SNP Links for Protein (Select 14211841) - SNP

Select item 14897859391.

rs1489785939 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:127677253 (GRCh38)
3:127396096 (GRCh37)
Canonical SPDI:: NC_000003.12:127677252:GC:
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
HGVS:: NC_000003.12:g.127677253_127677254del, NC_000003.11:g.127396096_127396097del, NG_029479.1:g.9316_9317del, NM_032548.4:c.303_304del, NM_032548.3:c.303_304del, NM_172027.3:c.729_730del, NM_172027.2:c.729_730del, NR_033429.2:n.768_769del, NR_033429.1:n.782_783del, XM_006713769.4:c.735_736del, XM_006713769.3:c.735_736del, XM_006713769.2:c.735_736del, XM_006713769.1:c.735_736del, XM_017007286.3:c.537_538del, XM_017007286.2:c.537_538del, XM_017007286.1:c.537_538del, XM_017007285.2:c.612_613del, XM_017007285.1:c.612_613del, NR_033428.1:n.828_829del, NM_172028.1:c.654_655del, NP_115937.1:p.Leu102fs, NP_742024.1:p.Leu244fs, XP_006713832.1:p.Leu246fs, XP_016862775.1:p.Leu180fs, XP_016862774.1:p.Leu205fs

Select item 14885467262.

rs1488546726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:127677801 (GRCh38)
3:127396644 (GRCh37)
Canonical SPDI:: NC_000003.12:127677800:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127677801C>T, NC_000003.11:g.127396644C>T, NG_029479.1:g.9864C>T, NM_032548.4:c.561C>T, NM_032548.3:c.561C>T, NM_172027.3:c.987C>T, NM_172027.2:c.987C>T, NR_033429.2:n.1026C>T, NR_033429.1:n.1040C>T, XM_006713769.4:c.993C>T, XM_006713769.3:c.993C>T, XM_006713769.2:c.993C>T, XM_006713769.1:c.993C>T, XM_017007286.3:c.795C>T, XM_017007286.2:c.795C>T, XM_017007286.1:c.795C>T, XM_017007285.2:c.870C>T, XM_017007285.1:c.870C>T, NR_033428.1:n.1086C>T, NM_172028.1:c.912C>T

Select item 14872186773.

rs1487218677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:127677042 (GRCh38)
3:127395885 (GRCh37)
Canonical SPDI:: NC_000003.12:127677041:T:C
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.127677042T>C, NC_000003.11:g.127395885T>C, NG_029479.1:g.9105T>C, NM_032548.4:c.176T>C, NM_032548.3:c.176T>C, NM_172027.3:c.602T>C, NM_172027.2:c.602T>C, NR_033429.2:n.641T>C, NR_033429.1:n.655T>C, XM_006713769.4:c.608T>C, XM_006713769.3:c.608T>C, XM_006713769.2:c.608T>C, XM_006713769.1:c.608T>C, NR_033428.1:n.701T>C, NM_172028.1:c.527T>C, NP_115937.1:p.Leu59Pro, NP_742024.1:p.Leu201Pro, XP_006713832.1:p.Leu203Pro

Select item 14833873094.

rs1483387309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:127677499 (GRCh38)
3:127396342 (GRCh37)
Canonical SPDI:: NC_000003.12:127677498:A:G
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.127677499A>G, NC_000003.11:g.127396342A>G, NG_029479.1:g.9562A>G, NM_032548.4:c.371A>G, NM_032548.3:c.371A>G, NM_172027.3:c.797A>G, NM_172027.2:c.797A>G, NR_033429.2:n.836A>G, NR_033429.1:n.850A>G, XM_006713769.4:c.803A>G, XM_006713769.3:c.803A>G, XM_006713769.2:c.803A>G, XM_006713769.1:c.803A>G, XM_017007286.3:c.605A>G, XM_017007286.2:c.605A>G, XM_017007286.1:c.605A>G, XM_017007285.2:c.680A>G, XM_017007285.1:c.680A>G, NR_033428.1:n.896A>G, NM_172028.1:c.722A>G, NP_115937.1:p.Asp124Gly, NP_742024.1:p.Asp266Gly, XP_006713832.1:p.Asp268Gly, XP_016862775.1:p.Asp202Gly, XP_016862774.1:p.Asp227Gly

