SNP Links for Protein (Select 38372921) - SNP

Links from Protein

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Select item 14860088891.

rs1486008889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:582325 (GRCh38)
19:582325 (GRCh37)
Canonical SPDI:: NC_000019.10:582324:A:G
Gene:: BSG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.582325A>G, NC_000019.9:g.582325A>G, NG_007468.1:g.16001A>G, NM_001728.4:c.1089A>G, NM_001728.3:c.1089A>G, NM_198591.4:c.462A>G, NM_198591.3:c.549A>G, NM_198591.2:c.549A>G, NM_198590.3:c.462A>G, NM_198590.2:c.462A>G, NM_198589.3:c.741A>G, NM_198589.2:c.741A>G, NM_001322243.2:c.741A>G, NM_001322243.1:c.741A>G

Select item 14840579262.

rs1484057926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:581562 (GRCh38)
19:581562 (GRCh37)
Canonical SPDI:: NC_000019.10:581561:A:C,NC_000019.10:581561:A:T
Gene:: BSG (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_000019.10:g.581562A>C, NC_000019.10:g.581562A>T, NC_000019.9:g.581562A>C, NC_000019.9:g.581562A>T, NG_007468.1:g.15238A>C, NG_007468.1:g.15238A>T, NM_001728.4:c.1040A>C, NM_001728.4:c.1040A>T, NM_001728.3:c.1040A>C, NM_001728.3:c.1040A>T, NM_198591.4:c.413A>C, NM_198591.4:c.413A>T, NM_198591.3:c.500A>C, NM_198591.3:c.500A>T, NM_198591.2:c.500A>C, NM_198591.2:c.500A>T, NM_198590.3:c.413A>C, NM_198590.3:c.413A>T, NM_198590.2:c.413A>C, NM_198590.2:c.413A>T, NM_198589.3:c.692A>C, NM_198589.3:c.692A>T, NM_198589.2:c.692A>C, NM_198589.2:c.692A>T, NM_001322243.2:c.692A>C, NM_001322243.2:c.692A>T, NM_001322243.1:c.692A>C, NM_001322243.1:c.692A>T, NP_001719.2:p.Lys347Thr, NP_001719.2:p.Lys347Met, NP_940993.2:p.Lys138Thr, NP_940993.2:p.Lys138Met, NP_940992.1:p.Lys138Thr, NP_940992.1:p.Lys138Met, NP_940991.1:p.Lys231Thr, NP_940991.1:p.Lys231Met, NP_001309172.1:p.Lys231Thr, NP_001309172.1:p.Lys231Met

Select item 14820618293.

rs1482061829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:580703 (GRCh38)
19:580703 (GRCh37)
Canonical SPDI:: NC_000019.10:580702:C:T
Gene:: BSG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.580703C>T, NC_000019.9:g.580703C>T, NG_007468.1:g.14379C>T, NM_001728.4:c.713C>T, NM_001728.3:c.713C>T, NM_198591.4:c.86C>T, NM_198591.3:c.173C>T, NM_198591.2:c.173C>T, NM_198590.3:c.86C>T, NM_198590.2:c.86C>T, NM_198589.3:c.365C>T, NM_198589.2:c.365C>T, NM_001322243.2:c.365C>T, NM_001322243.1:c.365C>T, NP_001719.2:p.Ala238Val, NP_940993.2:p.Ala29Val, NP_940992.1:p.Ala29Val, NP_940991.1:p.Ala122Val, NP_001309172.1:p.Ala122Val

Select item 14736444374.

rs1473644437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:581497 (GRCh38)
19:581497 (GRCh37)
Canonical SPDI:: NC_000019.10:581496:C:T
Gene:: BSG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.581497C>T, NC_000019.9:g.581497C>T, NG_007468.1:g.15173C>T, NM_001728.4:c.975C>T, NM_001728.3:c.975C>T, NM_198591.4:c.348C>T, NM_198591.3:c.435C>T, NM_198591.2:c.435C>T, NM_198590.3:c.348C>T, NM_198590.2:c.348C>T, NM_198589.3:c.627C>T, NM_198589.2:c.627C>T, NM_001322243.2:c.627C>T, NM_001322243.1:c.627C>T

