SNP Links for Protein (Select 1034580955) - SNP

Links from Protein

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Select item 14836446691.

rs1483644669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31287745 (GRCh38)
12:31440679 (GRCh37)
Canonical SPDI:: NC_000012.12:31287744:G:A
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.31287745G>A, NC_000012.11:g.31440679G>A, NT_187587.1:g.178539G>A, NM_021238.3:c.395C>T, NM_021238.2:c.395C>T, XM_011520803.3:c.395C>T, XM_011520803.2:c.716C>T, XM_011520803.1:c.716C>T, XM_017019762.3:c.395C>T, XM_017019762.2:c.395C>T, XM_017019762.1:c.395C>T, NM_001135811.2:c.395C>T, NM_001135811.1:c.395C>T, NM_001135812.2:c.395C>T, NM_001135812.1:c.395C>T, XM_047429272.1:c.395C>T, NP_067061.1:p.Ala132Val, XP_011519105.2:p.Ala132Val, XP_016875251.1:p.Ala132Val, NP_001129283.1:p.Ala132Val, NP_001129284.1:p.Ala132Val, XP_047285228.1:p.Ala132Val

Select item 14826207142.

rs1482620714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31298079 (GRCh38)
12:31451013 (GRCh37)
Canonical SPDI:: NC_000012.12:31298078:A:G
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31298079A>G, NC_000012.11:g.31451013A>G, NT_187587.1:g.188873A>G, NM_021238.3:c.126T>C, NM_021238.2:c.126T>C, XM_011520803.3:c.126T>C, XM_011520803.2:c.447T>C, XM_011520803.1:c.447T>C, XM_017019762.3:c.126T>C, XM_017019762.2:c.126T>C, XM_017019762.1:c.126T>C, NM_001135811.2:c.126T>C, NM_001135811.1:c.126T>C, NM_001135812.2:c.126T>C, NM_001135812.1:c.126T>C, XM_047429272.1:c.126T>C

Select item 14822477483.

rs1482247748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:31282836 (GRCh38)
12:31435770 (GRCh37)
Canonical SPDI:: NC_000012.12:31282835:C:T
Gene:: SINHCAF (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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31282836C>T, NC_000012.11:g.31435770C>T, NT_187587.1:g.173630C>T, NM_021238.3:c.542G>A, NM_021238.2:c.542G>A, XM_011520803.3:c.542G>A, XM_011520803.2:c.863G>A, XM_011520803.1:c.863G>A, XM_017019762.3:c.542G>A, XM_017019762.2:c.542G>A, XM_017019762.1:c.542G>A, NM_001135811.2:c.542G>A, NM_001135811.1:c.542G>A, NM_001135812.2:c.542G>A, NM_001135812.1:c.542G>A, XM_047429272.1:c.542G>A, NP_067061.1:p.Arg181His, XP_011519105.2:p.Arg181His, XP_016875251.1:p.Arg181His, NP_001129283.1:p.Arg181His, NP_001129284.1:p.Arg181His, XP_047285228.1:p.Arg181His

Select item 14817464674.

rs1481746467 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATCTGCCCCTGC [Show Flanks]
Chromosome:: 12:31282740 (GRCh38)
12:31435675 (GRCh37)
Canonical SPDI:: NC_000012.12:31282740:GC:GCCATCTGCCCCTGC
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCATCTGCCCCTGC=0./0 (ALFA)
GCCATCTGCCCCT=0.000004/1 (GnomAD_exomes)
GCCATCTGCCCCT=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.31282742_31282743insCATCTGCCCCTGC, NC_000012.11:g.31435676_31435677insCATCTGCCCCTGC, NT_187587.1:g.173536_173537insCATCTGCCCCTGC, NM_021238.3:c.637_638insAGGGGCAGATGGC, NM_021238.2:c.637_638insAGGGGCAGATGGC, XM_011520803.3:c.637_638insAGGGGCAGATGGC, XM_011520803.2:c.958_959insAGGGGCAGATGGC, XM_011520803.1:c.958_959insAGGGGCAGATGGC, XM_017019762.3:c.637_638insAGGGGCAGATGGC, XM_017019762.2:c.637_638insAGGGGCAGATGGC, XM_017019762.1:c.637_638insAGGGGCAGATGGC, NM_001135811.2:c.637_638insAGGGGCAGATGGC, NM_001135811.1:c.637_638insAGGGGCAGATGGC, NM_001135812.2:c.637_638insAGGGGCAGATGGC, NM_001135812.1:c.637_638insAGGGGCAGATGGC, XM_047429272.1:c.637_638insAGGGGCAGATGGC, NP_067061.1:p.Pro213fs, XP_011519105.2:p.Pro213fs, XP_016875251.1:p.Pro213fs, NP_001129283.1:p.Pro213fs, NP_001129284.1:p.Pro213fs, XP_047285228.1:p.Pro213fs