Select item 14795927465.

rs1479592746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:127680133 (GRCh38)
3:127398976 (GRCh37)
Canonical SPDI:: NC_000003.12:127680132:T:C
Gene:: ABTB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.127680133T>C, NC_000003.11:g.127398976T>C, NG_029479.1:g.12196T>C, NM_032548.4:c.752T>C, NM_032548.3:c.752T>C, NM_172027.3:c.1178T>C, NM_172027.2:c.1178T>C, NR_033429.2:n.1217T>C, NR_033429.1:n.1231T>C, XM_006713769.4:c.1184T>C, XM_006713769.3:c.1184T>C, XM_006713769.2:c.1184T>C, XM_006713769.1:c.1184T>C, XM_017007286.3:c.986T>C, XM_017007286.2:c.986T>C, XM_017007286.1:c.986T>C, XM_017007285.2:c.1061T>C, XM_017007285.1:c.1061T>C, NR_033428.1:n.1277T>C, NM_172028.1:c.1103T>C, NP_115937.1:p.Leu251Pro, NP_742024.1:p.Leu393Pro, XP_006713832.1:p.Leu395Pro, XP_016862775.1:p.Leu329Pro, XP_016862774.1:p.Leu354Pro

Select item 14748392156.

rs1474839215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:127677495 (GRCh38)
3:127396338 (GRCh37)
Canonical SPDI:: NC_000003.12:127677494:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.127677495C>T, NC_000003.11:g.127396338C>T, NG_029479.1:g.9558C>T, NM_032548.4:c.367C>T, NM_032548.3:c.367C>T, NM_172027.3:c.793C>T, NM_172027.2:c.793C>T, NR_033429.2:n.832C>T, NR_033429.1:n.846C>T, XM_006713769.4:c.799C>T, XM_006713769.3:c.799C>T, XM_006713769.2:c.799C>T, XM_006713769.1:c.799C>T, XM_017007286.3:c.601C>T, XM_017007286.2:c.601C>T, XM_017007286.1:c.601C>T, XM_017007285.2:c.676C>T, XM_017007285.1:c.676C>T, NR_033428.1:n.892C>T, NM_172028.1:c.718C>T, NP_115937.1:p.Pro123Ser, NP_742024.1:p.Pro265Ser, XP_006713832.1:p.Pro267Ser, XP_016862775.1:p.Pro201Ser, XP_016862774.1:p.Pro226Ser

Select item 14745164287.

rs1474516428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:127680331 (GRCh38)
3:127399174 (GRCh37)
Canonical SPDI:: NC_000003.12:127680330:G:T
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127680331G>T, NC_000003.11:g.127399174G>T, NG_029479.1:g.12394G>T, NM_032548.4:c.867G>T, NM_032548.3:c.867G>T, NM_172027.3:c.1293G>T, NM_172027.2:c.1293G>T, NR_033429.2:n.1332G>T, NR_033429.1:n.1346G>T, XM_006713769.4:c.1299G>T, XM_006713769.3:c.1299G>T, XM_006713769.2:c.1299G>T, XM_006713769.1:c.1299G>T, XM_017007286.3:c.1101G>T, XM_017007286.2:c.1101G>T, XM_017007286.1:c.1101G>T, XM_017007285.2:c.1176G>T, XM_017007285.1:c.1176G>T, NR_033428.1:n.1392G>T, NM_172028.1:c.1218G>T

Select item 14744853138.

rs1474485313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:127677819 (GRCh38)
3:127396662 (GRCh37)
Canonical SPDI:: NC_000003.12:127677818:C:G
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
HGVS:: NC_000003.12:g.127677819C>G, NC_000003.11:g.127396662C>G, NG_029479.1:g.9882C>G, NM_032548.4:c.579C>G, NM_032548.3:c.579C>G, NM_172027.3:c.1005C>G, NM_172027.2:c.1005C>G, NR_033429.2:n.1044C>G, NR_033429.1:n.1058C>G, XM_006713769.4:c.1011C>G, XM_006713769.3:c.1011C>G, XM_006713769.2:c.1011C>G, XM_006713769.1:c.1011C>G, XM_017007286.3:c.813C>G, XM_017007286.2:c.813C>G, XM_017007286.1:c.813C>G, XM_017007285.2:c.888C>G, XM_017007285.1:c.888C>G, NR_033428.1:n.1104C>G, NM_172028.1:c.930C>G, NP_115937.1:p.Tyr193Ter, NP_742024.1:p.Tyr335Ter, XP_006713832.1:p.Tyr337Ter, XP_016862775.1:p.Tyr271Ter, XP_016862774.1:p.Tyr296Ter