Select item 14687644125.

rs1468764412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:581566 (GRCh38)
19:581566 (GRCh37)
Canonical SPDI:: NC_000019.10:581565:C:T
Gene:: BSG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.581566C>T, NC_000019.9:g.581566C>T, NG_007468.1:g.15242C>T, NM_001728.4:c.1044C>T, NM_001728.3:c.1044C>T, NM_198591.4:c.417C>T, NM_198591.3:c.504C>T, NM_198591.2:c.504C>T, NM_198590.3:c.417C>T, NM_198590.2:c.417C>T, NM_198589.3:c.696C>T, NM_198589.2:c.696C>T, NM_001322243.2:c.696C>T, NM_001322243.1:c.696C>T

Select item 14642720046.

rs1464272004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:581478 (GRCh38)
19:581478 (GRCh37)
Canonical SPDI:: NC_000019.10:581477:G:A
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.581478G>A, NC_000019.9:g.581478G>A, NG_007468.1:g.15154G>A, NM_001728.4:c.956G>A, NM_001728.3:c.956G>A, NM_198591.4:c.329G>A, NM_198591.3:c.416G>A, NM_198591.2:c.416G>A, NM_198590.3:c.329G>A, NM_198590.2:c.329G>A, NM_198589.3:c.608G>A, NM_198589.2:c.608G>A, NM_001322243.2:c.608G>A, NM_001322243.1:c.608G>A, NP_001719.2:p.Arg319His, NP_940993.2:p.Arg110His, NP_940992.1:p.Arg110His, NP_940991.1:p.Arg203His, NP_001309172.1:p.Arg203His

Select item 14641979807.

rs1464197980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:580457 (GRCh38)
19:580457 (GRCh37)
Canonical SPDI:: NC_000019.10:580456:C:A
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.580457C>A, NC_000019.9:g.580457C>A, NG_007468.1:g.14133C>A, NM_001728.4:c.651C>A, NM_001728.3:c.651C>A, NM_198591.4:c.24C>A, NM_198591.3:c.111C>A, NM_198591.2:c.111C>A, NM_198590.3:c.24C>A, NM_198590.2:c.24C>A, NM_198589.3:c.303C>A, NM_198589.2:c.303C>A, NM_001322243.2:c.303C>A, NM_001322243.1:c.303C>A

Select item 14616343618.

rs1461634361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:580713 (GRCh38)
19:580713 (GRCh37)
Canonical SPDI:: NC_000019.10:580712:C:G,NC_000019.10:580712:C:T
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.580713C>G, NC_000019.10:g.580713C>T, NC_000019.9:g.580713C>G, NC_000019.9:g.580713C>T, NG_007468.1:g.14389C>G, NG_007468.1:g.14389C>T, NM_001728.4:c.723C>G, NM_001728.4:c.723C>T, NM_001728.3:c.723C>G, NM_001728.3:c.723C>T, NM_198591.4:c.96C>G, NM_198591.4:c.96C>T, NM_198591.3:c.183C>G, NM_198591.3:c.183C>T, NM_198591.2:c.183C>G, NM_198591.2:c.183C>T, NM_198590.3:c.96C>G, NM_198590.3:c.96C>T, NM_198590.2:c.96C>G, NM_198590.2:c.96C>T, NM_198589.3:c.375C>G, NM_198589.3:c.375C>T, NM_198589.2:c.375C>G, NM_198589.2:c.375C>T, NM_001322243.2:c.375C>G, NM_001322243.2:c.375C>T, NM_001322243.1:c.375C>G, NM_001322243.1:c.375C>T

Select item 14616069149.