Select item 14718767355.

rs1471876735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:31293920 (GRCh38)
12:31446854 (GRCh37)
Canonical SPDI:: NC_000012.12:31293919:T:A
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31293920T>A, NC_000012.11:g.31446854T>A, NT_187587.1:g.184714T>A, NM_021238.3:c.240A>T, NM_021238.2:c.240A>T, XM_011520803.3:c.240A>T, XM_011520803.2:c.561A>T, XM_011520803.1:c.561A>T, XM_017019762.3:c.240A>T, XM_017019762.2:c.240A>T, XM_017019762.1:c.240A>T, NM_001135811.2:c.240A>T, NM_001135811.1:c.240A>T, NM_001135812.2:c.240A>T, NM_001135812.1:c.240A>T, XM_047429272.1:c.240A>T

Select item 14694751386.

rs1469475138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:31287750 (GRCh38)
12:31440684 (GRCh37)
Canonical SPDI:: NC_000012.12:31287749:G:T
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31287750G>T, NC_000012.11:g.31440684G>T, NT_187587.1:g.178544G>T, NM_021238.3:c.390C>A, NM_021238.2:c.390C>A, XM_011520803.3:c.390C>A, XM_011520803.2:c.711C>A, XM_011520803.1:c.711C>A, XM_017019762.3:c.390C>A, XM_017019762.2:c.390C>A, XM_017019762.1:c.390C>A, NM_001135811.2:c.390C>A, NM_001135811.1:c.390C>A, NM_001135812.2:c.390C>A, NM_001135812.1:c.390C>A, XM_047429272.1:c.390C>A

Select item 14645320777.

rs1464532077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:31295258 (GRCh38)
12:31448192 (GRCh37)
Canonical SPDI:: NC_000012.12:31295257:T:C,NC_000012.12:31295257:T:G
Gene:: SINHCAF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
G=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.31295258T>C, NC_000012.12:g.31295258T>G, NC_000012.11:g.31448192T>C, NC_000012.11:g.31448192T>G, NT_187587.1:g.186052T>C, NT_187587.1:g.186052T>G, NM_021238.3:c.204A>G, NM_021238.3:c.204A>C, NM_021238.2:c.204A>G, NM_021238.2:c.204A>C, XM_011520803.3:c.204A>G, XM_011520803.3:c.204A>C, XM_011520803.2:c.525A>G, XM_011520803.2:c.525A>C, XM_011520803.1:c.525A>G, XM_011520803.1:c.525A>C, XM_017019762.3:c.204A>G, XM_017019762.3:c.204A>C, XM_017019762.2:c.204A>G, XM_017019762.2:c.204A>C, XM_017019762.1:c.204A>G, XM_017019762.1:c.204A>C, NM_001135811.2:c.204A>G, NM_001135811.2:c.204A>C, NM_001135811.1:c.204A>G, NM_001135811.1:c.204A>C, NM_001135812.2:c.204A>G, NM_001135812.2:c.204A>C, NM_001135812.1:c.204A>G, NM_001135812.1:c.204A>C, XM_047429272.1:c.204A>G, XM_047429272.1:c.204A>C

Select item 14621657408.

