SNP Links for Protein (Select 15193488) - SNP

Links from Protein

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Select item 14909714541.

rs1490971454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47228215 (GRCh38)
19:47731472 (GRCh37)
Canonical SPDI:: NC_000019.10:47228214:C:A
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.47228215C>A, NC_000019.9:g.47731472C>A, NG_031991.2:g.9552G>T, NM_014417.5:c.217G>T, NM_014417.4:c.217G>T, NM_001127240.3:c.320G>T, NM_001127240.2:c.320G>T, XM_006723141.4:c.217G>T, XM_006723141.3:c.217G>T, XM_006723141.2:c.217G>T, XM_006723141.1:c.217G>T, XM_011526722.3:c.265G>T, XM_011526722.2:c.265G>T, XM_011526722.1:c.265G>T, XM_047438606.1:c.217G>T, NP_055232.1:p.Gly73Trp, NP_001120712.1:p.Gly107Val, XP_006723204.1:p.Gly73Trp, XP_011525024.1:p.Gly89Trp, XP_047294562.1:p.Gly73Trp

Select item 14801676802.

rs1480167680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47228399 (GRCh38)
19:47731656 (GRCh37)
Canonical SPDI:: NC_000019.10:47228398:C:T
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.47228399C>T, NC_000019.9:g.47731656C>T, NG_031991.2:g.9368G>A, NM_014417.5:c.33G>A, NM_014417.4:c.33G>A, NM_001127240.3:c.136G>A, NM_001127240.2:c.136G>A, XM_006723141.4:c.33G>A, XM_006723141.3:c.33G>A, XM_006723141.2:c.33G>A, XM_006723141.1:c.33G>A, XM_011526722.3:c.81G>A, XM_011526722.2:c.81G>A, XM_011526722.1:c.81G>A, XM_047438606.1:c.33G>A, NP_001120712.1:p.Gly46Arg

Select item 14779898743.

rs1477989874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47228322 (GRCh38)
19:47731579 (GRCh37)
Canonical SPDI:: NC_000019.10:47228321:C:T
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47228322C>T, NC_000019.9:g.47731579C>T, NG_031991.2:g.9445G>A, NM_014417.5:c.110G>A, NM_014417.4:c.110G>A, NM_001127240.3:c.213G>A, NM_001127240.2:c.213G>A, XM_006723141.4:c.110G>A, XM_006723141.3:c.110G>A, XM_006723141.2:c.110G>A, XM_006723141.1:c.110G>A, XM_011526722.3:c.158G>A, XM_011526722.2:c.158G>A, XM_011526722.1:c.158G>A, XM_047438606.1:c.110G>A, NP_055232.1:p.Cys37Tyr, XP_006723204.1:p.Cys37Tyr, XP_011525024.1:p.Cys53Tyr, XP_047294562.1:p.Cys37Tyr

Select item 14748542974.

rs1474854297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:47226641 (GRCh38)
19:47729898 (GRCh37)
Canonical SPDI:: NC_000019.10:47226640:C:G
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_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_000019.10:g.47226641C>G, NC_000019.9:g.47729898C>G, NG_031991.2:g.11126G>C, NM_014417.5:c.388G>C, NM_014417.4:c.388G>C, NM_001127240.3:c.491G>C, NM_001127240.2:c.491G>C, NM_001127241.3:c.202G>C, NM_001127241.2:c.202G>C, XM_006723141.4:c.388G>C, XM_006723141.3:c.388G>C, XM_006723141.2:c.388G>C, XM_006723141.1:c.388G>C, XM_011526722.3:c.436G>C, XM_011526722.2:c.436G>C, XM_011526722.1:c.436G>C, XM_047438606.1:c.388G>C, NP_055232.1:p.Glu130Gln, NP_001120712.1:p.Gly164Ala, NP_001120713.1:p.Glu68Gln, XP_006723204.1:p.Glu130Gln, XP_011525024.1:p.Glu146Gln, XP_047294562.1:p.Glu130Gln

Select item 14738032885.

