SNP Links for Protein (Select 4506061) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 260

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Select item 14894521391.

rs1489452139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:49005478 (GRCh38)
12:49399261 (GRCh37)
Canonical SPDI:: NC_000012.12:49005477:C:A
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49005478C>A, NC_000012.11:g.49399261C>A, NM_002733.5:c.234G>T, NM_002733.4:c.234G>T, XM_011538562.3:c.138G>T, XM_011538562.2:c.138G>T, XM_011538562.1:c.138G>T, XM_005269020.3:c.-19G>T, XM_005269020.2:c.-19G>T, XM_005269020.1:c.-19G>T, NM_001206710.2:c.138G>T, NM_001206710.1:c.138G>T, NM_001206709.2:c.234G>T, NM_001206709.1:c.234G>T, XM_047429136.1:c.81G>T, NM_212461.1:c.-19G>T, NP_002724.1:p.Lys78Asn, XP_011536864.1:p.Lys46Asn, NP_001193639.1:p.Lys46Asn, NP_001193638.1:p.Lys78Asn, XP_047285092.1:p.Lys27Asn

Select item 14887638002.

rs1488763800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:49002921 (GRCh38)
12:49396704 (GRCh37)
Canonical SPDI:: NC_000012.12:49002920:G:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49002921G>C, NC_000012.11:g.49396704G>C, NM_002733.5:c.974C>G, NM_002733.4:c.974C>G, XM_011538562.3:c.878C>G, XM_011538562.2:c.878C>G, XM_011538562.1:c.878C>G, XM_005269020.3:c.722C>G, XM_005269020.2:c.722C>G, XM_005269020.1:c.722C>G, NM_001206710.2:c.878C>G, NM_001206710.1:c.878C>G, NM_001206709.2:c.1001C>G, NM_001206709.1:c.1001C>G, XM_047429136.1:c.821C>G, NM_212461.1:c.722C>G, NP_002724.1:p.Thr325Arg, XP_011536864.1:p.Thr293Arg, XP_005269077.1:p.Thr241Arg, NP_001193639.1:p.Thr293Arg, NP_001193638.1:p.Thr334Arg, XP_047285092.1:p.Thr274Arg

Select item 14825102043.

rs1482510204 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:49013098 (GRCh38)
12:49406881 (GRCh37)
Canonical SPDI:: NC_000012.12:49013097:C:
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49013098del, NC_000012.11:g.49406881del, NM_002733.5:c.22del, NM_002733.4:c.22del, XM_011538562.3:c.-249del, XM_011538562.2:c.-249del, XM_011538562.1:c.-249del, NM_001206710.2:c.-75del, NM_001206710.1:c.-75del, NM_001206709.2:c.22del, NM_001206709.1:c.22del, XM_047429136.1:c.-22del, NM_212461.1:c.-280del, NP_002724.1:p.Asp8fs, NP_001193638.1:p.Asp8fs

Select item 14763580694.

rs1476358069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:49013105 (GRCh38)
12:49406888 (GRCh37)
Canonical SPDI:: NC_000012.12:49013104:A:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49013105A>C, NC_000012.11:g.49406888A>C, NM_002733.5:c.15T>G, NM_002733.4:c.15T>G, XM_011538562.3:c.-256T>G, XM_011538562.2:c.-256T>G, XM_011538562.1:c.-256T>G, NM_001206710.2:c.-82T>G, NM_001206710.1:c.-82T>G, NM_001206709.2:c.15T>G, NM_001206709.1:c.15T>G, XM_047429136.1:c.-29T>G, NM_212461.1:c.-287T>G, NP_002724.1:p.Ile5Met, NP_001193638.1:p.Ile5Met

Select item 14757893115.

