SNP Links for Protein (Select 27886642) - SNP

Links from Protein

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Select item 14889780001.

rs1488978000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:86790580 (GRCh38)
2:87017703 (GRCh37)
Canonical SPDI:: NC_000002.12:86790579:T:C
Gene:: CD8A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86790580T>C, NC_000002.11:g.87017703T>C, NG_011608.2:g.22817A>G, NM_001768.7:c.151A>G, NM_001768.6:c.151A>G, NM_171827.4:c.151A>G, NM_171827.3:c.151A>G, NR_027353.2:n.592A>G, NR_027353.1:n.626A>G, NR_168478.1:n.1735A>G, NR_168480.1:n.1581A>G, NM_001145873.1:c.151A>G, NM_001382698.1:c.151A>G, NP_001759.3:p.Thr51Ala, NP_741969.1:p.Thr51Ala, NP_001139345.1:p.Thr51Ala, NP_001369627.1:p.Thr51Ala

Select item 14865522022.

rs1486552202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:86790821 (GRCh38)
2:87017944 (GRCh37)
Canonical SPDI:: NC_000002.12:86790820:G:A
Gene:: CD8A (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.86790821G>A, NC_000002.11:g.87017944G>A, NG_011608.2:g.22576C>T, NM_001768.7:c.5C>T, NM_001768.6:c.5C>T, NM_171827.4:c.5C>T, NM_171827.3:c.5C>T, NR_027353.2:n.446C>T, NR_027353.1:n.480C>T, NR_168478.1:n.1589C>T, NR_168480.1:n.1435C>T, NM_001145873.1:c.5C>T, NM_001382698.1:c.5C>T, NP_001759.3:p.Ala2Val, NP_741969.1:p.Ala2Val, NP_001139345.1:p.Ala2Val, NP_001369627.1:p.Ala2Val

Select item 14841042193.

rs1484104219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86789746 (GRCh38)
2:87016869 (GRCh37)
Canonical SPDI:: NC_000002.12:86789745:C:T
Gene:: CD8A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.86789746C>T, NC_000002.11:g.87016869C>T, NG_011608.2:g.23651G>A, NM_001768.7:c.408G>A, NM_001768.6:c.408G>A, NM_171827.4:c.408G>A, NM_171827.3:c.408G>A, NR_027353.2:n.849G>A, NR_027353.1:n.883G>A, NR_168478.1:n.1992G>A, NR_168480.1:n.1838G>A, NM_001145873.1:c.408G>A, NM_001382698.1:c.408G>A

Select item 14785396854.

rs1478539685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:86790530 (GRCh38)
2:87017653 (GRCh37)
Canonical SPDI:: NC_000002.12:86790529:G:T
Gene:: CD8A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.86790530G>T, NC_000002.11:g.87017653G>T, NG_011608.2:g.22867C>A, NM_001768.7:c.201C>A, NM_001768.6:c.201C>A, NM_171827.4:c.201C>A, NM_171827.3:c.201C>A, NR_027353.2:n.642C>A, NR_027353.1:n.676C>A, NR_168478.1:n.1785C>A, NR_168480.1:n.1631C>A, NM_001145873.1:c.201C>A, NM_001382698.1:c.201C>A

Select item 14775743825.

rs1477574382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86790781 (GRCh38)
2:87017904 (GRCh37)
Canonical SPDI:: NC_000002.12:86790780:C:T
Gene:: CD8A (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86790781C>T, NC_000002.11:g.87017904C>T, NG_011608.2:g.22616G>A, NM_001768.7:c.45G>A, NM_001768.6:c.45G>A, NM_171827.4:c.45G>A, NM_171827.3:c.45G>A, NR_027353.2:n.486G>A, NR_027353.1:n.520G>A, NR_168478.1:n.1629G>A, NR_168480.1:n.1475G>A, NM_001145873.1:c.45G>A, NM_001382698.1:c.45G>A

Select item 14726969056.

rs1472696905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:86790441 (GRCh38)
2:87017564 (GRCh37)
Canonical SPDI:: NC_000002.12:86790440:G:T
Gene:: CD8A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.86790441G>T, NC_000002.11:g.87017564G>T, NG_011608.2:g.22956C>A, NM_001768.7:c.290C>A, NM_001768.6:c.290C>A, NM_171827.4:c.290C>A, NM_171827.3:c.290C>A, NR_027353.2:n.731C>A, NR_027353.1:n.765C>A, NR_168478.1:n.1874C>A, NR_168480.1:n.1720C>A, NM_001145873.1:c.290C>A, NM_001382698.1:c.290C>A, NP_001759.3:p.Thr97Asn, NP_741969.1:p.Thr97Asn, NP_001139345.1:p.Thr97Asn, NP_001369627.1:p.Thr97Asn