rs1473803288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47226729 (GRCh38)
19:47729986 (GRCh37)
Canonical SPDI:: NC_000019.10:47226728:C:T
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.47226729C>T, NC_000019.9:g.47729986C>T, NG_031991.2:g.11038G>A, NM_014417.5:c.300G>A, NM_014417.4:c.300G>A, NM_001127240.3:c.403G>A, NM_001127240.2:c.403G>A, NM_001127241.3:c.114G>A, NM_001127241.2:c.114G>A, XM_006723141.4:c.300G>A, XM_006723141.3:c.300G>A, XM_006723141.2:c.300G>A, XM_006723141.1:c.300G>A, XM_011526722.3:c.348G>A, XM_011526722.2:c.348G>A, XM_011526722.1:c.348G>A, XM_047438606.1:c.300G>A, NP_001120712.1:p.Gly135Arg

Select item 14704043836.

rs1470404383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47228342 (GRCh38)
19:47731599 (GRCh37)
Canonical SPDI:: NC_000019.10:47228341:C:A
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.47228342C>A, NC_000019.9:g.47731599C>A, NG_031991.2:g.9425G>T, NM_014417.5:c.90G>T, NM_014417.4:c.90G>T, NM_001127240.3:c.193G>T, NM_001127240.2:c.193G>T, XM_006723141.4:c.90G>T, XM_006723141.3:c.90G>T, XM_006723141.2:c.90G>T, XM_006723141.1:c.90G>T, XM_011526722.3:c.138G>T, XM_011526722.2:c.138G>T, XM_011526722.1:c.138G>T, XM_047438606.1:c.90G>T, NP_001120712.1:p.Gly65Cys

Select item 14673979247.

rs1467397924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:47226573 (GRCh38)
19:47729830 (GRCh37)
Canonical SPDI:: NC_000019.10:47226572:G:A,NC_000019.10:47226572:G:C
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained,synonymous_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47226573G>A, NC_000019.10:g.47226573G>C, NC_000019.9:g.47729830G>A, NC_000019.9:g.47729830G>C, NG_031991.2:g.11194C>T, NG_031991.2:g.11194C>G, NM_014417.5:c.456C>T, NM_014417.5:c.456C>G, NM_014417.4:c.456C>T, NM_014417.4:c.456C>G, NM_001127240.3:c.559C>T, NM_001127240.3:c.559C>G, NM_001127240.2:c.559C>T, NM_001127240.2:c.559C>G, NM_001127241.3:c.270C>T, NM_001127241.3:c.270C>G, NM_001127241.2:c.270C>T, NM_001127241.2:c.270C>G, XM_006723141.4:c.456C>T, XM_006723141.4:c.456C>G, XM_006723141.3:c.456C>T, XM_006723141.3:c.456C>G, XM_006723141.2:c.456C>T, XM_006723141.2:c.456C>G, XM_006723141.1:c.456C>T, XM_006723141.1:c.456C>G, XM_011526722.3:c.504C>T, XM_011526722.3:c.504C>G, XM_011526722.2:c.504C>T, XM_011526722.2:c.504C>G, XM_011526722.1:c.504C>T, XM_011526722.1:c.504C>G, XM_047438606.1:c.456C>T, XM_047438606.1:c.456C>G, NP_055232.1:p.Tyr152Ter, NP_001120712.1:p.Arg187Ter, NP_001120712.1:p.Arg187Gly, NP_001120713.1:p.Tyr90Ter, XP_006723204.1:p.Tyr152Ter, XP_011525024.1:p.Tyr168Ter, XP_047294562.1:p.Tyr152Ter

Select item 14636002888.

rs1463600288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47226719 (GRCh38)
19:47729976 (GRCh37)
Canonical SPDI:: NC_000019.10:47226718:G:A
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant,intron_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47226719G>A, NC_000019.9:g.47729976G>A, NG_031991.2:g.11048C>T, NM_014417.5:c.310C>T, NM_014417.4:c.310C>T, NM_001127240.3:c.413C>T, NM_001127240.2:c.413C>T, NM_001127241.3:c.124C>T, NM_001127241.2:c.124C>T, XM_006723141.4:c.310C>T, XM_006723141.3:c.310C>T, XM_006723141.2:c.310C>T, XM_006723141.1:c.310C>T, XM_011526722.3:c.358C>T, XM_011526722.2:c.358C>T, XM_011526722.1:c.358C>T, XM_047438606.1:c.310C>T, NP_001120712.1:p.Pro138Leu