rs1462165740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:31282771 (GRCh38)
12:31435705 (GRCh37)
Canonical SPDI:: NC_000012.12:31282770:C:A
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.31282771C>A, NC_000012.11:g.31435705C>A, NT_187587.1:g.173565C>A, NM_021238.3:c.607G>T, NM_021238.2:c.607G>T, XM_011520803.3:c.607G>T, XM_011520803.2:c.928G>T, XM_011520803.1:c.928G>T, XM_017019762.3:c.607G>T, XM_017019762.2:c.607G>T, XM_017019762.1:c.607G>T, NM_001135811.2:c.607G>T, NM_001135811.1:c.607G>T, NM_001135812.2:c.607G>T, NM_001135812.1:c.607G>T, XM_047429272.1:c.607G>T, NP_067061.1:p.Ala203Ser, XP_011519105.2:p.Ala203Ser, XP_016875251.1:p.Ala203Ser, NP_001129283.1:p.Ala203Ser, NP_001129284.1:p.Ala203Ser, XP_047285228.1:p.Ala203Ser

Select item 14603747349.

rs1460374734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31282796 (GRCh38)
12:31435730 (GRCh37)
Canonical SPDI:: NC_000012.12:31282795:A:G
Gene:: SINHCAF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.31282796A>G, NC_000012.11:g.31435730A>G, NT_187587.1:g.173590A>G, NM_021238.3:c.582T>C, NM_021238.2:c.582T>C, XM_011520803.3:c.582T>C, XM_011520803.2:c.903T>C, XM_011520803.1:c.903T>C, XM_017019762.3:c.582T>C, XM_017019762.2:c.582T>C, XM_017019762.1:c.582T>C, NM_001135811.2:c.582T>C, NM_001135811.1:c.582T>C, NM_001135812.2:c.582T>C, NM_001135812.1:c.582T>C, XM_047429272.1:c.582T>C

Select item 145477992810.

rs1454779928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:31287730 (GRCh38)
12:31440664 (GRCh37)
Canonical SPDI:: NC_000012.12:31287729:T:G
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.31287730T>G, NC_000012.11:g.31440664T>G, NT_187587.1:g.178524T>G, NM_021238.3:c.410A>C, NM_021238.2:c.410A>C, XM_011520803.3:c.410A>C, XM_011520803.2:c.731A>C, XM_011520803.1:c.731A>C, XM_017019762.3:c.410A>C, XM_017019762.2:c.410A>C, XM_017019762.1:c.410A>C, NM_001135811.2:c.410A>C, NM_001135811.1:c.410A>C, NM_001135812.2:c.410A>C, NM_001135812.1:c.410A>C, XM_047429272.1:c.410A>C, NP_067061.1:p.Tyr137Ser, XP_011519105.2:p.Tyr137Ser, XP_016875251.1:p.Tyr137Ser, NP_001129283.1:p.Tyr137Ser, NP_001129284.1:p.Tyr137Ser, XP_047285228.1:p.Tyr137Ser

Select item 143408311111.

rs1434083111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:31295273 (GRCh38)
12:31448207 (GRCh37)
Canonical SPDI:: NC_000012.12:31295272:C:G
Gene:: SINHCAF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31295273C>G, NC_000012.11:g.31448207C>G, NT_187587.1:g.186067C>G, NM_021238.3:c.189G>C, NM_021238.2:c.189G>C, XM_011520803.3:c.189G>C, XM_011520803.2:c.510G>C, XM_011520803.1:c.510G>C, XM_017019762.3:c.189G>C, XM_017019762.2:c.189G>C, XM_017019762.1:c.189G>C, NM_001135811.2:c.189G>C, NM_001135811.1:c.189G>C, NM_001135812.2:c.189G>C, NM_001135812.1:c.189G>C, XM_047429272.1:c.189G>C, NP_067061.1:p.Trp63Cys, XP_011519105.2:p.Trp63Cys, XP_016875251.1:p.Trp63Cys, NP_001129283.1:p.Trp63Cys, NP_001129284.1:p.Trp63Cys, XP_047285228.1:p.Trp63Cys

Select item 141923154812.

