SNP Links for Protein (Select 522838244) - SNP - NCBI

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Links from Protein

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Select item 14888598011.

rs1488859801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:134370888 (GRCh38)
3:134089730 (GRCh37)
Canonical SPDI:: NC_000003.12:134370887:G:A
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.134370888G>A, NC_000003.11:g.134089730G>A, NM_016201.4:c.546C>T, NM_016201.3:c.546C>T, NM_001278685.2:c.546C>T, NM_001278685.1:c.546C>T, NM_001363943.2:c.546C>T, NM_001363943.1:c.546C>T, NM_001278683.1:c.720C>T

Select item 14888268152.

rs1488826815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:134371396 (GRCh38)
3:134090238 (GRCh37)
Canonical SPDI:: NC_000003.12:134371395:T:C,NC_000003.12:134371395:T:G
Gene:: AMOTL2 (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)
G=0.007104/13 (Korea1K)
HGVS:: NC_000003.12:g.134371396T>C, NC_000003.12:g.134371396T>G, NC_000003.11:g.134090238T>C, NC_000003.11:g.134090238T>G, NM_016201.4:c.38A>G, NM_016201.4:c.38A>C, NM_016201.3:c.38A>G, NM_016201.3:c.38A>C, NM_001278685.2:c.38A>G, NM_001278685.2:c.38A>C, NM_001278685.1:c.38A>G, NM_001278685.1:c.38A>C, NM_001363943.2:c.38A>G, NM_001363943.2:c.38A>C, NM_001363943.1:c.38A>G, NM_001363943.1:c.38A>C, NM_001278683.1:c.212A>G, NM_001278683.1:c.212A>C, NP_057285.3:p.His13Arg, NP_057285.3:p.His13Pro, NP_001265614.1:p.His13Arg, NP_001265614.1:p.His13Pro, NP_001350872.1:p.His13Arg, NP_001350872.1:p.His13Pro, NP_001265612.1:p.His71Arg, NP_001265612.1:p.His71Pro

Select item 14873513643.

rs1487351364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:134361693 (GRCh38)
3:134080535 (GRCh37)
Canonical SPDI:: NC_000003.12:134361692:G:A,NC_000003.12:134361692:G:T
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134361693G>A, NC_000003.12:g.134361693G>T, NC_000003.11:g.134080535G>A, NC_000003.11:g.134080535G>T, NG_077318.1:g.447G>A, NG_077318.1:g.447G>T, NM_016201.4:c.1394C>T, NM_016201.4:c.1394C>A, NM_016201.3:c.1394C>T, NM_016201.3:c.1394C>A, NM_001278685.2:c.1394C>T, NM_001278685.2:c.1394C>A, NM_001278685.1:c.1394C>T, NM_001278685.1:c.1394C>A, NM_001363943.2:c.1394C>T, NM_001363943.2:c.1394C>A, NM_001363943.1:c.1394C>T, NM_001363943.1:c.1394C>A, NM_001278683.1:c.1568C>T, NM_001278683.1:c.1568C>A, NP_057285.3:p.Ala465Val, NP_057285.3:p.Ala465Glu, NP_001265614.1:p.Ala465Val, NP_001265614.1:p.Ala465Glu, NP_001350872.1:p.Ala465Val, NP_001350872.1:p.Ala465Glu, NP_001265612.1:p.Ala523Val, NP_001265612.1:p.Ala523Glu

Select item 14867943384.

rs1486794338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:134370881 (GRCh38)
3:134089723 (GRCh37)
Canonical SPDI:: NC_000003.12:134370880:G:A
Gene:: AMOTL2 (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_000003.12:g.134370881G>A, NC_000003.11:g.134089723G>A, NM_016201.4:c.553C>T, NM_016201.3:c.553C>T, NM_001278685.2:c.553C>T, NM_001278685.1:c.553C>T, NM_001363943.2:c.553C>T, NM_001363943.1:c.553C>T, NM_001278683.1:c.727C>T, NP_057285.3:p.Pro185Ser, NP_001265614.1:p.Pro185Ser, NP_001350872.1:p.Pro185Ser, NP_001265612.1:p.Pro243Ser

Select item 14866782205.

rs1486678220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:134361632 (GRCh38)
3:134080474 (GRCh37)
Canonical SPDI:: NC_000003.12:134361631:T:G
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.134361632T>G, NC_000003.11:g.134080474T>G, NG_077318.1:g.386T>G, NM_016201.4:c.1455A>C, NM_016201.3:c.1455A>C, NM_001278685.2:c.1455A>C, NM_001278685.1:c.1455A>C, NM_001363943.2:c.1455A>C, NM_001363943.1:c.1455A>C, NM_001278683.1:c.1629A>C, NP_057285.3:p.Lys485Asn, NP_001265614.1:p.Lys485Asn, NP_001350872.1:p.Lys485Asn, NP_001265612.1:p.Lys543Asn

Select item 14841864496.

