SNP Links for Protein (Select 131887988) - SNP

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Links from Protein

Items: 1 to 20 of 144

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Select item 14823066921.

rs1482306692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48489607 (GRCh38)
22:48885419 (GRCh37)
Canonical SPDI:: NC_000022.11:48489606:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.48489607C>T, NC_000022.10:g.48885419C>T, NM_001082967.3:c.15C>T, NM_001082967.2:c.15C>T, NM_001082967.1:c.15C>T

Select item 14806815682.

rs1480681568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48489652 (GRCh38)
22:48885464 (GRCh37)
Canonical SPDI:: NC_000022.11:48489651:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.48489652C>T, NC_000022.10:g.48885464C>T, NM_001082967.3:c.60C>T, NM_001082967.2:c.60C>T, NM_001082967.1:c.60C>T

Select item 14802971943.

rs1480297194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:48707741 (GRCh38)
22:49103553 (GRCh37)
Canonical SPDI:: NC_000022.11:48707740:G:T
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.48707741G>T, NC_000022.10:g.49103553G>T, NM_015381.7:c.266G>T, NM_015381.6:c.266G>T, NM_015381.5:c.266G>T, NM_001082967.3:c.287G>T, NM_001082967.2:c.287G>T, NM_001082967.1:c.287G>T, NP_056196.2:p.Trp89Leu, NP_001076436.1:p.Trp96Leu

Select item 14794365534.

rs1479436553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48646681 (GRCh38)
22:49042493 (GRCh37)
Canonical SPDI:: NC_000022.11:48646680:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.48646681C>T, NC_000022.10:g.49042493C>T, NM_015381.7:c.176C>T, NM_015381.6:c.176C>T, NM_015381.5:c.176C>T, NM_001082967.3:c.197C>T, NM_001082967.2:c.197C>T, NM_001082967.1:c.197C>T, NP_056196.2:p.Ala59Val, NP_001076436.1:p.Ala66Val

Select item 14664628295.

rs1466462829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:48646639 (GRCh38)
22:49042451 (GRCh37)
Canonical SPDI:: NC_000022.11:48646638:G:A
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.48646639G>A, NC_000022.10:g.49042451G>A, NM_015381.7:c.134G>A, NM_015381.6:c.134G>A, NM_015381.5:c.134G>A, NM_001082967.3:c.155G>A, NM_001082967.2:c.155G>A, NM_001082967.1:c.155G>A, NP_056196.2:p.Arg45Gln, NP_001076436.1:p.Arg52Gln

Select item 14646406456.

rs1464640645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:48489598 (GRCh38)
22:48885410 (GRCh37)
Canonical SPDI:: NC_000022.11:48489597:G:T
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48489598G>T, NC_000022.10:g.48885410G>T, NM_001082967.3:c.6G>T, NM_001082967.2:c.6G>T, NM_001082967.1:c.6G>T

Select item 14620608757.

rs1462060875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:48489657 (GRCh38)
22:48885469 (GRCh37)
Canonical SPDI:: NC_000022.11:48489656:C:G
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_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_000022.11:g.48489657C>G, NC_000022.10:g.48885469C>G, NM_001082967.3:c.65C>G, NM_001082967.2:c.65C>G, NM_001082967.1:c.65C>G, NP_001076436.1:p.Thr22Ser

Select item 14601389238.

rs1460138923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48489634 (GRCh38)
22:48885446 (GRCh37)
Canonical SPDI:: NC_000022.11:48489633:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.48489634C>T, NC_000022.10:g.48885446C>T, NM_001082967.3:c.42C>T, NM_001082967.2:c.42C>T, NM_001082967.1:c.42C>T

Select item 14584490289.

rs1458449028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:48646739 (GRCh38)
22:49042551 (GRCh37)
Canonical SPDI:: NC_000022.11:48646738:T:C
Gene:: TAFA5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48646739T>C, NC_000022.10:g.49042551T>C, NM_015381.7:c.234T>C, NM_015381.6:c.234T>C, NM_015381.5:c.234T>C, NM_001082967.3:c.255T>C, NM_001082967.2:c.255T>C, NM_001082967.1:c.255T>C

Select item 144996119310.

rs1449961193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48707790 (GRCh38)
22:49103602 (GRCh37)
Canonical SPDI:: NC_000022.11:48707789:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48707790C>T, NC_000022.10:g.49103602C>T, NM_015381.7:c.315C>T, NM_015381.6:c.315C>T, NM_015381.5:c.315C>T, NM_001082967.3:c.336C>T, NM_001082967.2:c.336C>T, NM_001082967.1:c.336C>T