rs1461606914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:582553 (GRCh38)
19:582553 (GRCh37)
Canonical SPDI:: NC_000019.10:582552:C:T
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.00003/8 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.582553C>T, NC_000019.9:g.582553C>T, NG_007468.1:g.16229C>T, NM_001728.4:c.1134C>T, NM_001728.3:c.1134C>T, NM_198591.4:c.507C>T, NM_198591.3:c.594C>T, NM_198591.2:c.594C>T, NM_198590.3:c.507C>T, NM_198590.2:c.507C>T, NM_198589.3:c.786C>T, NM_198589.2:c.786C>T, NM_001322243.2:c.786C>T, NM_001322243.1:c.786C>T

Select item 145983062110.

rs1459830621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:580741 (GRCh38)
19:580741 (GRCh37)
Canonical SPDI:: NC_000019.10:580740:A:G,NC_000019.10:580740:A:T
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.580741A>G, NC_000019.10:g.580741A>T, NC_000019.9:g.580741A>G, NC_000019.9:g.580741A>T, NG_007468.1:g.14417A>G, NG_007468.1:g.14417A>T, NM_001728.4:c.751A>G, NM_001728.4:c.751A>T, NM_001728.3:c.751A>G, NM_001728.3:c.751A>T, NM_198591.4:c.124A>G, NM_198591.4:c.124A>T, NM_198591.3:c.211A>G, NM_198591.3:c.211A>T, NM_198591.2:c.211A>G, NM_198591.2:c.211A>T, NM_198590.3:c.124A>G, NM_198590.3:c.124A>T, NM_198590.2:c.124A>G, NM_198590.2:c.124A>T, NM_198589.3:c.403A>G, NM_198589.3:c.403A>T, NM_198589.2:c.403A>G, NM_198589.2:c.403A>T, NM_001322243.2:c.403A>G, NM_001322243.2:c.403A>T, NM_001322243.1:c.403A>G, NM_001322243.1:c.403A>T, NP_001719.2:p.Thr251Ala, NP_001719.2:p.Thr251Ser, NP_940993.2:p.Thr42Ala, NP_940993.2:p.Thr42Ser, NP_940992.1:p.Thr42Ala, NP_940992.1:p.Thr42Ser, NP_940991.1:p.Thr135Ala, NP_940991.1:p.Thr135Ser, NP_001309172.1:p.Thr135Ala, NP_001309172.1:p.Thr135Ser

Select item 145895504111.

rs1458955041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:581462 (GRCh38)
19:581462 (GRCh37)
Canonical SPDI:: NC_000019.10:581461:A:G
Gene:: BSG (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=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.581462A>G, NC_000019.9:g.581462A>G, NG_007468.1:g.15138A>G, NM_001728.4:c.940A>G, NM_001728.3:c.940A>G, NM_198591.4:c.313A>G, NM_198591.3:c.400A>G, NM_198591.2:c.400A>G, NM_198590.3:c.313A>G, NM_198590.2:c.313A>G, NM_198589.3:c.592A>G, NM_198589.2:c.592A>G, NM_001322243.2:c.592A>G, NM_001322243.1:c.592A>G, NP_001719.2:p.Ile314Val, NP_940993.2:p.Ile105Val, NP_940992.1:p.Ile105Val, NP_940991.1:p.Ile198Val, NP_001309172.1:p.Ile198Val

Select item 145595738712.

rs1455957387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:581506 (GRCh38)
19:581506 (GRCh37)
Canonical SPDI:: NC_000019.10:581505:C:T
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.581506C>T, NC_000019.9:g.581506C>T, NG_007468.1:g.15182C>T, NM_001728.4:c.984C>T, NM_001728.3:c.984C>T, NM_198591.4:c.357C>T, NM_198591.3:c.444C>T, NM_198591.2:c.444C>T, NM_198590.3:c.357C>T, NM_198590.2:c.357C>T, NM_198589.3:c.636C>T, NM_198589.2:c.636C>T, NM_001322243.2:c.636C>T, NM_001322243.1:c.636C>T

Select item 145317674713.

