SNP Links for Nucleotide (Select 319996597) - SNP

Links from Nucleotide

Items: 1 to 20 of 510

<< First< Prev

Page of 26

Next >Last >>

Select item 14913544411.

rs1491354441 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:222558664 (GRCh38)
1:222732006 (GRCh37)
Canonical SPDI:: NC_000001.11:222558661:AGAG:AG
Gene:: TAF1A (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,terminator_codon_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000005/1 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.222558662AG[1], NC_000001.10:g.222732004AG[1], NM_005681.4:c.1350_1351del, NM_005681.3:c.1350_1351del, XM_006711612.2:c.1236_1237del, XM_006711612.1:c.1236_1237del, NM_139352.2:c.1008_1009del, XR_007064851.1:n.1557CT[1], XR_007064852.1:n.1443CT[1], NM_001201536.1:c.1350_1351del, XM_047433593.1:c.1008_1009del, XM_047433596.1:c.1008_1009del, NP_005672.1:p.Ter451IleextTer?, XP_006711675.1:p.Ter413IleextTer?, NP_647603.1:p.Ter337IleextTer?, NP_001188465.1:p.Ter451IleextTer?, XP_047289549.1:p.Ter337IleextTer?, XP_047289552.1:p.Ter337IleextTer?

Select item 14907951592.

rs1490795159 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:222558191 (GRCh38)
1:222731534 (GRCh37)
Canonical SPDI:: NC_000001.11:222558191:TTTTTT:TTTTTTT
Gene:: TAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.222558197dup, NC_000001.10:g.222731539dup, NM_139352.2:c.*114dup, XR_007064851.1:n.1676dup, XR_007064852.1:n.1562dup, NM_001201536.1:c.*114dup

Select item 14907028143.

rs1490702814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:222588511 (GRCh38)
1:222761853 (GRCh37)
Canonical SPDI:: NC_000001.11:222588510:A:C
Gene:: TAF1A (Varview), TAF1A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.222588511A>C, NC_000001.10:g.222761853A>C, XM_005273343.5:c.53T>G, XM_005273343.4:c.53T>G, XM_005273343.3:c.53T>G, XM_005273343.2:c.53T>G, XM_005273343.1:c.53T>G, NM_005681.4:c.53T>G, NM_005681.3:c.53T>G, XM_006711612.2:c.53T>G, XM_006711612.1:c.53T>G, NM_139352.2:c.-120T>G, XM_047433601.1:c.53T>G, XR_007064851.1:n.262T>G, XR_007064852.1:n.262T>G, NM_001201536.1:c.53T>G, XM_047433596.1:c.-120T>G, XM_047433599.1:c.53T>G, XP_005273400.1:p.Val18Gly, NP_005672.1:p.Val18Gly, XP_006711675.1:p.Val18Gly, XP_047289557.1:p.Val18Gly, NP_001188465.1:p.Val18Gly, XP_047289555.1:p.Val18Gly

Select item 14902443874.

rs1490244387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:222561470 (GRCh38)
1:222734812 (GRCh37)
Canonical SPDI:: NC_000001.11:222561469:C:T
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_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_000001.11:g.222561470C>T, NC_000001.10:g.222734812C>T, NM_005681.4:c.1134G>A, NM_005681.3:c.1134G>A, XM_006711612.2:c.1020G>A, XM_006711612.1:c.1020G>A, NM_139352.2:c.792G>A, XR_007064851.1:n.1343G>A, XR_007064852.1:n.1229G>A, NM_001201536.1:c.1134G>A, XM_047433593.1:c.792G>A, XM_047433596.1:c.792G>A, NP_005672.1:p.Trp378Ter, XP_006711675.1:p.Trp340Ter, NP_647603.1:p.Trp264Ter, NP_001188465.1:p.Trp378Ter, XP_047289549.1:p.Trp264Ter, XP_047289552.1:p.Trp264Ter

Select item 14899345495.

