SNP Links for Protein (Select 148728188) - SNP

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Links from Protein

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Select item 14902345961.

rs1490234596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:3729481 (GRCh38)
17:3632775 (GRCh37)
Canonical SPDI:: NC_000017.11:3729480:G:C
Gene:: ITGAE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.3729481G>C, NC_000017.10:g.3632775G>C, NM_002208.5:c.2909C>G, NM_002208.4:c.2909C>G, XM_011523825.4:c.2972C>G, XM_011523825.3:c.3023C>G, XM_011523825.2:c.3023C>G, XM_011523825.1:c.3023C>G, XM_011523827.4:c.2810C>G, XM_011523827.3:c.2861C>G, XM_011523827.2:c.2861C>G, XM_011523827.1:c.2861C>G, XM_024450740.2:c.2972C>G, XM_024450740.1:c.3023C>G, NP_002199.3:p.Ser970Cys, XP_011522127.2:p.Ser991Cys, XP_011522129.2:p.Ser937Cys, XP_024306508.2:p.Ser991Cys

Select item 14898529832.

rs1489852983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3759475 (GRCh38)
17:3662769 (GRCh37)
Canonical SPDI:: NC_000017.11:3759474:A:G
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3759475A>G, NC_000017.10:g.3662769A>G, NM_002208.5:c.793T>C, NM_002208.4:c.793T>C, XM_011523825.4:c.793T>C, XM_011523825.3:c.844T>C, XM_011523825.2:c.844T>C, XM_011523825.1:c.844T>C, XM_011523827.4:c.793T>C, XM_011523827.3:c.844T>C, XM_011523827.2:c.844T>C, XM_011523827.1:c.844T>C, XM_011523828.4:c.793T>C, XM_011523828.3:c.844T>C, XM_011523828.2:c.844T>C, XM_011523828.1:c.844T>C, XM_024450740.2:c.793T>C, XM_024450740.1:c.844T>C, XM_017024586.2:c.793T>C, XM_017024586.1:c.844T>C, XM_047435923.1:c.793T>C, XM_047435924.1:c.793T>C, NP_002199.3:p.Ser265Pro, XP_011522127.2:p.Ser265Pro, XP_011522129.2:p.Ser265Pro, XP_011522130.2:p.Ser265Pro, XP_024306508.2:p.Ser265Pro, XP_016880075.2:p.Ser265Pro, XP_047291879.1:p.Ser265Pro, XP_047291880.1:p.Ser265Pro

Select item 14898285643.

rs1489828564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3743536 (GRCh38)
17:3646830 (GRCh37)
Canonical SPDI:: NC_000017.11:3743535:G:A
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.3743536G>A, NC_000017.10:g.3646830G>A, NM_002208.5:c.2401C>T, NM_002208.4:c.2401C>T, XM_011523825.4:c.2401C>T, XM_011523825.3:c.2452C>T, XM_011523825.2:c.2452C>T, XM_011523825.1:c.2452C>T, XM_011523827.4:c.2401C>T, XM_011523827.3:c.2452C>T, XM_011523827.2:c.2452C>T, XM_011523827.1:c.2452C>T, XM_011523828.4:c.2401C>T, XM_011523828.3:c.2452C>T, XM_011523828.2:c.2452C>T, XM_011523828.1:c.2452C>T, XM_024450740.2:c.2401C>T, XM_024450740.1:c.2452C>T, XM_017024586.2:c.2401C>T, XM_017024586.1:c.2452C>T, XM_047435923.1:c.2401C>T, XM_047435924.1:c.2401C>T, NP_002199.3:p.Pro801Ser, XP_011522127.2:p.Pro801Ser, XP_011522129.2:p.Pro801Ser, XP_011522130.2:p.Pro801Ser, XP_024306508.2:p.Pro801Ser, XP_016880075.2:p.Pro801Ser, XP_047291879.1:p.Pro801Ser, XP_047291880.1:p.Pro801Ser