rs1475789311 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 12:49003181 (GRCh38)
12:49396965 (GRCh37)
Canonical SPDI:: NC_000012.12:49003181:TCTC:TCTCTC
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTC=0.000178/3 (ALFA)
TC=0.000004/1 (TOPMED)
TC=0.00008/1 (GoESP)
HGVS:: NC_000012.12:g.49003182TC[3], NC_000012.11:g.49396965TC[3], NM_002733.5:c.849_850dup, NM_002733.4:c.849_850dup, XM_011538562.3:c.753_754dup, XM_011538562.2:c.753_754dup, XM_011538562.1:c.753_754dup, XM_005269020.3:c.597_598dup, XM_005269020.2:c.597_598dup, XM_005269020.1:c.597_598dup, NM_001206710.2:c.753_754dup, NM_001206710.1:c.753_754dup, NM_001206709.2:c.876_877dup, NM_001206709.1:c.876_877dup, XM_047429136.1:c.696_697dup, NM_212461.1:c.597_598dup, NP_002724.1:p.Thr284fs, XP_011536864.1:p.Thr252fs, XP_005269077.1:p.Thr200fs, NP_001193639.1:p.Thr252fs, NP_001193638.1:p.Thr293fs, XP_047285092.1:p.Thr233fs

Select item 14757354006.

rs1475735400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49003909 (GRCh38)
12:49397692 (GRCh37)
Canonical SPDI:: NC_000012.12:49003908:G:A
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49003909G>A, NC_000012.11:g.49397692G>A, NM_002733.5:c.551C>T, NM_002733.4:c.551C>T, XM_011538562.3:c.455C>T, XM_011538562.2:c.455C>T, XM_011538562.1:c.455C>T, XM_005269020.3:c.299C>T, XM_005269020.2:c.299C>T, XM_005269020.1:c.299C>T, NM_001206710.2:c.455C>T, NM_001206710.1:c.455C>T, NM_001206709.2:c.578C>T, NM_001206709.1:c.578C>T, XM_047429136.1:c.398C>T, NM_212461.1:c.299C>T, NP_002724.1:p.Pro184Leu, XP_011536864.1:p.Pro152Leu, XP_005269077.1:p.Pro100Leu, NP_001193639.1:p.Pro152Leu, NP_001193638.1:p.Pro193Leu, XP_047285092.1:p.Pro133Leu

Select item 14665650567.

rs1466565056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49005765 (GRCh38)
12:49399548 (GRCh37)
Canonical SPDI:: NC_000012.12:49005764:A:G
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_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_000012.12:g.49005765A>G, NC_000012.11:g.49399548A>G, NM_002733.5:c.146T>C, NM_002733.4:c.146T>C, XM_011538562.3:c.50T>C, XM_011538562.2:c.50T>C, XM_011538562.1:c.50T>C, XM_005269020.3:c.-156T>C, XM_005269020.2:c.-156T>C, XM_005269020.1:c.-156T>C, NM_001206710.2:c.50T>C, NM_001206710.1:c.50T>C, NM_001206709.2:c.146T>C, NM_001206709.1:c.146T>C, NM_212461.1:c.-156T>C, NP_002724.1:p.Val49Ala, XP_011536864.1:p.Val17Ala, NP_001193639.1:p.Val17Ala, NP_001193638.1:p.Val49Ala

Select item 14642014958.

rs1464201495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49005846 (GRCh38)
12:49399629 (GRCh37)
Canonical SPDI:: NC_000012.12:49005845:G:A
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49005846G>A, NC_000012.11:g.49399629G>A, NM_002733.5:c.65C>T, NM_002733.4:c.65C>T, XM_011538562.3:c.-32C>T, XM_011538562.2:c.-32C>T, XM_011538562.1:c.-32C>T, NM_001206710.2:c.-32C>T, NM_001206710.1:c.-32C>T, NM_001206709.2:c.65C>T, NM_001206709.1:c.65C>T, NM_212461.1:c.-237C>T, NP_002724.1:p.Pro22Leu, NP_001193638.1:p.Pro22Leu

Select item 14618991239.

