SNP Links for Protein (Select 1063759661) - SNP

Select item 14863771381.

rs1486377138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:129855839 (GRCh38)
11:129725734 (GRCh37)
Canonical SPDI:: NC_000011.10:129855838:C:T
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.129855839C>T, NC_000011.9:g.129725734C>T, NM_138788.5:c.517C>T, NM_138788.4:c.517C>T, NM_138788.3:c.517C>T, XM_017017188.2:c.517C>T, XM_017017188.1:c.517C>T, NM_001331210.2:c.517C>T, NM_001331210.1:c.517C>T, NM_001331212.2:c.517C>T, NM_001331212.1:c.517C>T, NM_001331211.2:c.517C>T, NM_001331211.1:c.517C>T, XM_047426356.1:c.517C>T, XM_047426354.1:c.517C>T, XM_047426358.1:c.517C>T, XM_047426355.1:c.517C>T, XM_047426357.1:c.517C>T

Select item 14806566582.

rs1480656658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:129854766 (GRCh38)
11:129724661 (GRCh37)
Canonical SPDI:: NC_000011.10:129854765:T:C
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.129854766T>C, NC_000011.9:g.129724661T>C, NM_138788.5:c.335T>C, NM_138788.4:c.335T>C, NM_138788.3:c.335T>C, XM_017017188.2:c.335T>C, XM_017017188.1:c.335T>C, NM_001331210.2:c.335T>C, NM_001331210.1:c.335T>C, NM_001331212.2:c.335T>C, NM_001331212.1:c.335T>C, NM_001331211.2:c.335T>C, NM_001331211.1:c.335T>C, XM_047426356.1:c.335T>C, XM_047426354.1:c.335T>C, XM_047426358.1:c.335T>C, XM_047426355.1:c.335T>C, XM_047426357.1:c.335T>C, NP_620143.1:p.Val112Ala, XP_016872677.1:p.Val112Ala, NP_001318139.1:p.Val112Ala, NP_001318141.1:p.Val112Ala, NP_001318140.1:p.Val112Ala, XP_047282312.1:p.Val112Ala, XP_047282310.1:p.Val112Ala, XP_047282314.1:p.Val112Ala, XP_047282311.1:p.Val112Ala, XP_047282313.1:p.Val112Ala

Select item 14788365613.

rs1478836561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:129858608 (GRCh38)
11:129728503 (GRCh37)
Canonical SPDI:: NC_000011.10:129858607:G:T
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000011.10:g.129858608G>T, NC_000011.9:g.129728503G>T, NM_138788.5:c.751G>T, NM_138788.4:c.751G>T, NM_138788.3:c.751G>T, XM_017017188.2:c.751G>T, XM_017017188.1:c.751G>T, NM_001331210.2:c.751G>T, NM_001331210.1:c.751G>T, NM_001331212.2:c.751G>T, NM_001331212.1:c.751G>T, NM_001331211.2:c.751G>T, NM_001331211.1:c.751G>T, XM_047426356.1:c.751G>T, XM_047426354.1:c.751G>T, XM_047426358.1:c.751G>T, XM_047426355.1:c.751G>T, XM_047426357.1:c.751G>T, NP_620143.1:p.Glu251Ter, XP_016872677.1:p.Glu251Ter, NP_001318139.1:p.Glu251Ter, NP_001318141.1:p.Glu251Ter, NP_001318140.1:p.Glu251Ter, XP_047282312.1:p.Glu251Ter, XP_047282310.1:p.Glu251Ter, XP_047282314.1:p.Glu251Ter, XP_047282311.1:p.Glu251Ter, XP_047282313.1:p.Glu251Ter

Select item 14782810694.

rs1478281069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:129854800 (GRCh38)
11:129724695 (GRCh37)
Canonical SPDI:: NC_000011.10:129854799:G:A
Gene:: TMEM45B (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_000011.10:g.129854800G>A, NC_000011.9:g.129724695G>A, NM_138788.5:c.369G>A, NM_138788.4:c.369G>A, NM_138788.3:c.369G>A, XM_017017188.2:c.369G>A, XM_017017188.1:c.369G>A, NM_001331210.2:c.369G>A, NM_001331210.1:c.369G>A, NM_001331212.2:c.369G>A, NM_001331212.1:c.369G>A, NM_001331211.2:c.369G>A, NM_001331211.1:c.369G>A, XM_047426356.1:c.369G>A, XM_047426354.1:c.369G>A, XM_047426358.1:c.369G>A, XM_047426355.1:c.369G>A, XM_047426357.1:c.369G>A