Select item 14674411657.

rs1467441165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:86790532 (GRCh38)
2:87017655 (GRCh37)
Canonical SPDI:: NC_000002.12:86790531:G:T
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.86790532G>T, NC_000002.11:g.87017655G>T, NG_011608.2:g.22865C>A, NM_001768.7:c.199C>A, NM_001768.6:c.199C>A, NM_171827.4:c.199C>A, NM_171827.3:c.199C>A, NR_027353.2:n.640C>A, NR_027353.1:n.674C>A, NR_168478.1:n.1783C>A, NR_168480.1:n.1629C>A, NM_001145873.1:c.199C>A, NM_001382698.1:c.199C>A, NP_001759.3:p.Pro67Thr, NP_741969.1:p.Pro67Thr, NP_001139345.1:p.Pro67Thr, NP_001369627.1:p.Pro67Thr

Select item 14670408638.

rs1467040863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:86789642 (GRCh38)
2:87016765 (GRCh37)
Canonical SPDI:: NC_000002.12:86789641:G:A
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.86789642G>A, NC_000002.11:g.87016765G>A, NG_011608.2:g.23755C>T, NM_001768.7:c.512C>T, NM_001768.6:c.512C>T, NM_171827.4:c.512C>T, NM_171827.3:c.512C>T, NR_027353.2:n.953C>T, NR_027353.1:n.987C>T, NR_168478.1:n.2096C>T, NR_168480.1:n.1942C>T, NM_001145873.1:c.512C>T, NM_001382698.1:c.512C>T, NP_001759.3:p.Ala171Val, NP_741969.1:p.Ala171Val, NP_001139345.1:p.Ala171Val, NP_001369627.1:p.Ala171Val

Select item 14653109349.

rs1465310934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:86789702 (GRCh38)
2:87016825 (GRCh37)
Canonical SPDI:: NC_000002.12:86789701:G:C
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000018/1 (GnomAD_exomes)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.86789702G>C, NC_000002.11:g.87016825G>C, NG_011608.2:g.23695C>G, NM_001768.7:c.452C>G, NM_001768.6:c.452C>G, NM_171827.4:c.452C>G, NM_171827.3:c.452C>G, NR_027353.2:n.893C>G, NR_027353.1:n.927C>G, NR_168478.1:n.2036C>G, NR_168480.1:n.1882C>G, NM_001145873.1:c.452C>G, NM_001382698.1:c.452C>G, NP_001759.3:p.Thr151Ser, NP_741969.1:p.Thr151Ser, NP_001139345.1:p.Thr151Ser, NP_001369627.1:p.Thr151Ser

Select item 146343687710.

rs1463436877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:86790454 (GRCh38)
2:87017577 (GRCh37)
Canonical SPDI:: NC_000002.12:86790453:T:A
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.86790454T>A, NC_000002.11:g.87017577T>A, NG_011608.2:g.22943A>T, NM_001768.7:c.277A>T, NM_001768.6:c.277A>T, NM_171827.4:c.277A>T, NM_171827.3:c.277A>T, NR_027353.2:n.718A>T, NR_027353.1:n.752A>T, NR_168478.1:n.1861A>T, NR_168480.1:n.1707A>T, NM_001145873.1:c.277A>T, NM_001382698.1:c.277A>T, NP_001759.3:p.Arg93Trp, NP_741969.1:p.Arg93Trp, NP_001139345.1:p.Arg93Trp, NP_001369627.1:p.Arg93Trp

Select item 146171969511.

rs1461719695 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 2:86790396 (GRCh38)
2:87017519 (GRCh37)
Canonical SPDI:: NC_000002.12:86790392:TAGTAG:TAG
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_deletion,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: TAGTAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.86790393TAG[1], NC_000002.11:g.87017516TAG[1], NG_011608.2:g.22999CTA[1], NM_001768.7:c.333CTA[1], NM_001768.6:c.333CTA[1], NM_171827.4:c.333CTA[1], NM_171827.3:c.333CTA[1], NR_027353.2:n.774CTA[1], NR_027353.1:n.808CTA[1], NR_168478.1:n.1917CTA[1], NR_168480.1:n.1763CTA[1], NM_001145873.1:c.333CTA[1], NM_001382698.1:c.333CTA[1], NP_001759.3:p.Tyr113del, NP_741969.1:p.Tyr113del, NP_001139345.1:p.Tyr113del, NP_001369627.1:p.Tyr113del

Select item 145588705612.

