SNP Links for Protein (Select 13129098) - SNP

Select item 14914982891.

rs1491498289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:48149877 (GRCh38)
12:48543661 (GRCh37)
Canonical SPDI:: NC_000012.12:48149877:C:CC
Gene:: ASB8 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48149878dup, NC_000012.11:g.48543661dup, NM_024095.5:c.355dup, NM_024095.4:c.355dup, NM_024095.3:c.355dup, NM_001319296.2:c.355dup, NM_001319296.1:c.355dup, NM_001319298.2:c.172dup, NM_001319298.1:c.172dup, NM_001319299.2:c.172dup, NM_001319299.1:c.172dup, NM_001319300.2:c.*151dup, NM_001319300.1:c.*151dup, NM_001319301.2:c.*151dup, NM_001319301.1:c.*151dup, NM_001319297.2:c.355dup, NM_001319297.1:c.355dup, NP_077000.1:p.Asp119fs, NP_001306225.1:p.Asp119fs, NP_001306227.1:p.Asp58fs, NP_001306228.1:p.Asp58fs, NP_001306226.1:p.Asp119fs

Select item 14887078242.

rs1488707824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48153420 (GRCh38)
12:48547203 (GRCh37)
Canonical SPDI:: NC_000012.12:48153419:A:G
Gene:: ASB8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48153420A>G, NC_000012.11:g.48547203A>G, NM_024095.5:c.77T>C, NM_024095.4:c.77T>C, NM_024095.3:c.77T>C, NM_001319296.2:c.77T>C, NM_001319296.1:c.77T>C, NM_001319298.2:c.-208T>C, NM_001319298.1:c.-208T>C, NM_001319299.2:c.-208T>C, NM_001319299.1:c.-208T>C, NM_001319300.2:c.77T>C, NM_001319300.1:c.77T>C, NM_001319301.2:c.77T>C, NM_001319301.1:c.77T>C, NM_001319297.2:c.77T>C, NM_001319297.1:c.77T>C, NP_077000.1:p.Ile26Thr, NP_001306225.1:p.Ile26Thr, NP_001306229.1:p.Ile26Thr, NP_001306230.1:p.Ile26Thr, NP_001306226.1:p.Ile26Thr

Select item 14866401433.

rs1486640143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:48149834 (GRCh38)
12:48543617 (GRCh37)
Canonical SPDI:: NC_000012.12:48149833:A:T
Gene:: ASB8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48149834A>T, NC_000012.11:g.48543617A>T, NM_024095.5:c.399T>A, NM_024095.4:c.399T>A, NM_024095.3:c.399T>A, NM_001319296.2:c.399T>A, NM_001319296.1:c.399T>A, NM_001319298.2:c.216T>A, NM_001319298.1:c.216T>A, NM_001319299.2:c.216T>A, NM_001319299.1:c.216T>A, NM_001319300.2:c.*195T>A, NM_001319300.1:c.*195T>A, NM_001319301.2:c.*195T>A, NM_001319301.1:c.*195T>A, NM_001319297.2:c.399T>A, NM_001319297.1:c.399T>A, NP_077000.1:p.Cys133Ter, NP_001306225.1:p.Cys133Ter, NP_001306227.1:p.Cys72Ter, NP_001306228.1:p.Cys72Ter, NP_001306226.1:p.Cys133Ter

Select item 14863452144.