Select item 14770969725.

rs1477096972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:129852590 (GRCh38)
11:129722485 (GRCh37)
Canonical SPDI:: NC_000011.10:129852589:C:G,NC_000011.10:129852589:C:T
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.129852590C>G, NC_000011.10:g.129852590C>T, NC_000011.9:g.129722485C>G, NC_000011.9:g.129722485C>T, NM_138788.5:c.108C>G, NM_138788.5:c.108C>T, NM_138788.4:c.108C>G, NM_138788.4:c.108C>T, NM_138788.3:c.108C>G, NM_138788.3:c.108C>T, XM_017017188.2:c.108C>G, XM_017017188.2:c.108C>T, XM_017017188.1:c.108C>G, XM_017017188.1:c.108C>T, NM_001331210.2:c.108C>G, NM_001331210.2:c.108C>T, NM_001331210.1:c.108C>G, NM_001331210.1:c.108C>T, NM_001331212.2:c.108C>G, NM_001331212.2:c.108C>T, NM_001331212.1:c.108C>G, NM_001331212.1:c.108C>T, NM_001331211.2:c.108C>G, NM_001331211.2:c.108C>T, NM_001331211.1:c.108C>G, NM_001331211.1:c.108C>T, XM_047426356.1:c.108C>G, XM_047426356.1:c.108C>T, XM_047426354.1:c.108C>G, XM_047426354.1:c.108C>T, XM_047426358.1:c.108C>G, XM_047426358.1:c.108C>T, XM_047426355.1:c.108C>G, XM_047426355.1:c.108C>T, XM_047426357.1:c.108C>G, XM_047426357.1:c.108C>T, NP_620143.1:p.Asn36Lys, XP_016872677.1:p.Asn36Lys, NP_001318139.1:p.Asn36Lys, NP_001318141.1:p.Asn36Lys, NP_001318140.1:p.Asn36Lys, XP_047282312.1:p.Asn36Lys, XP_047282310.1:p.Asn36Lys, XP_047282314.1:p.Asn36Lys, XP_047282311.1:p.Asn36Lys, XP_047282313.1:p.Asn36Lys

Select item 14672396176.

rs1467239617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:129854793 (GRCh38)
11:129724688 (GRCh37)
Canonical SPDI:: NC_000011.10:129854792:T:G
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.129854793T>G, NC_000011.9:g.129724688T>G, NM_138788.5:c.362T>G, NM_138788.4:c.362T>G, NM_138788.3:c.362T>G, XM_017017188.2:c.362T>G, XM_017017188.1:c.362T>G, NM_001331210.2:c.362T>G, NM_001331210.1:c.362T>G, NM_001331212.2:c.362T>G, NM_001331212.1:c.362T>G, NM_001331211.2:c.362T>G, NM_001331211.1:c.362T>G, XM_047426356.1:c.362T>G, XM_047426354.1:c.362T>G, XM_047426358.1:c.362T>G, XM_047426355.1:c.362T>G, XM_047426357.1:c.362T>G, NP_620143.1:p.Met121Arg, XP_016872677.1:p.Met121Arg, NP_001318139.1:p.Met121Arg, NP_001318141.1:p.Met121Arg, NP_001318140.1:p.Met121Arg, XP_047282312.1:p.Met121Arg, XP_047282310.1:p.Met121Arg, XP_047282314.1:p.Met121Arg, XP_047282311.1:p.Met121Arg, XP_047282313.1:p.Met121Arg

Select item 14664064967.

