SNP Links for Protein (Select 53933210) - SNP

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Links from Protein

Items: 1 to 20 of 143

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Select item 14802971941.

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 14794365532.

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 14664628293.

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 14646541924.

rs1464654192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:48576507 (GRCh38)
22:48972319 (GRCh37)
Canonical SPDI:: NC_000022.11:48576506:A:C
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.48576507A>C, NC_000022.10:g.48972319A>C, NM_015381.7:c.27A>C, NM_015381.6:c.27A>C, NM_015381.5:c.27A>C

Select item 14632120975.

rs1463212097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:48576510 (GRCh38)
22:48972322 (GRCh37)
Canonical SPDI:: NC_000022.11:48576509:G:C
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.48576510G>C, NC_000022.10:g.48972322G>C, NM_015381.7:c.30G>C, NM_015381.6:c.30G>C, NM_015381.5:c.30G>C

Select item 14584490286.

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 14499611937.

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 14438524618.

rs1443852461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:48576485 (GRCh38)
22:48972297 (GRCh37)
Canonical SPDI:: NC_000022.11:48576484:A:G
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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.48576485A>G, NC_000022.10:g.48972297A>G, NM_015381.7:c.5A>G, NM_015381.6:c.5A>G, NM_015381.5:c.5A>G, NP_056196.2:p.Gln2Arg

Select item 14435183419.

rs1443518341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:48576552 (GRCh38)
22:48972364 (GRCh37)
Canonical SPDI:: NC_000022.11:48576551:C:G
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.48576552C>G, NC_000022.10:g.48972364C>G, NM_015381.7:c.72C>G, NM_015381.6:c.72C>G, NM_015381.5:c.72C>G, NP_056196.2:p.His24Gln

Select item 143301242010.

rs1433012420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48576534 (GRCh38)
22:48972346 (GRCh37)
Canonical SPDI:: NC_000022.11:48576533:C:T
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48576534C>T, NC_000022.10:g.48972346C>T, NM_015381.7:c.54C>T, NM_015381.6:c.54C>T, NM_015381.5:c.54C>T

Select item 142362113011.

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 141595744112.

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 141447843113.

rs1414478431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:48576561 (GRCh38)
22:48972373 (GRCh37)
Canonical SPDI:: NC_000022.11:48576560:C:T
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.48576561C>T, NC_000022.10:g.48972373C>T, NM_015381.7:c.81C>T, NM_015381.6:c.81C>T, NM_015381.5:c.81C>T

Select item 141200897114.

rs1412008971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:48576522 (GRCh38)
22:48972334 (GRCh37)
Canonical SPDI:: NC_000022.11:48576521:G:A,NC_000022.11:48576521:G:T
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.48576522G>A, NC_000022.11:g.48576522G>T, NC_000022.10:g.48972334G>A, NC_000022.10:g.48972334G>T, NM_015381.7:c.42G>A, NM_015381.7:c.42G>T, NM_015381.6:c.42G>A, NM_015381.6:c.42G>T, NM_015381.5:c.42G>A, NM_015381.5:c.42G>T

Select item 140510974215.

rs1405109742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:48576525 (GRCh38)
22:48972337 (GRCh37)
Canonical SPDI:: NC_000022.11:48576524:C:G,NC_000022.11:48576524:C:T
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48576525C>G, NC_000022.11:g.48576525C>T, NC_000022.10:g.48972337C>G, NC_000022.10:g.48972337C>T, NM_015381.7:c.45C>G, NM_015381.7:c.45C>T, NM_015381.6:c.45C>G, NM_015381.6:c.45C>T, NM_015381.5:c.45C>G, NM_015381.5:c.45C>T

Select item 140286347016.

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

Select item 140134521117.

rs1401345211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:48646706 (GRCh38)
22:49042518 (GRCh37)
Canonical SPDI:: NC_000022.11:48646705:G:A
Gene:: TAFA5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.48646706G>A, NC_000022.10:g.49042518G>A, NM_015381.7:c.201G>A, NM_015381.6:c.201G>A, NM_015381.5:c.201G>A, NM_001082967.3:c.222G>A, NM_001082967.2:c.222G>A, NM_001082967.1:c.222G>A

Select item 139641809618.

rs1396418096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:48646699 (GRCh38)
22:49042511 (GRCh37)
Canonical SPDI:: NC_000022.11:48646698:A:C
Gene:: TAFA5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.48646699A>C, NC_000022.10:g.49042511A>C, NM_015381.7:c.194A>C, NM_015381.6:c.194A>C, NM_015381.5:c.194A>C, NM_001082967.3:c.215A>C, NM_001082967.2:c.215A>C, NM_001082967.1:c.215A>C, NP_056196.2:p.Lys65Thr, NP_001076436.1:p.Lys72Thr

Select item 139109663819.

rs1391096638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:48576529 (GRCh38)
22:48972341 (GRCh37)
Canonical SPDI:: NC_000022.11:48576528:T:C
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.48576529T>C, NC_000022.10:g.48972341T>C, NM_015381.7:c.49T>C, NM_015381.6:c.49T>C, NM_015381.5:c.49T>C, NP_056196.2:p.Cys17Arg

Select item 139011128920.

rs1390111289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:48576515 (GRCh38)
22:48972327 (GRCh37)
Canonical SPDI:: NC_000022.11:48576514:G:A
Gene:: TAFA5 (Varview), LOC124900480 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.48576515G>A, NC_000022.10:g.48972327G>A, NM_015381.7:c.35G>A, NM_015381.6:c.35G>A, NM_015381.5:c.35G>A, NP_056196.2:p.Gly12Glu

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