Select item 14738478699.

rs1473847869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:127680271 (GRCh38)
3:127399114 (GRCh37)
Canonical SPDI:: NC_000003.12:127680270:G:A
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127680271G>A, NC_000003.11:g.127399114G>A, NG_029479.1:g.12334G>A, NM_032548.4:c.807G>A, NM_032548.3:c.807G>A, NM_172027.3:c.1233G>A, NM_172027.2:c.1233G>A, NR_033429.2:n.1272G>A, NR_033429.1:n.1286G>A, XM_006713769.4:c.1239G>A, XM_006713769.3:c.1239G>A, XM_006713769.2:c.1239G>A, XM_006713769.1:c.1239G>A, XM_017007286.3:c.1041G>A, XM_017007286.2:c.1041G>A, XM_017007286.1:c.1041G>A, XM_017007285.2:c.1116G>A, XM_017007285.1:c.1116G>A, NR_033428.1:n.1332G>A, NM_172028.1:c.1158G>A

Select item 146986053810.

rs1469860538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:127677488 (GRCh38)
3:127396331 (GRCh37)
Canonical SPDI:: NC_000003.12:127677487:C:A,NC_000003.12:127677487:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127677488C>A, NC_000003.12:g.127677488C>T, NC_000003.11:g.127396331C>A, NC_000003.11:g.127396331C>T, NG_029479.1:g.9551C>A, NG_029479.1:g.9551C>T, NM_032548.4:c.360C>A, NM_032548.4:c.360C>T, NM_032548.3:c.360C>A, NM_032548.3:c.360C>T, NM_172027.3:c.786C>A, NM_172027.3:c.786C>T, NM_172027.2:c.786C>A, NM_172027.2:c.786C>T, NR_033429.2:n.825C>A, NR_033429.2:n.825C>T, NR_033429.1:n.839C>A, NR_033429.1:n.839C>T, XM_006713769.4:c.792C>A, XM_006713769.4:c.792C>T, XM_006713769.3:c.792C>A, XM_006713769.3:c.792C>T, XM_006713769.2:c.792C>A, XM_006713769.2:c.792C>T, XM_006713769.1:c.792C>A, XM_006713769.1:c.792C>T, XM_017007286.3:c.594C>A, XM_017007286.3:c.594C>T, XM_017007286.2:c.594C>A, XM_017007286.2:c.594C>T, XM_017007286.1:c.594C>A, XM_017007286.1:c.594C>T, XM_017007285.2:c.669C>A, XM_017007285.2:c.669C>T, XM_017007285.1:c.669C>A, XM_017007285.1:c.669C>T, NR_033428.1:n.885C>A, NR_033428.1:n.885C>T, NM_172028.1:c.711C>A, NM_172028.1:c.711C>T, NP_115937.1:p.Phe120Leu, NP_742024.1:p.Phe262Leu, XP_006713832.1:p.Phe264Leu, XP_016862775.1:p.Phe198Leu, XP_016862774.1:p.Phe223Leu

Select item 146851856311.