rs1419231548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:31282748 (GRCh38)
12:31435682 (GRCh37)
Canonical SPDI:: NC_000012.12:31282747:C:A,NC_000012.12:31282747:C:G
Gene:: SINHCAF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.31282748C>A, NC_000012.12:g.31282748C>G, NC_000012.11:g.31435682C>A, NC_000012.11:g.31435682C>G, NT_187587.1:g.173542C>A, NT_187587.1:g.173542C>G, NM_021238.3:c.630G>T, NM_021238.3:c.630G>C, NM_021238.2:c.630G>T, NM_021238.2:c.630G>C, XM_011520803.3:c.630G>T, XM_011520803.3:c.630G>C, XM_011520803.2:c.951G>T, XM_011520803.2:c.951G>C, XM_011520803.1:c.951G>T, XM_011520803.1:c.951G>C, XM_017019762.3:c.630G>T, XM_017019762.3:c.630G>C, XM_017019762.2:c.630G>T, XM_017019762.2:c.630G>C, XM_017019762.1:c.630G>T, XM_017019762.1:c.630G>C, NM_001135811.2:c.630G>T, NM_001135811.2:c.630G>C, NM_001135811.1:c.630G>T, NM_001135811.1:c.630G>C, NM_001135812.2:c.630G>T, NM_001135812.2:c.630G>C, NM_001135812.1:c.630G>T, NM_001135812.1:c.630G>C, XM_047429272.1:c.630G>T, XM_047429272.1:c.630G>C

Select item 141601092713.

rs1416010927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31298121 (GRCh38)
12:31451055 (GRCh37)
Canonical SPDI:: NC_000012.12:31298120:G:A
Gene:: SINHCAF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31298121G>A, NC_000012.11:g.31451055G>A, NT_187587.1:g.188915G>A, NM_021238.3:c.84C>T, NM_021238.2:c.84C>T, XM_011520803.3:c.84C>T, XM_011520803.2:c.405C>T, XM_011520803.1:c.405C>T, XM_017019762.3:c.84C>T, XM_017019762.2:c.84C>T, XM_017019762.1:c.84C>T, NM_001135811.2:c.84C>T, NM_001135811.1:c.84C>T, NM_001135812.2:c.84C>T, NM_001135812.1:c.84C>T, XM_047429272.1:c.84C>T

Select item 139284046314.

rs1392840463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31295290 (GRCh38)
12:31448224 (GRCh37)
Canonical SPDI:: NC_000012.12:31295289:G:A
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31295290G>A, NC_000012.11:g.31448224G>A, NT_187587.1:g.186084G>A, NM_021238.3:c.172C>T, NM_021238.2:c.172C>T, XM_011520803.3:c.172C>T, XM_011520803.2:c.493C>T, XM_011520803.1:c.493C>T, XM_017019762.3:c.172C>T, XM_017019762.2:c.172C>T, XM_017019762.1:c.172C>T, NM_001135811.2:c.172C>T, NM_001135811.1:c.172C>T, NM_001135812.2:c.172C>T, NM_001135812.1:c.172C>T, XM_047429272.1:c.172C>T

Select item 138724035415.

rs1387240354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:31295329 (GRCh38)
12:31448263 (GRCh37)
Canonical SPDI:: NC_000012.12:31295328:G:C
Gene:: SINHCAF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31295329G>C, NC_000012.11:g.31448263G>C, NT_187587.1:g.186123G>C, NM_021238.3:c.133C>G, NM_021238.2:c.133C>G, XM_011520803.3:c.133C>G, XM_011520803.2:c.454C>G, XM_011520803.1:c.454C>G, XM_017019762.3:c.133C>G, XM_017019762.2:c.133C>G, XM_017019762.1:c.133C>G, NM_001135811.2:c.133C>G, NM_001135811.1:c.133C>G, NM_001135812.2:c.133C>G, NM_001135812.1:c.133C>G, XM_047429272.1:c.133C>G, NP_067061.1:p.His45Asp, XP_011519105.2:p.His45Asp, XP_016875251.1:p.His45Asp, NP_001129283.1:p.His45Asp, NP_001129284.1:p.His45Asp, XP_047285228.1:p.His45Asp

Select item 138321729016.

rs1383217290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:31287778 (GRCh38)
12:31440712 (GRCh37)
Canonical SPDI:: NC_000012.12:31287777:T:C
Gene:: SINHCAF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.31287778T>C, NC_000012.11:g.31440712T>C, NT_187587.1:g.178572T>C, NM_021238.3:c.362A>G, NM_021238.2:c.362A>G, XM_011520803.3:c.362A>G, XM_011520803.2:c.683A>G, XM_011520803.1:c.683A>G, XM_017019762.3:c.362A>G, XM_017019762.2:c.362A>G, XM_017019762.1:c.362A>G, NM_001135811.2:c.362A>G, NM_001135811.1:c.362A>G, NM_001135812.2:c.362A>G, NM_001135812.1:c.362A>G, XM_047429272.1:c.362A>G, NP_067061.1:p.Asp121Gly, XP_011519105.2:p.Asp121Gly, XP_016875251.1:p.Asp121Gly, NP_001129283.1:p.Asp121Gly, NP_001129284.1:p.Asp121Gly, XP_047285228.1:p.Asp121Gly