rs1489934549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:222561365 (GRCh38)
1:222734707 (GRCh37)
Canonical SPDI:: NC_000001.11:222561364:T:G
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222561365T>G, NC_000001.10:g.222734707T>G, NM_005681.4:c.1239A>C, NM_005681.3:c.1239A>C, XM_006711612.2:c.1125A>C, XM_006711612.1:c.1125A>C, NM_139352.2:c.897A>C, XR_007064851.1:n.1448A>C, XR_007064852.1:n.1334A>C, NM_001201536.1:c.1239A>C, XM_047433593.1:c.897A>C, XM_047433596.1:c.897A>C, NP_005672.1:p.Lys413Asn, XP_006711675.1:p.Lys375Asn, NP_647603.1:p.Lys299Asn, NP_001188465.1:p.Lys413Asn, XP_047289549.1:p.Lys299Asn, XP_047289552.1:p.Lys299Asn

Select item 14886910396.

rs1488691039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:222588559 (GRCh38)
1:222761901 (GRCh37)
Canonical SPDI:: NC_000001.11:222588558:C:G,NC_000001.11:222588558:C:T
Gene:: TAF1A (Varview), TAF1A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_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_000001.11:g.222588559C>G, NC_000001.11:g.222588559C>T, NC_000001.10:g.222761901C>G, NC_000001.10:g.222761901C>T, XM_005273343.5:c.5G>C, XM_005273343.5:c.5G>A, XM_005273343.4:c.5G>C, XM_005273343.4:c.5G>A, XM_005273343.3:c.5G>C, XM_005273343.3:c.5G>A, XM_005273343.2:c.5G>C, XM_005273343.2:c.5G>A, XM_005273343.1:c.5G>C, XM_005273343.1:c.5G>A, NM_005681.4:c.5G>C, NM_005681.4:c.5G>A, NM_005681.3:c.5G>C, NM_005681.3:c.5G>A, XM_006711612.2:c.5G>C, XM_006711612.2:c.5G>A, XM_006711612.1:c.5G>C, XM_006711612.1:c.5G>A, NM_139352.2:c.-168G>C, NM_139352.2:c.-168G>A, XM_047433601.1:c.5G>C, XM_047433601.1:c.5G>A, XR_007064851.1:n.214G>C, XR_007064851.1:n.214G>A, XR_007064852.1:n.214G>C, XR_007064852.1:n.214G>A, NM_001201536.1:c.5G>C, NM_001201536.1:c.5G>A, XM_047433599.1:c.5G>C, XM_047433599.1:c.5G>A, XP_005273400.1:p.Ser2Thr, XP_005273400.1:p.Ser2Asn, NP_005672.1:p.Ser2Thr, NP_005672.1:p.Ser2Asn, XP_006711675.1:p.Ser2Thr, XP_006711675.1:p.Ser2Asn, XP_047289557.1:p.Ser2Thr, XP_047289557.1:p.Ser2Asn, NP_001188465.1:p.Ser2Thr, NP_001188465.1:p.Ser2Asn, XP_047289555.1:p.Ser2Thr, XP_047289555.1:p.Ser2Asn

Select item 14867858237.

rs1486785823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:222558112 (GRCh38)
1:222731454 (GRCh37)
Canonical SPDI:: NC_000001.11:222558111:G:A
Gene:: TAF1A (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.222558112G>A, NC_000001.10:g.222731454G>A, NM_139352.2:c.*194C>T, NM_001201536.1:c.*194C>T

Select item 14864701328.

rs1486470132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:222558700 (GRCh38)
1:222732042 (GRCh37)
Canonical SPDI:: NC_000001.11:222558699:C:T
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222558700C>T, NC_000001.10:g.222732042C>T, NM_005681.4:c.1313G>A, NM_005681.3:c.1313G>A, XM_006711612.2:c.1199G>A, XM_006711612.1:c.1199G>A, NM_139352.2:c.971G>A, XR_007064851.1:n.1522G>A, XR_007064852.1:n.1408G>A, NM_001201536.1:c.1313G>A, XM_047433593.1:c.971G>A, XM_047433596.1:c.971G>A, NP_005672.1:p.Arg438Lys, XP_006711675.1:p.Arg400Lys, NP_647603.1:p.Arg324Lys, NP_001188465.1:p.Arg438Lys, XP_047289549.1:p.Arg324Lys, XP_047289552.1:p.Arg324Lys

