SNP Links for Protein (Select 1034645352) - SNP

Links from Protein

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Select item 14813543511.

rs1481354351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157733031 (GRCh38)
5:157160039 (GRCh37)
Canonical SPDI:: NC_000005.10:157733030:A:G
Gene:: THG1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157733031A>G, NC_000005.9:g.157160039A>G, NM_017872.5:c.355A>G, NM_017872.4:c.355A>G, NM_017872.3:c.355A>G, XM_017009603.3:c.169A>G, XM_017009603.2:c.169A>G, XM_017009603.1:c.169A>G, NM_001317826.2:c.169A>G, NM_001317826.1:c.169A>G, NM_001317825.2:c.-17A>G, NM_001317825.1:c.-17A>G, NM_001317824.2:c.54A>G, NM_001317824.1:c.54A>G, NP_060342.2:p.Lys119Glu, XP_016865092.1:p.Lys57Glu, NP_001304755.1:p.Lys57Glu

Select item 14794268122.

rs1479426812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157739369 (GRCh38)
5:157166377 (GRCh37)
Canonical SPDI:: NC_000005.10:157739368:G:A
Gene:: THG1L (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157739369G>A, NC_000005.9:g.157166377G>A, NM_017872.5:c.784G>A, NM_017872.4:c.784G>A, NM_017872.3:c.784G>A, XM_017009603.3:c.598G>A, XM_017009603.2:c.598G>A, XM_017009603.1:c.598G>A, NM_001317826.2:c.598G>A, NM_001317826.1:c.598G>A, NM_001317825.2:c.409G>A, NM_001317825.1:c.409G>A, NM_001317824.2:c.388G>A, NM_001317824.1:c.388G>A, NP_060342.2:p.Gly262Arg, XP_016865092.1:p.Gly200Arg, NP_001304755.1:p.Gly200Arg, NP_001304754.1:p.Gly137Arg, NP_001304753.1:p.Gly130Arg

Select item 14756390583.

rs1475639058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157732870 (GRCh38)
5:157159878 (GRCh37)
Canonical SPDI:: NC_000005.10:157732869:T:C
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.157732870T>C, NC_000005.9:g.157159878T>C, NM_017872.5:c.194T>C, NM_017872.4:c.194T>C, NM_017872.3:c.194T>C, XM_017009603.3:c.8T>C, XM_017009603.2:c.8T>C, XM_017009603.1:c.8T>C, NM_001317826.2:c.8T>C, NM_001317826.1:c.8T>C, NM_001317825.2:c.-178T>C, NM_001317825.1:c.-178T>C, NM_001317824.2:c.-108T>C, NM_001317824.1:c.-108T>C, NP_060342.2:p.Phe65Ser, XP_016865092.1:p.Phe3Ser, NP_001304755.1:p.Phe3Ser

Select item 14685395444.

rs1468539544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157734740 (GRCh38)
5:157161748 (GRCh37)
Canonical SPDI:: NC_000005.10:157734739:C:T
Gene:: THG1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157734740C>T, NC_000005.9:g.157161748C>T, NM_017872.5:c.533C>T, NM_017872.4:c.533C>T, NM_017872.3:c.533C>T, XM_017009603.3:c.347C>T, XM_017009603.2:c.347C>T, XM_017009603.1:c.347C>T, NM_001317826.2:c.347C>T, NM_001317826.1:c.347C>T, NM_001317825.2:c.158C>T, NM_001317825.1:c.158C>T, NM_001317824.2:c.137C>T, NM_001317824.1:c.137C>T, NP_060342.2:p.Ala178Val, XP_016865092.1:p.Ala116Val, NP_001304755.1:p.Ala116Val, NP_001304754.1:p.Ala53Val, NP_001304753.1:p.Ala46Val

Select item 14684641525.

rs1468464152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:157734699 (GRCh38)
5:157161707 (GRCh37)
Canonical SPDI:: NC_000005.10:157734698:C:A
Gene:: THG1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.157734699C>A, NC_000005.9:g.157161707C>A, NM_017872.5:c.492C>A, NM_017872.4:c.492C>A, NM_017872.3:c.492C>A, XM_017009603.3:c.306C>A, XM_017009603.2:c.306C>A, XM_017009603.1:c.306C>A, NM_001317826.2:c.306C>A, NM_001317826.1:c.306C>A, NM_001317825.2:c.117C>A, NM_001317825.1:c.117C>A, NM_001317824.2:c.96C>A, NM_001317824.1:c.96C>A

Select item 14558118046.