Select item 14622467239.

rs1462246723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:47221836 (GRCh38)
19:47725093 (GRCh37)
Canonical SPDI:: NC_000019.10:47221835:C:G
Gene:: BBC3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47221836C>G, NC_000019.9:g.47725093C>G, NG_031991.2:g.15931G>C, NM_014417.5:c.548G>C, NM_014417.4:c.548G>C, NM_001127240.3:c.651G>C, NM_001127240.2:c.651G>C, NM_001127241.3:c.362G>C, NM_001127241.2:c.362G>C, NM_001127242.3:c.171G>C, NM_001127242.2:c.171G>C, XM_006723141.4:c.548G>C, XM_006723141.3:c.548G>C, XM_006723141.2:c.548G>C, XM_006723141.1:c.548G>C, XM_011526722.3:c.596G>C, XM_011526722.2:c.596G>C, XM_011526722.1:c.596G>C, XM_047438606.1:c.548G>C, NP_055232.1:p.Arg183Thr, NP_001120712.1:p.Gln217His, NP_001120713.1:p.Arg121Thr, NP_001120714.1:p.Gln57His, XP_006723204.1:p.Arg183Thr, XP_011525024.1:p.Arg199Thr, XP_047294562.1:p.Arg183Thr

Select item 146115822510.

rs1461158225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:47226707 (GRCh38)
19:47729964 (GRCh37)
Canonical SPDI:: NC_000019.10:47226706:C:A,NC_000019.10:47226706:C:G
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47226707C>A, NC_000019.10:g.47226707C>G, NC_000019.9:g.47729964C>A, NC_000019.9:g.47729964C>G, NG_031991.2:g.11060G>T, NG_031991.2:g.11060G>C, NM_014417.5:c.322G>T, NM_014417.5:c.322G>C, NM_014417.4:c.322G>T, NM_014417.4:c.322G>C, NM_001127240.3:c.425G>T, NM_001127240.3:c.425G>C, NM_001127240.2:c.425G>T, NM_001127240.2:c.425G>C, NM_001127241.3:c.136G>T, NM_001127241.3:c.136G>C, NM_001127241.2:c.136G>T, NM_001127241.2:c.136G>C, XM_006723141.4:c.322G>T, XM_006723141.4:c.322G>C, XM_006723141.3:c.322G>T, XM_006723141.3:c.322G>C, XM_006723141.2:c.322G>T, XM_006723141.2:c.322G>C, XM_006723141.1:c.322G>T, XM_006723141.1:c.322G>C, XM_011526722.3:c.370G>T, XM_011526722.3:c.370G>C, XM_011526722.2:c.370G>T, XM_011526722.2:c.370G>C, XM_011526722.1:c.370G>T, XM_011526722.1:c.370G>C, XM_047438606.1:c.322G>T, XM_047438606.1:c.322G>C, NP_055232.1:p.Val108Leu, NP_055232.1:p.Val108Leu, NP_001120712.1:p.Arg142Leu, NP_001120712.1:p.Arg142Pro, NP_001120713.1:p.Val46Leu, NP_001120713.1:p.Val46Leu, XP_006723204.1:p.Val108Leu, XP_006723204.1:p.Val108Leu, XP_011525024.1:p.Val124Leu, XP_011525024.1:p.Val124Leu, XP_047294562.1:p.Val108Leu, XP_047294562.1:p.Val108Leu

Select item 145982707311.