rs1453176747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:580699 (GRCh38)
19:580699 (GRCh37)
Canonical SPDI:: NC_000019.10:580698:A:G
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.580699A>G, NC_000019.9:g.580699A>G, NG_007468.1:g.14375A>G, NM_001728.4:c.709A>G, NM_001728.3:c.709A>G, NM_198591.4:c.82A>G, NM_198591.3:c.169A>G, NM_198591.2:c.169A>G, NM_198590.3:c.82A>G, NM_198590.2:c.82A>G, NM_198589.3:c.361A>G, NM_198589.2:c.361A>G, NM_001322243.2:c.361A>G, NM_001322243.1:c.361A>G, NP_001719.2:p.Thr237Ala, NP_940993.2:p.Thr28Ala, NP_940992.1:p.Thr28Ala, NP_940991.1:p.Thr121Ala, NP_001309172.1:p.Thr121Ala

Select item 144866094914.

rs1448660949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:581447 (GRCh38)
19:581447 (GRCh37)
Canonical SPDI:: NC_000019.10:581446:T:A
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.581447T>A, NC_000019.9:g.581447T>A, NG_007468.1:g.15123T>A, NM_001728.4:c.925T>A, NM_001728.3:c.925T>A, NM_198591.4:c.298T>A, NM_198591.3:c.385T>A, NM_198591.2:c.385T>A, NM_198590.3:c.298T>A, NM_198590.2:c.298T>A, NM_198589.3:c.577T>A, NM_198589.2:c.577T>A, NM_001322243.2:c.577T>A, NM_001322243.1:c.577T>A, NP_001719.2:p.Ser309Thr, NP_940993.2:p.Ser100Thr, NP_940992.1:p.Ser100Thr, NP_940991.1:p.Ser193Thr, NP_001309172.1:p.Ser193Thr

Select item 144503190015.

rs1445031900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:580461 (GRCh38)
19:580461 (GRCh37)
Canonical SPDI:: NC_000019.10:580460:G:A
Gene:: BSG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000087/23 (TOPMED)
HGVS:: NC_000019.10:g.580461G>A, NC_000019.9:g.580461G>A, NG_007468.1:g.14137G>A, NM_001728.4:c.655G>A, NM_001728.3:c.655G>A, NM_198591.4:c.28G>A, NM_198591.3:c.115G>A, NM_198591.2:c.115G>A, NM_198590.3:c.28G>A, NM_198590.2:c.28G>A, NM_198589.3:c.307G>A, NM_198589.2:c.307G>A, NM_001322243.2:c.307G>A, NM_001322243.1:c.307G>A, NP_001719.2:p.Gly219Arg, NP_940993.2:p.Gly10Arg, NP_940992.1:p.Gly10Arg, NP_940991.1:p.Gly103Arg, NP_001309172.1:p.Gly103Arg

Select item 143735453016.

rs1437354530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:581405 (GRCh38)
19:581405 (GRCh37)
Canonical SPDI:: NC_000019.10:581404:G:A,NC_000019.10:581404:G:C
Gene:: BSG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.581405G>A, NC_000019.10:g.581405G>C, NC_000019.9:g.581405G>A, NC_000019.9:g.581405G>C, NG_007468.1:g.15081G>A, NG_007468.1:g.15081G>C, NM_001728.4:c.883G>A, NM_001728.4:c.883G>C, NM_001728.3:c.883G>A, NM_001728.3:c.883G>C, NM_198591.4:c.256G>A, NM_198591.4:c.256G>C, NM_198591.3:c.343G>A, NM_198591.3:c.343G>C, NM_198591.2:c.343G>A, NM_198591.2:c.343G>C, NM_198590.3:c.256G>A, NM_198590.3:c.256G>C, NM_198590.2:c.256G>A, NM_198590.2:c.256G>C, NM_198589.3:c.535G>A, NM_198589.3:c.535G>C, NM_198589.2:c.535G>A, NM_198589.2:c.535G>C, NM_001322243.2:c.535G>A, NM_001322243.2:c.535G>C, NM_001322243.1:c.535G>A, NM_001322243.1:c.535G>C, NP_001719.2:p.Asp295Asn, NP_001719.2:p.Asp295His, NP_940993.2:p.Asp86Asn, NP_940993.2:p.Asp86His, NP_940992.1:p.Asp86Asn, NP_940992.1:p.Asp86His, NP_940991.1:p.Asp179Asn, NP_940991.1:p.Asp179His, NP_001309172.1:p.Asp179Asn, NP_001309172.1:p.Asp179His