rs1468518563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:127677183 (GRCh38)
3:127396026 (GRCh37)
Canonical SPDI:: NC_000003.12:127677182:G:C
Gene:: ABTB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127677183G>C, NC_000003.11:g.127396026G>C, NG_029479.1:g.9246G>C, NM_032548.4:c.233G>C, NM_032548.3:c.233G>C, NM_172027.3:c.659G>C, NM_172027.2:c.659G>C, NR_033429.2:n.698G>C, NR_033429.1:n.712G>C, XM_006713769.4:c.665G>C, XM_006713769.3:c.665G>C, XM_006713769.2:c.665G>C, XM_006713769.1:c.665G>C, XM_017007286.3:c.467G>C, XM_017007286.2:c.467G>C, XM_017007286.1:c.467G>C, XM_017007285.2:c.542G>C, XM_017007285.1:c.542G>C, NR_033428.1:n.758G>C, NM_172028.1:c.584G>C, NP_115937.1:p.Gly78Ala, NP_742024.1:p.Gly220Ala, XP_006713832.1:p.Gly222Ala, XP_016862775.1:p.Gly156Ala, XP_016862774.1:p.Gly181Ala

Select item 146262450112.

rs1462624501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:127677242 (GRCh38)
3:127396085 (GRCh37)
Canonical SPDI:: NC_000003.12:127677241:G:T
Gene:: ABTB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.127677242G>T, NC_000003.11:g.127396085G>T, NG_029479.1:g.9305G>T, NM_032548.4:c.292G>T, NM_032548.3:c.292G>T, NM_172027.3:c.718G>T, NM_172027.2:c.718G>T, NR_033429.2:n.757G>T, NR_033429.1:n.771G>T, XM_006713769.4:c.724G>T, XM_006713769.3:c.724G>T, XM_006713769.2:c.724G>T, XM_006713769.1:c.724G>T, XM_017007286.3:c.526G>T, XM_017007286.2:c.526G>T, XM_017007286.1:c.526G>T, XM_017007285.2:c.601G>T, XM_017007285.1:c.601G>T, NR_033428.1:n.817G>T, NM_172028.1:c.643G>T, NP_115937.1:p.Asp98Tyr, NP_742024.1:p.Asp240Tyr, XP_006713832.1:p.Asp242Tyr, XP_016862775.1:p.Asp176Tyr, XP_016862774.1:p.Asp201Tyr

Select item 146221534813.

rs1462215348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:127680370 (GRCh38)
3:127399213 (GRCh37)
Canonical SPDI:: NC_000003.12:127680369:C:A,NC_000003.12:127680369:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.127680370C>A, NC_000003.12:g.127680370C>T, NC_000003.11:g.127399213C>A, NC_000003.11:g.127399213C>T, NG_029479.1:g.12433C>A, NG_029479.1:g.12433C>T, NM_032548.4:c.906C>A, NM_032548.4:c.906C>T, NM_032548.3:c.906C>A, NM_032548.3:c.906C>T, NM_172027.3:c.1332C>A, NM_172027.3:c.1332C>T, NM_172027.2:c.1332C>A, NM_172027.2:c.1332C>T, NR_033429.2:n.1371C>A, NR_033429.2:n.1371C>T, NR_033429.1:n.1385C>A, NR_033429.1:n.1385C>T, XM_006713769.4:c.1338C>A, XM_006713769.4:c.1338C>T, XM_006713769.3:c.1338C>A, XM_006713769.3:c.1338C>T, XM_006713769.2:c.1338C>A, XM_006713769.2:c.1338C>T, XM_006713769.1:c.1338C>A, XM_006713769.1:c.1338C>T, XM_017007286.3:c.1140C>A, XM_017007286.3:c.1140C>T, XM_017007286.2:c.1140C>A, XM_017007286.2:c.1140C>T, XM_017007286.1:c.1140C>A, XM_017007286.1:c.1140C>T, XM_017007285.2:c.1215C>A, XM_017007285.2:c.1215C>T, XM_017007285.1:c.1215C>A, XM_017007285.1:c.1215C>T, NR_033428.1:n.1431C>A, NR_033428.1:n.1431C>T, NM_172028.1:c.1257C>A, NM_172028.1:c.1257C>T

Select item 145441256414.