Select item 14886961074.

rs1488696107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3760256 (GRCh38)
17:3663550 (GRCh37)
Canonical SPDI:: NC_000017.11:3760255:T:C
Gene:: ITGAE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3760256T>C, NC_000017.10:g.3663550T>C, NM_002208.5:c.630A>G, NM_002208.4:c.630A>G, XM_011523825.4:c.630A>G, XM_011523825.3:c.681A>G, XM_011523825.2:c.681A>G, XM_011523825.1:c.681A>G, XM_011523827.4:c.630A>G, XM_011523827.3:c.681A>G, XM_011523827.2:c.681A>G, XM_011523827.1:c.681A>G, XM_011523828.4:c.630A>G, XM_011523828.3:c.681A>G, XM_011523828.2:c.681A>G, XM_011523828.1:c.681A>G, XM_024450740.2:c.630A>G, XM_024450740.1:c.681A>G, XM_017024586.2:c.630A>G, XM_017024586.1:c.681A>G, XM_047435923.1:c.630A>G, XM_047435924.1:c.630A>G

Select item 14878898285.

rs1487889828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3723312 (GRCh38)
17:3626606 (GRCh37)
Canonical SPDI:: NC_000017.11:3723311:C:T
Gene:: ITGAE (Varview), HASPIN (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.3723312C>T, NC_000017.10:g.3626606C>T, NM_002208.5:c.3213G>A, NM_002208.4:c.3213G>A, XM_011523827.4:c.3114G>A, XM_011523827.3:c.3165G>A, XM_011523827.2:c.3165G>A, XM_011523827.1:c.3165G>A, XM_011523828.4:c.3036G>A, XM_011523828.3:c.3087G>A, XM_011523828.2:c.3087G>A, XM_011523828.1:c.3087G>A, XM_024450740.2:c.3276G>A, XM_024450740.1:c.3327G>A, XM_017024586.2:c.3198G>A, XM_017024586.1:c.3249G>A, XM_047435923.1:c.3135G>A

Select item 14876657686.

rs1487665768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3743592 (GRCh38)
17:3646886 (GRCh37)
Canonical SPDI:: NC_000017.11:3743591:T:C
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.3743592T>C, NC_000017.10:g.3646886T>C, NM_002208.5:c.2345A>G, NM_002208.4:c.2345A>G, XM_011523825.4:c.2345A>G, XM_011523825.3:c.2396A>G, XM_011523825.2:c.2396A>G, XM_011523825.1:c.2396A>G, XM_011523827.4:c.2345A>G, XM_011523827.3:c.2396A>G, XM_011523827.2:c.2396A>G, XM_011523827.1:c.2396A>G, XM_011523828.4:c.2345A>G, XM_011523828.3:c.2396A>G, XM_011523828.2:c.2396A>G, XM_011523828.1:c.2396A>G, XM_024450740.2:c.2345A>G, XM_024450740.1:c.2396A>G, XM_017024586.2:c.2345A>G, XM_017024586.1:c.2396A>G, XM_047435923.1:c.2345A>G, XM_047435924.1:c.2345A>G, NP_002199.3:p.Asn782Ser, XP_011522127.2:p.Asn782Ser, XP_011522129.2:p.Asn782Ser, XP_011522130.2:p.Asn782Ser, XP_024306508.2:p.Asn782Ser, XP_016880075.2:p.Asn782Ser, XP_047291879.1:p.Asn782Ser, XP_047291880.1:p.Asn782Ser

Select item 14876569777.

