SNP Links for Protein (Select 223890199) - SNP

Links from Protein

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Select item 14875907431.

rs1487590743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33315362 (GRCh38)
6:33283139 (GRCh37)
Canonical SPDI:: NC_000006.12:33315361:T:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33315362T>C, NC_000006.11:g.33283139T>C, NG_009876.1:g.3851A>G, NG_078070.1:g.91T>C, NT_113891.3:g.4726845T>C, NT_113891.2:g.4726951T>C, NT_167247.2:g.4751296T>C, NT_167247.1:g.4756881T>C, NT_167248.2:g.4509789T>C, NT_167248.1:g.4515385T>C, NT_167245.2:g.4558877T>C, NT_167245.1:g.4564462T>C, NM_005453.5:c.1555A>G, NM_005453.4:c.1555A>G, NM_001145338.2:c.1555A>G, NM_001145338.1:c.1555A>G, NP_005444.4:p.Asn519Asp, NP_001138810.1:p.Asn519Asp

Select item 14850745492.

rs1485074549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33316072 (GRCh38)
6:33283849 (GRCh37)
Canonical SPDI:: NC_000006.12:33316071:C:T
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000187/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.33316072C>T, NC_000006.11:g.33283849C>T, NG_009876.1:g.3141G>A, NT_113891.3:g.4727555C>T, NT_113891.2:g.4727661C>T, NT_167247.2:g.4752006C>T, NT_167247.1:g.4757591C>T, NT_167248.2:g.4510499C>T, NT_167248.1:g.4516095C>T, NT_167245.2:g.4559587C>T, NT_167245.1:g.4565172C>T, NM_005453.5:c.845G>A, NM_005453.4:c.845G>A, NM_001145338.2:c.845G>A, NM_001145338.1:c.845G>A, NP_005444.4:p.Arg282Gln, NP_001138810.1:p.Arg282Gln

Select item 14847319753.

rs1484731975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33315427 (GRCh38)
6:33283204 (GRCh37)
Canonical SPDI:: NC_000006.12:33315426:T:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000006.12:g.33315427T>C, NC_000006.11:g.33283204T>C, NG_009876.1:g.3786A>G, NG_078070.1:g.156T>C, NT_113891.3:g.4726910T>C, NT_113891.2:g.4727016T>C, NT_167247.2:g.4751361T>C, NT_167247.1:g.4756946T>C, NT_167248.2:g.4509854T>C, NT_167248.1:g.4515450T>C, NT_167245.2:g.4558942T>C, NT_167245.1:g.4564527T>C, NM_005453.5:c.1490A>G, NM_005453.4:c.1490A>G, NM_001145338.2:c.1490A>G, NM_001145338.1:c.1490A>G, NP_005444.4:p.Lys497Arg, NP_001138810.1:p.Lys497Arg

Select item 14830745514.

rs1483074551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:33315560 (GRCh38)
6:33283337 (GRCh37)
Canonical SPDI:: NC_000006.12:33315559:C:A,NC_000006.12:33315559:C:T
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33315560C>A, NC_000006.12:g.33315560C>T, NC_000006.11:g.33283337C>A, NC_000006.11:g.33283337C>T, NG_009876.1:g.3653G>T, NG_009876.1:g.3653G>A, NG_078070.1:g.289C>A, NG_078070.1:g.289C>T, NT_113891.3:g.4727043C>A, NT_113891.3:g.4727043C>T, NT_113891.2:g.4727149C>A, NT_113891.2:g.4727149C>T, NT_167247.2:g.4751494C>A, NT_167247.2:g.4751494C>T, NT_167247.1:g.4757079C>A, NT_167247.1:g.4757079C>T, NT_167248.2:g.4509987C>A, NT_167248.2:g.4509987C>T, NT_167248.1:g.4515583C>A, NT_167248.1:g.4515583C>T, NT_167245.2:g.4559075C>A, NT_167245.2:g.4559075C>T, NT_167245.1:g.4564660C>A, NT_167245.1:g.4564660C>T, NM_005453.5:c.1357G>T, NM_005453.5:c.1357G>A, NM_005453.4:c.1357G>T, NM_005453.4:c.1357G>A, NM_001145338.2:c.1357G>T, NM_001145338.2:c.1357G>A, NM_001145338.1:c.1357G>T, NM_001145338.1:c.1357G>A, NP_005444.4:p.Ala453Ser, NP_005444.4:p.Ala453Thr, NP_001138810.1:p.Ala453Ser, NP_001138810.1:p.Ala453Thr