rs1459827073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47221865 (GRCh38)
19:47725122 (GRCh37)
Canonical SPDI:: NC_000019.10:47221864:A:G
Gene:: BBC3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47221865A>G, NC_000019.9:g.47725122A>G, NG_031991.2:g.15902T>C, NM_014417.5:c.519T>C, NM_014417.4:c.519T>C, NM_001127240.3:c.622T>C, NM_001127240.2:c.622T>C, NM_001127241.3:c.333T>C, NM_001127241.2:c.333T>C, NM_001127242.3:c.142T>C, NM_001127242.2:c.142T>C, XM_006723141.4:c.519T>C, XM_006723141.3:c.519T>C, XM_006723141.2:c.519T>C, XM_006723141.1:c.519T>C, XM_011526722.3:c.567T>C, XM_011526722.2:c.567T>C, XM_011526722.1:c.567T>C, XM_047438606.1:c.519T>C, NP_001120712.1:p.Ser208Pro, NP_001120714.1:p.Ser48Pro

Select item 145048775712.

rs1450487757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:47228217 (GRCh38)
19:47731474 (GRCh37)
Canonical SPDI:: NC_000019.10:47228216:A:C,NC_000019.10:47228216:A:G
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.014065/40 (KOREAN)
HGVS:: NC_000019.10:g.47228217A>C, NC_000019.10:g.47228217A>G, NC_000019.9:g.47731474A>C, NC_000019.9:g.47731474A>G, NG_031991.2:g.9550T>G, NG_031991.2:g.9550T>C, NM_014417.5:c.215T>G, NM_014417.5:c.215T>C, NM_014417.4:c.215T>G, NM_014417.4:c.215T>C, NM_001127240.3:c.318T>G, NM_001127240.3:c.318T>C, NM_001127240.2:c.318T>G, NM_001127240.2:c.318T>C, XM_006723141.4:c.215T>G, XM_006723141.4:c.215T>C, XM_006723141.3:c.215T>G, XM_006723141.3:c.215T>C, XM_006723141.2:c.215T>G, XM_006723141.2:c.215T>C, XM_006723141.1:c.215T>G, XM_006723141.1:c.215T>C, XM_011526722.3:c.263T>G, XM_011526722.3:c.263T>C, XM_011526722.2:c.263T>G, XM_011526722.2:c.263T>C, XM_011526722.1:c.263T>G, XM_011526722.1:c.263T>C, XM_047438606.1:c.215T>G, XM_047438606.1:c.215T>C, NP_055232.1:p.Leu72Arg, NP_055232.1:p.Leu72Pro, XP_006723204.1:p.Leu72Arg, XP_006723204.1:p.Leu72Pro, XP_011525024.1:p.Leu88Arg, XP_011525024.1:p.Leu88Pro, XP_047294562.1:p.Leu72Arg, XP_047294562.1:p.Leu72Pro

Select item 144426156013.

rs1444261560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47226653 (GRCh38)
19:47729910 (GRCh37)
Canonical SPDI:: NC_000019.10:47226652:C:T
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47226653C>T, NC_000019.9:g.47729910C>T, NG_031991.2:g.11114G>A, NM_014417.5:c.376G>A, NM_014417.4:c.376G>A, NM_001127240.3:c.479G>A, NM_001127240.2:c.479G>A, NM_001127241.3:c.190G>A, NM_001127241.2:c.190G>A, XM_006723141.4:c.376G>A, XM_006723141.3:c.376G>A, XM_006723141.2:c.376G>A, XM_006723141.1:c.376G>A, XM_011526722.3:c.424G>A, XM_011526722.2:c.424G>A, XM_011526722.1:c.424G>A, XM_047438606.1:c.376G>A, NP_055232.1:p.Val126Ile, NP_001120712.1:p.Ser160Asn, NP_001120713.1:p.Val64Ile, XP_006723204.1:p.Val126Ile, XP_011525024.1:p.Val142Ile, XP_047294562.1:p.Val126Ile

Select item 144418563114.