rs1466406496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:129855857 (GRCh38)
11:129725752 (GRCh37)
Canonical SPDI:: NC_000011.10:129855856:A:G
Gene:: TMEM45B (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)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.129855857A>G, NC_000011.9:g.129725752A>G, NM_138788.5:c.535A>G, NM_138788.4:c.535A>G, NM_138788.3:c.535A>G, XM_017017188.2:c.535A>G, XM_017017188.1:c.535A>G, NM_001331210.2:c.535A>G, NM_001331210.1:c.535A>G, NM_001331212.2:c.535A>G, NM_001331212.1:c.535A>G, NM_001331211.2:c.535A>G, NM_001331211.1:c.535A>G, XM_047426356.1:c.535A>G, XM_047426354.1:c.535A>G, XM_047426358.1:c.535A>G, XM_047426355.1:c.535A>G, XM_047426357.1:c.535A>G, NP_620143.1:p.Ser179Gly, XP_016872677.1:p.Ser179Gly, NP_001318139.1:p.Ser179Gly, NP_001318141.1:p.Ser179Gly, NP_001318140.1:p.Ser179Gly, XP_047282312.1:p.Ser179Gly, XP_047282310.1:p.Ser179Gly, XP_047282314.1:p.Ser179Gly, XP_047282311.1:p.Ser179Gly, XP_047282313.1:p.Ser179Gly

Select item 14547022808.

rs1454702280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:129854643 (GRCh38)
11:129724538 (GRCh37)
Canonical SPDI:: NC_000011.10:129854642:C:G
Gene:: TMEM45B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.129854643C>G, NC_000011.9:g.129724538C>G, NM_138788.5:c.212C>G, NM_138788.4:c.212C>G, NM_138788.3:c.212C>G, XM_017017188.2:c.212C>G, XM_017017188.1:c.212C>G, NM_001331210.2:c.212C>G, NM_001331210.1:c.212C>G, NM_001331212.2:c.212C>G, NM_001331212.1:c.212C>G, NM_001331211.2:c.212C>G, NM_001331211.1:c.212C>G, XM_047426356.1:c.212C>G, XM_047426354.1:c.212C>G, XM_047426358.1:c.212C>G, XM_047426355.1:c.212C>G, XM_047426357.1:c.212C>G, NP_620143.1:p.Pro71Arg, XP_016872677.1:p.Pro71Arg, NP_001318139.1:p.Pro71Arg, NP_001318141.1:p.Pro71Arg, NP_001318140.1:p.Pro71Arg, XP_047282312.1:p.Pro71Arg, XP_047282310.1:p.Pro71Arg, XP_047282314.1:p.Pro71Arg, XP_047282311.1:p.Pro71Arg, XP_047282313.1:p.Pro71Arg

Select item 14546167609.

rs1454616760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:129852636 (GRCh38)
11:129722531 (GRCh37)
Canonical SPDI:: NC_000011.10:129852635:A:G
Gene:: TMEM45B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.129852636A>G, NC_000011.9:g.129722531A>G, NM_138788.5:c.154A>G, NM_138788.4:c.154A>G, NM_138788.3:c.154A>G, XM_017017188.2:c.154A>G, XM_017017188.1:c.154A>G, NM_001331210.2:c.154A>G, NM_001331210.1:c.154A>G, NM_001331212.2:c.154A>G, NM_001331212.1:c.154A>G, NM_001331211.2:c.154A>G, NM_001331211.1:c.154A>G, XM_047426356.1:c.154A>G, XM_047426354.1:c.154A>G, XM_047426358.1:c.154A>G, XM_047426355.1:c.154A>G, XM_047426357.1:c.154A>G, NP_620143.1:p.Ile52Val, XP_016872677.1:p.Ile52Val, NP_001318139.1:p.Ile52Val, NP_001318141.1:p.Ile52Val, NP_001318140.1:p.Ile52Val, XP_047282312.1:p.Ile52Val, XP_047282310.1:p.Ile52Val, XP_047282314.1:p.Ile52Val, XP_047282311.1:p.Ile52Val, XP_047282313.1:p.Ile52Val

Select item 145148068210.

