SNP Links for Protein (Select 767903957) - SNP

Select item 14909450331.

rs1490945033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21838834 (GRCh38)
1:22165327 (GRCh37)
Canonical SPDI:: NC_000001.11:21838833:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21838834G>A, NC_000001.10:g.22165327G>A, NG_016740.1:g.103424C>T, NM_005529.7:c.10141C>T, NM_005529.6:c.10141C>T, NM_005529.5:c.10141C>T, NM_001291860.2:c.10144C>T, NM_001291860.1:c.10144C>T, XM_011541318.3:c.10690C>T, XM_011541318.2:c.10690C>T, XM_011541318.1:c.10690C>T, XM_047419080.1:c.10639C>T, XM_047419090.1:c.10636C>T, XM_017001120.1:c.10336C>T, XM_047419091.1:c.10333C>T, XM_017001121.1:c.10285C>T, XM_017001122.1:c.10282C>T, NP_005520.4:p.Leu3381Phe, NP_001278789.1:p.Leu3382Phe, XP_011539620.1:p.Leu3564Phe, XP_047275036.1:p.Leu3547Phe, XP_047275046.1:p.Leu3546Phe, XP_016856609.1:p.Leu3446Phe, XP_047275047.1:p.Leu3445Phe, XP_016856610.1:p.Leu3429Phe, XP_016856611.1:p.Leu3428Phe

Select item 14907780492.

rs1490778049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:21878446 (GRCh38)
1:22204939 (GRCh37)
Canonical SPDI:: NC_000001.11:21878445:C:T
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.21878446C>T, NC_000001.10:g.22204939C>T, NG_016740.1:g.63812G>A, NM_005529.7:c.2604G>A, NM_005529.6:c.2604G>A, NM_005529.5:c.2604G>A, NM_001291860.2:c.2607G>A, NM_001291860.1:c.2607G>A, XM_011541318.3:c.2658G>A, XM_011541318.2:c.2658G>A, XM_011541318.1:c.2658G>A, XM_047419080.1:c.2607G>A, XM_047419090.1:c.2604G>A, XM_017001120.1:c.2799G>A, XM_047419091.1:c.2796G>A, XM_017001121.1:c.2748G>A, XM_017001122.1:c.2745G>A

Select item 14903986923.

rs1490398692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:21878186 (GRCh38)
1:22204679 (GRCh37)
Canonical SPDI:: NC_000001.11:21878185:C:T
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.21878186C>T, NC_000001.10:g.22204679C>T, NG_016740.1:g.64072G>A, NM_005529.7:c.2685G>A, NM_005529.6:c.2685G>A, NM_005529.5:c.2685G>A, NM_001291860.2:c.2688G>A, NM_001291860.1:c.2688G>A, XM_011541318.3:c.2739G>A, XM_011541318.2:c.2739G>A, XM_011541318.1:c.2739G>A, XM_047419080.1:c.2688G>A, XM_047419090.1:c.2685G>A, XM_017001120.1:c.2880G>A, XM_047419091.1:c.2877G>A, XM_017001121.1:c.2829G>A, XM_017001122.1:c.2826G>A

Select item 14903551054.

rs1490355105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:21848961 (GRCh38)
1:22175454 (GRCh37)
Canonical SPDI:: NC_000001.11:21848960:A:G
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21848961A>G, NC_000001.10:g.22175454A>G, NG_016740.1:g.93297T>C, NM_005529.7:c.7517T>C, NM_005529.6:c.7517T>C, NM_005529.5:c.7517T>C, NM_001291860.2:c.7520T>C, NM_001291860.1:c.7520T>C, XM_011541318.3:c.8066T>C, XM_011541318.2:c.8066T>C, XM_011541318.1:c.8066T>C, XM_047419080.1:c.8015T>C, XM_047419090.1:c.8012T>C, XM_017001120.1:c.7712T>C, XM_047419091.1:c.7709T>C, XM_017001121.1:c.7661T>C, XM_017001122.1:c.7658T>C, NP_005520.4:p.Val2506Ala, NP_001278789.1:p.Val2507Ala, XP_011539620.1:p.Val2689Ala, XP_047275036.1:p.Val2672Ala, XP_047275046.1:p.Val2671Ala, XP_016856609.1:p.Val2571Ala, XP_047275047.1:p.Val2570Ala, XP_016856610.1:p.Val2554Ala, XP_016856611.1:p.Val2553Ala