Select item 14847494739.

rs1484749473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:222589908 (GRCh38)
1:222763250 (GRCh37)
Canonical SPDI:: NC_000001.11:222589907:G:T
Gene:: TAF1A (Varview), TAF1A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.222589908G>T, NC_000001.10:g.222763250G>T, XM_005273343.5:c.-184C>A, XM_005273343.4:c.-184C>A, XM_005273343.3:c.-184C>A, XM_005273343.2:c.-184C>A, XM_005273343.1:c.-184C>A, NM_005681.4:c.-184C>A, NM_005681.3:c.-184C>A, XM_006711612.2:c.-184C>A, XM_006711612.1:c.-184C>A, NM_139352.2:c.-356C>A, XM_047433601.1:c.-184C>A, XR_007064851.1:n.26C>A, XR_007064852.1:n.26C>A, NM_001201536.1:c.-184C>A, XM_047433599.1:c.-184C>A

Select item 148309349910.

rs1483093499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:222577556 (GRCh38)
1:222750898 (GRCh37)
Canonical SPDI:: NC_000001.11:222577555:G:T
Gene:: TAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222577556G>T, NC_000001.10:g.222750898G>T, XM_005273343.5:c.493C>A, XM_005273343.4:c.493C>A, XM_005273343.3:c.493C>A, XM_005273343.2:c.493C>A, XM_005273343.1:c.493C>A, NM_005681.4:c.493C>A, NM_005681.3:c.493C>A, XM_006711612.2:c.379C>A, XM_006711612.1:c.379C>A, NM_139352.2:c.151C>A, XM_047433601.1:c.379C>A, XR_007064851.1:n.702C>A, XR_007064852.1:n.588C>A, NM_001201536.1:c.493C>A, XM_047433593.1:c.151C>A, XM_047433596.1:c.151C>A, XM_047433599.1:c.493C>A, XP_005273400.1:p.His165Asn, NP_005672.1:p.His165Asn, XP_006711675.1:p.His127Asn, NP_647603.1:p.His51Asn, XP_047289557.1:p.His127Asn, NP_001188465.1:p.His165Asn, XP_047289549.1:p.His51Asn, XP_047289552.1:p.His51Asn, XP_047289555.1:p.His165Asn

Select item 148238369711.

rs1482383697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:222558181 (GRCh38)
1:222731523 (GRCh37)
Canonical SPDI:: NC_000001.11:222558180:G:A
Gene:: TAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.222558181G>A, NC_000001.10:g.222731523G>A, NM_139352.2:c.*125C>T, XR_007064851.1:n.1687C>T, XR_007064852.1:n.1573C>T, NM_001201536.1:c.*125C>T

Select item 148139646312.

rs1481396463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:222577618 (GRCh38)
1:222750960 (GRCh37)
Canonical SPDI:: NC_000001.11:222577617:A:C
Gene:: TAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222577618A>C, NC_000001.10:g.222750960A>C, XM_005273343.5:c.431T>G, XM_005273343.4:c.431T>G, XM_005273343.3:c.431T>G, XM_005273343.2:c.431T>G, XM_005273343.1:c.431T>G, NM_005681.4:c.431T>G, NM_005681.3:c.431T>G, XM_006711612.2:c.317T>G, XM_006711612.1:c.317T>G, NM_139352.2:c.89T>G, XM_047433601.1:c.317T>G, XR_007064851.1:n.640T>G, XR_007064852.1:n.526T>G, NM_001201536.1:c.431T>G, XM_047433593.1:c.89T>G, XM_047433596.1:c.89T>G, XM_047433599.1:c.431T>G, XP_005273400.1:p.Leu144Arg, NP_005672.1:p.Leu144Arg, XP_006711675.1:p.Leu106Arg, NP_647603.1:p.Leu30Arg, XP_047289557.1:p.Leu106Arg, NP_001188465.1:p.Leu144Arg, XP_047289549.1:p.Leu30Arg, XP_047289552.1:p.Leu30Arg, XP_047289555.1:p.Leu144Arg