rs1486345214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:48153471 (GRCh38)
12:48547254 (GRCh37)
Canonical SPDI:: NC_000012.12:48153470:A:C,NC_000012.12:48153470:A:G
Gene:: ASB8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48153471A>C, NC_000012.12:g.48153471A>G, NC_000012.11:g.48547254A>C, NC_000012.11:g.48547254A>G, NM_024095.5:c.26T>G, NM_024095.5:c.26T>C, NM_024095.4:c.26T>G, NM_024095.4:c.26T>C, NM_024095.3:c.26T>G, NM_024095.3:c.26T>C, NM_001319296.2:c.26T>G, NM_001319296.2:c.26T>C, NM_001319296.1:c.26T>G, NM_001319296.1:c.26T>C, NM_001319298.2:c.-259T>G, NM_001319298.2:c.-259T>C, NM_001319298.1:c.-259T>G, NM_001319298.1:c.-259T>C, NM_001319299.2:c.-259T>G, NM_001319299.2:c.-259T>C, NM_001319299.1:c.-259T>G, NM_001319299.1:c.-259T>C, NM_001319300.2:c.26T>G, NM_001319300.2:c.26T>C, NM_001319300.1:c.26T>G, NM_001319300.1:c.26T>C, NM_001319301.2:c.26T>G, NM_001319301.2:c.26T>C, NM_001319301.1:c.26T>G, NM_001319301.1:c.26T>C, NM_001319297.2:c.26T>G, NM_001319297.2:c.26T>C, NM_001319297.1:c.26T>G, NM_001319297.1:c.26T>C, NP_077000.1:p.Met9Arg, NP_077000.1:p.Met9Thr, NP_001306225.1:p.Met9Arg, NP_001306225.1:p.Met9Thr, NP_001306229.1:p.Met9Arg, NP_001306229.1:p.Met9Thr, NP_001306230.1:p.Met9Arg, NP_001306230.1:p.Met9Thr, NP_001306226.1:p.Met9Arg, NP_001306226.1:p.Met9Thr

Select item 14861989405.

rs1486198940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:48149735 (GRCh38)
12:48543518 (GRCh37)
Canonical SPDI:: NC_000012.12:48149734:A:T
Gene:: ASB8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48149735A>T, NC_000012.11:g.48543518A>T, NM_024095.5:c.498T>A, NM_024095.4:c.498T>A, NM_024095.3:c.498T>A, NM_001319296.2:c.498T>A, NM_001319296.1:c.498T>A, NM_001319298.2:c.315T>A, NM_001319298.1:c.315T>A, NM_001319299.2:c.315T>A, NM_001319299.1:c.315T>A, NM_001319300.2:c.*294T>A, NM_001319300.1:c.*294T>A, NM_001319301.2:c.*294T>A, NM_001319301.1:c.*294T>A, NM_001319297.2:c.498T>A, NM_001319297.1:c.498T>A, NP_077000.1:p.Ser166Arg, NP_001306225.1:p.Ser166Arg, NP_001306227.1:p.Ser105Arg, NP_001306228.1:p.Ser105Arg, NP_001306226.1:p.Ser166Arg

Select item 14843805976.

rs1484380597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48149958 (GRCh38)
12:48543741 (GRCh37)
Canonical SPDI:: NC_000012.12:48149957:T:C
Gene:: ASB8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48149958T>C, NC_000012.11:g.48543741T>C, NM_024095.5:c.275A>G, NM_024095.4:c.275A>G, NM_024095.3:c.275A>G, NM_001319296.2:c.275A>G, NM_001319296.1:c.275A>G, NM_001319298.2:c.92A>G, NM_001319298.1:c.92A>G, NM_001319299.2:c.92A>G, NM_001319299.1:c.92A>G, NM_001319300.2:c.*71A>G, NM_001319300.1:c.*71A>G, NM_001319301.2:c.*71A>G, NM_001319301.1:c.*71A>G, NM_001319297.2:c.275A>G, NM_001319297.1:c.275A>G, NP_077000.1:p.Tyr92Cys, NP_001306225.1:p.Tyr92Cys, NP_001306227.1:p.Tyr31Cys, NP_001306228.1:p.Tyr31Cys, NP_001306226.1:p.Tyr92Cys

Select item 14809439667.

