SNP Links for Protein (Select 187608816) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:39025594 (GRCh38)
22:39421599 (GRCh37)
Canonical SPDI:: NC_000022.11:39025593:A:G
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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.39025594A>G, NC_000022.10:g.39421599A>G, NM_152426.4:c.528A>G, NM_152426.3:c.528A>G, XM_017028596.3:c.735A>G, XM_017028596.2:c.735A>G, XM_017028596.1:c.735A>G, XM_047441142.1:c.528A>G

Select item 14850057576.

rs1485005757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:39032304 (GRCh38)
22:39428309 (GRCh37)
Canonical SPDI:: NC_000022.11:39032303:G:C
Gene:: APOBEC3D (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39032304G>C, NC_000022.10:g.39428309G>C, NM_152426.4:c.1149G>C, NM_152426.3:c.1149G>C, XM_017028596.3:c.1356G>C, XM_017028596.2:c.1356G>C, XM_017028596.1:c.1356G>C, NM_001363781.1:c.597G>C, NP_689639.2:p.Glu383Asp, XP_016884085.1:p.Glu452Asp, NP_001350710.1:p.Glu199Asp

Select item 14846482217.

rs1484648221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39022919 (GRCh38)
22:39418924 (GRCh37)
Canonical SPDI:: NC_000022.11:39022918:G:A
Gene:: APOBEC3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39022919G>A, NC_000022.10:g.39418924G>A, NM_152426.4:c.115G>A, NM_152426.3:c.115G>A, XM_017028596.3:c.115G>A, XM_017028596.2:c.115G>A, XM_017028596.1:c.115G>A, NM_001363781.1:c.115G>A, XM_047441142.1:c.115G>A, NP_689639.2:p.Val39Met, XP_016884085.1:p.Val39Met, NP_001350710.1:p.Val39Met, XP_047297098.1:p.Val39Met

Select item 14826093098.

rs1482609309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:39025194 (GRCh38)
22:39421199 (GRCh37)
Canonical SPDI:: NC_000022.11:39025193:G:C
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39025194G>C, NC_000022.10:g.39421199G>C, NM_152426.4:c.335G>C, NM_152426.3:c.335G>C, XM_017028596.3:c.335G>C, XM_017028596.2:c.335G>C, XM_017028596.1:c.335G>C, XM_047441142.1:c.335G>C, NP_689639.2:p.Cys112Ser, XP_016884085.1:p.Cys112Ser, XP_047297098.1:p.Cys112Ser

Select item 14755952429.

rs1475595242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39031878 (GRCh38)
22:39427883 (GRCh37)
Canonical SPDI:: NC_000022.11:39031877:C:T
Gene:: APOBEC3D (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_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_000022.11:g.39031878C>T, NC_000022.10:g.39427883C>T, NM_152426.4:c.947C>T, NM_152426.3:c.947C>T, XM_017028596.3:c.1154C>T, XM_017028596.2:c.1154C>T, XM_017028596.1:c.1154C>T, NM_001363781.1:c.395C>T, XM_047441142.1:c.*16C>T, NP_689639.2:p.Thr316Ile, XP_016884085.1:p.Thr385Ile, NP_001350710.1:p.Thr132Ile

Select item 147295460310.

rs1472954603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39031841 (GRCh38)
22:39427846 (GRCh37)
Canonical SPDI:: NC_000022.11:39031840:C:T
Gene:: APOBEC3D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39031841C>T, NC_000022.10:g.39427846C>T, NM_152426.4:c.910C>T, NM_152426.3:c.910C>T, XM_017028596.3:c.1117C>T, XM_017028596.2:c.1117C>T, XM_017028596.1:c.1117C>T, NM_001363781.1:c.358C>T, XM_047441142.1:c.753C>T

Select item 147057885411.

rs1470578854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39022937 (GRCh38)
22:39418942 (GRCh37)
Canonical SPDI:: NC_000022.11:39022936:C:T
Gene:: APOBEC3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39022937C>T, NC_000022.10:g.39418942C>T, NM_152426.4:c.133C>T, NM_152426.3:c.133C>T, XM_017028596.3:c.133C>T, XM_017028596.2:c.133C>T, XM_017028596.1:c.133C>T, NM_001363781.1:c.133C>T, XM_047441142.1:c.133C>T, NP_689639.2:p.Arg45Cys, XP_016884085.1:p.Arg45Cys, NP_001350710.1:p.Arg45Cys, XP_047297098.1:p.Arg45Cys

Select item 146834863212.

rs1468348632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39025134 (GRCh38)
22:39421139 (GRCh37)
Canonical SPDI:: NC_000022.11:39025133:T:C
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39025134T>C, NC_000022.10:g.39421139T>C, NM_152426.4:c.275T>C, NM_152426.3:c.275T>C, XM_017028596.3:c.275T>C, XM_017028596.2:c.275T>C, XM_017028596.1:c.275T>C, XM_047441142.1:c.275T>C, NP_689639.2:p.Leu92Pro, XP_016884085.1:p.Leu92Pro, XP_047297098.1:p.Leu92Pro

Select item 146629544313.