rs1461899123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49003227 (GRCh38)
12:49397010 (GRCh37)
Canonical SPDI:: NC_000012.12:49003226:G:A
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49003227G>A, NC_000012.11:g.49397010G>A, NM_002733.5:c.805C>T, NM_002733.4:c.805C>T, XM_011538562.3:c.709C>T, XM_011538562.2:c.709C>T, XM_011538562.1:c.709C>T, XM_005269020.3:c.553C>T, XM_005269020.2:c.553C>T, XM_005269020.1:c.553C>T, NM_001206710.2:c.709C>T, NM_001206710.1:c.709C>T, NM_001206709.2:c.832C>T, NM_001206709.1:c.832C>T, XM_047429136.1:c.652C>T, NM_212461.1:c.553C>T, NP_002724.1:p.Arg269Ter, XP_011536864.1:p.Arg237Ter, XP_005269077.1:p.Arg185Ter, NP_001193639.1:p.Arg237Ter, NP_001193638.1:p.Arg278Ter, XP_047285092.1:p.Arg218Ter

Select item 146020912610.

rs1460209126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49003198 (GRCh38)
12:49396981 (GRCh37)
Canonical SPDI:: NC_000012.12:49003197:C:T
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49003198C>T, NC_000012.11:g.49396981C>T, NM_002733.5:c.834G>A, NM_002733.4:c.834G>A, XM_011538562.3:c.738G>A, XM_011538562.2:c.738G>A, XM_011538562.1:c.738G>A, XM_005269020.3:c.582G>A, XM_005269020.2:c.582G>A, XM_005269020.1:c.582G>A, NM_001206710.2:c.738G>A, NM_001206710.1:c.738G>A, NM_001206709.2:c.861G>A, NM_001206709.1:c.861G>A, XM_047429136.1:c.681G>A, NM_212461.1:c.582G>A

Select item 145727916611.

rs1457279166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49003581 (GRCh38)
12:49397364 (GRCh37)
Canonical SPDI:: NC_000012.12:49003580:T:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.49003581T>C, NC_000012.11:g.49397364T>C, NM_002733.5:c.718A>G, NM_002733.4:c.718A>G, XM_011538562.3:c.622A>G, XM_011538562.2:c.622A>G, XM_011538562.1:c.622A>G, XM_005269020.3:c.466A>G, XM_005269020.2:c.466A>G, XM_005269020.1:c.466A>G, NM_001206710.2:c.622A>G, NM_001206710.1:c.622A>G, NM_001206709.2:c.745A>G, NM_001206709.1:c.745A>G, XM_047429136.1:c.565A>G, NM_212461.1:c.466A>G, NP_002724.1:p.Ile240Val, XP_011536864.1:p.Ile208Val, XP_005269077.1:p.Ile156Val, NP_001193639.1:p.Ile208Val, NP_001193638.1:p.Ile249Val, XP_047285092.1:p.Ile189Val

Select item 145479098812.

rs1454790988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49005326 (GRCh38)
12:49399109 (GRCh37)
Canonical SPDI:: NC_000012.12:49005325:G:A
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49005326G>A, NC_000012.11:g.49399109G>A, NM_002733.5:c.289C>T, NM_002733.4:c.289C>T, XM_011538562.3:c.193C>T, XM_011538562.2:c.193C>T, XM_011538562.1:c.193C>T, XM_005269020.3:c.37C>T, XM_005269020.2:c.37C>T, XM_005269020.1:c.37C>T, NM_001206710.2:c.193C>T, NM_001206710.1:c.193C>T, NM_001206709.2:c.316C>T, NM_001206709.1:c.316C>T, XM_047429136.1:c.136C>T, NM_212461.1:c.37C>T, NP_002724.1:p.Arg97Cys, XP_011536864.1:p.Arg65Cys, XP_005269077.1:p.Arg13Cys, NP_001193639.1:p.Arg65Cys, NP_001193638.1:p.Arg106Cys, XP_047285092.1:p.Arg46Cys

Select item 145399954013.