Select item 14901467125.

rs1490146712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21833344 (GRCh38)
1:22159837 (GRCh37)
Canonical SPDI:: NC_000001.11:21833343:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.21833344G>A, NC_000001.10:g.22159837G>A, NG_016740.1:g.108914C>T, NM_005529.7:c.11019C>T, NM_005529.6:c.11019C>T, NM_005529.5:c.11019C>T, NM_001291860.2:c.11022C>T, NM_001291860.1:c.11022C>T, XM_011541318.3:c.11568C>T, XM_011541318.2:c.11568C>T, XM_011541318.1:c.11568C>T, XM_047419080.1:c.11517C>T, XM_047419090.1:c.11514C>T, XM_017001120.1:c.11214C>T, XM_047419091.1:c.11211C>T, XM_017001121.1:c.11163C>T, XM_017001122.1:c.11160C>T

Select item 14894551136.

rs1489455113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:21875975 (GRCh38)
1:22202468 (GRCh37)
Canonical SPDI:: NC_000001.11:21875974:A:G
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.21875975A>G, NC_000001.10:g.22202468A>G, NG_016740.1:g.66283T>C, NM_005529.7:c.3071T>C, NM_005529.6:c.3071T>C, NM_005529.5:c.3071T>C, NM_001291860.2:c.3074T>C, NM_001291860.1:c.3074T>C, XM_011541318.3:c.3125T>C, XM_011541318.2:c.3125T>C, XM_011541318.1:c.3125T>C, XM_047419080.1:c.3074T>C, XM_047419090.1:c.3071T>C, XM_017001120.1:c.3266T>C, XM_047419091.1:c.3263T>C, XM_017001121.1:c.3215T>C, XM_017001122.1:c.3212T>C, NP_005520.4:p.Leu1024Pro, NP_001278789.1:p.Leu1025Pro, XP_011539620.1:p.Leu1042Pro, XP_047275036.1:p.Leu1025Pro, XP_047275046.1:p.Leu1024Pro, XP_016856609.1:p.Leu1089Pro, XP_047275047.1:p.Leu1088Pro, XP_016856610.1:p.Leu1072Pro, XP_016856611.1:p.Leu1071Pro

Select item 14893010967.

rs1489301096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21833356 (GRCh38)
1:22159849 (GRCh37)
Canonical SPDI:: NC_000001.11:21833355:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.21833356G>A, NC_000001.10:g.22159849G>A, NG_016740.1:g.108902C>T, NM_005529.7:c.11007C>T, NM_005529.6:c.11007C>T, NM_005529.5:c.11007C>T, NM_001291860.2:c.11010C>T, NM_001291860.1:c.11010C>T, XM_011541318.3:c.11556C>T, XM_011541318.2:c.11556C>T, XM_011541318.1:c.11556C>T, XM_047419080.1:c.11505C>T, XM_047419090.1:c.11502C>T, XM_017001120.1:c.11202C>T, XM_047419091.1:c.11199C>T, XM_017001121.1:c.11151C>T, XM_017001122.1:c.11148C>T

Select item 14890083248.