rs1455887056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86785965 (GRCh38)
2:87013088 (GRCh37)
Canonical SPDI:: NC_000002.12:86785964:C:T
Gene:: CD8A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86785965C>T, NC_000002.11:g.87013088C>T, NG_011608.2:g.27432G>A, NM_001768.7:c.663G>A, NM_001768.6:c.663G>A, NM_171827.4:c.552G>A, NM_171827.3:c.552G>A, NR_027353.2:n.1104G>A, NR_027353.1:n.1138G>A, NR_168478.1:n.2247G>A, NR_168480.1:n.1982G>A, NM_001145873.1:c.663G>A, NM_001382698.1:c.663G>A, NR_168481.1:n.781G>A, NR_168479.1:n.750G>A

Select item 145110023913.

rs1451100239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:86789645 (GRCh38)
2:87016768 (GRCh37)
Canonical SPDI:: NC_000002.12:86789644:C:A,NC_000002.12:86789644:C:T
Gene:: CD8A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0.00011/1 (ALFA)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86789645C>A, NC_000002.12:g.86789645C>T, NC_000002.11:g.87016768C>A, NC_000002.11:g.87016768C>T, NG_011608.2:g.23752G>T, NG_011608.2:g.23752G>A, NM_001768.7:c.509G>T, NM_001768.7:c.509G>A, NM_001768.6:c.509G>T, NM_001768.6:c.509G>A, NM_171827.4:c.509G>T, NM_171827.4:c.509G>A, NM_171827.3:c.509G>T, NM_171827.3:c.509G>A, NR_027353.2:n.950G>T, NR_027353.2:n.950G>A, NR_027353.1:n.984G>T, NR_027353.1:n.984G>A, NR_168478.1:n.2093G>T, NR_168478.1:n.2093G>A, NR_168480.1:n.1939G>T, NR_168480.1:n.1939G>A, NM_001145873.1:c.509G>T, NM_001145873.1:c.509G>A, NM_001382698.1:c.509G>T, NM_001382698.1:c.509G>A, NP_001759.3:p.Gly170Val, NP_001759.3:p.Gly170Asp, NP_741969.1:p.Gly170Val, NP_741969.1:p.Gly170Asp, NP_001139345.1:p.Gly170Val, NP_001139345.1:p.Gly170Asp, NP_001369627.1:p.Gly170Val, NP_001369627.1:p.Gly170Asp

Select item 145002084314.

rs1450020843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:86790359 (GRCh38)
2:87017482 (GRCh37)
Canonical SPDI:: NC_000002.12:86790358:G:A
Gene:: CD8A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86790359G>A, NC_000002.11:g.87017482G>A, NG_011608.2:g.23038C>T, NM_001768.7:c.372C>T, NM_001768.6:c.372C>T, NM_171827.4:c.372C>T, NM_171827.3:c.372C>T, NR_027353.2:n.813C>T, NR_027353.1:n.847C>T, NR_168478.1:n.1956C>T, NR_168480.1:n.1802C>T, NM_001145873.1:c.372C>T, NM_001382698.1:c.372C>T

Select item 144857028315.

rs1448570283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:86790469 (GRCh38)
2:87017592 (GRCh37)
Canonical SPDI:: NC_000002.12:86790468:G:A,NC_000002.12:86790468:G:T
Gene:: CD8A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.86790469G>A, NC_000002.12:g.86790469G>T, NC_000002.11:g.87017592G>A, NC_000002.11:g.87017592G>T, NG_011608.2:g.22928C>T, NG_011608.2:g.22928C>A, NM_001768.7:c.262C>T, NM_001768.7:c.262C>A, NM_001768.6:c.262C>T, NM_001768.6:c.262C>A, NM_171827.4:c.262C>T, NM_171827.4:c.262C>A, NM_171827.3:c.262C>T, NM_171827.3:c.262C>A, NR_027353.2:n.703C>T, NR_027353.2:n.703C>A, NR_027353.1:n.737C>T, NR_027353.1:n.737C>A, NR_168478.1:n.1846C>T, NR_168478.1:n.1846C>A, NR_168480.1:n.1692C>T, NR_168480.1:n.1692C>A, NM_001145873.1:c.262C>T, NM_001145873.1:c.262C>A, NM_001382698.1:c.262C>T, NM_001382698.1:c.262C>A, NP_001759.3:p.Arg88Trp, NP_741969.1:p.Arg88Trp, NP_001139345.1:p.Arg88Trp, NP_001369627.1:p.Arg88Trp

Select item 144401864816.

rs1444018648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:86790392 (GRCh38)
2:87017515 (GRCh37)
Canonical SPDI:: NC_000002.12:86790391:A:G
Gene:: CD8A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86790392A>G, NC_000002.11:g.87017515A>G, NG_011608.2:g.23005T>C, NM_001768.7:c.339T>C, NM_001768.6:c.339T>C, NM_171827.4:c.339T>C, NM_171827.3:c.339T>C, NR_027353.2:n.780T>C, NR_027353.1:n.814T>C, NR_168478.1:n.1923T>C, NR_168480.1:n.1769T>C, NM_001145873.1:c.339T>C, NM_001382698.1:c.339T>C