rs1451480682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:129858596 (GRCh38)
11:129728491 (GRCh37)
Canonical SPDI:: NC_000011.10:129858595:C:A,NC_000011.10:129858595:C:T
Gene:: TMEM45B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00011/1 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.129858596C>A, NC_000011.10:g.129858596C>T, NC_000011.9:g.129728491C>A, NC_000011.9:g.129728491C>T, NM_138788.5:c.739C>A, NM_138788.5:c.739C>T, NM_138788.4:c.739C>A, NM_138788.4:c.739C>T, NM_138788.3:c.739C>A, NM_138788.3:c.739C>T, XM_017017188.2:c.739C>A, XM_017017188.2:c.739C>T, XM_017017188.1:c.739C>A, XM_017017188.1:c.739C>T, NM_001331210.2:c.739C>A, NM_001331210.2:c.739C>T, NM_001331210.1:c.739C>A, NM_001331210.1:c.739C>T, NM_001331212.2:c.739C>A, NM_001331212.2:c.739C>T, NM_001331212.1:c.739C>A, NM_001331212.1:c.739C>T, NM_001331211.2:c.739C>A, NM_001331211.2:c.739C>T, NM_001331211.1:c.739C>A, NM_001331211.1:c.739C>T, XM_047426356.1:c.739C>A, XM_047426356.1:c.739C>T, XM_047426354.1:c.739C>A, XM_047426354.1:c.739C>T, XM_047426358.1:c.739C>A, XM_047426358.1:c.739C>T, XM_047426355.1:c.739C>A, XM_047426355.1:c.739C>T, XM_047426357.1:c.739C>A, XM_047426357.1:c.739C>T, NP_620143.1:p.His247Asn, NP_620143.1:p.His247Tyr, XP_016872677.1:p.His247Asn, XP_016872677.1:p.His247Tyr, NP_001318139.1:p.His247Asn, NP_001318139.1:p.His247Tyr, NP_001318141.1:p.His247Asn, NP_001318141.1:p.His247Tyr, NP_001318140.1:p.His247Asn, NP_001318140.1:p.His247Tyr, XP_047282312.1:p.His247Asn, XP_047282312.1:p.His247Tyr, XP_047282310.1:p.His247Asn, XP_047282310.1:p.His247Tyr, XP_047282314.1:p.His247Asn, XP_047282314.1:p.His247Tyr, XP_047282311.1:p.His247Asn, XP_047282311.1:p.His247Tyr, XP_047282313.1:p.His247Asn, XP_047282313.1:p.His247Tyr

Select item 144832397511.

rs1448323975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:129855742 (GRCh38)
11:129725637 (GRCh37)
Canonical SPDI:: NC_000011.10:129855741:T:C
Gene:: TMEM45B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.129855742T>C, NC_000011.9:g.129725637T>C, NM_138788.5:c.420T>C, NM_138788.4:c.420T>C, NM_138788.3:c.420T>C, XM_017017188.2:c.420T>C, XM_017017188.1:c.420T>C, NM_001331210.2:c.420T>C, NM_001331210.1:c.420T>C, NM_001331212.2:c.420T>C, NM_001331212.1:c.420T>C, NM_001331211.2:c.420T>C, NM_001331211.1:c.420T>C, XM_047426356.1:c.420T>C, XM_047426354.1:c.420T>C, XM_047426358.1:c.420T>C, XM_047426355.1:c.420T>C, XM_047426357.1:c.420T>C

Select item 144356113812.

rs1443561138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:129854698 (GRCh38)
11:129724593 (GRCh37)
Canonical SPDI:: NC_000011.10:129854697:C:T
Gene:: TMEM45B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.129854698C>T, NC_000011.9:g.129724593C>T, NM_138788.5:c.267C>T, NM_138788.4:c.267C>T, NM_138788.3:c.267C>T, XM_017017188.2:c.267C>T, XM_017017188.1:c.267C>T, NM_001331210.2:c.267C>T, NM_001331210.1:c.267C>T, NM_001331212.2:c.267C>T, NM_001331212.1:c.267C>T, NM_001331211.2:c.267C>T, NM_001331211.1:c.267C>T, XM_047426356.1:c.267C>T, XM_047426354.1:c.267C>T, XM_047426358.1:c.267C>T, XM_047426355.1:c.267C>T, XM_047426357.1:c.267C>T

Select item 144078155513.