rs1455811804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157732909 (GRCh38)
5:157159917 (GRCh37)
Canonical SPDI:: NC_000005.10:157732908:G:A
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157732909G>A, NC_000005.9:g.157159917G>A, NM_017872.5:c.233G>A, NM_017872.4:c.233G>A, NM_017872.3:c.233G>A, XM_017009603.3:c.47G>A, XM_017009603.2:c.47G>A, XM_017009603.1:c.47G>A, NM_001317826.2:c.47G>A, NM_001317826.1:c.47G>A, NM_001317825.2:c.-139G>A, NM_001317825.1:c.-139G>A, NM_001317824.2:c.-69G>A, NM_001317824.1:c.-69G>A, NP_060342.2:p.Arg78His, XP_016865092.1:p.Arg16His, NP_001304755.1:p.Arg16His

Select item 14553628337.

rs1455362833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157739324 (GRCh38)
5:157166332 (GRCh37)
Canonical SPDI:: NC_000005.10:157739323:G:A
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157739324G>A, NC_000005.9:g.157166332G>A, NM_017872.5:c.739G>A, NM_017872.4:c.739G>A, NM_017872.3:c.739G>A, XM_017009603.3:c.553G>A, XM_017009603.2:c.553G>A, XM_017009603.1:c.553G>A, NM_001317826.2:c.553G>A, NM_001317826.1:c.553G>A, NM_001317825.2:c.364G>A, NM_001317825.1:c.364G>A, NM_001317824.2:c.343G>A, NM_001317824.1:c.343G>A, NP_060342.2:p.Asp247Asn, XP_016865092.1:p.Asp185Asn, NP_001304755.1:p.Asp185Asn, NP_001304754.1:p.Asp122Asn, NP_001304753.1:p.Asp115Asn

Select item 14538183638.

rs1453818363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157739325 (GRCh38)
5:157166333 (GRCh37)
Canonical SPDI:: NC_000005.10:157739324:A:G
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.157739325A>G, NC_000005.9:g.157166333A>G, NM_017872.5:c.740A>G, NM_017872.4:c.740A>G, NM_017872.3:c.740A>G, XM_017009603.3:c.554A>G, XM_017009603.2:c.554A>G, XM_017009603.1:c.554A>G, NM_001317826.2:c.554A>G, NM_001317826.1:c.554A>G, NM_001317825.2:c.365A>G, NM_001317825.1:c.365A>G, NM_001317824.2:c.344A>G, NM_001317824.1:c.344A>G, NP_060342.2:p.Asp247Gly, XP_016865092.1:p.Asp185Gly, NP_001304755.1:p.Asp185Gly, NP_001304754.1:p.Asp122Gly, NP_001304753.1:p.Asp115Gly

Select item 14520836439.

rs1452083643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157732901 (GRCh38)
5:157159909 (GRCh37)
Canonical SPDI:: NC_000005.10:157732900:T:C
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157732901T>C, NC_000005.9:g.157159909T>C, NM_017872.5:c.225T>C, NM_017872.4:c.225T>C, NM_017872.3:c.225T>C, XM_017009603.3:c.39T>C, XM_017009603.2:c.39T>C, XM_017009603.1:c.39T>C, NM_001317826.2:c.39T>C, NM_001317826.1:c.39T>C, NM_001317825.2:c.-147T>C, NM_001317825.1:c.-147T>C, NM_001317824.2:c.-77T>C, NM_001317824.1:c.-77T>C

Select item 144887676610.

rs1448876766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157739450 (GRCh38)
5:157166458 (GRCh37)
Canonical SPDI:: NC_000005.10:157739449:G:A
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.157739450G>A, NC_000005.9:g.157166458G>A, NM_017872.5:c.865G>A, NM_017872.4:c.865G>A, NM_017872.3:c.865G>A, XM_017009603.3:c.679G>A, XM_017009603.2:c.679G>A, XM_017009603.1:c.679G>A, NM_001317826.2:c.679G>A, NM_001317826.1:c.679G>A, NM_001317825.2:c.490G>A, NM_001317825.1:c.490G>A, NM_001317824.2:c.469G>A, NM_001317824.1:c.469G>A, NP_060342.2:p.Glu289Lys, XP_016865092.1:p.Glu227Lys, NP_001304755.1:p.Glu227Lys, NP_001304754.1:p.Glu164Lys, NP_001304753.1:p.Glu157Lys

Select item 144735778711.

rs1447357787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:157735911 (GRCh38)
5:157162919 (GRCh37)
Canonical SPDI:: NC_000005.10:157735910:G:T
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157735911G>T, NC_000005.9:g.157162919G>T, NM_017872.5:c.604G>T, NM_017872.4:c.604G>T, NM_017872.3:c.604G>T, XM_017009603.3:c.418G>T, XM_017009603.2:c.418G>T, XM_017009603.1:c.418G>T, NM_001317826.2:c.418G>T, NM_001317826.1:c.418G>T, NM_001317825.2:c.229G>T, NM_001317825.1:c.229G>T, NM_001317824.2:c.208G>T, NM_001317824.1:c.208G>T, NP_060342.2:p.Val202Leu, XP_016865092.1:p.Val140Leu, NP_001304755.1:p.Val140Leu, NP_001304754.1:p.Val77Leu, NP_001304753.1:p.Val70Leu