Select item 14799869335.

rs1479986933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33316345 (GRCh38)
6:33284122 (GRCh37)
Canonical SPDI:: NC_000006.12:33316344:G:T
Gene:: ZBTB22 (Varview)
Functional Consequence:: coding_sequence_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_000006.12:g.33316345G>T, NC_000006.11:g.33284122G>T, NG_009876.1:g.2868C>A, NT_113891.3:g.4727828G>T, NT_113891.2:g.4727934G>T, NT_167247.2:g.4752279G>T, NT_167247.1:g.4757864G>T, NT_167248.2:g.4510772G>T, NT_167248.1:g.4516368G>T, NT_167245.2:g.4559860G>T, NT_167245.1:g.4565445G>T, NM_005453.5:c.572C>A, NM_005453.4:c.572C>A, NM_001145338.2:c.572C>A, NM_001145338.1:c.572C>A, NP_005444.4:p.Ser191Tyr, NP_001138810.1:p.Ser191Tyr

Select item 14770207666.

rs1477020766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:33315201 (GRCh38)
6:33282978 (GRCh37)
Canonical SPDI:: NC_000006.12:33315200:G:A,NC_000006.12:33315200:G:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33315201G>A, NC_000006.12:g.33315201G>C, NC_000006.11:g.33282978G>A, NC_000006.11:g.33282978G>C, NG_009876.1:g.4012C>T, NG_009876.1:g.4012C>G, NT_113891.3:g.4726684G>A, NT_113891.3:g.4726684G>C, NT_113891.2:g.4726790G>A, NT_113891.2:g.4726790G>C, NT_167247.2:g.4751135G>A, NT_167247.2:g.4751135G>C, NT_167247.1:g.4756720G>A, NT_167247.1:g.4756720G>C, NT_167248.2:g.4509628G>A, NT_167248.2:g.4509628G>C, NT_167248.1:g.4515224G>A, NT_167248.1:g.4515224G>C, NT_167245.2:g.4558716G>A, NT_167245.2:g.4558716G>C, NT_167245.1:g.4564301G>A, NT_167245.1:g.4564301G>C, NM_005453.5:c.1716C>T, NM_005453.5:c.1716C>G, NM_005453.4:c.1716C>T, NM_005453.4:c.1716C>G, NM_001145338.2:c.1716C>T, NM_001145338.2:c.1716C>G, NM_001145338.1:c.1716C>T, NM_001145338.1:c.1716C>G

Select item 14766676567.

rs1476667656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33315532 (GRCh38)
6:33283309 (GRCh37)
Canonical SPDI:: NC_000006.12:33315531:C:T
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000055/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.33315532C>T, NC_000006.11:g.33283309C>T, NG_009876.1:g.3681G>A, NG_078070.1:g.261C>T, NT_113891.3:g.4727015C>T, NT_113891.2:g.4727121C>T, NT_167247.2:g.4751466C>T, NT_167247.1:g.4757051C>T, NT_167248.2:g.4509959C>T, NT_167248.1:g.4515555C>T, NT_167245.2:g.4559047C>T, NT_167245.1:g.4564632C>T, NM_005453.5:c.1385G>A, NM_005453.4:c.1385G>A, NM_001145338.2:c.1385G>A, NM_001145338.1:c.1385G>A, NP_005444.4:p.Gly462Glu, NP_001138810.1:p.Gly462Glu

Select item 14759543288.