rs1440781555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:129857449 (GRCh38)
11:129727344 (GRCh37)
Canonical SPDI:: NC_000011.10:129857448:T:C
Gene:: TMEM45B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.129857449T>C, NC_000011.9:g.129727344T>C, NM_138788.5:c.707T>C, NM_138788.4:c.707T>C, NM_138788.3:c.707T>C, XM_017017188.2:c.707T>C, XM_017017188.1:c.707T>C, NM_001331210.2:c.707T>C, NM_001331210.1:c.707T>C, NM_001331212.2:c.707T>C, NM_001331212.1:c.707T>C, NM_001331211.2:c.707T>C, NM_001331211.1:c.707T>C, XM_047426356.1:c.707T>C, XM_047426354.1:c.707T>C, XM_047426358.1:c.707T>C, XM_047426355.1:c.707T>C, XM_047426357.1:c.707T>C, NP_620143.1:p.Leu236Pro, XP_016872677.1:p.Leu236Pro, NP_001318139.1:p.Leu236Pro, NP_001318141.1:p.Leu236Pro, NP_001318140.1:p.Leu236Pro, XP_047282312.1:p.Leu236Pro, XP_047282310.1:p.Leu236Pro, XP_047282314.1:p.Leu236Pro, XP_047282311.1:p.Leu236Pro, XP_047282313.1:p.Leu236Pro

Select item 143814317214.

rs1438143172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:129852614 (GRCh38)
11:129722509 (GRCh37)
Canonical SPDI:: NC_000011.10:129852613:T:C
Gene:: TMEM45B (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=0.000007/1 (GnomAD)
C=0.000064/17 (TOPMED)
HGVS:: NC_000011.10:g.129852614T>C, NC_000011.9:g.129722509T>C, NM_138788.5:c.132T>C, NM_138788.4:c.132T>C, NM_138788.3:c.132T>C, XM_017017188.2:c.132T>C, XM_017017188.1:c.132T>C, NM_001331210.2:c.132T>C, NM_001331210.1:c.132T>C, NM_001331212.2:c.132T>C, NM_001331212.1:c.132T>C, NM_001331211.2:c.132T>C, NM_001331211.1:c.132T>C, XM_047426356.1:c.132T>C, XM_047426354.1:c.132T>C, XM_047426358.1:c.132T>C, XM_047426355.1:c.132T>C, XM_047426357.1:c.132T>C

Select item 143510399115.

rs1435103991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:129852597 (GRCh38)
11:129722493 (GRCh37)
Canonical SPDI:: NC_000011.10:129852597:T:TT
Gene:: TMEM45B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.129852598dup, NC_000011.9:g.129722493dup, NM_138788.5:c.116dup, NM_138788.4:c.116dup, NM_138788.3:c.116dup, XM_017017188.2:c.116dup, XM_017017188.1:c.116dup, NM_001331210.2:c.116dup, NM_001331210.1:c.116dup, NM_001331212.2:c.116dup, NM_001331212.1:c.116dup, NM_001331211.2:c.116dup, NM_001331211.1:c.116dup, XM_047426356.1:c.116dup, XM_047426354.1:c.116dup, XM_047426358.1:c.116dup, XM_047426355.1:c.116dup, XM_047426357.1:c.116dup, NP_620143.1:p.His40fs, XP_016872677.1:p.His40fs, NP_001318139.1:p.His40fs, NP_001318141.1:p.His40fs, NP_001318140.1:p.His40fs, XP_047282312.1:p.His40fs, XP_047282310.1:p.His40fs, XP_047282314.1:p.His40fs, XP_047282311.1:p.His40fs, XP_047282313.1:p.His40fs

Select item 142764660116.