rs1489008324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:21828950 (GRCh38)
1:22155443 (GRCh37)
Canonical SPDI:: NC_000001.11:21828949:C:A
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21828950C>A, NC_000001.10:g.22155443C>A, NG_016740.1:g.113308G>T, NM_005529.7:c.12122G>T, NM_005529.6:c.12122G>T, NM_005529.5:c.12122G>T, NM_001291860.2:c.12125G>T, NM_001291860.1:c.12125G>T, XM_011541318.3:c.12671G>T, XM_011541318.2:c.12671G>T, XM_011541318.1:c.12671G>T, XM_047419080.1:c.12620G>T, XM_047419090.1:c.12617G>T, XM_017001120.1:c.12317G>T, XM_047419091.1:c.12314G>T, XM_017001121.1:c.12266G>T, XM_017001122.1:c.12263G>T, NP_005520.4:p.Gly4041Val, NP_001278789.1:p.Gly4042Val, XP_011539620.1:p.Gly4224Val, XP_047275036.1:p.Gly4207Val, XP_047275046.1:p.Gly4206Val, XP_016856609.1:p.Gly4106Val, XP_047275047.1:p.Gly4105Val, XP_016856610.1:p.Gly4089Val, XP_016856611.1:p.Gly4088Val

Select item 14888590169.

rs1488859016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:21834705 (GRCh38)
1:22161198 (GRCh37)
Canonical SPDI:: NC_000001.11:21834704:T:C
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21834705T>C, NC_000001.10:g.22161198T>C, NG_016740.1:g.107553A>G, NM_005529.7:c.10694A>G, NM_005529.6:c.10694A>G, NM_005529.5:c.10694A>G, NM_001291860.2:c.10697A>G, NM_001291860.1:c.10697A>G, XM_011541318.3:c.11243A>G, XM_011541318.2:c.11243A>G, XM_011541318.1:c.11243A>G, XM_047419080.1:c.11192A>G, XM_047419090.1:c.11189A>G, XM_017001120.1:c.10889A>G, XM_047419091.1:c.10886A>G, XM_017001121.1:c.10838A>G, XM_017001122.1:c.10835A>G, NP_005520.4:p.Gln3565Arg, NP_001278789.1:p.Gln3566Arg, XP_011539620.1:p.Gln3748Arg, XP_047275036.1:p.Gln3731Arg, XP_047275046.1:p.Gln3730Arg, XP_016856609.1:p.Gln3630Arg, XP_047275047.1:p.Gln3629Arg, XP_016856610.1:p.Gln3613Arg, XP_016856611.1:p.Gln3612Arg

Select item 148879310310.

rs1488793103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:21839897 (GRCh38)
1:22166390 (GRCh37)
Canonical SPDI:: NC_000001.11:21839896:G:C,NC_000001.11:21839896:G:T
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.21839897G>C, NC_000001.11:g.21839897G>T, NC_000001.10:g.22166390G>C, NC_000001.10:g.22166390G>T, NG_016740.1:g.102361C>G, NG_016740.1:g.102361C>A, NM_005529.7:c.9634C>G, NM_005529.7:c.9634C>A, NM_005529.6:c.9634C>G, NM_005529.6:c.9634C>A, NM_005529.5:c.9634C>G, NM_005529.5:c.9634C>A, NM_001291860.2:c.9637C>G, NM_001291860.2:c.9637C>A, NM_001291860.1:c.9637C>G, NM_001291860.1:c.9637C>A, XM_011541318.3:c.10183C>G, XM_011541318.3:c.10183C>A, XM_011541318.2:c.10183C>G, XM_011541318.2:c.10183C>A, XM_011541318.1:c.10183C>G, XM_011541318.1:c.10183C>A, XM_047419080.1:c.10132C>G, XM_047419080.1:c.10132C>A, XM_047419090.1:c.10129C>G, XM_047419090.1:c.10129C>A, XM_017001120.1:c.9829C>G, XM_017001120.1:c.9829C>A, XM_047419091.1:c.9826C>G, XM_047419091.1:c.9826C>A, XM_017001121.1:c.9778C>G, XM_017001121.1:c.9778C>A, XM_017001122.1:c.9775C>G, XM_017001122.1:c.9775C>A, NP_005520.4:p.Pro3212Ala, NP_005520.4:p.Pro3212Thr, NP_001278789.1:p.Pro3213Ala, NP_001278789.1:p.Pro3213Thr, XP_011539620.1:p.Pro3395Ala, XP_011539620.1:p.Pro3395Thr, XP_047275036.1:p.Pro3378Ala, XP_047275036.1:p.Pro3378Thr, XP_047275046.1:p.Pro3377Ala, XP_047275046.1:p.Pro3377Thr, XP_016856609.1:p.Pro3277Ala, XP_016856609.1:p.Pro3277Thr, XP_047275047.1:p.Pro3276Ala, XP_047275047.1:p.Pro3276Thr, XP_016856610.1:p.Pro3260Ala, XP_016856610.1:p.Pro3260Thr, XP_016856611.1:p.Pro3259Ala, XP_016856611.1:p.Pro3259Thr