rs1475954328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33315055 (GRCh38)
6:33282832 (GRCh37)
Canonical SPDI:: NC_000006.12:33315054:T:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_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_000006.12:g.33315055T>C, NC_000006.11:g.33282832T>C, NG_009876.1:g.4158A>G, NT_113891.3:g.4726538T>C, NT_113891.2:g.4726644T>C, NT_167247.2:g.4750989T>C, NT_167247.1:g.4756574T>C, NT_167248.2:g.4509482T>C, NT_167248.1:g.4515078T>C, NT_167245.2:g.4558570T>C, NT_167245.1:g.4564155T>C, NM_005453.5:c.1862A>G, NM_005453.4:c.1862A>G, NM_001145338.2:c.1862A>G, NM_001145338.1:c.1862A>G, NP_005444.4:p.His621Arg, NP_001138810.1:p.His621Arg

Select item 14753667279.

rs1475366727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33316027 (GRCh38)
6:33283804 (GRCh37)
Canonical SPDI:: NC_000006.12:33316026:C:G
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33316027C>G, NC_000006.11:g.33283804C>G, NG_009876.1:g.3186G>C, NT_113891.3:g.4727510C>G, NT_113891.2:g.4727616C>G, NT_167247.2:g.4751961C>G, NT_167247.1:g.4757546C>G, NT_167248.2:g.4510454C>G, NT_167248.1:g.4516050C>G, NT_167245.2:g.4559542C>G, NT_167245.1:g.4565127C>G, NM_005453.5:c.890G>C, NM_005453.4:c.890G>C, NM_001145338.2:c.890G>C, NM_001145338.1:c.890G>C, NP_005444.4:p.Trp297Ser, NP_001138810.1:p.Trp297Ser

Select item 147519739310.

rs1475197393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33315683 (GRCh38)
6:33283460 (GRCh37)
Canonical SPDI:: NC_000006.12:33315682:G:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33315683G>C, NC_000006.11:g.33283460G>C, NG_009876.1:g.3530C>G, NG_078070.1:g.412G>C, NT_113891.3:g.4727166G>C, NT_113891.2:g.4727272G>C, NT_167247.2:g.4751617G>C, NT_167247.1:g.4757202G>C, NT_167248.2:g.4510110G>C, NT_167248.1:g.4515706G>C, NT_167245.2:g.4559198G>C, NT_167245.1:g.4564783G>C, NM_005453.5:c.1234C>G, NM_005453.4:c.1234C>G, NM_001145338.2:c.1234C>G, NM_001145338.1:c.1234C>G, NP_005444.4:p.Pro412Ala, NP_001138810.1:p.Pro412Ala

Select item 147349650811.

rs1473496508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33315165 (GRCh38)
6:33282942 (GRCh37)
Canonical SPDI:: NC_000006.12:33315164:T:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33315165T>C, NC_000006.11:g.33282942T>C, NG_009876.1:g.4048A>G, NT_113891.3:g.4726648T>C, NT_113891.2:g.4726754T>C, NT_167247.2:g.4751099T>C, NT_167247.1:g.4756684T>C, NT_167248.2:g.4509592T>C, NT_167248.1:g.4515188T>C, NT_167245.2:g.4558680T>C, NT_167245.1:g.4564265T>C, NM_005453.5:c.1752A>G, NM_005453.4:c.1752A>G, NM_001145338.2:c.1752A>G, NM_001145338.1:c.1752A>G

Select item 147341141712.

rs1473411417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33316273 (GRCh38)
6:33284050 (GRCh37)
Canonical SPDI:: NC_000006.12:33316272:G:A
Gene:: ZBTB22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33316273G>A, NC_000006.11:g.33284050G>A, NG_009876.1:g.2940C>T, NT_113891.3:g.4727756G>A, NT_113891.2:g.4727862G>A, NT_167247.2:g.4752207G>A, NT_167247.1:g.4757792G>A, NT_167248.2:g.4510700G>A, NT_167248.1:g.4516296G>A, NT_167245.2:g.4559788G>A, NT_167245.1:g.4565373G>A, NM_005453.5:c.644C>T, NM_005453.4:c.644C>T, NM_001145338.2:c.644C>T, NM_001145338.1:c.644C>T, NP_005444.4:p.Thr215Ile, NP_001138810.1:p.Thr215Ile