rs1484186449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:134370929 (GRCh38)
3:134089771 (GRCh37)
Canonical SPDI:: NC_000003.12:134370928:T:A
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134370929T>A, NC_000003.11:g.134089771T>A, NM_016201.4:c.505A>T, NM_016201.3:c.505A>T, NM_001278685.2:c.505A>T, NM_001278685.1:c.505A>T, NM_001363943.2:c.505A>T, NM_001363943.1:c.505A>T, NM_001278683.1:c.679A>T, NP_057285.3:p.Arg169Trp, NP_001265614.1:p.Arg169Trp, NP_001350872.1:p.Arg169Trp, NP_001265612.1:p.Arg227Trp

Select item 14832471577.

rs1483247157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:134361551 (GRCh38)
3:134080393 (GRCh37)
Canonical SPDI:: NC_000003.12:134361550:A:T
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.134361551A>T, NC_000003.11:g.134080393A>T, NG_077318.1:g.305A>T, NM_016201.4:c.1536T>A, NM_016201.3:c.1536T>A, NM_001278685.2:c.1536T>A, NM_001278685.1:c.1536T>A, NM_001363943.2:c.1536T>A, NM_001363943.1:c.1536T>A, NM_001278683.1:c.1710T>A

Select item 14818927088.

rs1481892708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:134371181 (GRCh38)
3:134090023 (GRCh37)
Canonical SPDI:: NC_000003.12:134371180:G:A
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134371181G>A, NC_000003.11:g.134090023G>A, NM_016201.4:c.253C>T, NM_016201.3:c.253C>T, NM_001278685.2:c.253C>T, NM_001278685.1:c.253C>T, NM_001363943.2:c.253C>T, NM_001363943.1:c.253C>T, NM_001278683.1:c.427C>T, NP_057285.3:p.His85Tyr, NP_001265614.1:p.His85Tyr, NP_001350872.1:p.His85Tyr, NP_001265612.1:p.His143Tyr

Select item 14809626539.

rs1480962653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:134371425 (GRCh38)
3:134090267 (GRCh37)
Canonical SPDI:: NC_000003.12:134371424:T:C
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.134371425T>C, NC_000003.11:g.134090267T>C, NM_016201.4:c.9A>G, NM_016201.3:c.9A>G, NM_001278685.2:c.9A>G, NM_001278685.1:c.9A>G, NM_001363943.2:c.9A>G, NM_001363943.1:c.9A>G, NM_001278683.1:c.183A>G

Select item 147927044210.

rs1479270442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:134360369 (GRCh38)
3:134079211 (GRCh37)
Canonical SPDI:: NC_000003.12:134360368:A:C
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134360369A>C, NC_000003.11:g.134079211A>C, NM_016201.4:c.1620T>G, NM_016201.3:c.1620T>G, NM_001278685.2:c.1614T>G, NM_001278685.1:c.1614T>G, NM_001363943.2:c.1620T>G, NM_001363943.1:c.1620T>G, NM_001278683.1:c.1794T>G

Select item 147919919411.

rs1479199194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:134358708 (GRCh38)
3:134077550 (GRCh37)
Canonical SPDI:: NC_000003.12:134358707:G:T
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134358708G>T, NC_000003.11:g.134077550G>T, NM_016201.4:c.2116C>A, NM_016201.3:c.2116C>A, NM_001278685.2:c.2107C>A, NM_001278685.1:c.2107C>A, NM_001363943.2:c.2113C>A, NM_001363943.1:c.2113C>A, NM_001278683.1:c.2287C>A, NP_057285.3:p.Pro706Thr, NP_001265614.1:p.Pro703Thr, NP_001350872.1:p.Pro705Thr, NP_001265612.1:p.Pro763Thr

Select item 147882862212.

rs1478828622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:134371058 (GRCh38)
3:134089900 (GRCh37)
Canonical SPDI:: NC_000003.12:134371057:G:A,NC_000003.12:134371057:G:T
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.134371058G>A, NC_000003.12:g.134371058G>T, NC_000003.11:g.134089900G>A, NC_000003.11:g.134089900G>T, NM_016201.4:c.376C>T, NM_016201.4:c.376C>A, NM_016201.3:c.376C>T, NM_016201.3:c.376C>A, NM_001278685.2:c.376C>T, NM_001278685.2:c.376C>A, NM_001278685.1:c.376C>T, NM_001278685.1:c.376C>A, NM_001363943.2:c.376C>T, NM_001363943.2:c.376C>A, NM_001363943.1:c.376C>T, NM_001363943.1:c.376C>A, NM_001278683.1:c.550C>T, NM_001278683.1:c.550C>A, NP_057285.3:p.Pro126Ser, NP_057285.3:p.Pro126Thr, NP_001265614.1:p.Pro126Ser, NP_001265614.1:p.Pro126Thr, NP_001350872.1:p.Pro126Ser, NP_001350872.1:p.Pro126Thr, NP_001265612.1:p.Pro184Ser, NP_001265612.1:p.Pro184Thr

Select item 147591248813.