rs1480943966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48153382 (GRCh38)
12:48547165 (GRCh37)
Canonical SPDI:: NC_000012.12:48153381:C:T
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48153382C>T, NC_000012.11:g.48547165C>T, NM_024095.5:c.115G>A, NM_024095.4:c.115G>A, NM_024095.3:c.115G>A, NM_001319296.2:c.115G>A, NM_001319296.1:c.115G>A, NM_001319298.2:c.-170G>A, NM_001319298.1:c.-170G>A, NM_001319299.2:c.-170G>A, NM_001319299.1:c.-170G>A, NM_001319300.2:c.115G>A, NM_001319300.1:c.115G>A, NM_001319301.2:c.115G>A, NM_001319301.1:c.115G>A, NM_001319297.2:c.115G>A, NM_001319297.1:c.115G>A, NP_077000.1:p.Asp39Asn, NP_001306225.1:p.Asp39Asn, NP_001306229.1:p.Asp39Asn, NP_001306230.1:p.Asp39Asn, NP_001306226.1:p.Asp39Asn

Select item 14809130658.

rs1480913065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48149763 (GRCh38)
12:48543546 (GRCh37)
Canonical SPDI:: NC_000012.12:48149762:C:T
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48149763C>T, NC_000012.11:g.48543546C>T, NM_024095.5:c.470G>A, NM_024095.4:c.470G>A, NM_024095.3:c.470G>A, NM_001319296.2:c.470G>A, NM_001319296.1:c.470G>A, NM_001319298.2:c.287G>A, NM_001319298.1:c.287G>A, NM_001319299.2:c.287G>A, NM_001319299.1:c.287G>A, NM_001319300.2:c.*266G>A, NM_001319300.1:c.*266G>A, NM_001319301.2:c.*266G>A, NM_001319301.1:c.*266G>A, NM_001319297.2:c.470G>A, NM_001319297.1:c.470G>A, NP_077000.1:p.Trp157Ter, NP_001306225.1:p.Trp157Ter, NP_001306227.1:p.Trp96Ter, NP_001306228.1:p.Trp96Ter, NP_001306226.1:p.Trp157Ter

Select item 14768397869.

rs1476839786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48149714 (GRCh38)
12:48543497 (GRCh37)
Canonical SPDI:: NC_000012.12:48149713:A:G
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.48149714A>G, NC_000012.11:g.48543497A>G, NM_024095.5:c.519T>C, NM_024095.4:c.519T>C, NM_024095.3:c.519T>C, NM_001319296.2:c.519T>C, NM_001319296.1:c.519T>C, NM_001319298.2:c.336T>C, NM_001319298.1:c.336T>C, NM_001319299.2:c.336T>C, NM_001319299.1:c.336T>C, NM_001319300.2:c.*315T>C, NM_001319300.1:c.*315T>C, NM_001319301.2:c.*315T>C, NM_001319301.1:c.*315T>C, NM_001319297.2:c.519T>C, NM_001319297.1:c.519T>C

Select item 147189092110.

rs1471890921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48153381 (GRCh38)
12:48547164 (GRCh37)
Canonical SPDI:: NC_000012.12:48153380:T:C
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48153381T>C, NC_000012.11:g.48547164T>C, NM_024095.5:c.116A>G, NM_024095.4:c.116A>G, NM_024095.3:c.116A>G, NM_001319296.2:c.116A>G, NM_001319296.1:c.116A>G, NM_001319298.2:c.-169A>G, NM_001319298.1:c.-169A>G, NM_001319299.2:c.-169A>G, NM_001319299.1:c.-169A>G, NM_001319300.2:c.116A>G, NM_001319300.1:c.116A>G, NM_001319301.2:c.116A>G, NM_001319301.1:c.116A>G, NM_001319297.2:c.116A>G, NM_001319297.1:c.116A>G, NP_077000.1:p.Asp39Gly, NP_001306225.1:p.Asp39Gly, NP_001306229.1:p.Asp39Gly, NP_001306230.1:p.Asp39Gly, NP_001306226.1:p.Asp39Gly

Select item 146381610411.