rs1454412564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:127677764 (GRCh38)
3:127396607 (GRCh37)
Canonical SPDI:: NC_000003.12:127677763:C:G
Gene:: ABTB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.127677764C>G, NC_000003.11:g.127396607C>G, NG_029479.1:g.9827C>G, NM_032548.4:c.524C>G, NM_032548.3:c.524C>G, NM_172027.3:c.950C>G, NM_172027.2:c.950C>G, NR_033429.2:n.989C>G, NR_033429.1:n.1003C>G, XM_006713769.4:c.956C>G, XM_006713769.3:c.956C>G, XM_006713769.2:c.956C>G, XM_006713769.1:c.956C>G, XM_017007286.3:c.758C>G, XM_017007286.2:c.758C>G, XM_017007286.1:c.758C>G, XM_017007285.2:c.833C>G, XM_017007285.1:c.833C>G, NR_033428.1:n.1049C>G, NM_172028.1:c.875C>G, NP_115937.1:p.Pro175Arg, NP_742024.1:p.Pro317Arg, XP_006713832.1:p.Pro319Arg, XP_016862775.1:p.Pro253Arg, XP_016862774.1:p.Pro278Arg

Select item 145330935915.

rs1453309359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:127677711 (GRCh38)
3:127396554 (GRCh37)
Canonical SPDI:: NC_000003.12:127677710:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127677711C>T, NC_000003.11:g.127396554C>T, NG_029479.1:g.9774C>T, NM_032548.4:c.471C>T, NM_032548.3:c.471C>T, NM_172027.3:c.897C>T, NM_172027.2:c.897C>T, NR_033429.2:n.936C>T, NR_033429.1:n.950C>T, XM_006713769.4:c.903C>T, XM_006713769.3:c.903C>T, XM_006713769.2:c.903C>T, XM_006713769.1:c.903C>T, XM_017007286.3:c.705C>T, XM_017007286.2:c.705C>T, XM_017007286.1:c.705C>T, XM_017007285.2:c.780C>T, XM_017007285.1:c.780C>T, NR_033428.1:n.996C>T, NM_172028.1:c.822C>T

Select item 145235037816.

rs1452350378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:127677837 (GRCh38)
3:127396680 (GRCh37)
Canonical SPDI:: NC_000003.12:127677836:C:G,NC_000003.12:127677836:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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)
HGVS:: NC_000003.12:g.127677837C>G, NC_000003.12:g.127677837C>T, NC_000003.11:g.127396680C>G, NC_000003.11:g.127396680C>T, NG_029479.1:g.9900C>G, NG_029479.1:g.9900C>T, NM_032548.4:c.597C>G, NM_032548.4:c.597C>T, NM_032548.3:c.597C>G, NM_032548.3:c.597C>T, NM_172027.3:c.1023C>G, NM_172027.3:c.1023C>T, NM_172027.2:c.1023C>G, NM_172027.2:c.1023C>T, NR_033429.2:n.1062C>G, NR_033429.2:n.1062C>T, NR_033429.1:n.1076C>G, NR_033429.1:n.1076C>T, XM_006713769.4:c.1029C>G, XM_006713769.4:c.1029C>T, XM_006713769.3:c.1029C>G, XM_006713769.3:c.1029C>T, XM_006713769.2:c.1029C>G, XM_006713769.2:c.1029C>T, XM_006713769.1:c.1029C>G, XM_006713769.1:c.1029C>T, XM_017007286.3:c.831C>G, XM_017007286.3:c.831C>T, XM_017007286.2:c.831C>G, XM_017007286.2:c.831C>T, XM_017007286.1:c.831C>G, XM_017007286.1:c.831C>T, XM_017007285.2:c.906C>G, XM_017007285.2:c.906C>T, XM_017007285.1:c.906C>G, XM_017007285.1:c.906C>T, NR_033428.1:n.1122C>G, NR_033428.1:n.1122C>T, NM_172028.1:c.948C>G, NM_172028.1:c.948C>T, NP_115937.1:p.His199Gln, NP_742024.1:p.His341Gln, XP_006713832.1:p.His343Gln, XP_016862775.1:p.His277Gln, XP_016862774.1:p.His302Gln

Select item 145216521217.