Select item 136796442217.

rs1367964422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31293914 (GRCh38)
12:31446848 (GRCh37)
Canonical SPDI:: NC_000012.12:31293913:A:G
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31293914A>G, NC_000012.11:g.31446848A>G, NT_187587.1:g.184708A>G, NM_021238.3:c.246T>C, NM_021238.2:c.246T>C, XM_011520803.3:c.246T>C, XM_011520803.2:c.567T>C, XM_011520803.1:c.567T>C, XM_017019762.3:c.246T>C, XM_017019762.2:c.246T>C, XM_017019762.1:c.246T>C, NM_001135811.2:c.246T>C, NM_001135811.1:c.246T>C, NM_001135812.2:c.246T>C, NM_001135812.1:c.246T>C, XM_047429272.1:c.246T>C

Select item 136751814618.

rs1367518146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31298190 (GRCh38)
12:31451124 (GRCh37)
Canonical SPDI:: NC_000012.12:31298189:G:A
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31298190G>A, NC_000012.11:g.31451124G>A, NT_187587.1:g.188984G>A, NM_021238.3:c.15C>T, NM_021238.2:c.15C>T, XM_011520803.3:c.15C>T, XM_011520803.2:c.336C>T, XM_011520803.1:c.336C>T, XM_017019762.3:c.15C>T, XM_017019762.2:c.15C>T, XM_017019762.1:c.15C>T, NM_001135811.2:c.15C>T, NM_001135811.1:c.15C>T, NM_001135812.2:c.15C>T, NM_001135812.1:c.15C>T, XM_047429272.1:c.15C>T

Select item 136577011919.

rs1365770119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:31295316 (GRCh38)
12:31448250 (GRCh37)
Canonical SPDI:: NC_000012.12:31295315:G:T
Gene:: SINHCAF (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.31295316G>T, NC_000012.11:g.31448250G>T, NT_187587.1:g.186110G>T, NM_021238.3:c.146C>A, NM_021238.2:c.146C>A, XM_011520803.3:c.146C>A, XM_011520803.2:c.467C>A, XM_011520803.1:c.467C>A, XM_017019762.3:c.146C>A, XM_017019762.2:c.146C>A, XM_017019762.1:c.146C>A, NM_001135811.2:c.146C>A, NM_001135811.1:c.146C>A, NM_001135812.2:c.146C>A, NM_001135812.1:c.146C>A, XM_047429272.1:c.146C>A, NP_067061.1:p.Ser49Ter, XP_011519105.2:p.Ser49Ter, XP_016875251.1:p.Ser49Ter, NP_001129283.1:p.Ser49Ter, NP_001129284.1:p.Ser49Ter, XP_047285228.1:p.Ser49Ter

Select item 135586131220.

rs1355861312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:31282767 (GRCh38)
12:31435701 (GRCh37)
Canonical SPDI:: NC_000012.12:31282766:T:C
Gene:: SINHCAF (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)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31282767T>C, NC_000012.11:g.31435701T>C, NT_187587.1:g.173561T>C, NM_021238.3:c.611A>G, NM_021238.2:c.611A>G, XM_011520803.3:c.611A>G, XM_011520803.2:c.932A>G, XM_011520803.1:c.932A>G, XM_017019762.3:c.611A>G, XM_017019762.2:c.611A>G, XM_017019762.1:c.611A>G, NM_001135811.2:c.611A>G, NM_001135811.1:c.611A>G, NM_001135812.2:c.611A>G, NM_001135812.1:c.611A>G, XM_047429272.1:c.611A>G, NP_067061.1:p.Glu204Gly, XP_011519105.2:p.Glu204Gly, XP_016875251.1:p.Glu204Gly, NP_001129283.1:p.Glu204Gly, NP_001129284.1:p.Glu204Gly, XP_047285228.1:p.Glu204Gly

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