001186084.1:p.Asp218Gly, NP_001333635.1:p.Asp138Gly, NP_001186086.1:p.Asp138Gly, NP_001186085.1:p.Asp79Gly, NP_001186087.1:p.Asp79Gly

Select item 14858785144.

rs1485878514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:49811511 (GRCh38)
17:47888873 (GRCh37)
Canonical SPDI:: NC_000017.11:49811510:A:G,NC_000017.11:49811510:A:T
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49811511A>G, NC_000017.11:g.49811511A>T, NC_000017.10:g.47888873A>G, NC_000017.10:g.47888873A>T, NG_051976.1:g.27893A>G, NG_051976.1:g.27893A>T, NM_007067.5:c.789A>G, NM_007067.5:c.789A>T, NM_007067.4:c.789A>G, NM_007067.4:c.789A>T, NM_001199155.2:c.699A>G, NM_001199155.2:c.699A>T, NM_001199155.1:c.699A>G, NM_001199155.1:c.699A>T, NM_001346706.2:c.549A>G, NM_001346706.2:c.549A>T, NM_001346706.1:c.549A>G, NM_001346706.1:c.549A>T, NM_001199157.2:c.459A>G, NM_001199157.2:c.459A>T, NM_001199157.1:c.459A>G, NM_001199157.1:c.459A>T, NM_001199156.2:c.372A>G, NM_001199156.2:c.372A>T, NM_001199156.1:c.372A>G, NM_001199156.1:c.372A>T, NM_001199158.2:c.282A>G, NM_001199158.2:c.282A>T, NM_001199158.1:c.282A>G, NM_001199158.1:c.282A>T, NP_008998.1:p.Lys263Asn, NP_001186084.1:p.Lys233Asn, NP_001333635.1:p.Lys183Asn, NP_001186086.1:p.Lys153Asn, NP_001186085.1:p.Lys124Asn, NP_001186087.1:p.Lys94Asn

Select item 14857087655.

rs1485708765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49827457 (GRCh38)
17:47904819 (GRCh37)
Canonical SPDI:: NC_000017.11:49827456:C:T
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49827457C>T, NC_000017.10:g.47904819C>T, NG_051976.1:g.43839C>T, NM_007067.5:c.1791C>T, NM_007067.4:c.1791C>T, NM_001199155.2:c.1701C>T, NM_001199155.1:c.1701C>T, NM_001346706.2:c.1551C>T, NM_001346706.1:c.1551C>T, NM_001199157.2:c.1461C>T, NM_001199157.1:c.1461C>T, NM_001199156.2:c.1374C>T, NM_001199156.1:c.1374C>T, NM_001199158.2:c.1284C>T, NM_001199158.1:c.1284C>T

Select item 14854598056.

rs1485459805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49791902 (GRCh38)
17:47869264 (GRCh37)
Canonical SPDI:: NC_000017.11:49791901:G:T
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.49791902G>T, NC_000017.10:g.47869264G>T, NG_051976.1:g.8284G>T, NM_007067.5:c.32G>T, NM_007067.4:c.32G>T, NM_001199155.2:c.32G>T, NM_001199155.1:c.32G>T, NM_001346706.2:c.32G>T, NM_001346706.1:c.32G>T, NM_001199157.2:c.32G>T, NM_001199157.1:c.32G>T, NM_001199156.2:c.32G>T, NM_001199156.1:c.32G>T, NM_001199158.2:c.32G>T, NM_001199158.1:c.32G>T, NP_008998.1:p.Ser11Ile, NP_001186084.1:p.Ser11Ile, NP_001333635.1:p.Ser11Ile, NP_001186086.1:p.Ser11Ile, NP_001186085.1:p.Ser11Ile, NP_001186087.1:p.Ser11Ile

Select item 14778671527.