rs1487656977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:3751699 (GRCh38)
17:3654993 (GRCh37)
Canonical SPDI:: NC_000017.11:3751698:A:T
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.3751699A>T, NC_000017.10:g.3654993A>T, NM_002208.5:c.1844T>A, NM_002208.4:c.1844T>A, XM_011523825.4:c.1844T>A, XM_011523825.3:c.1895T>A, XM_011523825.2:c.1895T>A, XM_011523825.1:c.1895T>A, XM_011523827.4:c.1844T>A, XM_011523827.3:c.1895T>A, XM_011523827.2:c.1895T>A, XM_011523827.1:c.1895T>A, XM_011523828.4:c.1844T>A, XM_011523828.3:c.1895T>A, XM_011523828.2:c.1895T>A, XM_011523828.1:c.1895T>A, XM_024450740.2:c.1844T>A, XM_024450740.1:c.1895T>A, XM_017024586.2:c.1844T>A, XM_017024586.1:c.1895T>A, XM_047435923.1:c.1844T>A, XM_047435924.1:c.1844T>A, NP_002199.3:p.Val615Glu, XP_011522127.2:p.Val615Glu, XP_011522129.2:p.Val615Glu, XP_011522130.2:p.Val615Glu, XP_024306508.2:p.Val615Glu, XP_016880075.2:p.Val615Glu, XP_047291879.1:p.Val615Glu, XP_047291880.1:p.Val615Glu

Select item 14873215018.

rs1487321501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:3777602 (GRCh38)
17:3680896 (GRCh37)
Canonical SPDI:: NC_000017.11:3777601:C:A,NC_000017.11:3777601:C:T
Gene:: ITGAE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.3777602C>A, NC_000017.11:g.3777602C>T, NC_000017.10:g.3680896C>A, NC_000017.10:g.3680896C>T, NM_002208.5:c.93G>T, NM_002208.5:c.93G>A, NM_002208.4:c.93G>T, NM_002208.4:c.93G>A, XM_011523825.4:c.93G>T, XM_011523825.4:c.93G>A, XM_011523825.3:c.144G>T, XM_011523825.3:c.144G>A, XM_011523825.2:c.144G>T, XM_011523825.2:c.144G>A, XM_011523825.1:c.144G>T, XM_011523825.1:c.144G>A, XM_011523827.4:c.93G>T, XM_011523827.4:c.93G>A, XM_011523827.3:c.144G>T, XM_011523827.3:c.144G>A, XM_011523827.2:c.144G>T, XM_011523827.2:c.144G>A, XM_011523827.1:c.144G>T, XM_011523827.1:c.144G>A, XM_011523828.4:c.93G>T, XM_011523828.4:c.93G>A, XM_011523828.3:c.144G>T, XM_011523828.3:c.144G>A, XM_011523828.2:c.144G>T, XM_011523828.2:c.144G>A, XM_011523828.1:c.144G>T, XM_011523828.1:c.144G>A, XM_024450740.2:c.93G>T, XM_024450740.2:c.93G>A, XM_024450740.1:c.144G>T, XM_024450740.1:c.144G>A, XM_017024586.2:c.93G>T, XM_017024586.2:c.93G>A, XM_017024586.1:c.144G>T, XM_017024586.1:c.144G>A, XM_047435923.1:c.93G>T, XM_047435923.1:c.93G>A, XM_047435924.1:c.93G>T, XM_047435924.1:c.93G>A, NP_002199.3:p.Lys31Asn, XP_011522127.2:p.Lys31Asn, XP_011522129.2:p.Lys31Asn, XP_011522130.2:p.Lys31Asn, XP_024306508.2:p.Lys31Asn, XP_016880075.2:p.Lys31Asn, XP_047291879.1:p.Lys31Asn, XP_047291880.1:p.Lys31Asn

Select item 14871706869.