Select item 143551880417.

rs1435518804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:580764 (GRCh38)
19:580764 (GRCh37)
Canonical SPDI:: NC_000019.10:580763:C:T
Gene:: BSG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.580764C>T, NC_000019.9:g.580764C>T, NG_007468.1:g.14440C>T, NM_001728.4:c.774C>T, NM_001728.3:c.774C>T, NM_198591.4:c.147C>T, NM_198591.3:c.234C>T, NM_198591.2:c.234C>T, NM_198590.3:c.147C>T, NM_198590.2:c.147C>T, NM_198589.3:c.426C>T, NM_198589.2:c.426C>T, NM_001322243.2:c.426C>T, NM_001322243.1:c.426C>T

Select item 143343147018.

rs1433431470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:581468 (GRCh38)
19:581468 (GRCh37)
Canonical SPDI:: NC_000019.10:581467:C:T
Gene:: BSG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.581468C>T, NC_000019.9:g.581468C>T, NG_007468.1:g.15144C>T, NM_001728.4:c.946C>T, NM_001728.3:c.946C>T, NM_198591.4:c.319C>T, NM_198591.3:c.406C>T, NM_198591.2:c.406C>T, NM_198590.3:c.319C>T, NM_198590.2:c.319C>T, NM_198589.3:c.598C>T, NM_198589.2:c.598C>T, NM_001322243.2:c.598C>T, NM_001322243.1:c.598C>T, NP_001719.2:p.Leu316Phe, NP_940993.2:p.Leu107Phe, NP_940992.1:p.Leu107Phe, NP_940991.1:p.Leu200Phe, NP_001309172.1:p.Leu200Phe

Select item 143332288919.

rs1433322889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:580438 (GRCh38)
19:580438 (GRCh37)
Canonical SPDI:: NC_000019.10:580437:G:A
Gene:: BSG (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_000019.10:g.580438G>A, NC_000019.9:g.580438G>A, NG_007468.1:g.14114G>A, NM_001728.4:c.632G>A, NM_001728.3:c.632G>A, NM_198591.4:c.5G>A, NM_198591.3:c.92G>A, NM_198591.2:c.92G>A, NM_198590.3:c.5G>A, NM_198590.2:c.5G>A, NM_198589.3:c.284G>A, NM_198589.2:c.284G>A, NM_001322243.2:c.284G>A, NM_001322243.1:c.284G>A, NP_001719.2:p.Gly211Asp, NP_940993.2:p.Gly2Asp, NP_940992.1:p.Gly2Asp, NP_940991.1:p.Gly95Asp, NP_001309172.1:p.Gly95Asp

Select item 142898410920.

rs1428984109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:581395 (GRCh38)
19:581395 (GRCh37)
Canonical SPDI:: NC_000019.10:581394:C:G
Gene:: BSG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.581395C>G, NC_000019.9:g.581395C>G, NG_007468.1:g.15071C>G, NM_001728.4:c.873C>G, NM_001728.3:c.873C>G, NM_198591.4:c.246C>G, NM_198591.3:c.333C>G, NM_198591.2:c.333C>G, NM_198590.3:c.246C>G, NM_198590.2:c.246C>G, NM_198589.3:c.525C>G, NM_198589.2:c.525C>G, NM_001322243.2:c.525C>G, NM_001322243.1:c.525C>G, NP_001719.2:p.Asn291Lys, NP_940993.2:p.Asn82Lys, NP_940992.1:p.Asn82Lys, NP_940991.1:p.Asn175Lys, NP_001309172.1:p.Asn175Lys

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