Select item 147913850113.

rs1479138501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:222564115 (GRCh38)
1:222737457 (GRCh37)
Canonical SPDI:: NC_000001.11:222564114:T:C
Gene:: TAF1A (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222564115T>C, NC_000001.10:g.222737457T>C, NM_005681.4:c.905A>G, NM_005681.3:c.905A>G, XM_006711612.2:c.791A>G, XM_006711612.1:c.791A>G, NM_139352.2:c.563A>G, XR_007064851.1:n.1114A>G, XR_007064852.1:n.1000A>G, NM_001201536.1:c.905A>G, XM_047433593.1:c.563A>G, XM_047433596.1:c.563A>G, XM_047433599.1:c.957A>G, NP_005672.1:p.Gln302Arg, XP_006711675.1:p.Gln264Arg, NP_647603.1:p.Gln188Arg, NP_001188465.1:p.Gln302Arg, XP_047289549.1:p.Gln188Arg, XP_047289552.1:p.Gln188Arg

Select item 147825319814.

rs1478253198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:222577591 (GRCh38)
1:222750933 (GRCh37)
Canonical SPDI:: NC_000001.11:222577590:G:A
Gene:: TAF1A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.222577591G>A, NC_000001.10:g.222750933G>A, XM_005273343.5:c.458C>T, XM_005273343.4:c.458C>T, XM_005273343.3:c.458C>T, XM_005273343.2:c.458C>T, XM_005273343.1:c.458C>T, NM_005681.4:c.458C>T, NM_005681.3:c.458C>T, XM_006711612.2:c.344C>T, XM_006711612.1:c.344C>T, NM_139352.2:c.116C>T, XM_047433601.1:c.344C>T, XR_007064851.1:n.667C>T, XR_007064852.1:n.553C>T, NM_001201536.1:c.458C>T, XM_047433593.1:c.116C>T, XM_047433596.1:c.116C>T, XM_047433599.1:c.458C>T, XP_005273400.1:p.Ala153Val, NP_005672.1:p.Ala153Val, XP_006711675.1:p.Ala115Val, NP_647603.1:p.Ala39Val, XP_047289557.1:p.Ala115Val, NP_001188465.1:p.Ala153Val, XP_047289549.1:p.Ala39Val, XP_047289552.1:p.Ala39Val, XP_047289555.1:p.Ala153Val

Select item 147810857815.

rs1478108578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:222588496 (GRCh38)
1:222761838 (GRCh37)
Canonical SPDI:: NC_000001.11:222588495:A:G
Gene:: TAF1A (Varview), TAF1A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000001.11:g.222588496A>G, NC_000001.10:g.222761838A>G, XM_005273343.5:c.68T>C, XM_005273343.4:c.68T>C, XM_005273343.3:c.68T>C, XM_005273343.2:c.68T>C, XM_005273343.1:c.68T>C, NM_005681.4:c.68T>C, NM_005681.3:c.68T>C, XM_006711612.2:c.68T>C, XM_006711612.1:c.68T>C, NM_139352.2:c.-105T>C, XM_047433601.1:c.68T>C, XR_007064851.1:n.277T>C, XR_007064852.1:n.277T>C, NM_001201536.1:c.68T>C, XM_047433596.1:c.-105T>C, XM_047433599.1:c.68T>C, XP_005273400.1:p.Leu23Pro, NP_005672.1:p.Leu23Pro, XP_006711675.1:p.Leu23Pro, XP_047289557.1:p.Leu23Pro, NP_001188465.1:p.Leu23Pro, XP_047289555.1:p.Leu23Pro

Select item 147557174316.

rs1475571743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:222557910 (GRCh38)
1:222731252 (GRCh37)
Canonical SPDI:: NC_000001.11:222557909:G:A
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.222557910G>A, NC_000001.10:g.222731252G>A, NM_139352.2:c.*396C>T, NM_001201536.1:c.*396C>T

Select item 147221084617.