Select item 144620257912.

rs1446202579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:157732881 (GRCh38)
5:157159889 (GRCh37)
Canonical SPDI:: NC_000005.10:157732880:C:G
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000052/13 (GnomAD_exomes)
G=0.000057/15 (TOPMED)
G=0.0001/14 (GnomAD)
HGVS:: NC_000005.10:g.157732881C>G, NC_000005.9:g.157159889C>G, NM_017872.5:c.205C>G, NM_017872.4:c.205C>G, NM_017872.3:c.205C>G, XM_017009603.3:c.19C>G, XM_017009603.2:c.19C>G, XM_017009603.1:c.19C>G, NM_001317826.2:c.19C>G, NM_001317826.1:c.19C>G, NM_001317825.2:c.-167C>G, NM_001317825.1:c.-167C>G, NM_001317824.2:c.-97C>G, NM_001317824.1:c.-97C>G, NP_060342.2:p.His69Asp, XP_016865092.1:p.His7Asp, NP_001304755.1:p.His7Asp

Select item 144283414213.

rs1442834142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157735906 (GRCh38)
5:157162914 (GRCh37)
Canonical SPDI:: NC_000005.10:157735905:C:T
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157735906C>T, NC_000005.9:g.157162914C>T, NM_017872.5:c.599C>T, NM_017872.4:c.599C>T, NM_017872.3:c.599C>T, XM_017009603.3:c.413C>T, XM_017009603.2:c.413C>T, XM_017009603.1:c.413C>T, NM_001317826.2:c.413C>T, NM_001317826.1:c.413C>T, NM_001317825.2:c.224C>T, NM_001317825.1:c.224C>T, NM_001317824.2:c.203C>T, NM_001317824.1:c.203C>T, NP_060342.2:p.Thr200Ile, XP_016865092.1:p.Thr138Ile, NP_001304755.1:p.Thr138Ile, NP_001304754.1:p.Thr75Ile, NP_001304753.1:p.Thr68Ile

Select item 144260163714.

rs1442601637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157734646 (GRCh38)
5:157161654 (GRCh37)
Canonical SPDI:: NC_000005.10:157734645:G:A
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157734646G>A, NC_000005.9:g.157161654G>A, NM_017872.5:c.439G>A, NM_017872.4:c.439G>A, NM_017872.3:c.439G>A, XM_017009603.3:c.253G>A, XM_017009603.2:c.253G>A, XM_017009603.1:c.253G>A, NM_001317826.2:c.253G>A, NM_001317826.1:c.253G>A, NM_001317825.2:c.64G>A, NM_001317825.1:c.64G>A, NP_060342.2:p.Asp147Asn, XP_016865092.1:p.Asp85Asn, NP_001304755.1:p.Asp85Asn, NP_001304754.1:p.Asp22Asn

Select item 144044374715.

rs1440443747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:157732874 (GRCh38)
5:157159882 (GRCh37)
Canonical SPDI:: NC_000005.10:157732873:T:C,NC_000005.10:157732873:T:G
Gene:: THG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157732874T>C, NC_000005.10:g.157732874T>G, NC_000005.9:g.157159882T>C, NC_000005.9:g.157159882T>G, NM_017872.5:c.198T>C, NM_017872.5:c.198T>G, NM_017872.4:c.198T>C, NM_017872.4:c.198T>G, NM_017872.3:c.198T>C, NM_017872.3:c.198T>G, XM_017009603.3:c.12T>C, XM_017009603.3:c.12T>G, XM_017009603.2:c.12T>C, XM_017009603.2:c.12T>G, XM_017009603.1:c.12T>C, XM_017009603.1:c.12T>G, NM_001317826.2:c.12T>C, NM_001317826.2:c.12T>G, NM_001317826.1:c.12T>C, NM_001317826.1:c.12T>G, NM_001317825.2:c.-174T>C, NM_001317825.2:c.-174T>G, NM_001317825.1:c.-174T>C, NM_001317825.1:c.-174T>G, NM_001317824.2:c.-104T>C, NM_001317824.2:c.-104T>G, NM_001317824.1:c.-104T>C, NM_001317824.1:c.-104T>G

Select item 144039371116.