rs1427646601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:129854777 (GRCh38)
11:129724672 (GRCh37)
Canonical SPDI:: NC_000011.10:129854776:G:A,NC_000011.10:129854776:G:T
Gene:: TMEM45B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.129854777G>A, NC_000011.10:g.129854777G>T, NC_000011.9:g.129724672G>A, NC_000011.9:g.129724672G>T, NM_138788.5:c.346G>A, NM_138788.5:c.346G>T, NM_138788.4:c.346G>A, NM_138788.4:c.346G>T, NM_138788.3:c.346G>A, NM_138788.3:c.346G>T, XM_017017188.2:c.346G>A, XM_017017188.2:c.346G>T, XM_017017188.1:c.346G>A, XM_017017188.1:c.346G>T, NM_001331210.2:c.346G>A, NM_001331210.2:c.346G>T, NM_001331210.1:c.346G>A, NM_001331210.1:c.346G>T, NM_001331212.2:c.346G>A, NM_001331212.2:c.346G>T, NM_001331212.1:c.346G>A, NM_001331212.1:c.346G>T, NM_001331211.2:c.346G>A, NM_001331211.2:c.346G>T, NM_001331211.1:c.346G>A, NM_001331211.1:c.346G>T, XM_047426356.1:c.346G>A, XM_047426356.1:c.346G>T, XM_047426354.1:c.346G>A, XM_047426354.1:c.346G>T, XM_047426358.1:c.346G>A, XM_047426358.1:c.346G>T, XM_047426355.1:c.346G>A, XM_047426355.1:c.346G>T, XM_047426357.1:c.346G>A, XM_047426357.1:c.346G>T, NP_620143.1:p.Val116Met, NP_620143.1:p.Val116Leu, XP_016872677.1:p.Val116Met, XP_016872677.1:p.Val116Leu, NP_001318139.1:p.Val116Met, NP_001318139.1:p.Val116Leu, NP_001318141.1:p.Val116Met, NP_001318141.1:p.Val116Leu, NP_001318140.1:p.Val116Met, NP_001318140.1:p.Val116Leu, XP_047282312.1:p.Val116Met, XP_047282312.1:p.Val116Leu, XP_047282310.1:p.Val116Met, XP_047282310.1:p.Val116Leu, XP_047282314.1:p.Val116Met, XP_047282314.1:p.Val116Leu, XP_047282311.1:p.Val116Met, XP_047282311.1:p.Val116Leu, XP_047282313.1:p.Val116Met, XP_047282313.1:p.Val116Leu

Select item 142509166517.

rs1425091665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:129857382 (GRCh38)
11:129727277 (GRCh37)
Canonical SPDI:: NC_000011.10:129857381:T:A
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.129857382T>A, NC_000011.9:g.129727277T>A, NM_138788.5:c.640T>A, NM_138788.4:c.640T>A, NM_138788.3:c.640T>A, XM_017017188.2:c.640T>A, XM_017017188.1:c.640T>A, NM_001331210.2:c.640T>A, NM_001331210.1:c.640T>A, NM_001331212.2:c.640T>A, NM_001331212.1:c.640T>A, NM_001331211.2:c.640T>A, NM_001331211.1:c.640T>A, XM_047426356.1:c.640T>A, XM_047426354.1:c.640T>A, XM_047426358.1:c.640T>A, XM_047426355.1:c.640T>A, XM_047426357.1:c.640T>A, NP_620143.1:p.Phe214Ile, XP_016872677.1:p.Phe214Ile, NP_001318139.1:p.Phe214Ile, NP_001318141.1:p.Phe214Ile, NP_001318140.1:p.Phe214Ile, XP_047282312.1:p.Phe214Ile, XP_047282310.1:p.Phe214Ile, XP_047282314.1:p.Phe214Ile, XP_047282311.1:p.Phe214Ile, XP_047282313.1:p.Phe214Ile

Select item 142504003718.

rs1425040037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:129854639 (GRCh38)
11:129724534 (GRCh37)
Canonical SPDI:: NC_000011.10:129854638:G:A
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.129854639G>A, NC_000011.9:g.129724534G>A, NM_138788.5:c.208G>A, NM_138788.4:c.208G>A, NM_138788.3:c.208G>A, XM_017017188.2:c.208G>A, XM_017017188.1:c.208G>A, NM_001331210.2:c.208G>A, NM_001331210.1:c.208G>A, NM_001331212.2:c.208G>A, NM_001331212.1:c.208G>A, NM_001331211.2:c.208G>A, NM_001331211.1:c.208G>A, XM_047426356.1:c.208G>A, XM_047426354.1:c.208G>A, XM_047426358.1:c.208G>A, XM_047426355.1:c.208G>A, XM_047426357.1:c.208G>A, NP_620143.1:p.Gly70Arg, XP_016872677.1:p.Gly70Arg, NP_001318139.1:p.Gly70Arg, NP_001318141.1:p.Gly70Arg, NP_001318140.1:p.Gly70Arg, XP_047282312.1:p.Gly70Arg, XP_047282310.1:p.Gly70Arg, XP_047282314.1:p.Gly70Arg, XP_047282311.1:p.Gly70Arg, XP_047282313.1:p.Gly70Arg