rs1487170686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3801134 (GRCh38)
17:3704428 (GRCh37)
Canonical SPDI:: NC_000017.11:3801133:A:G
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.3801134A>G, NC_000017.10:g.3704428A>G, NM_002208.5:c.11T>C, NM_002208.4:c.11T>C, XM_011523825.4:c.11T>C, XM_011523825.3:c.62T>C, XM_011523825.2:c.62T>C, XM_011523825.1:c.62T>C, XM_011523827.4:c.11T>C, XM_011523827.3:c.62T>C, XM_011523827.2:c.62T>C, XM_011523827.1:c.62T>C, XM_011523828.4:c.11T>C, XM_011523828.3:c.62T>C, XM_011523828.2:c.62T>C, XM_011523828.1:c.62T>C, XM_024450740.2:c.11T>C, XM_024450740.1:c.62T>C, XM_017024586.2:c.11T>C, XM_017024586.1:c.62T>C, XM_047435923.1:c.11T>C, XM_047435924.1:c.11T>C, NP_002199.3:p.Phe4Ser, XP_011522127.2:p.Phe4Ser, XP_011522129.2:p.Phe4Ser, XP_011522130.2:p.Phe4Ser, XP_024306508.2:p.Phe4Ser, XP_016880075.2:p.Phe4Ser, XP_047291879.1:p.Phe4Ser, XP_047291880.1:p.Phe4Ser

Select item 148699451010.

rs1486994510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:3750435 (GRCh38)
17:3653729 (GRCh37)
Canonical SPDI:: NC_000017.11:3750434:C:A
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3750435C>A, NC_000017.10:g.3653729C>A, NM_002208.5:c.1941G>T, NM_002208.4:c.1941G>T, XM_011523825.4:c.1941G>T, XM_011523825.3:c.1992G>T, XM_011523825.2:c.1992G>T, XM_011523825.1:c.1992G>T, XM_011523827.4:c.1941G>T, XM_011523827.3:c.1992G>T, XM_011523827.2:c.1992G>T, XM_011523827.1:c.1992G>T, XM_011523828.4:c.1941G>T, XM_011523828.3:c.1992G>T, XM_011523828.2:c.1992G>T, XM_011523828.1:c.1992G>T, XM_024450740.2:c.1941G>T, XM_024450740.1:c.1992G>T, XM_017024586.2:c.1941G>T, XM_017024586.1:c.1992G>T, XM_047435923.1:c.1941G>T, XM_047435924.1:c.1941G>T, NP_002199.3:p.Met647Ile, XP_011522127.2:p.Met647Ile, XP_011522129.2:p.Met647Ile, XP_011522130.2:p.Met647Ile, XP_024306508.2:p.Met647Ile, XP_016880075.2:p.Met647Ile, XP_047291879.1:p.Met647Ile, XP_047291880.1:p.Met647Ile

Select item 148668854811.

rs1486688548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3750382 (GRCh38)
17:3653676 (GRCh37)
Canonical SPDI:: NC_000017.11:3750381:A:G
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.3750382A>G, NC_000017.10:g.3653676A>G, NM_002208.5:c.1994T>C, NM_002208.4:c.1994T>C, XM_011523825.4:c.1994T>C, XM_011523825.3:c.2045T>C, XM_011523825.2:c.2045T>C, XM_011523825.1:c.2045T>C, XM_011523827.4:c.1994T>C, XM_011523827.3:c.2045T>C, XM_011523827.2:c.2045T>C, XM_011523827.1:c.2045T>C, XM_011523828.4:c.1994T>C, XM_011523828.3:c.2045T>C, XM_011523828.2:c.2045T>C, XM_011523828.1:c.2045T>C, XM_024450740.2:c.1994T>C, XM_024450740.1:c.2045T>C, XM_017024586.2:c.1994T>C, XM_017024586.1:c.2045T>C, XM_047435923.1:c.1994T>C, XM_047435924.1:c.1994T>C, NP_002199.3:p.Val665Ala, XP_011522127.2:p.Val665Ala, XP_011522129.2:p.Val665Ala, XP_011522130.2:p.Val665Ala, XP_024306508.2:p.Val665Ala, XP_016880075.2:p.Val665Ala, XP_047291879.1:p.Val665Ala, XP_047291880.1:p.Val665Ala

Select item 148606949912.

rs1486069499 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3723382 (GRCh38)
17:3626676 (GRCh37)
Canonical SPDI:: NC_000017.11:3723381:T:C
Gene:: ITGAE (Varview), HASPIN (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3723382T>C, NC_000017.10:g.3626676T>C, NM_002208.5:c.3143A>G, NM_002208.4:c.3143A>G, XM_011523827.4:c.3044A>G, XM_011523827.3:c.3095A>G, XM_011523827.2:c.3095A>G, XM_011523827.1:c.3095A>G, XM_011523828.4:c.2966A>G, XM_011523828.3:c.3017A>G, XM_011523828.2:c.3017A>G, XM_011523828.1:c.3017A>G, XM_024450740.2:c.3206A>G, XM_024450740.1:c.3257A>G, XM_017024586.2:c.3128A>G, XM_017024586.1:c.3179A>G, XM_047435923.1:c.3065A>G, NP_002199.3:p.His1048Arg, XP_011522129.2:p.His1015Arg, XP_011522130.2:p.His989Arg, XP_024306508.2:p.His1069Arg, XP_016880075.2:p.His1043Arg, XP_047291879.1:p.His1022Arg

Select item 148556850213.

rs1485568502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3759536 (GRCh38)
17:3662830 (GRCh37)
Canonical SPDI:: NC_000017.11:3759535:C:T
Gene:: ITGAE (Varview)
Functional Consequence:: synonymous_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_000017.11:g.3759536C>T, NC_000017.10:g.3662830C>T, NM_002208.5:c.732G>A, NM_002208.4:c.732G>A, XM_011523825.4:c.732G>A, XM_011523825.3:c.783G>A, XM_011523825.2:c.783G>A, XM_011523825.1:c.783G>A, XM_011523827.4:c.732G>A, XM_011523827.3:c.783G>A, XM_011523827.2:c.783G>A, XM_011523827.1:c.783G>A, XM_011523828.4:c.732G>A, XM_011523828.3:c.783G>A, XM_011523828.2:c.783G>A, XM_011523828.1:c.783G>A, XM_024450740.2:c.732G>A, XM_024450740.1:c.783G>A, XM_017024586.2:c.732G>A, XM_017024586.1:c.783G>A, XM_047435923.1:c.732G>A, XM_047435924.1:c.732G>A

Select item 148409576014.

rs1484095760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3714900 (GRCh38)
17:3618194 (GRCh37)
Canonical SPDI:: NC_000017.11:3714899:T:C
Gene:: ITGAE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3714900T>C, NC_000017.10:g.3618194T>C, NM_002208.5:c.3487A>G, NM_002208.4:c.3487A>G, XM_011523825.4:c.3454A>G, XM_011523825.3:c.3505A>G, XM_011523825.2:c.3505A>G, XM_011523825.1:c.3505A>G, XM_011523827.4:c.3388A>G, XM_011523827.3:c.3439A>G, XM_011523827.2:c.3439A>G, XM_011523827.1:c.3439A>G, XM_011523828.4:c.3310A>G, XM_011523828.3:c.3361A>G, XM_011523828.2:c.3361A>G, XM_011523828.1:c.3361A>G, XM_024450740.2:c.3550A>G, XM_024450740.1:c.3601A>G, XM_017024586.2:c.3472A>G, XM_017024586.1:c.3523A>G, XM_047435923.1:c.3409A>G, NP_002199.3:p.Ser1163Gly, XP_011522127.2:p.Ser1152Gly, XP_011522129.2:p.Ser1130Gly, XP_011522130.2:p.Ser1104Gly, XP_024306508.2:p.Ser1184Gly, XP_016880075.2:p.Ser1158Gly, XP_047291879.1:p.Ser1137Gly

Select item 148385603415.

rs1483856034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3745848 (GRCh38)
17:3649142 (GRCh37)
Canonical SPDI:: NC_000017.11:3745847:T:C
Gene:: ITGAE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.3745848T>C, NC_000017.10:g.3649142T>C, NM_002208.5:c.2235A>G, NM_002208.4:c.2235A>G, XM_011523825.4:c.2235A>G, XM_011523825.3:c.2286A>G, XM_011523825.2:c.2286A>G, XM_011523825.1:c.2286A>G, XM_011523827.4:c.2235A>G, XM_011523827.3:c.2286A>G, XM_011523827.2:c.2286A>G, XM_011523827.1:c.2286A>G, XM_011523828.4:c.2235A>G, XM_011523828.3:c.2286A>G, XM_011523828.2:c.2286A>G, XM_011523828.1:c.2286A>G, XM_024450740.2:c.2235A>G, XM_024450740.1:c.2286A>G, XM_017024586.2:c.2235A>G, XM_017024586.1:c.2286A>G, XM_047435923.1:c.2235A>G, XM_047435924.1:c.2235A>G

Select item 148300937616.

rs1483009376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:3734895 (GRCh38)
17:3638189 (GRCh37)
Canonical SPDI:: NC_000017.11:3734894:A:C
Gene:: ITGAE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_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_000017.11:g.3734895A>C, NC_000017.10:g.3638189A>C, NM_002208.5:c.2577T>G, NM_002208.4:c.2577T>G, XM_011523825.4:c.2577T>G, XM_011523825.3:c.2628T>G, XM_011523825.2:c.2628T>G, XM_011523825.1:c.2628T>G, XM_011523827.4:c.2577T>G, XM_011523827.3:c.2628T>G, XM_011523827.2:c.2628T>G, XM_011523827.1:c.2628T>G, XM_011523828.4:c.2577T>G, XM_011523828.3:c.2628T>G, XM_011523828.2:c.2628T>G, XM_011523828.1:c.2628T>G, XM_024450740.2:c.2577T>G, XM_024450740.1:c.2628T>G, XM_017024586.2:c.2577T>G, XM_017024586.1:c.2628T>G, XM_047435923.1:c.2577T>G, XM_047435924.1:c.*7T>G

Select item 148295284217.

rs1482952842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3761450 (GRCh38)
17:3664744 (GRCh37)
Canonical SPDI:: NC_000017.11:3761449:A:G
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.3761450A>G, NC_000017.10:g.3664744A>G, NM_002208.5:c.386T>C, NM_002208.4:c.386T>C, XM_011523825.4:c.386T>C, XM_011523825.3:c.437T>C, XM_011523825.2:c.437T>C, XM_011523825.1:c.437T>C, XM_011523827.4:c.386T>C, XM_011523827.3:c.437T>C, XM_011523827.2:c.437T>C, XM_011523827.1:c.437T>C, XM_011523828.4:c.386T>C, XM_011523828.3:c.437T>C, XM_011523828.2:c.437T>C, XM_011523828.1:c.437T>C, XM_024450740.2:c.386T>C, XM_024450740.1:c.437T>C, XM_017024586.2:c.386T>C, XM_017024586.1:c.437T>C, XM_047435923.1:c.386T>C, XM_047435924.1:c.386T>C, NP_002199.3:p.Leu129Pro, XP_011522127.2:p.Leu129Pro, XP_011522129.2:p.Leu129Pro, XP_011522130.2:p.Leu129Pro, XP_024306508.2:p.Leu129Pro, XP_016880075.2:p.Leu129Pro, XP_047291879.1:p.Leu129Pro, XP_047291880.1:p.Leu129Pro

Select item 148284320318.

rs1482843203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3728157 (GRCh38)
17:3631451 (GRCh37)
Canonical SPDI:: NC_000017.11:3728156:A:G
Gene:: ITGAE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3728157A>G, NC_000017.10:g.3631451A>G, NM_002208.5:c.2924T>C, NM_002208.4:c.2924T>C, XM_011523825.4:c.2987T>C, XM_011523825.3:c.3038T>C, XM_011523825.2:c.3038T>C, XM_011523825.1:c.3038T>C, XM_011523827.4:c.2825T>C, XM_011523827.3:c.2876T>C, XM_011523827.2:c.2876T>C, XM_011523827.1:c.2876T>C, XM_011523828.4:c.2747T>C, XM_011523828.3:c.2798T>C, XM_011523828.2:c.2798T>C, XM_011523828.1:c.2798T>C, XM_024450740.2:c.2987T>C, XM_024450740.1:c.3038T>C, XM_017024586.2:c.2909T>C, XM_017024586.1:c.2960T>C, XM_047435923.1:c.2846T>C, NP_002199.3:p.Met975Thr, XP_011522127.2:p.Met996Thr, XP_011522129.2:p.Met942Thr, XP_011522130.2:p.Met916Thr, XP_024306508.2:p.Met996Thr, XP_016880075.2:p.Met970Thr, XP_047291879.1:p.Met949Thr

Select item 148252567319.

rs1482525673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:3761976 (GRCh38)
17:3665270 (GRCh37)
Canonical SPDI:: NC_000017.11:3761975:A:T
Gene:: ITGAE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.3761976A>T, NC_000017.10:g.3665270A>T, NM_002208.5:c.254T>A, NM_002208.4:c.254T>A, XM_011523825.4:c.254T>A, XM_011523825.3:c.305T>A, XM_011523825.2:c.305T>A, XM_011523825.1:c.305T>A, XM_011523827.4:c.254T>A, XM_011523827.3:c.305T>A, XM_011523827.2:c.305T>A, XM_011523827.1:c.305T>A, XM_011523828.4:c.254T>A, XM_011523828.3:c.305T>A, XM_011523828.2:c.305T>A, XM_011523828.1:c.305T>A, XM_024450740.2:c.254T>A, XM_024450740.1:c.305T>A, XM_017024586.2:c.254T>A, XM_017024586.1:c.305T>A, XM_047435923.1:c.254T>A, XM_047435924.1:c.254T>A, NP_002199.3:p.Val85Asp, XP_011522127.2:p.Val85Asp, XP_011522129.2:p.Val85Asp, XP_011522130.2:p.Val85Asp, XP_024306508.2:p.Val85Asp, XP_016880075.2:p.Val85Asp, XP_047291879.1:p.Val85Asp, XP_047291880.1:p.Val85Asp

Select item 148251439720.

rs1482514397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:3728121 (GRCh38)
17:3631415 (GRCh37)
Canonical SPDI:: NC_000017.11:3728120:T:G
Gene:: ITGAE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.3728121T>G, NC_000017.10:g.3631415T>G, NM_002208.5:c.2960A>C, NM_002208.4:c.2960A>C, XM_011523825.4:c.3023A>C, XM_011523825.3:c.3074A>C, XM_011523825.2:c.3074A>C, XM_011523825.1:c.3074A>C, XM_011523827.4:c.2861A>C, XM_011523827.3:c.2912A>C, XM_011523827.2:c.2912A>C, XM_011523827.1:c.2912A>C, XM_011523828.4:c.2783A>C, XM_011523828.3:c.2834A>C, XM_011523828.2:c.2834A>C, XM_011523828.1:c.2834A>C, XM_024450740.2:c.3023A>C, XM_024450740.1:c.3074A>C, XM_017024586.2:c.2945A>C, XM_017024586.1:c.2996A>C, XM_047435923.1:c.2882A>C, NP_002199.3:p.Lys987Thr, XP_011522127.2:p.Lys1008Thr, XP_011522129.2:p.Lys954Thr, XP_011522130.2:p.Lys928Thr, XP_024306508.2:p.Lys1008Thr, XP_016880075.2:p.Lys982Thr, XP_047291879.1:p.Lys961Thr

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