rs1440393711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:157732927 (GRCh38)
5:157159935 (GRCh37)
Canonical SPDI:: NC_000005.10:157732926:C:A,NC_000005.10:157732926:C:T
Gene:: THG1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157732927C>A, NC_000005.10:g.157732927C>T, NC_000005.9:g.157159935C>A, NC_000005.9:g.157159935C>T, NM_017872.5:c.251C>A, NM_017872.5:c.251C>T, NM_017872.4:c.251C>A, NM_017872.4:c.251C>T, NM_017872.3:c.251C>A, NM_017872.3:c.251C>T, XM_017009603.3:c.65C>A, XM_017009603.3:c.65C>T, XM_017009603.2:c.65C>A, XM_017009603.2:c.65C>T, XM_017009603.1:c.65C>A, XM_017009603.1:c.65C>T, NM_001317826.2:c.65C>A, NM_001317826.2:c.65C>T, NM_001317826.1:c.65C>A, NM_001317826.1:c.65C>T, NM_001317825.2:c.-121C>A, NM_001317825.2:c.-121C>T, NM_001317825.1:c.-121C>A, NM_001317825.1:c.-121C>T, NM_001317824.2:c.-51C>A, NM_001317824.2:c.-51C>T, NM_001317824.1:c.-51C>A, NM_001317824.1:c.-51C>T, NP_060342.2:p.Thr84Asn, NP_060342.2:p.Thr84Ile, XP_016865092.1:p.Thr22Asn, XP_016865092.1:p.Thr22Ile, NP_001304755.1:p.Thr22Asn, NP_001304755.1:p.Thr22Ile

Select item 143322603017.

rs1433226030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157735886 (GRCh38)
5:157162894 (GRCh37)
Canonical SPDI:: NC_000005.10:157735885:T:C
Gene:: THG1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.157735886T>C, NC_000005.9:g.157162894T>C, NM_017872.5:c.579T>C, NM_017872.4:c.579T>C, NM_017872.3:c.579T>C, XM_017009603.3:c.393T>C, XM_017009603.2:c.393T>C, XM_017009603.1:c.393T>C, NM_001317826.2:c.393T>C, NM_001317826.1:c.393T>C, NM_001317825.2:c.204T>C, NM_001317825.1:c.204T>C, NM_001317824.2:c.183T>C, NM_001317824.1:c.183T>C

Select item 142973647118.

rs1429736471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157739352 (GRCh38)
5:157166360 (GRCh37)
Canonical SPDI:: NC_000005.10:157739351:T:C
Gene:: THG1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157739352T>C, NC_000005.9:g.157166360T>C, NM_017872.5:c.767T>C, NM_017872.4:c.767T>C, NM_017872.3:c.767T>C, XM_017009603.3:c.581T>C, XM_017009603.2:c.581T>C, XM_017009603.1:c.581T>C, NM_001317826.2:c.581T>C, NM_001317826.1:c.581T>C, NM_001317825.2:c.392T>C, NM_001317825.1:c.392T>C, NM_001317824.2:c.371T>C, NM_001317824.1:c.371T>C, NP_060342.2:p.Leu256Pro, XP_016865092.1:p.Leu194Pro, NP_001304755.1:p.Leu194Pro, NP_001304754.1:p.Leu131Pro, NP_001304753.1:p.Leu124Pro

Select item 142850306319.

rs1428503063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:157735856 (GRCh38)
5:157162864 (GRCh37)
Canonical SPDI:: NC_000005.10:157735855:T:A
Gene:: THG1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157735856T>A, NC_000005.9:g.157162864T>A, NM_017872.5:c.549T>A, NM_017872.4:c.549T>A, NM_017872.3:c.549T>A, XM_017009603.3:c.363T>A, XM_017009603.2:c.363T>A, XM_017009603.1:c.363T>A, NM_001317826.2:c.363T>A, NM_001317826.1:c.363T>A, NM_001317825.2:c.174T>A, NM_001317825.1:c.174T>A, NM_001317824.2:c.153T>A, NM_001317824.1:c.153T>A, NP_060342.2:p.Asn183Lys, XP_016865092.1:p.Asn121Lys, NP_001304755.1:p.Asn121Lys, NP_001304754.1:p.Asn58Lys, NP_001304753.1:p.Asn51Lys

Select item 141343113820.

rs1413431138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157735866 (GRCh38)
5:157162874 (GRCh37)
Canonical SPDI:: NC_000005.10:157735865:A:G
Gene:: THG1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157735866A>G, NC_000005.9:g.157162874A>G, NM_017872.5:c.559A>G, NM_017872.4:c.559A>G, NM_017872.3:c.559A>G, XM_017009603.3:c.373A>G, XM_017009603.2:c.373A>G, XM_017009603.1:c.373A>G, NM_001317826.2:c.373A>G, NM_001317826.1:c.373A>G, NM_001317825.2:c.184A>G, NM_001317825.1:c.184A>G, NM_001317824.2:c.163A>G, NM_001317824.1:c.163A>G, NP_060342.2:p.Asn187Asp, XP_016865092.1:p.Asn125Asp, NP_001304755.1:p.Asn125Asp, NP_001304754.1:p.Asn62Asp, NP_001304753.1:p.Asn55Asp

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