rs1444185631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47226674 (GRCh38)
19:47729931 (GRCh37)
Canonical SPDI:: NC_000019.10:47226673:G:A
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47226674G>A, NC_000019.9:g.47729931G>A, NG_031991.2:g.11093C>T, NM_014417.5:c.355C>T, NM_014417.4:c.355C>T, NM_001127240.3:c.458C>T, NM_001127240.2:c.458C>T, NM_001127241.3:c.169C>T, NM_001127241.2:c.169C>T, XM_006723141.4:c.355C>T, XM_006723141.3:c.355C>T, XM_006723141.2:c.355C>T, XM_006723141.1:c.355C>T, XM_011526722.3:c.403C>T, XM_011526722.2:c.403C>T, XM_011526722.1:c.403C>T, XM_047438606.1:c.355C>T, NP_055232.1:p.Pro119Ser, NP_001120712.1:p.Ser153Phe, NP_001120713.1:p.Pro57Ser, XP_006723204.1:p.Pro119Ser, XP_011525024.1:p.Pro135Ser, XP_047294562.1:p.Pro119Ser

Select item 144366040415.

rs1443660404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47226601 (GRCh38)
19:47729858 (GRCh37)
Canonical SPDI:: NC_000019.10:47226600:C:T
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,synonymous_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47226601C>T, NC_000019.9:g.47729858C>T, NG_031991.2:g.11166G>A, NM_014417.5:c.428G>A, NM_014417.4:c.428G>A, NM_001127240.3:c.531G>A, NM_001127240.2:c.531G>A, NM_001127241.3:c.242G>A, NM_001127241.2:c.242G>A, XM_006723141.4:c.428G>A, XM_006723141.3:c.428G>A, XM_006723141.2:c.428G>A, XM_006723141.1:c.428G>A, XM_011526722.3:c.476G>A, XM_011526722.2:c.476G>A, XM_011526722.1:c.476G>A, XM_047438606.1:c.428G>A, NP_055232.1:p.Arg143Gln, NP_001120713.1:p.Arg81Gln, XP_006723204.1:p.Arg143Gln, XP_011525024.1:p.Arg159Gln, XP_047294562.1:p.Arg143Gln

Select item 143336830716.

rs1433368307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47221898 (GRCh38)
19:47725155 (GRCh37)
Canonical SPDI:: NC_000019.10:47221897:C:T
Gene:: BBC3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_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_000019.10:g.47221898C>T, NC_000019.9:g.47725155C>T, NG_031991.2:g.15869G>A, NM_014417.5:c.486G>A, NM_014417.4:c.486G>A, NM_001127240.3:c.589G>A, NM_001127240.2:c.589G>A, NM_001127241.3:c.300G>A, NM_001127241.2:c.300G>A, NM_001127242.3:c.109G>A, NM_001127242.2:c.109G>A, XM_006723141.4:c.486G>A, XM_006723141.3:c.486G>A, XM_006723141.2:c.486G>A, XM_006723141.1:c.486G>A, XM_011526722.3:c.534G>A, XM_011526722.2:c.534G>A, XM_011526722.1:c.534G>A, XM_047438606.1:c.486G>A, NP_001120712.1:p.Ala197Thr, NP_001120714.1:p.Ala37Thr

Select item 143274176017.

rs1432741760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:47226635 (GRCh38)
19:47729892 (GRCh37)
Canonical SPDI:: NC_000019.10:47226634:G:A,NC_000019.10:47226634:G:T
Gene:: BBC3 (Varview), MIR3191 (Varview), MIR3190 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.47226635G>A, NC_000019.10:g.47226635G>T, NC_000019.9:g.47729892G>A, NC_000019.9:g.47729892G>T, NG_031991.2:g.11132C>T, NG_031991.2:g.11132C>A, NM_014417.5:c.394C>T, NM_014417.5:c.394C>A, NM_014417.4:c.394C>T, NM_014417.4:c.394C>A, NM_001127240.3:c.497C>T, NM_001127240.3:c.497C>A, NM_001127240.2:c.497C>T, NM_001127240.2:c.497C>A, NM_001127241.3:c.208C>T, NM_001127241.3:c.208C>A, NM_001127241.2:c.208C>T, NM_001127241.2:c.208C>A, XM_006723141.4:c.394C>T, XM_006723141.4:c.394C>A, XM_006723141.3:c.394C>T, XM_006723141.3:c.394C>A, XM_006723141.2:c.394C>T, XM_006723141.2:c.394C>A, XM_006723141.1:c.394C>T, XM_006723141.1:c.394C>A, XM_011526722.3:c.442C>T, XM_011526722.3:c.442C>A, XM_011526722.2:c.442C>T, XM_011526722.2:c.442C>A, XM_011526722.1:c.442C>T, XM_011526722.1:c.442C>A, XM_047438606.1:c.394C>T, XM_047438606.1:c.394C>A, NP_055232.1:p.Gln132Ter, NP_055232.1:p.Gln132Lys, NP_001120712.1:p.Thr166Ile, NP_001120712.1:p.Thr166Lys, NP_001120713.1:p.Gln70Ter, NP_001120713.1:p.Gln70Lys, XP_006723204.1:p.Gln132Ter, XP_006723204.1:p.Gln132Lys, XP_011525024.1:p.Gln148Ter, XP_011525024.1:p.Gln148Lys, XP_047294562.1:p.Gln132Ter, XP_047294562.1:p.Gln132Lys