rs1477867152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49815820 (GRCh38)
17:47893182 (GRCh37)
Canonical SPDI:: NC_000017.11:49815819:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49815820T>C, NC_000017.10:g.47893182T>C, NG_051976.1:g.32202T>C, NM_007067.5:c.870T>C, NM_007067.4:c.870T>C, NM_001199155.2:c.780T>C, NM_001199155.1:c.780T>C, NM_001346706.2:c.630T>C, NM_001346706.1:c.630T>C, NM_001199157.2:c.540T>C, NM_001199157.1:c.540T>C, NM_001199156.2:c.453T>C, NM_001199156.1:c.453T>C, NM_001199158.2:c.363T>C, NM_001199158.1:c.363T>C

Select item 14648096908.

rs1464809690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49791990 (GRCh38)
17:47869352 (GRCh37)
Canonical SPDI:: NC_000017.11:49791989:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.49791990T>C, NC_000017.10:g.47869352T>C, NG_051976.1:g.8372T>C, NM_007067.5:c.120T>C, NM_007067.4:c.120T>C, NM_001199155.2:c.120T>C, NM_001199155.1:c.120T>C, NM_001346706.2:c.120T>C, NM_001346706.1:c.120T>C, NM_001199157.2:c.120T>C, NM_001199157.1:c.120T>C, NM_001199156.2:c.120T>C, NM_001199156.1:c.120T>C, NM_001199158.2:c.120T>C, NM_001199158.1:c.120T>C

Select item 14635422259.

rs1463542225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49788846 (GRCh38)
17:47866208 (GRCh37)
Canonical SPDI:: NC_000017.11:49788845:G:A
Gene:: KAT7 (Varview), FAM117A (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49788846G>A, NC_000017.10:g.47866208G>A, NG_051976.1:g.5228G>A, NM_007067.5:c.12G>A, NM_007067.4:c.12G>A, NM_001199155.2:c.12G>A, NM_001199155.1:c.12G>A, NM_001346706.2:c.12G>A, NM_001346706.1:c.12G>A, NM_001199157.2:c.12G>A, NM_001199157.1:c.12G>A, NM_001199156.2:c.12G>A, NM_001199156.1:c.12G>A, NM_001199158.2:c.12G>A, NM_001199158.1:c.12G>A

Select item 146005124210.

rs1460051242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49823207 (GRCh38)
17:47900569 (GRCh37)
Canonical SPDI:: NC_000017.11:49823206:G:C
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.49823207G>C, NC_000017.10:g.47900569G>C, NG_051976.1:g.39589G>C, NM_007067.5:c.1392G>C, NM_007067.4:c.1392G>C, NM_001199155.2:c.1302G>C, NM_001199155.1:c.1302G>C, NM_001346706.2:c.1152G>C, NM_001346706.1:c.1152G>C, NM_001199157.2:c.1062G>C, NM_001199157.1:c.1062G>C, NM_001199156.2:c.975G>C, NM_001199156.1:c.975G>C, NM_001199158.2:c.885G>C, NM_001199158.1:c.885G>C, NP_008998.1:p.Lys464Asn, NP_001186084.1:p.Lys434Asn, NP_001333635.1:p.Lys384Asn, NP_001186086.1:p.Lys354Asn, NP_001186085.1:p.Lys325Asn, NP_001186087.1:p.Lys295Asn

Select item 145911130711.

rs1459111307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49817879 (GRCh38)
17:47895241 (GRCh37)
Canonical SPDI:: NC_000017.11:49817878:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.49817879T>C, NC_000017.10:g.47895241T>C, NG_051976.1:g.34261T>C, NM_007067.5:c.1023T>C, NM_007067.4:c.1023T>C, NM_001199155.2:c.933T>C, NM_001199155.1:c.933T>C, NM_001346706.2:c.783T>C, NM_001346706.1:c.783T>C, NM_001199157.2:c.693T>C, NM_001199157.1:c.693T>C, NM_001199156.2:c.606T>C, NM_001199156.1:c.606T>C, NM_001199158.2:c.516T>C, NM_001199158.1:c.516T>C

Select item 145838598412.