Select item 147068450313.

rs1470684503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33316647 (GRCh38)
6:33284424 (GRCh37)
Canonical SPDI:: NC_000006.12:33316646:G:A
Gene:: ZBTB22 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000071/1 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.33316647G>A, NC_000006.11:g.33284424G>A, NG_009876.1:g.2566C>T, NT_113891.3:g.4728130G>A, NT_113891.2:g.4728236G>A, NT_167247.2:g.4752581G>A, NT_167247.1:g.4758166G>A, NT_167248.2:g.4511074G>A, NT_167248.1:g.4516670G>A, NT_167245.2:g.4560162G>A, NT_167245.1:g.4565747G>A, NM_005453.5:c.270C>T, NM_005453.4:c.270C>T, NM_001145338.2:c.270C>T, NM_001145338.1:c.270C>T

Select item 146997056814.

rs1469970568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33315107 (GRCh38)
6:33282884 (GRCh37)
Canonical SPDI:: NC_000006.12:33315106:T:G
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33315107T>G, NC_000006.11:g.33282884T>G, NG_009876.1:g.4106A>C, NT_113891.3:g.4726590T>G, NT_113891.2:g.4726696T>G, NT_167247.2:g.4751041T>G, NT_167247.1:g.4756626T>G, NT_167248.2:g.4509534T>G, NT_167248.1:g.4515130T>G, NT_167245.2:g.4558622T>G, NT_167245.1:g.4564207T>G, NM_005453.5:c.1810A>C, NM_005453.4:c.1810A>C, NM_001145338.2:c.1810A>C, NM_001145338.1:c.1810A>C, NP_005444.4:p.Ser604Arg, NP_001138810.1:p.Ser604Arg

Select item 146917993715.

rs1469179937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33315218 (GRCh38)
6:33282995 (GRCh37)
Canonical SPDI:: NC_000006.12:33315217:G:C
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33315218G>C, NC_000006.11:g.33282995G>C, NG_009876.1:g.3995C>G, NT_113891.3:g.4726701G>C, NT_113891.2:g.4726807G>C, NT_167247.2:g.4751152G>C, NT_167247.1:g.4756737G>C, NT_167248.2:g.4509645G>C, NT_167248.1:g.4515241G>C, NT_167245.2:g.4558733G>C, NT_167245.1:g.4564318G>C, NM_005453.5:c.1699C>G, NM_005453.4:c.1699C>G, NM_001145338.2:c.1699C>G, NM_001145338.1:c.1699C>G, NP_005444.4:p.His567Asp, NP_001138810.1:p.His567Asp

Select item 146773076616.

rs1467730766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33315506 (GRCh38)
6:33283283 (GRCh37)
Canonical SPDI:: NC_000006.12:33315505:C:T
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33315506C>T, NC_000006.11:g.33283283C>T, NG_009876.1:g.3707G>A, NG_078070.1:g.235C>T, NT_113891.3:g.4726989C>T, NT_113891.2:g.4727095C>T, NT_167247.2:g.4751440C>T, NT_167247.1:g.4757025C>T, NT_167248.2:g.4509933C>T, NT_167248.1:g.4515529C>T, NT_167245.2:g.4559021C>T, NT_167245.1:g.4564606C>T, NM_005453.5:c.1411G>A, NM_005453.4:c.1411G>A, NM_001145338.2:c.1411G>A, NM_001145338.1:c.1411G>A, NP_005444.4:p.Gly471Ser, NP_001138810.1:p.Gly471Ser

Select item 146505081717.

rs1465050817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33315283 (GRCh38)
6:33283060 (GRCh37)
Canonical SPDI:: NC_000006.12:33315282:A:T
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33315283A>T, NC_000006.11:g.33283060A>T, NG_009876.1:g.3930T>A, NG_078070.1:g.12A>T, NT_113891.3:g.4726766A>T, NT_113891.2:g.4726872A>T, NT_167247.2:g.4751217A>T, NT_167247.1:g.4756802A>T, NT_167248.2:g.4509710A>T, NT_167248.1:g.4515306A>T, NT_167245.2:g.4558798A>T, NT_167245.1:g.4564383A>T, NM_005453.5:c.1634T>A, NM_005453.4:c.1634T>A, NM_001145338.2:c.1634T>A, NM_001145338.1:c.1634T>A, NP_005444.4:p.Val545Asp, NP_001138810.1:p.Val545Asp