rs1463816104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48149810 (GRCh38)
12:48543593 (GRCh37)
Canonical SPDI:: NC_000012.12:48149809:C:T
Gene:: ASB8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.48149810C>T, NC_000012.11:g.48543593C>T, NM_024095.5:c.423G>A, NM_024095.4:c.423G>A, NM_024095.3:c.423G>A, NM_001319296.2:c.423G>A, NM_001319296.1:c.423G>A, NM_001319298.2:c.240G>A, NM_001319298.1:c.240G>A, NM_001319299.2:c.240G>A, NM_001319299.1:c.240G>A, NM_001319300.2:c.*219G>A, NM_001319300.1:c.*219G>A, NM_001319301.2:c.*219G>A, NM_001319301.1:c.*219G>A, NM_001319297.2:c.423G>A, NM_001319297.1:c.423G>A

Select item 145900796112.

rs1459007961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48149679 (GRCh38)
12:48543462 (GRCh37)
Canonical SPDI:: NC_000012.12:48149678:T:C
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48149679T>C, NC_000012.11:g.48543462T>C, NM_024095.5:c.554A>G, NM_024095.4:c.554A>G, NM_024095.3:c.554A>G, NM_001319296.2:c.554A>G, NM_001319296.1:c.554A>G, NM_001319298.2:c.371A>G, NM_001319298.1:c.371A>G, NM_001319299.2:c.371A>G, NM_001319299.1:c.371A>G, NM_001319300.2:c.*350A>G, NM_001319300.1:c.*350A>G, NM_001319301.2:c.*350A>G, NM_001319301.1:c.*350A>G, NM_001319297.2:c.554A>G, NM_001319297.1:c.554A>G, NP_077000.1:p.Gln185Arg, NP_001306225.1:p.Gln185Arg, NP_001306227.1:p.Gln124Arg, NP_001306228.1:p.Gln124Arg, NP_001306226.1:p.Gln185Arg

Select item 145885139213.

rs1458851392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48149377 (GRCh38)
12:48543160 (GRCh37)
Canonical SPDI:: NC_000012.12:48149376:G:A
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48149377G>A, NC_000012.11:g.48543160G>A, NM_024095.5:c.856C>T, NM_024095.4:c.856C>T, NM_024095.3:c.856C>T, NM_001319296.2:c.856C>T, NM_001319296.1:c.856C>T, NM_001319298.2:c.673C>T, NM_001319298.1:c.673C>T, NM_001319299.2:c.673C>T, NM_001319299.1:c.673C>T, NM_001319300.2:c.*652C>T, NM_001319300.1:c.*652C>T, NM_001319301.2:c.*652C>T, NM_001319301.1:c.*652C>T, NM_001319297.2:c.856C>T, NM_001319297.1:c.856C>T, NP_077000.1:p.Leu286Phe, NP_001306225.1:p.Leu286Phe, NP_001306227.1:p.Leu225Phe, NP_001306228.1:p.Leu225Phe, NP_001306226.1:p.Leu286Phe

Select item 144745133214.

rs1447451332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48151291 (GRCh38)
12:48545074 (GRCh37)
Canonical SPDI:: NC_000012.12:48151290:G:A
Gene:: ASB8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000012.12:g.48151291G>A, NC_000012.11:g.48545074G>A, NM_024095.5:c.144C>T, NM_024095.4:c.144C>T, NM_024095.3:c.144C>T, NM_001319296.2:c.144C>T, NM_001319296.1:c.144C>T, NM_001319298.2:c.-40C>T, NM_001319298.1:c.-40C>T, NM_001319299.2:c.-40C>T, NM_001319299.1:c.-40C>T, NM_001319300.2:c.144C>T, NM_001319300.1:c.144C>T, NM_001319301.2:c.144C>T, NM_001319301.1:c.144C>T, NM_001319297.2:c.144C>T, NM_001319297.1:c.144C>T

Select item 144689001615.