Select item 143162465118.

rs1431624651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:47221883 (GRCh38)
19:47725140 (GRCh37)
Canonical SPDI:: NC_000019.10:47221882:G:C
Gene:: BBC3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47221883G>C, NC_000019.9:g.47725140G>C, NG_031991.2:g.15884C>G, NM_014417.5:c.501C>G, NM_014417.4:c.501C>G, NM_001127240.3:c.604C>G, NM_001127240.2:c.604C>G, NM_001127241.3:c.315C>G, NM_001127241.2:c.315C>G, NM_001127242.3:c.124C>G, NM_001127242.2:c.124C>G, XM_006723141.4:c.501C>G, XM_006723141.3:c.501C>G, XM_006723141.2:c.501C>G, XM_006723141.1:c.501C>G, XM_011526722.3:c.549C>G, XM_011526722.2:c.549C>G, XM_011526722.1:c.549C>G, XM_047438606.1:c.501C>G, NP_001120712.1:p.Leu202Val, NP_001120714.1:p.Leu42Val

Select item 142789591119.

rs1427895911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47221877 (GRCh38)
19:47725134 (GRCh37)
Canonical SPDI:: NC_000019.10:47221876:C:T
Gene:: BBC3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47221877C>T, NC_000019.9:g.47725134C>T, NG_031991.2:g.15890G>A, NM_014417.5:c.507G>A, NM_014417.4:c.507G>A, NM_001127240.3:c.610G>A, NM_001127240.2:c.610G>A, NM_001127241.3:c.321G>A, NM_001127241.2:c.321G>A, NM_001127242.3:c.130G>A, NM_001127242.2:c.130G>A, XM_006723141.4:c.507G>A, XM_006723141.3:c.507G>A, XM_006723141.2:c.507G>A, XM_006723141.1:c.507G>A, XM_011526722.3:c.555G>A, XM_011526722.2:c.555G>A, XM_011526722.1:c.555G>A, XM_047438606.1:c.507G>A, NP_001120712.1:p.Gly204Ser, NP_001120714.1:p.Gly44Ser

Select item 142652770420.

rs1426527704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47228350 (GRCh38)
19:47731607 (GRCh37)
Canonical SPDI:: NC_000019.10:47228349:C:A
Gene:: BBC3 (Varview), MIR3191 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000019.10:g.47228350C>A, NC_000019.9:g.47731607C>A, NG_031991.2:g.9417G>T, NM_014417.5:c.82G>T, NM_014417.4:c.82G>T, NM_001127240.3:c.185G>T, NM_001127240.2:c.185G>T, XM_006723141.4:c.82G>T, XM_006723141.3:c.82G>T, XM_006723141.2:c.82G>T, XM_006723141.1:c.82G>T, XM_011526722.3:c.130G>T, XM_011526722.2:c.130G>T, XM_011526722.1:c.130G>T, XM_047438606.1:c.82G>T, NP_055232.1:p.Gly28Cys, NP_001120712.1:p.Arg62Leu, XP_006723204.1:p.Gly28Cys, XP_011525024.1:p.Gly44Cys, XP_047294562.1:p.Gly28Cys

dbSNP

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