rs1466295443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:39031787 (GRCh38)
22:39427792 (GRCh37)
Canonical SPDI:: NC_000022.11:39031786:T:G
Gene:: APOBEC3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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.39031787T>G, NC_000022.10:g.39427792T>G, NM_152426.4:c.856T>G, NM_152426.3:c.856T>G, XM_017028596.3:c.1063T>G, XM_017028596.2:c.1063T>G, XM_017028596.1:c.1063T>G, NM_001363781.1:c.304T>G, XM_047441142.1:c.699T>G, NP_689639.2:p.Trp286Gly, XP_016884085.1:p.Trp355Gly, NP_001350710.1:p.Trp102Gly

Select item 146289766014.

rs1462897660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:39031945 (GRCh38)
22:39427950 (GRCh37)
Canonical SPDI:: NC_000022.11:39031944:G:A,NC_000022.11:39031944:G:T
Gene:: APOBEC3D (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39031945G>A, NC_000022.11:g.39031945G>T, NC_000022.10:g.39427950G>A, NC_000022.10:g.39427950G>T, NM_152426.4:c.1014G>A, NM_152426.4:c.1014G>T, NM_152426.3:c.1014G>A, NM_152426.3:c.1014G>T, XM_017028596.3:c.1221G>A, XM_017028596.3:c.1221G>T, XM_017028596.2:c.1221G>A, XM_017028596.2:c.1221G>T, XM_017028596.1:c.1221G>A, XM_017028596.1:c.1221G>T, NM_001363781.1:c.462G>A, NM_001363781.1:c.462G>T, XM_047441142.1:c.*83G>A, XM_047441142.1:c.*83G>T

Select item 146162026415.

rs1461620264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:39025574 (GRCh38)
22:39421579 (GRCh37)
Canonical SPDI:: NC_000022.11:39025573:G:C
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39025574G>C, NC_000022.10:g.39421579G>C, NM_152426.4:c.508G>C, NM_152426.3:c.508G>C, XM_017028596.3:c.715G>C, XM_017028596.2:c.715G>C, XM_017028596.1:c.715G>C, XM_047441142.1:c.508G>C, NP_689639.2:p.Glu170Gln, XP_016884085.1:p.Glu239Gln, XP_047297098.1:p.Glu170Gln

Select item 146054667116.

rs1460546671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:39025263 (GRCh38)
22:39421268 (GRCh37)
Canonical SPDI:: NC_000022.11:39025262:T:G
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39025263T>G, NC_000022.10:g.39421268T>G, NM_152426.4:c.404T>G, NM_152426.3:c.404T>G, XM_017028596.3:c.404T>G, XM_017028596.2:c.404T>G, XM_017028596.1:c.404T>G, XM_047441142.1:c.404T>G, NP_689639.2:p.Leu135Arg, XP_016884085.1:p.Leu135Arg, XP_047297098.1:p.Leu135Arg

Select item 145985592717.

rs1459855927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39032222 (GRCh38)
22:39428227 (GRCh37)
Canonical SPDI:: NC_000022.11:39032221:T:C
Gene:: APOBEC3D (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39032222T>C, NC_000022.10:g.39428227T>C, NM_152426.4:c.1067T>C, NM_152426.3:c.1067T>C, XM_017028596.3:c.1274T>C, XM_017028596.2:c.1274T>C, XM_017028596.1:c.1274T>C, NM_001363781.1:c.515T>C, NP_689639.2:p.Phe356Ser, XP_016884085.1:p.Phe425Ser, NP_001350710.1:p.Phe172Ser

Select item 145797373818.

rs1457973738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39025645 (GRCh38)
22:39421650 (GRCh37)
Canonical SPDI:: NC_000022.11:39025644:G:A
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39025645G>A, NC_000022.10:g.39421650G>A, NM_152426.4:c.579G>A, NM_152426.3:c.579G>A, XM_017028596.3:c.786G>A, XM_017028596.2:c.786G>A, XM_017028596.1:c.786G>A, XM_047441142.1:c.579G>A

Select item 145488352619.

rs1454883526 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 22:39022869 (GRCh38)
22:39418874 (GRCh37)
Canonical SPDI:: NC_000022.11:39022868:AAAA:AAA
Gene:: APOBEC3D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39022872del, NC_000022.10:g.39418877del, NM_152426.4:c.68del, NM_152426.3:c.68del, XM_017028596.3:c.68del, XM_017028596.2:c.68del, XM_017028596.1:c.68del, NM_001363781.1:c.68del, XM_047441142.1:c.68del, NP_689639.2:p.Asn23fs, XP_016884085.1:p.Asn23fs, NP_001350710.1:p.Asn23fs, XP_047297098.1:p.Asn23fs

Select item 144922438020.

rs1449224380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39025611 (GRCh38)
22:39421616 (GRCh37)
Canonical SPDI:: NC_000022.11:39025610:C:T
Gene:: APOBEC3D (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.39025611C>T, NC_000022.10:g.39421616C>T, NM_152426.4:c.545C>T, NM_152426.3:c.545C>T, XM_017028596.3:c.752C>T, XM_017028596.2:c.752C>T, XM_017028596.1:c.752C>T, XM_047441142.1:c.545C>T, NP_689639.2:p.Pro182Leu, XP_016884085.1:p.Pro251Leu, XP_047297098.1:p.Pro182Leu

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