rs1446890016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:48149791 (GRCh38)
12:48543574 (GRCh37)
Canonical SPDI:: NC_000012.12:48149790:C:A,NC_000012.12:48149790:C:T
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.48149791C>A, NC_000012.12:g.48149791C>T, NC_000012.11:g.48543574C>A, NC_000012.11:g.48543574C>T, NM_024095.5:c.442G>T, NM_024095.5:c.442G>A, NM_024095.4:c.442G>T, NM_024095.4:c.442G>A, NM_024095.3:c.442G>T, NM_024095.3:c.442G>A, NM_001319296.2:c.442G>T, NM_001319296.2:c.442G>A, NM_001319296.1:c.442G>T, NM_001319296.1:c.442G>A, NM_001319298.2:c.259G>T, NM_001319298.2:c.259G>A, NM_001319298.1:c.259G>T, NM_001319298.1:c.259G>A, NM_001319299.2:c.259G>T, NM_001319299.2:c.259G>A, NM_001319299.1:c.259G>T, NM_001319299.1:c.259G>A, NM_001319300.2:c.*238G>T, NM_001319300.2:c.*238G>A, NM_001319300.1:c.*238G>T, NM_001319300.1:c.*238G>A, NM_001319301.2:c.*238G>T, NM_001319301.2:c.*238G>A, NM_001319301.1:c.*238G>T, NM_001319301.1:c.*238G>A, NM_001319297.2:c.442G>T, NM_001319297.2:c.442G>A, NM_001319297.1:c.442G>T, NM_001319297.1:c.442G>A, NP_077000.1:p.Asp148Tyr, NP_077000.1:p.Asp148Asn, NP_001306225.1:p.Asp148Tyr, NP_001306225.1:p.Asp148Asn, NP_001306227.1:p.Asp87Tyr, NP_001306227.1:p.Asp87Asn, NP_001306228.1:p.Asp87Tyr, NP_001306228.1:p.Asp87Asn, NP_001306226.1:p.Asp148Tyr, NP_001306226.1:p.Asp148Asn

Select item 144586316016.

rs1445863160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48149439 (GRCh38)
12:48543222 (GRCh37)
Canonical SPDI:: NC_000012.12:48149438:T:C
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.48149439T>C, NC_000012.11:g.48543222T>C, NM_024095.5:c.794A>G, NM_024095.4:c.794A>G, NM_024095.3:c.794A>G, NM_001319296.2:c.794A>G, NM_001319296.1:c.794A>G, NM_001319298.2:c.611A>G, NM_001319298.1:c.611A>G, NM_001319299.2:c.611A>G, NM_001319299.1:c.611A>G, NM_001319300.2:c.*590A>G, NM_001319300.1:c.*590A>G, NM_001319301.2:c.*590A>G, NM_001319301.1:c.*590A>G, NM_001319297.2:c.794A>G, NM_001319297.1:c.794A>G, NP_077000.1:p.Gln265Arg, NP_001306225.1:p.Gln265Arg, NP_001306227.1:p.Gln204Arg, NP_001306228.1:p.Gln204Arg, NP_001306226.1:p.Gln265Arg

Select item 143475253317.

rs1434752533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:48149491 (GRCh38)
12:48543274 (GRCh37)
Canonical SPDI:: NC_000012.12:48149490:C:G
Gene:: ASB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48149491C>G, NC_000012.11:g.48543274C>G, NM_024095.5:c.742G>C, NM_024095.4:c.742G>C, NM_024095.3:c.742G>C, NM_001319296.2:c.742G>C, NM_001319296.1:c.742G>C, NM_001319298.2:c.559G>C, NM_001319298.1:c.559G>C, NM_001319299.2:c.559G>C, NM_001319299.1:c.559G>C, NM_001319300.2:c.*538G>C, NM_001319300.1:c.*538G>C, NM_001319301.2:c.*538G>C, NM_001319301.1:c.*538G>C, NM_001319297.2:c.742G>C, NM_001319297.1:c.742G>C, NP_077000.1:p.Gly248Arg, NP_001306225.1:p.Gly248Arg, NP_001306227.1:p.Gly187Arg, NP_001306228.1:p.Gly187Arg, NP_001306226.1:p.Gly248Arg

Select item 143409759118.