Select item 144289834911.

rs1442898349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:48489602 (GRCh38)
22:48885414 (GRCh37)
Canonical SPDI:: NC_000022.11:48489601:T:C
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.48489602T>C, NC_000022.10:g.48885414T>C, NM_001082967.3:c.10T>C, NM_001082967.2:c.10T>C, NM_001082967.1:c.10T>C, NP_001076436.1:p.Ser4Pro

Select item 142678952712.

rs1426789527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:48489667 (GRCh38)
22:48885479 (GRCh37)
Canonical SPDI:: NC_000022.11:48489666:G:A
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.48489667G>A, NC_000022.10:g.48885479G>A, NM_001082967.3:c.75G>A, NM_001082967.2:c.75G>A, NM_001082967.1:c.75G>A

Select item 142362113013.

rs1423621130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:48646734 (GRCh38)
22:49042546 (GRCh37)
Canonical SPDI:: NC_000022.11:48646733:G:A
Gene:: TAFA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.48646734G>A, NC_000022.10:g.49042546G>A, NM_015381.7:c.229G>A, NM_015381.6:c.229G>A, NM_015381.5:c.229G>A, NM_001082967.3:c.250G>A, NM_001082967.2:c.250G>A, NM_001082967.1:c.250G>A, NP_056196.2:p.Ala77Thr, NP_001076436.1:p.Ala84Thr

Select item 142074051014.

rs1420740510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:48489610 (GRCh38)
22:48885422 (GRCh37)
Canonical SPDI:: NC_000022.11:48489609:G:C
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_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)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.48489610G>C, NC_000022.10:g.48885422G>C, NM_001082967.3:c.18G>C, NM_001082967.2:c.18G>C, NM_001082967.1:c.18G>C, NP_001076436.1:p.Arg6Ser

Select item 141837065615.

rs1418370656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48489696 (GRCh38)
22:48885508 (GRCh37)
Canonical SPDI:: NC_000022.11:48489695:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,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_000022.11:g.48489696C>T, NC_000022.10:g.48885508C>T, NM_001082967.3:c.104C>T, NM_001082967.2:c.104C>T, NM_001082967.1:c.104C>T, NP_001076436.1:p.Ala35Val

Select item 141595744116.

rs1415957441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:48707768 (GRCh38)
22:49103580 (GRCh37)
Canonical SPDI:: NC_000022.11:48707767:G:T
Gene:: TAFA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48707768G>T, NC_000022.10:g.49103580G>T, NM_015381.7:c.293G>T, NM_015381.6:c.293G>T, NM_015381.5:c.293G>T, NM_001082967.3:c.314G>T, NM_001082967.2:c.314G>T, NM_001082967.1:c.314G>T, NP_056196.2:p.Gly98Val, NP_001076436.1:p.Gly105Val

Select item 141348889817.

rs1413488898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48489670 (GRCh38)
22:48885482 (GRCh37)
Canonical SPDI:: NC_000022.11:48489669:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.48489670C>T, NC_000022.10:g.48885482C>T, NM_001082967.3:c.78C>T, NM_001082967.2:c.78C>T, NM_001082967.1:c.78C>T

Select item 141111375618.

rs1411113756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:48489651 (GRCh38)
22:48885463 (GRCh37)
Canonical SPDI:: NC_000022.11:48489650:C:G
Gene:: TAFA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000022.11:g.48489651C>G, NC_000022.10:g.48885463C>G, NM_001082967.3:c.59C>G, NM_001082967.2:c.59C>G, NM_001082967.1:c.59C>G, NP_001076436.1:p.Ser20Cys

Select item 140343880619.

rs1403438806 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:48489617 (GRCh38)
22:48885429 (GRCh37)
Canonical SPDI:: NC_000022.11:48489616:A:T
Gene:: TAFA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.48489617A>T, NC_000022.10:g.48885429A>T, NM_001082967.3:c.25A>T, NM_001082967.2:c.25A>T, NM_001082967.1:c.25A>T, NP_001076436.1:p.Ser9Cys

Select item 140286347020.

rs1402863470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48707838 (GRCh38)
22:49103650 (GRCh37)
Canonical SPDI:: NC_000022.11:48707837:C:T
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.48707838C>T, NC_000022.10:g.49103650C>T, NM_015381.7:c.363C>T, NM_015381.6:c.363C>T, NM_015381.5:c.363C>T, NM_001082967.3:c.384C>T, NM_001082967.2:c.384C>T, NM_001082967.1:c.384C>T

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