rs1475912488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:134360296 (GRCh38)
3:134079138 (GRCh37)
Canonical SPDI:: NC_000003.12:134360295:C:T
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.134360296C>T, NC_000003.11:g.134079138C>T, NM_016201.4:c.1693G>A, NM_016201.3:c.1693G>A, NM_001278685.2:c.1687G>A, NM_001278685.1:c.1687G>A, NM_001363943.2:c.1693G>A, NM_001363943.1:c.1693G>A, NM_001278683.1:c.1867G>A, NP_057285.3:p.Asp565Asn, NP_001265614.1:p.Asp563Asn, NP_001350872.1:p.Asp565Asn, NP_001265612.1:p.Asp623Asn

Select item 147539936914.

rs1475399369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:134371008 (GRCh38)
3:134089850 (GRCh37)
Canonical SPDI:: NC_000003.12:134371007:C:A
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.134371008C>A, NC_000003.11:g.134089850C>A, NM_016201.4:c.426G>T, NM_016201.3:c.426G>T, NM_001278685.2:c.426G>T, NM_001278685.1:c.426G>T, NM_001363943.2:c.426G>T, NM_001363943.1:c.426G>T, NM_001278683.1:c.600G>T, NP_057285.3:p.Arg142Ser, NP_001265614.1:p.Arg142Ser, NP_001350872.1:p.Arg142Ser, NP_001265612.1:p.Arg200Ser

Select item 147531130315.

rs1475311303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:134361561 (GRCh38)
3:134080403 (GRCh37)
Canonical SPDI:: NC_000003.12:134361560:C:T
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.134361561C>T, NC_000003.11:g.134080403C>T, NG_077318.1:g.315C>T, NM_016201.4:c.1526G>A, NM_016201.3:c.1526G>A, NM_001278685.2:c.1526G>A, NM_001278685.1:c.1526G>A, NM_001363943.2:c.1526G>A, NM_001363943.1:c.1526G>A, NM_001278683.1:c.1700G>A, NP_057285.3:p.Arg509His, NP_001265614.1:p.Arg509His, NP_001350872.1:p.Arg509His, NP_001265612.1:p.Arg567His

Select item 147442965316.

rs1474429653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:134367527 (GRCh38)
3:134086369 (GRCh37)
Canonical SPDI:: NC_000003.12:134367526:G:A
Gene:: AMOTL2 (Varview), MIR6827 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.134367527G>A, NC_000003.11:g.134086369G>A, NM_016201.4:c.1011C>T, NM_016201.3:c.1011C>T, NM_001278685.2:c.1011C>T, NM_001278685.1:c.1011C>T, NM_001363943.2:c.1011C>T, NM_001363943.1:c.1011C>T, NM_001278683.1:c.1185C>T

Select item 147437901517.

rs1474379015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:134361765 (GRCh38)
3:134080607 (GRCh37)
Canonical SPDI:: NC_000003.12:134361764:A:G
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.134361765A>G, NC_000003.11:g.134080607A>G, NM_016201.4:c.1322T>C, NM_016201.3:c.1322T>C, NM_001278685.2:c.1322T>C, NM_001278685.1:c.1322T>C, NM_001363943.2:c.1322T>C, NM_001363943.1:c.1322T>C, NM_001278683.1:c.1496T>C, NP_057285.3:p.Met441Thr, NP_001265614.1:p.Met441Thr, NP_001350872.1:p.Met441Thr, NP_001265612.1:p.Met499Thr

Select item 147380827618.

rs1473808276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:134371212 (GRCh38)
3:134090054 (GRCh37)
Canonical SPDI:: NC_000003.12:134371211:G:A
Gene:: AMOTL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134371212G>A, NC_000003.11:g.134090054G>A, NM_016201.4:c.222C>T, NM_016201.3:c.222C>T, NM_001278685.2:c.222C>T, NM_001278685.1:c.222C>T, NM_001363943.2:c.222C>T, NM_001363943.1:c.222C>T, NM_001278683.1:c.396C>T

Select item 147214899019.

rs1472148990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:134360292 (GRCh38)
3:134079134 (GRCh37)
Canonical SPDI:: NC_000003.12:134360291:A:G
Gene:: AMOTL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.134360292A>G, NC_000003.11:g.134079134A>G, NM_016201.4:c.1697T>C, NM_016201.3:c.1697T>C, NM_001278685.2:c.1691T>C, NM_001278685.1:c.1691T>C, NM_001363943.2:c.1697T>C, NM_001363943.1:c.1697T>C, NM_001278683.1:c.1871T>C, NP_057285.3:p.Met566Thr, NP_001265614.1:p.Met564Thr, NP_001350872.1:p.Met566Thr, NP_001265612.1:p.Met624Thr

Select item 147182007820.

rs1471820078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:134360198 (GRCh38)
3:134079040 (GRCh37)
Canonical SPDI:: NC_000003.12:134360197:A:G
Gene:: AMOTL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.134360198A>G, NC_000003.11:g.134079040A>G, NM_016201.4:c.1791T>C, NM_016201.3:c.1791T>C, NM_001278685.2:c.1785T>C, NM_001278685.1:c.1785T>C, NM_001363943.2:c.1791T>C, NM_001363943.1:c.1791T>C, NM_001278683.1:c.1965T>C

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