rs1458385984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49815831 (GRCh38)
17:47893193 (GRCh37)
Canonical SPDI:: NC_000017.11:49815830:G:A
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49815831G>A, NC_000017.10:g.47893193G>A, NG_051976.1:g.32213G>A, NM_007067.5:c.881G>A, NM_007067.4:c.881G>A, NM_001199155.2:c.791G>A, NM_001199155.1:c.791G>A, NM_001346706.2:c.641G>A, NM_001346706.1:c.641G>A, NM_001199157.2:c.551G>A, NM_001199157.1:c.551G>A, NM_001199156.2:c.464G>A, NM_001199156.1:c.464G>A, NM_001199158.2:c.374G>A, NM_001199158.1:c.374G>A, NP_008998.1:p.Arg294Gln, NP_001186084.1:p.Arg264Gln, NP_001333635.1:p.Arg214Gln, NP_001186086.1:p.Arg184Gln, NP_001186085.1:p.Arg155Gln, NP_001186087.1:p.Arg125Gln

Select item 145681190613.

rs1456811906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49809127 (GRCh38)
17:47886489 (GRCh37)
Canonical SPDI:: NC_000017.11:49809126:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49809127A>G, NC_000017.10:g.47886489A>G, NG_051976.1:g.25509A>G, NM_007067.5:c.672A>G, NM_007067.4:c.672A>G, NM_001346706.2:c.432A>G, NM_001346706.1:c.432A>G, NM_001199156.2:c.255A>G, NM_001199156.1:c.255A>G

Select item 145610272814.

rs1456102728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49826081 (GRCh38)
17:47903443 (GRCh37)
Canonical SPDI:: NC_000017.11:49826080:G:C
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49826081G>C, NC_000017.10:g.47903443G>C, NG_051976.1:g.42463G>C, NM_007067.5:c.1562G>C, NM_007067.4:c.1562G>C, NM_001199155.2:c.1472G>C, NM_001199155.1:c.1472G>C, NM_001346706.2:c.1322G>C, NM_001346706.1:c.1322G>C, NM_001199157.2:c.1232G>C, NM_001199157.1:c.1232G>C, NM_001199156.2:c.1145G>C, NM_001199156.1:c.1145G>C, NM_001199158.2:c.1055G>C, NM_001199158.1:c.1055G>C, NP_008998.1:p.Ser521Thr, NP_001186084.1:p.Ser491Thr, NP_001333635.1:p.Ser441Thr, NP_001186086.1:p.Ser411Thr, NP_001186085.1:p.Ser382Thr, NP_001186087.1:p.Ser352Thr

Select item 145535038515.

rs1455350385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49792001 (GRCh38)
17:47869363 (GRCh37)
Canonical SPDI:: NC_000017.11:49792000:G:A
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49792001G>A, NC_000017.10:g.47869363G>A, NG_051976.1:g.8383G>A, NM_007067.5:c.131G>A, NM_007067.4:c.131G>A, NM_001199155.2:c.131G>A, NM_001199155.1:c.131G>A, NM_001346706.2:c.131G>A, NM_001346706.1:c.131G>A, NM_001199157.2:c.131G>A, NM_001199157.1:c.131G>A, NM_001199156.2:c.131G>A, NM_001199156.1:c.131G>A, NM_001199158.2:c.131G>A, NM_001199158.1:c.131G>A, NP_008998.1:p.Arg44His, NP_001186084.1:p.Arg44His, NP_001333635.1:p.Arg44His, NP_001186086.1:p.Arg44His, NP_001186085.1:p.Arg44His, NP_001186087.1:p.Arg44His

Select item 145483753316.