rs1434097591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:48149482 (GRCh38)
12:48543265 (GRCh37)
Canonical SPDI:: NC_000012.12:48149481:T:A,NC_000012.12:48149481:T:G
Gene:: ASB8 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48149482T>A, NC_000012.12:g.48149482T>G, NC_000012.11:g.48543265T>A, NC_000012.11:g.48543265T>G, NM_024095.5:c.751A>T, NM_024095.5:c.751A>C, NM_024095.4:c.751A>T, NM_024095.4:c.751A>C, NM_024095.3:c.751A>T, NM_024095.3:c.751A>C, NM_001319296.2:c.751A>T, NM_001319296.2:c.751A>C, NM_001319296.1:c.751A>T, NM_001319296.1:c.751A>C, NM_001319298.2:c.568A>T, NM_001319298.2:c.568A>C, NM_001319298.1:c.568A>T, NM_001319298.1:c.568A>C, NM_001319299.2:c.568A>T, NM_001319299.2:c.568A>C, NM_001319299.1:c.568A>T, NM_001319299.1:c.568A>C, NM_001319300.2:c.*547A>T, NM_001319300.2:c.*547A>C, NM_001319300.1:c.*547A>T, NM_001319300.1:c.*547A>C, NM_001319301.2:c.*547A>T, NM_001319301.2:c.*547A>C, NM_001319301.1:c.*547A>T, NM_001319301.1:c.*547A>C, NM_001319297.2:c.751A>T, NM_001319297.2:c.751A>C, NM_001319297.1:c.751A>T, NM_001319297.1:c.751A>C, NP_077000.1:p.Lys251Ter, NP_077000.1:p.Lys251Gln, NP_001306225.1:p.Lys251Ter, NP_001306225.1:p.Lys251Gln, NP_001306227.1:p.Lys190Ter, NP_001306227.1:p.Lys190Gln, NP_001306228.1:p.Lys190Ter, NP_001306228.1:p.Lys190Gln, NP_001306226.1:p.Lys251Ter, NP_001306226.1:p.Lys251Gln

Select item 143056486119.

rs1430564861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48151285 (GRCh38)
12:48545068 (GRCh37)
Canonical SPDI:: NC_000012.12:48151284:A:G
Gene:: ASB8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48151285A>G, NC_000012.11:g.48545068A>G, NM_024095.5:c.150T>C, NM_024095.4:c.150T>C, NM_024095.3:c.150T>C, NM_001319296.2:c.150T>C, NM_001319296.1:c.150T>C, NM_001319298.2:c.-34T>C, NM_001319298.1:c.-34T>C, NM_001319299.2:c.-34T>C, NM_001319299.1:c.-34T>C, NM_001319300.2:c.150T>C, NM_001319300.1:c.150T>C, NM_001319301.2:c.150T>C, NM_001319301.1:c.150T>C, NM_001319297.2:c.150T>C, NM_001319297.1:c.150T>C

Select item 142566999320.

rs1425669993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48149710 (GRCh38)
12:48543493 (GRCh37)
Canonical SPDI:: NC_000012.12:48149709:C:T
Gene:: ASB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48149710C>T, NC_000012.11:g.48543493C>T, NM_024095.5:c.523G>A, NM_024095.4:c.523G>A, NM_024095.3:c.523G>A, NM_001319296.2:c.523G>A, NM_001319296.1:c.523G>A, NM_001319298.2:c.340G>A, NM_001319298.1:c.340G>A, NM_001319299.2:c.340G>A, NM_001319299.1:c.340G>A, NM_001319300.2:c.*319G>A, NM_001319300.1:c.*319G>A, NM_001319301.2:c.*319G>A, NM_001319301.1:c.*319G>A, NM_001319297.2:c.523G>A, NM_001319297.1:c.523G>A, NP_077000.1:p.Ala175Thr, NP_001306225.1:p.Ala175Thr, NP_001306227.1:p.Ala114Thr, NP_001306228.1:p.Ala114Thr, NP_001306226.1:p.Ala175Thr

dbSNP

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Result Filters

Validation Status

Function Class

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Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 256

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