rs1452165212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:127680068 (GRCh38)
3:127398911 (GRCh37)
Canonical SPDI:: NC_000003.12:127680067:C:G
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.127680068C>G, NC_000003.11:g.127398911C>G, NG_029479.1:g.12131C>G, NM_032548.4:c.687C>G, NM_032548.3:c.687C>G, NM_172027.3:c.1113C>G, NM_172027.2:c.1113C>G, NR_033429.2:n.1152C>G, NR_033429.1:n.1166C>G, XM_006713769.4:c.1119C>G, XM_006713769.3:c.1119C>G, XM_006713769.2:c.1119C>G, XM_006713769.1:c.1119C>G, XM_017007286.3:c.921C>G, XM_017007286.2:c.921C>G, XM_017007286.1:c.921C>G, XM_017007285.2:c.996C>G, XM_017007285.1:c.996C>G, NR_033428.1:n.1212C>G, NM_172028.1:c.1038C>G, NP_115937.1:p.Ser229Arg, NP_742024.1:p.Ser371Arg, XP_006713832.1:p.Ser373Arg, XP_016862775.1:p.Ser307Arg, XP_016862774.1:p.Ser332Arg

Select item 145096385218.

rs1450963852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:127677682 (GRCh38)
3:127396525 (GRCh37)
Canonical SPDI:: NC_000003.12:127677681:T:A
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.127677682T>A, NC_000003.11:g.127396525T>A, NG_029479.1:g.9745T>A, NM_032548.4:c.442T>A, NM_032548.3:c.442T>A, NM_172027.3:c.868T>A, NM_172027.2:c.868T>A, NR_033429.2:n.907T>A, NR_033429.1:n.921T>A, XM_006713769.4:c.874T>A, XM_006713769.3:c.874T>A, XM_006713769.2:c.874T>A, XM_006713769.1:c.874T>A, XM_017007286.3:c.676T>A, XM_017007286.2:c.676T>A, XM_017007286.1:c.676T>A, XM_017007285.2:c.751T>A, XM_017007285.1:c.751T>A, NR_033428.1:n.967T>A, NM_172028.1:c.793T>A, NP_115937.1:p.Phe148Ile, NP_742024.1:p.Phe290Ile, XP_006713832.1:p.Phe292Ile, XP_016862775.1:p.Phe226Ile, XP_016862774.1:p.Phe251Ile

Select item 144514299819.

rs1445142998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:127677702 (GRCh38)
3:127396545 (GRCh37)
Canonical SPDI:: NC_000003.12:127677701:C:T
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.127677702C>T, NC_000003.11:g.127396545C>T, NG_029479.1:g.9765C>T, NM_032548.4:c.462C>T, NM_032548.3:c.462C>T, NM_172027.3:c.888C>T, NM_172027.2:c.888C>T, NR_033429.2:n.927C>T, NR_033429.1:n.941C>T, XM_006713769.4:c.894C>T, XM_006713769.3:c.894C>T, XM_006713769.2:c.894C>T, XM_006713769.1:c.894C>T, XM_017007286.3:c.696C>T, XM_017007286.2:c.696C>T, XM_017007286.1:c.696C>T, XM_017007285.2:c.771C>T, XM_017007285.1:c.771C>T, NR_033428.1:n.987C>T, NM_172028.1:c.813C>T

Select item 144398164220.

rs1443981642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:127676568 (GRCh38)
3:127395411 (GRCh37)
Canonical SPDI:: NC_000003.12:127676567:G:C
Gene:: ABTB1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.127676568G>C, NC_000003.11:g.127395411G>C, NG_029479.1:g.8631G>C, NM_032548.4:c.87G>C, NM_032548.3:c.87G>C, NM_172027.3:c.513G>C, NM_172027.2:c.513G>C, NR_033429.2:n.552G>C, NR_033429.1:n.566G>C, XM_006713769.4:c.519G>C, XM_006713769.3:c.519G>C, XM_006713769.2:c.519G>C, XM_006713769.1:c.519G>C, XM_017007286.3:c.438G>C, XM_017007286.2:c.438G>C, XM_017007286.1:c.438G>C, XM_017007285.2:c.513G>C, XM_017007285.1:c.513G>C, NR_033428.1:n.612G>C, NM_172028.1:c.438G>C, NP_115937.1:p.Gln29His, NP_742024.1:p.Gln171His, XP_006713832.1:p.Gln173His, XP_016862775.1:p.Gln146His, XP_016862774.1:p.Gln171His

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 412

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 412

Page of 21

Page of 21

Display Settings:

Supplemental Content

Find related data

Recent activity