Select item 143995877517.

rs1439958775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:86790595 (GRCh38)
2:87017718 (GRCh37)
Canonical SPDI:: NC_000002.12:86790594:G:A
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.86790595G>A, NC_000002.11:g.87017718G>A, NG_011608.2:g.22802C>T, NM_001768.7:c.136C>T, NM_001768.6:c.136C>T, NM_171827.4:c.136C>T, NM_171827.3:c.136C>T, NR_027353.2:n.577C>T, NR_027353.1:n.611C>T, NR_168478.1:n.1720C>T, NR_168480.1:n.1566C>T, NM_001145873.1:c.136C>T, NM_001382698.1:c.136C>T

Select item 143339818718.

rs1433398187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:86789648 (GRCh38)
2:87016771 (GRCh37)
Canonical SPDI:: NC_000002.12:86789647:C:A,NC_000002.12:86789647:C:T
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86789648C>A, NC_000002.12:g.86789648C>T, NC_000002.11:g.87016771C>A, NC_000002.11:g.87016771C>T, NG_011608.2:g.23749G>T, NG_011608.2:g.23749G>A, NM_001768.7:c.506G>T, NM_001768.7:c.506G>A, NM_001768.6:c.506G>T, NM_001768.6:c.506G>A, NM_171827.4:c.506G>T, NM_171827.4:c.506G>A, NM_171827.3:c.506G>T, NM_171827.3:c.506G>A, NR_027353.2:n.947G>T, NR_027353.2:n.947G>A, NR_027353.1:n.981G>T, NR_027353.1:n.981G>A, NR_168478.1:n.2090G>T, NR_168478.1:n.2090G>A, NR_168480.1:n.1936G>T, NR_168480.1:n.1936G>A, NM_001145873.1:c.506G>T, NM_001145873.1:c.506G>A, NM_001382698.1:c.506G>T, NM_001382698.1:c.506G>A, NP_001759.3:p.Gly169Val, NP_001759.3:p.Gly169Glu, NP_741969.1:p.Gly169Val, NP_741969.1:p.Gly169Glu, NP_001139345.1:p.Gly169Val, NP_001139345.1:p.Gly169Glu, NP_001369627.1:p.Gly169Val, NP_001369627.1:p.Gly169Glu

Select item 142964263619.

rs1429642636 [Homo sapiens]

Variant type:: DEL
Alleles:: TGC>- [Show Flanks]
Chromosome:: 2:86788540 (GRCh38)
2:87015663 (GRCh37)
Canonical SPDI:: NC_000002.12:86788539:TGC:
Gene:: CD8A (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_indel,stop_gained
HGVS:: NC_000002.12:g.86788540_86788542del, NC_000002.11:g.87015663_87015665del, NG_011608.2:g.24855_24857del, NM_001768.7:c.644_646del, NM_001768.6:c.644_646del, NM_171827.4:c.533_535del, NM_171827.3:c.533_535del, NR_027353.2:n.1085_1087del, NR_027353.1:n.1119_1121del, NR_168478.1:n.2228_2230del, NR_168480.1:n.1963_1965del, NM_001145873.1:c.644_646del, NM_001382698.1:c.644_646del, NR_168481.1:n.762_764del, NG_044961.1:g.2565_2567del, NP_001759.3:p.Cys215_Lys216delinsTer, NP_741969.1:p.Cys178_Lys179delinsTer, NP_001139345.1:p.Cys215_Lys216delinsTer, NP_001369627.1:p.Cys215_Lys216delinsTer

Select item 142853784920.

rs1428537849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:86790658 (GRCh38)
2:87017781 (GRCh37)
Canonical SPDI:: NC_000002.12:86790657:G:A
Gene:: CD8A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86790658G>A, NC_000002.11:g.87017781G>A, NG_011608.2:g.22739C>T, NM_001768.7:c.73C>T, NM_001768.6:c.73C>T, NM_171827.4:c.73C>T, NM_171827.3:c.73C>T, NR_027353.2:n.514C>T, NR_027353.1:n.548C>T, NR_168478.1:n.1657C>T, NR_168480.1:n.1503C>T, NM_001145873.1:c.73C>T, NM_001382698.1:c.73C>T, NP_001759.3:p.Arg25Trp, NP_741969.1:p.Arg25Trp, NP_001139345.1:p.Arg25Trp, NP_001369627.1:p.Arg25Trp

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