Select item 142174812419.

rs1421748124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:129855866 (GRCh38)
11:129725761 (GRCh37)
Canonical SPDI:: NC_000011.10:129855865:A:G
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.129855866A>G, NC_000011.9:g.129725761A>G, NM_138788.5:c.544A>G, NM_138788.4:c.544A>G, NM_138788.3:c.544A>G, XM_017017188.2:c.544A>G, XM_017017188.1:c.544A>G, NM_001331210.2:c.544A>G, NM_001331210.1:c.544A>G, NM_001331212.2:c.544A>G, NM_001331212.1:c.544A>G, NM_001331211.2:c.544A>G, NM_001331211.1:c.544A>G, XM_047426356.1:c.544A>G, XM_047426354.1:c.544A>G, XM_047426358.1:c.544A>G, XM_047426355.1:c.544A>G, XM_047426357.1:c.544A>G, NP_620143.1:p.Ile182Val, XP_016872677.1:p.Ile182Val, NP_001318139.1:p.Ile182Val, NP_001318141.1:p.Ile182Val, NP_001318140.1:p.Ile182Val, XP_047282312.1:p.Ile182Val, XP_047282310.1:p.Ile182Val, XP_047282314.1:p.Ile182Val, XP_047282311.1:p.Ile182Val, XP_047282313.1:p.Ile182Val

Select item 142128095020.

rs1421280950 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 11:129855795 (GRCh38)
11:129725690 (GRCh37)
Canonical SPDI:: NC_000011.10:129855792:GTGTGT:GT,NC_000011.10:129855792:GTGTGT:GTGT
Gene:: TMEM45B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0.000447/2 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.129855793GT[1], NC_000011.10:g.129855793GT[2], NC_000011.9:g.129725688GT[1], NC_000011.9:g.129725688GT[2], NM_138788.5:c.473_476del, NM_138788.5:c.475_476del, NM_138788.4:c.473_476del, NM_138788.4:c.475_476del, NM_138788.3:c.473_476del, NM_138788.3:c.475_476del, XM_017017188.2:c.473_476del, XM_017017188.2:c.475_476del, XM_017017188.1:c.473_476del, XM_017017188.1:c.475_476del, NM_001331210.2:c.473_476del, NM_001331210.2:c.475_476del, NM_001331210.1:c.473_476del, NM_001331210.1:c.475_476del, NM_001331212.2:c.473_476del, NM_001331212.2:c.475_476del, NM_001331212.1:c.473_476del, NM_001331212.1:c.475_476del, NM_001331211.2:c.473_476del, NM_001331211.2:c.475_476del, NM_001331211.1:c.473_476del, NM_001331211.1:c.475_476del, XM_047426356.1:c.473_476del, XM_047426356.1:c.475_476del, XM_047426354.1:c.473_476del, XM_047426354.1:c.475_476del, XM_047426358.1:c.473_476del, XM_047426358.1:c.475_476del, XM_047426355.1:c.473_476del, XM_047426355.1:c.475_476del, XM_047426357.1:c.473_476del, XM_047426357.1:c.475_476del, NP_620143.1:p.Cys158fs, NP_620143.1:p.Cys158_Val159insTer, XP_016872677.1:p.Cys158fs, XP_016872677.1:p.Cys158_Val159insTer, NP_001318139.1:p.Cys158fs, NP_001318139.1:p.Cys158_Val159insTer, NP_001318141.1:p.Cys158fs, NP_001318141.1:p.Cys158_Val159insTer, NP_001318140.1:p.Cys158fs, NP_001318140.1:p.Cys158_Val159insTer, XP_047282312.1:p.Cys158fs, XP_047282312.1:p.Cys158_Val159insTer, XP_047282310.1:p.Cys158fs, XP_047282310.1:p.Cys158_Val159insTer, XP_047282314.1:p.Cys158fs, XP_047282314.1:p.Cys158_Val159insTer, XP_047282311.1:p.Cys158fs, XP_047282311.1:p.Cys158_Val159insTer, XP_047282313.1:p.Cys158fs, XP_047282313.1:p.Cys158_Val159insTer

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 315

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 315

Page of 16

Page of 16

Display Settings:

Supplemental Content

Find related data

Recent activity