Select item 146467810118.

rs1464678101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 6:33315906 (GRCh38)
6:33283683 (GRCh37)
Canonical SPDI:: NC_000006.12:33315903:TCATC:TC
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33315906_33315908del, NC_000006.11:g.33283683_33283685del, NG_009876.1:g.3307_3309del, NT_113891.3:g.4727389_4727391del, NT_113891.2:g.4727495_4727497del, NT_167247.2:g.4751840_4751842del, NT_167247.1:g.4757425_4757427del, NT_167248.2:g.4510333_4510335del, NT_167248.1:g.4515929_4515931del, NT_167245.2:g.4559421_4559423del, NT_167245.1:g.4565006_4565008del, NM_005453.5:c.1011_1013del, NM_005453.4:c.1011_1013del, NM_001145338.2:c.1011_1013del, NM_001145338.1:c.1011_1013del, NP_005444.4:p.Asp337del, NP_001138810.1:p.Asp337del

Select item 146267227419.

rs1462672274 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 6:33315150 (GRCh38)
6:33282927 (GRCh37)
Canonical SPDI:: NC_000006.12:33315143:CTCTCTCT:CTCTCT,NC_000006.12:33315143:CTCTCTCT:CTCTCTCTCT
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.00008/1 (GoESP)
HGVS:: NC_000006.12:g.33315144CT[3], NC_000006.12:g.33315144CT[5], NC_000006.11:g.33282921CT[3], NC_000006.11:g.33282921CT[5], NG_009876.1:g.4062AG[3], NG_009876.1:g.4062AG[5], NT_113891.3:g.4726627CT[3], NT_113891.3:g.4726627CT[5], NT_113891.2:g.4726733CT[3], NT_113891.2:g.4726733CT[5], NT_167247.2:g.4751078CT[3], NT_167247.2:g.4751078CT[5], NT_167247.1:g.4756663CT[3], NT_167247.1:g.4756663CT[5], NT_167248.2:g.4509571CT[3], NT_167248.2:g.4509571CT[5], NT_167248.1:g.4515167CT[3], NT_167248.1:g.4515167CT[5], NT_167245.2:g.4558659CT[3], NT_167245.2:g.4558659CT[5], NT_167245.1:g.4564244CT[3], NT_167245.1:g.4564244CT[5], NM_005453.5:c.1772_1773del, NM_005453.5:c.1772_1773dup, NM_005453.4:c.1772_1773del, NM_005453.4:c.1772_1773dup, NM_001145338.2:c.1772_1773del, NM_001145338.2:c.1772_1773dup, NM_001145338.1:c.1772_1773del, NM_001145338.1:c.1772_1773dup, NP_005444.4:p.Glu591fs, NP_005444.4:p.Pro593fs, NP_001138810.1:p.Glu591fs, NP_001138810.1:p.Pro593fs

Select item 146222680320.

rs1462226803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33315207 (GRCh38)
6:33282984 (GRCh37)
Canonical SPDI:: NC_000006.12:33315206:G:A
Gene:: TAPBP (Varview), ZBTB22 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33315207G>A, NC_000006.11:g.33282984G>A, NG_009876.1:g.4006C>T, NT_113891.3:g.4726690G>A, NT_113891.2:g.4726796G>A, NT_167247.2:g.4751141G>A, NT_167247.1:g.4756726G>A, NT_167248.2:g.4509634G>A, NT_167248.1:g.4515230G>A, NT_167245.2:g.4558722G>A, NT_167245.1:g.4564307G>A, NM_005453.5:c.1710C>T, NM_005453.4:c.1710C>T, NM_001145338.2:c.1710C>T, NM_001145338.1:c.1710C>T

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