Select item 148848636911.

rs1488486369 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:21874994 (GRCh38)
1:22201487 (GRCh37)
Canonical SPDI:: NC_000001.11:21874993:CC:C
Gene:: HSPG2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21874995del, NC_000001.10:g.22201488del, NG_016740.1:g.67264del, NM_005529.7:c.3311del, NM_005529.6:c.3311del, NM_005529.5:c.3311del, NM_001291860.2:c.3314del, NM_001291860.1:c.3314del, XM_011541318.3:c.3365del, XM_011541318.2:c.3365del, XM_011541318.1:c.3365del, XM_047419080.1:c.3314del, XM_047419090.1:c.3311del, XM_017001120.1:c.3506del, XM_047419091.1:c.3503del, XM_017001121.1:c.3455del, XM_017001122.1:c.3452del, NP_005520.4:p.Gly1104fs, NP_001278789.1:p.Gly1105fs, XP_011539620.1:p.Gly1122fs, XP_047275036.1:p.Gly1105fs, XP_047275046.1:p.Gly1104fs, XP_016856609.1:p.Gly1169fs, XP_047275047.1:p.Gly1168fs, XP_016856610.1:p.Gly1152fs, XP_016856611.1:p.Gly1151fs

Select item 148825150912.

rs1488251509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21872234 (GRCh38)
1:22198727 (GRCh37)
Canonical SPDI:: NC_000001.11:21872233:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21872234G>A, NC_000001.10:g.22198727G>A, NG_016740.1:g.70024C>T, NM_005529.7:c.4173C>T, NM_005529.6:c.4173C>T, NM_005529.5:c.4173C>T, NM_001291860.2:c.4176C>T, NM_001291860.1:c.4176C>T, XM_011541318.3:c.4227C>T, XM_011541318.2:c.4227C>T, XM_011541318.1:c.4227C>T, XM_047419080.1:c.4176C>T, XM_047419090.1:c.4173C>T, XM_017001120.1:c.4368C>T, XM_047419091.1:c.4365C>T, XM_017001121.1:c.4317C>T, XM_017001122.1:c.4314C>T

Select item 148802105713.

rs1488021057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21859637 (GRCh38)
1:22186130 (GRCh37)
Canonical SPDI:: NC_000001.11:21859636:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.21859637G>A, NC_000001.10:g.22186130G>A, NG_016740.1:g.82621C>T, NM_005529.7:c.5222C>T, NM_005529.6:c.5222C>T, NM_005529.5:c.5222C>T, NM_001291860.2:c.5225C>T, NM_001291860.1:c.5225C>T, XM_011541318.3:c.5771C>T, XM_011541318.2:c.5771C>T, XM_011541318.1:c.5771C>T, XM_047419080.1:c.5720C>T, XM_047419090.1:c.5717C>T, XM_017001120.1:c.5417C>T, XM_047419091.1:c.5414C>T, XM_017001121.1:c.5366C>T, XM_017001122.1:c.5363C>T, NP_005520.4:p.Ala1741Val, NP_001278789.1:p.Ala1742Val, XP_011539620.1:p.Ala1924Val, XP_047275036.1:p.Ala1907Val, XP_047275046.1:p.Ala1906Val, XP_016856609.1:p.Ala1806Val, XP_047275047.1:p.Ala1805Val, XP_016856610.1:p.Ala1789Val, XP_016856611.1:p.Ala1788Val