rs1472210846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:222558095 (GRCh38)
1:222731437 (GRCh37)
Canonical SPDI:: NC_000001.11:222558094:G:A,NC_000001.11:222558094:G:C
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.222558095G>A, NC_000001.11:g.222558095G>C, NC_000001.10:g.222731437G>A, NC_000001.10:g.222731437G>C, NM_139352.2:c.*211C>T, NM_139352.2:c.*211C>G, NM_001201536.1:c.*211C>T, NM_001201536.1:c.*211C>G

Select item 147179372418.

rs1471793724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:222558753 (GRCh38)
1:222732095 (GRCh37)
Canonical SPDI:: NC_000001.11:222558752:A:T
Gene:: TAF1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.222558753A>T, NC_000001.10:g.222732095A>T, NM_005681.4:c.1260T>A, NM_005681.3:c.1260T>A, XM_006711612.2:c.1146T>A, XM_006711612.1:c.1146T>A, NM_139352.2:c.918T>A, XR_007064851.1:n.1469T>A, XR_007064852.1:n.1355T>A, NM_001201536.1:c.1260T>A, XM_047433593.1:c.918T>A, XM_047433596.1:c.918T>A, NP_005672.1:p.Tyr420Ter, XP_006711675.1:p.Tyr382Ter, NP_647603.1:p.Tyr306Ter, NP_001188465.1:p.Tyr420Ter, XP_047289549.1:p.Tyr306Ter, XP_047289552.1:p.Tyr306Ter

Select item 147142521119.

rs1471425211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:222570651 (GRCh38)
1:222743993 (GRCh37)
Canonical SPDI:: NC_000001.11:222570650:C:A
Gene:: TAF1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.222570651C>A, NC_000001.10:g.222743993C>A, XM_005273343.5:c.619G>T, XM_005273343.4:c.619G>T, XM_005273343.3:c.619G>T, XM_005273343.2:c.619G>T, XM_005273343.1:c.619G>T, NM_005681.4:c.619G>T, NM_005681.3:c.619G>T, XM_006711612.2:c.505G>T, XM_006711612.1:c.505G>T, NM_139352.2:c.277G>T, XM_047433601.1:c.505G>T, XR_007064851.1:n.828G>T, XR_007064852.1:n.714G>T, NM_001201536.1:c.619G>T, XM_047433593.1:c.277G>T, XM_047433596.1:c.277G>T, XM_047433599.1:c.619G>T, XP_005273400.1:p.Ala207Ser, NP_005672.1:p.Ala207Ser, XP_006711675.1:p.Ala169Ser, NP_647603.1:p.Ala93Ser, XP_047289557.1:p.Ala169Ser, NP_001188465.1:p.Ala207Ser, XP_047289549.1:p.Ala93Ser, XP_047289552.1:p.Ala93Ser, XP_047289555.1:p.Ala207Ser

Select item 147099500720.

rs1470995007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:222570653 (GRCh38)
1:222743995 (GRCh37)
Canonical SPDI:: NC_000001.11:222570652:T:A
Gene:: TAF1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000001.11:g.222570653T>A, NC_000001.10:g.222743995T>A, XM_005273343.5:c.617A>T, XM_005273343.4:c.617A>T, XM_005273343.3:c.617A>T, XM_005273343.2:c.617A>T, XM_005273343.1:c.617A>T, NM_005681.4:c.617A>T, NM_005681.3:c.617A>T, XM_006711612.2:c.503A>T, XM_006711612.1:c.503A>T, NM_139352.2:c.275A>T, XM_047433601.1:c.503A>T, XR_007064851.1:n.826A>T, XR_007064852.1:n.712A>T, NM_001201536.1:c.617A>T, XM_047433593.1:c.275A>T, XM_047433596.1:c.275A>T, XM_047433599.1:c.617A>T, XP_005273400.1:p.Tyr206Phe, NP_005672.1:p.Tyr206Phe, XP_006711675.1:p.Tyr168Phe, NP_647603.1:p.Tyr92Phe, XP_047289557.1:p.Tyr168Phe, NP_001188465.1:p.Tyr206Phe, XP_047289549.1:p.Tyr92Phe, XP_047289552.1:p.Tyr92Phe, XP_047289555.1:p.Tyr206Phe

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 510

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity