SNP Links for Protein (Select 4502271) - SNP

Links from Protein

Items: 1 to 20 of 754

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Select item 14909986651.

rs1490998665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160129302 (GRCh38)
1:160099092 (GRCh37)
Canonical SPDI:: NC_000001.11:160129301:C:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160129302C>A, NC_000001.10:g.160099092C>A, NG_008014.1:g.18545C>A, NM_000702.4:c.1363C>A, NM_000702.3:c.1363C>A, XM_047421286.1:c.472C>A, NP_000693.1:p.Leu455Ile, XP_047277242.1:p.Leu158Ile

Select item 14888615252.

rs1488861525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160123380 (GRCh38)
1:160093170 (GRCh37)
Canonical SPDI:: NC_000001.11:160123379:C:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160123380C>T, NC_000001.10:g.160093170C>T, NG_008014.1:g.12623C>T, NM_000702.4:c.345C>T, NM_000702.3:c.345C>T

Select item 14865656973.

rs1486565697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160129012 (GRCh38)
1:160098802 (GRCh37)
Canonical SPDI:: NC_000001.11:160129011:A:G
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160129012A>G, NC_000001.10:g.160098802A>G, NG_008014.1:g.18255A>G, NM_000702.4:c.1249A>G, NM_000702.3:c.1249A>G, XM_047421286.1:c.358A>G, NP_000693.1:p.Thr417Ala, XP_047277242.1:p.Thr120Ala

Select item 14837524294.

rs1483752429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160135521 (GRCh38)
1:160105311 (GRCh37)
Canonical SPDI:: NC_000001.11:160135520:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160135521G>A, NC_000001.10:g.160105311G>A, NG_008014.1:g.24764G>A, NM_000702.4:c.2203G>A, NM_000702.3:c.2203G>A, XM_047421286.1:c.1312G>A, NP_000693.1:p.Gly735Ser, XP_047277242.1:p.Gly438Ser

Select item 14833667415.

rs1483366741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160135170 (GRCh38)
1:160104960 (GRCh37)
Canonical SPDI:: NC_000001.11:160135169:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160135170G>A, NC_000001.10:g.160104960G>A, NG_008014.1:g.24413G>A, NM_000702.4:c.1990G>A, NM_000702.3:c.1990G>A, XM_047421286.1:c.1099G>A, NP_000693.1:p.Gly664Ser, XP_047277242.1:p.Gly367Ser

Select item 14830056456.

rs1483005645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:160136918 (GRCh38)
1:160106708 (GRCh37)
Canonical SPDI:: NC_000001.11:160136917:G:A,NC_000001.11:160136917:G:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160136918G>A, NC_000001.11:g.160136918G>T, NC_000001.10:g.160106708G>A, NC_000001.10:g.160106708G>T, NG_008014.1:g.26161G>A, NG_008014.1:g.26161G>T, NM_000702.4:c.2727G>A, NM_000702.4:c.2727G>T, NM_000702.3:c.2727G>A, NM_000702.3:c.2727G>T, XM_047421286.1:c.1836G>A, XM_047421286.1:c.1836G>T, NP_000693.1:p.Lys909Asn, XP_047277242.1:p.Lys612Asn

Select item 14822648197.

rs1482264819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160121219 (GRCh38)
1:160091009 (GRCh37)
Canonical SPDI:: NC_000001.11:160121218:C:G
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160121219C>G, NC_000001.10:g.160091009C>G, NG_008014.1:g.10462C>G, NM_000702.4:c.145C>G, NM_000702.3:c.145C>G, NP_000693.1:p.Leu49Val

Select item 14806343948.

rs1480634394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160139954 (GRCh38)
1:160109744 (GRCh37)
Canonical SPDI:: NC_000001.11:160139953:C:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000001.11:g.160139954C>T, NC_000001.10:g.160109744C>T, NG_008014.1:g.29197C>T, NM_000702.4:c.3004C>T, NM_000702.3:c.3004C>T, XM_047421286.1:c.2113C>T, NP_000693.1:p.Arg1002Ter, XP_047277242.1:p.Arg705Ter

Select item 14763167369.

rs1476316736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160127646 (GRCh38)
1:160097436 (GRCh37)
Canonical SPDI:: NC_000001.11:160127645:C:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160127646C>A, NC_000001.10:g.160097436C>A, NG_008014.1:g.16889C>A, NM_000702.4:c.843C>A, NM_000702.3:c.843C>A

Select item 147259613710.

rs1472596137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160136277 (GRCh38)
1:160106067 (GRCh37)
Canonical SPDI:: NC_000001.11:160136276:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160136277G>A, NC_000001.10:g.160106067G>A, NG_008014.1:g.25520G>A, NM_000702.4:c.2470G>A, NM_000702.3:c.2470G>A, XM_047421286.1:c.1579G>A, NP_000693.1:p.Ala824Thr, XP_047277242.1:p.Ala527Thr

Select item 146990266711.

rs1469902667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:160130580 (GRCh38)
1:160100370 (GRCh37)
Canonical SPDI:: NC_000001.11:160130579:C:A,NC_000001.11:160130579:C:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160130580C>A, NC_000001.11:g.160130580C>T, NC_000001.10:g.160100370C>A, NC_000001.10:g.160100370C>T, NG_008014.1:g.19823C>A, NG_008014.1:g.19823C>T, NM_000702.4:c.1810C>A, NM_000702.4:c.1810C>T, NM_000702.3:c.1810C>A, NM_000702.3:c.1810C>T, XM_047421286.1:c.919C>A, XM_047421286.1:c.919C>T, NP_000693.1:p.Arg604Ter, XP_047277242.1:p.Arg307Ter

Select item 146962397412.

rs1469623974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160120915 (GRCh38)
1:160090705 (GRCh37)
Canonical SPDI:: NC_000001.11:160120914:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.160120915G>A, NC_000001.10:g.160090705G>A, NG_008014.1:g.10158G>A, NM_000702.4:c.22G>A, NM_000702.3:c.22G>A, NP_000693.1:p.Glu8Lys

Select item 146777628113.

rs1467776281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160123269 (GRCh38)
1:160093059 (GRCh37)
Canonical SPDI:: NC_000001.11:160123268:C:G
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160123269C>G, NC_000001.10:g.160093059C>G, NG_008014.1:g.12512C>G, NM_000702.4:c.234C>G, NM_000702.3:c.234C>G

Select item 146654677814.

rs1466546778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160124377 (GRCh38)
1:160094167 (GRCh37)
Canonical SPDI:: NC_000001.11:160124376:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.160124377G>A, NC_000001.10:g.160094167G>A, NG_008014.1:g.13620G>A, NM_000702.4:c.577G>A, NM_000702.3:c.577G>A, NG_082214.1:g.281G>A, NP_000693.1:p.Gly193Ser

Select item 146607517515.

rs1466075175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:160134552 (GRCh38)
1:160104342 (GRCh37)
Canonical SPDI:: NC_000001.11:160134551:A:C
Gene:: ATP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.160134552A>C, NC_000001.10:g.160104342A>C, NG_008014.1:g.23795A>C, NM_000702.4:c.1896A>C, NM_000702.3:c.1896A>C, XM_047421286.1:c.1005A>C

Select item 146455473716.

rs1464554737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160136939 (GRCh38)
1:160106729 (GRCh37)
Canonical SPDI:: NC_000001.11:160136938:C:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.160136939C>A, NC_000001.10:g.160106729C>A, NG_008014.1:g.26182C>A, NM_000702.4:c.2748C>A, NM_000702.3:c.2748C>A, XM_047421286.1:c.1857C>A, NP_000693.1:p.His916Gln, XP_047277242.1:p.His619Gln

Select item 146329909817.

rs1463299098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160136657 (GRCh38)
1:160106447 (GRCh37)
Canonical SPDI:: NC_000001.11:160136656:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160136657G>A, NC_000001.10:g.160106447G>A, NG_008014.1:g.25900G>A, NM_000702.4:c.2651G>A, NM_000702.3:c.2651G>A, XM_047421286.1:c.1760G>A, NP_000693.1:p.Arg884His, XP_047277242.1:p.Arg587His

Select item 146293076918.

rs1462930769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:160128768 (GRCh38)
1:160098558 (GRCh37)
Canonical SPDI:: NC_000001.11:160128767:C:G,NC_000001.11:160128767:C:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.160128768C>G, NC_000001.11:g.160128768C>T, NC_000001.10:g.160098558C>G, NC_000001.10:g.160098558C>T, NG_008014.1:g.18011C>G, NG_008014.1:g.18011C>T, NM_000702.4:c.1134C>G, NM_000702.4:c.1134C>T, NM_000702.3:c.1134C>G, NM_000702.3:c.1134C>T, XM_047421286.1:c.243C>G, XM_047421286.1:c.243C>T

Select item 146186092919.

rs1461860929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:160135839 (GRCh38)
1:160105629 (GRCh37)
Canonical SPDI:: NC_000001.11:160135838:G:C,NC_000001.11:160135838:G:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
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.160135839G>C, NC_000001.11:g.160135839G>T, NC_000001.10:g.160105629G>C, NC_000001.10:g.160105629G>T, NG_008014.1:g.25082G>C, NG_008014.1:g.25082G>T, NM_000702.4:c.2285G>C, NM_000702.4:c.2285G>T, NM_000702.3:c.2285G>C, NM_000702.3:c.2285G>T, XM_047421286.1:c.1394G>C, XM_047421286.1:c.1394G>T, NP_000693.1:p.Gly762Ala, NP_000693.1:p.Gly762Val, XP_047277242.1:p.Gly465Ala, XP_047277242.1:p.Gly465Val

Select item 145961657420.

rs1459616574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160128802 (GRCh38)
1:160098592 (GRCh37)
Canonical SPDI:: NC_000001.11:160128801:T:C
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_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_000001.11:g.160128802T>C, NC_000001.10:g.160098592T>C, NG_008014.1:g.18045T>C, NM_000702.4:c.1168T>C, NM_000702.3:c.1168T>C, XM_047421286.1:c.277T>C, NP_000693.1:p.Trp390Arg, XP_047277242.1:p.Trp93Arg

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