Select item 148796009314.

rs1487960093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21884535 (GRCh38)
1:22211028 (GRCh37)
Canonical SPDI:: NC_000001.11:21884534:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21884535G>A, NC_000001.10:g.22211028G>A, NG_016740.1:g.57723C>T, NM_005529.7:c.1647C>T, NM_005529.6:c.1647C>T, NM_005529.5:c.1647C>T, NM_001291860.2:c.1650C>T, NM_001291860.1:c.1650C>T, XM_011541318.3:c.1701C>T, XM_011541318.2:c.1701C>T, XM_011541318.1:c.1701C>T, XM_047419080.1:c.1650C>T, XM_047419090.1:c.1647C>T, XM_017001120.1:c.1842C>T, XM_047419091.1:c.1839C>T, XM_017001121.1:c.1791C>T, XM_017001122.1:c.1788C>T

Select item 148789981415.

rs1487899814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:21865747 (GRCh38)
1:22192240 (GRCh37)
Canonical SPDI:: NC_000001.11:21865746:G:A,NC_000001.11:21865746:G:C
Gene:: HSPG2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.21865747G>A, NC_000001.11:g.21865747G>C, NC_000001.10:g.22192240G>A, NC_000001.10:g.22192240G>C, NG_016740.1:g.76511C>T, NG_016740.1:g.76511C>G, NM_005529.7:c.4284C>T, NM_005529.7:c.4284C>G, NM_005529.6:c.4284C>T, NM_005529.6:c.4284C>G, NM_005529.5:c.4284C>T, NM_005529.5:c.4284C>G, NM_001291860.2:c.4287C>T, NM_001291860.2:c.4287C>G, NM_001291860.1:c.4287C>T, NM_001291860.1:c.4287C>G, XM_011541318.3:c.4833C>T, XM_011541318.3:c.4833C>G, XM_011541318.2:c.4833C>T, XM_011541318.2:c.4833C>G, XM_011541318.1:c.4833C>T, XM_011541318.1:c.4833C>G, XM_047419080.1:c.4782C>T, XM_047419080.1:c.4782C>G, XM_047419090.1:c.4779C>T, XM_047419090.1:c.4779C>G, XM_017001120.1:c.4479C>T, XM_017001120.1:c.4479C>G, XM_047419091.1:c.4476C>T, XM_047419091.1:c.4476C>G, XM_017001121.1:c.4428C>T, XM_017001121.1:c.4428C>G, XM_017001122.1:c.4425C>T, XM_017001122.1:c.4425C>G, NP_005520.4:p.Ser1428Arg, NP_001278789.1:p.Ser1429Arg, XP_011539620.1:p.Ser1611Arg, XP_047275036.1:p.Ser1594Arg, XP_047275046.1:p.Ser1593Arg, XP_016856609.1:p.Ser1493Arg, XP_047275047.1:p.Ser1492Arg, XP_016856610.1:p.Ser1476Arg, XP_016856611.1:p.Ser1475Arg

Select item 148781075416.

rs1487810754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:21854262 (GRCh38)
1:22180755 (GRCh37)
Canonical SPDI:: NC_000001.11:21854261:C:T
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.21854262C>T, NC_000001.10:g.22180755C>T, NG_016740.1:g.87996G>A, NM_005529.7:c.6370G>A, NM_005529.6:c.6370G>A, NM_005529.5:c.6370G>A, NM_001291860.2:c.6373G>A, NM_001291860.1:c.6373G>A, XM_011541318.3:c.6919G>A, XM_011541318.2:c.6919G>A, XM_011541318.1:c.6919G>A, XM_047419080.1:c.6868G>A, XM_047419090.1:c.6865G>A, XM_017001120.1:c.6565G>A, XM_047419091.1:c.6562G>A, XM_017001121.1:c.6514G>A, XM_017001122.1:c.6511G>A, NP_005520.4:p.Gly2124Ser, NP_001278789.1:p.Gly2125Ser, XP_011539620.1:p.Gly2307Ser, XP_047275036.1:p.Gly2290Ser, XP_047275046.1:p.Gly2289Ser, XP_016856609.1:p.Gly2189Ser, XP_047275047.1:p.Gly2188Ser, XP_016856610.1:p.Gly2172Ser, XP_016856611.1:p.Gly2171Ser