rs1454837533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49826023 (GRCh38)
17:47903385 (GRCh37)
Canonical SPDI:: NC_000017.11:49826022:G:C
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49826023G>C, NC_000017.10:g.47903385G>C, NG_051976.1:g.42405G>C, NM_007067.5:c.1504G>C, NM_007067.4:c.1504G>C, NM_001199155.2:c.1414G>C, NM_001199155.1:c.1414G>C, NM_001346706.2:c.1264G>C, NM_001346706.1:c.1264G>C, NM_001199157.2:c.1174G>C, NM_001199157.1:c.1174G>C, NM_001199156.2:c.1087G>C, NM_001199156.1:c.1087G>C, NM_001199158.2:c.997G>C, NM_001199158.1:c.997G>C, NP_008998.1:p.Glu502Gln, NP_001186084.1:p.Glu472Gln, NP_001333635.1:p.Glu422Gln, NP_001186086.1:p.Glu392Gln, NP_001186085.1:p.Glu363Gln, NP_001186087.1:p.Glu333Gln

Select item 145302864417.

rs1453028644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49809180 (GRCh38)
17:47886542 (GRCh37)
Canonical SPDI:: NC_000017.11:49809179:A:G
Gene:: KAT7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0003/1 (KOREAN)
G=0.0005/1 (Korea1K)
HGVS:: NC_000017.11:g.49809180A>G, NC_000017.10:g.47886542A>G, NG_051976.1:g.25562A>G, NM_007067.5:c.725A>G, NM_007067.4:c.725A>G, NM_001346706.2:c.485A>G, NM_001346706.1:c.485A>G, NM_001199156.2:c.308A>G, NM_001199156.1:c.308A>G, NP_008998.1:p.Asp242Gly, NP_001333635.1:p.Asp162Gly, NP_001186085.1:p.Asp103Gly

Select item 145242886318.

rs1452428863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49811502 (GRCh38)
17:47888864 (GRCh37)
Canonical SPDI:: NC_000017.11:49811501:T:C
Gene:: KAT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49811502T>C, NC_000017.10:g.47888864T>C, NG_051976.1:g.27884T>C, NM_007067.5:c.780T>C, NM_007067.4:c.780T>C, NM_001199155.2:c.690T>C, NM_001199155.1:c.690T>C, NM_001346706.2:c.540T>C, NM_001346706.1:c.540T>C, NM_001199157.2:c.450T>C, NM_001199157.1:c.450T>C, NM_001199156.2:c.363T>C, NM_001199156.1:c.363T>C, NM_001199158.2:c.273T>C, NM_001199158.1:c.273T>C

Select item 144088909719.

rs1440889097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49821676 (GRCh38)
17:47899038 (GRCh37)
Canonical SPDI:: NC_000017.11:49821675:G:A
Gene:: KAT7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49821676G>A, NC_000017.10:g.47899038G>A, NG_051976.1:g.38058G>A, NM_007067.5:c.1272G>A, NM_007067.4:c.1272G>A, NM_001199155.2:c.1182G>A, NM_001199155.1:c.1182G>A, NM_001346706.2:c.1032G>A, NM_001346706.1:c.1032G>A, NM_001199157.2:c.942G>A, NM_001199157.1:c.942G>A, NM_001199156.2:c.855G>A, NM_001199156.1:c.855G>A, NM_001199158.2:c.765G>A, NM_001199158.1:c.765G>A

Select item 144059729320.

rs1440597293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:49811556 (GRCh38)
17:47888918 (GRCh37)
Canonical SPDI:: NC_000017.11:49811555:A:T
Gene:: KAT7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49811556A>T, NC_000017.10:g.47888918A>T, NG_051976.1:g.27938A>T, NM_007067.5:c.834A>T, NM_007067.4:c.834A>T, NM_001199155.2:c.744A>T, NM_001199155.1:c.744A>T, NM_001346706.2:c.594A>T, NM_001346706.1:c.594A>T, NM_001199157.2:c.504A>T, NM_001199157.1:c.504A>T, NM_001199156.2:c.417A>T, NM_001199156.1:c.417A>T, NM_001199158.2:c.327A>T, NM_001199158.1:c.327A>T, NP_008998.1:p.Glu278Asp, NP_001186084.1:p.Glu248Asp, NP_001333635.1:p.Glu198Asp, NP_001186086.1:p.Glu168Asp, NP_001186085.1:p.Glu139Asp, NP_001186087.1:p.Glu109Asp

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