Select item 148748298017.

rs1487482980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:21854634 (GRCh38)
1:22181127 (GRCh37)
Canonical SPDI:: NC_000001.11:21854633:C:A,NC_000001.11:21854633:C:G,NC_000001.11:21854633:C:T
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.21854634C>A, NC_000001.11:g.21854634C>G, NC_000001.11:g.21854634C>T, NC_000001.10:g.22181127C>A, NC_000001.10:g.22181127C>G, NC_000001.10:g.22181127C>T, NG_016740.1:g.87624G>T, NG_016740.1:g.87624G>C, NG_016740.1:g.87624G>A, NM_005529.7:c.6265G>T, NM_005529.7:c.6265G>C, NM_005529.7:c.6265G>A, NM_005529.6:c.6265G>T, NM_005529.6:c.6265G>C, NM_005529.6:c.6265G>A, NM_005529.5:c.6265G>T, NM_005529.5:c.6265G>C, NM_005529.5:c.6265G>A, NM_001291860.2:c.6268G>T, NM_001291860.2:c.6268G>C, NM_001291860.2:c.6268G>A, NM_001291860.1:c.6268G>T, NM_001291860.1:c.6268G>C, NM_001291860.1:c.6268G>A, XM_011541318.3:c.6814G>T, XM_011541318.3:c.6814G>C, XM_011541318.3:c.6814G>A, XM_011541318.2:c.6814G>T, XM_011541318.2:c.6814G>C, XM_011541318.2:c.6814G>A, XM_011541318.1:c.6814G>T, XM_011541318.1:c.6814G>C, XM_011541318.1:c.6814G>A, XM_047419080.1:c.6763G>T, XM_047419080.1:c.6763G>C, XM_047419080.1:c.6763G>A, XM_047419090.1:c.6760G>T, XM_047419090.1:c.6760G>C, XM_047419090.1:c.6760G>A, XM_017001120.1:c.6460G>T, XM_017001120.1:c.6460G>C, XM_017001120.1:c.6460G>A, XM_047419091.1:c.6457G>T, XM_047419091.1:c.6457G>C, XM_047419091.1:c.6457G>A, XM_017001121.1:c.6409G>T, XM_017001121.1:c.6409G>C, XM_017001121.1:c.6409G>A, XM_017001122.1:c.6406G>T, XM_017001122.1:c.6406G>C, XM_017001122.1:c.6406G>A, NP_005520.4:p.Gly2089Cys, NP_005520.4:p.Gly2089Arg, NP_005520.4:p.Gly2089Ser, NP_001278789.1:p.Gly2090Cys, NP_001278789.1:p.Gly2090Arg, NP_001278789.1:p.Gly2090Ser, XP_011539620.1:p.Gly2272Cys, XP_011539620.1:p.Gly2272Arg, XP_011539620.1:p.Gly2272Ser, XP_047275036.1:p.Gly2255Cys, XP_047275036.1:p.Gly2255Arg, XP_047275036.1:p.Gly2255Ser, XP_047275046.1:p.Gly2254Cys, XP_047275046.1:p.Gly2254Arg, XP_047275046.1:p.Gly2254Ser, XP_016856609.1:p.Gly2154Cys, XP_016856609.1:p.Gly2154Arg, XP_016856609.1:p.Gly2154Ser, XP_047275047.1:p.Gly2153Cys, XP_047275047.1:p.Gly2153Arg, XP_047275047.1:p.Gly2153Ser, XP_016856610.1:p.Gly2137Cys, XP_016856610.1:p.Gly2137Arg, XP_016856610.1:p.Gly2137Ser, XP_016856611.1:p.Gly2136Cys, XP_016856611.1:p.Gly2136Arg, XP_016856611.1:p.Gly2136Ser

Select item 148735211018.

rs1487352110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:21846206 (GRCh38)
1:22172699 (GRCh37)
Canonical SPDI:: NC_000001.11:21846205:C:T
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.21846206C>T, NC_000001.10:g.22172699C>T, NG_016740.1:g.96052G>A, NM_005529.7:c.8366G>A, NM_005529.6:c.8366G>A, NM_005529.5:c.8366G>A, NM_001291860.2:c.8369G>A, NM_001291860.1:c.8369G>A, XM_011541318.3:c.8915G>A, XM_011541318.2:c.8915G>A, XM_011541318.1:c.8915G>A, XM_047419080.1:c.8864G>A, XM_047419090.1:c.8861G>A, XM_017001120.1:c.8561G>A, XM_047419091.1:c.8558G>A, XM_017001121.1:c.8510G>A, XM_017001122.1:c.8507G>A, NP_005520.4:p.Gly2789Asp, NP_001278789.1:p.Gly2790Asp, XP_011539620.1:p.Gly2972Asp, XP_047275036.1:p.Gly2955Asp, XP_047275046.1:p.Gly2954Asp, XP_016856609.1:p.Gly2854Asp, XP_047275047.1:p.Gly2853Asp, XP_016856610.1:p.Gly2837Asp, XP_016856611.1:p.Gly2836Asp

Select item 148727743119.

rs1487277431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:21828888 (GRCh38)
1:22155381 (GRCh37)
Canonical SPDI:: NC_000001.11:21828887:G:A
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.21828888G>A, NC_000001.10:g.22155381G>A, NG_016740.1:g.113370C>T, NM_005529.7:c.12184C>T, NM_005529.6:c.12184C>T, NM_005529.5:c.12184C>T, NM_001291860.2:c.12187C>T, NM_001291860.1:c.12187C>T, XM_011541318.3:c.12733C>T, XM_011541318.2:c.12733C>T, XM_011541318.1:c.12733C>T, XM_047419080.1:c.12682C>T, XM_047419090.1:c.12679C>T, XM_017001120.1:c.12379C>T, XM_047419091.1:c.12376C>T, XM_017001121.1:c.12328C>T, XM_017001122.1:c.12325C>T, NP_005520.4:p.Pro4062Ser, NP_001278789.1:p.Pro4063Ser, XP_011539620.1:p.Pro4245Ser, XP_047275036.1:p.Pro4228Ser, XP_047275046.1:p.Pro4227Ser, XP_016856609.1:p.Pro4127Ser, XP_047275047.1:p.Pro4126Ser, XP_016856610.1:p.Pro4110Ser, XP_016856611.1:p.Pro4109Ser

Select item 148706420920.

rs1487064209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:21854682 (GRCh38)
1:22181175 (GRCh37)
Canonical SPDI:: NC_000001.11:21854681:C:T
Gene:: HSPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.21854682C>T, NC_000001.10:g.22181175C>T, NG_016740.1:g.87576G>A, NM_005529.7:c.6217G>A, NM_005529.6:c.6217G>A, NM_005529.5:c.6217G>A, NM_001291860.2:c.6220G>A, NM_001291860.1:c.6220G>A, XM_011541318.3:c.6766G>A, XM_011541318.2:c.6766G>A, XM_011541318.1:c.6766G>A, XM_047419080.1:c.6715G>A, XM_047419090.1:c.6712G>A, XM_017001120.1:c.6412G>A, XM_047419091.1:c.6409G>A, XM_017001121.1:c.6361G>A, XM_017001122.1:c.6358G>A, NP_005520.4:p.Val2073Met, NP_001278789.1:p.Val2074Met, XP_011539620.1:p.Val2256Met, XP_047275036.1:p.Val2239Met, XP_047275046.1:p.Val2238Met, XP_016856609.1:p.Val2138Met, XP_047275047.1:p.Val2137Met, XP_016856610.1:p.Val2121Met, XP_016856611.1:p.Val2120Met

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