rs1453999540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49003852 (GRCh38)
12:49397635 (GRCh37)
Canonical SPDI:: NC_000012.12:49003851:T:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.49003852T>C, NC_000012.11:g.49397635T>C, NM_002733.5:c.608A>G, NM_002733.4:c.608A>G, XM_011538562.3:c.512A>G, XM_011538562.2:c.512A>G, XM_011538562.1:c.512A>G, XM_005269020.3:c.356A>G, XM_005269020.2:c.356A>G, XM_005269020.1:c.356A>G, NM_001206710.2:c.512A>G, NM_001206710.1:c.512A>G, NM_001206709.2:c.635A>G, NM_001206709.1:c.635A>G, XM_047429136.1:c.455A>G, NM_212461.1:c.356A>G, NP_002724.1:p.Asn203Ser, XP_011536864.1:p.Asn171Ser, XP_005269077.1:p.Asn119Ser, NP_001193639.1:p.Asn171Ser, NP_001193638.1:p.Asn212Ser, XP_047285092.1:p.Asn152Ser

Select item 145268253514.

rs1452682535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:49002993 (GRCh38)
12:49396776 (GRCh37)
Canonical SPDI:: NC_000012.12:49002992:A:C,NC_000012.12:49002992:A:G
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000012.12:g.49002993A>C, NC_000012.12:g.49002993A>G, NC_000012.11:g.49396776A>C, NC_000012.11:g.49396776A>G, NM_002733.5:c.902T>G, NM_002733.5:c.902T>C, NM_002733.4:c.902T>G, NM_002733.4:c.902T>C, XM_011538562.3:c.806T>G, XM_011538562.3:c.806T>C, XM_011538562.2:c.806T>G, XM_011538562.2:c.806T>C, XM_011538562.1:c.806T>G, XM_011538562.1:c.806T>C, XM_005269020.3:c.650T>G, XM_005269020.3:c.650T>C, XM_005269020.2:c.650T>G, XM_005269020.2:c.650T>C, XM_005269020.1:c.650T>G, XM_005269020.1:c.650T>C, NM_001206710.2:c.806T>G, NM_001206710.2:c.806T>C, NM_001206710.1:c.806T>G, NM_001206710.1:c.806T>C, NM_001206709.2:c.929T>G, NM_001206709.2:c.929T>C, NM_001206709.1:c.929T>G, NM_001206709.1:c.929T>C, XM_047429136.1:c.749T>G, XM_047429136.1:c.749T>C, NM_212461.1:c.650T>G, NM_212461.1:c.650T>C, NP_002724.1:p.Val301Gly, NP_002724.1:p.Val301Ala, XP_011536864.1:p.Val269Gly, XP_011536864.1:p.Val269Ala, XP_005269077.1:p.Val217Gly, XP_005269077.1:p.Val217Ala, NP_001193639.1:p.Val269Gly, NP_001193639.1:p.Val269Ala, NP_001193638.1:p.Val310Gly, NP_001193638.1:p.Val310Ala, XP_047285092.1:p.Val250Gly, XP_047285092.1:p.Val250Ala

Select item 145237855615.

rs1452378556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49004533 (GRCh38)
12:49398316 (GRCh37)
Canonical SPDI:: NC_000012.12:49004532:G:A
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.49004533G>A, NC_000012.11:g.49398316G>A, NM_002733.5:c.511C>T, NM_002733.4:c.511C>T, XM_011538562.3:c.415C>T, XM_011538562.2:c.415C>T, XM_011538562.1:c.415C>T, XM_005269020.3:c.259C>T, XM_005269020.2:c.259C>T, XM_005269020.1:c.259C>T, NM_001206710.2:c.415C>T, NM_001206710.1:c.415C>T, NM_001206709.2:c.538C>T, NM_001206709.1:c.538C>T, XM_047429136.1:c.358C>T, NM_212461.1:c.259C>T, NP_002724.1:p.Arg171Cys, XP_011536864.1:p.Arg139Cys, XP_005269077.1:p.Arg87Cys, NP_001193639.1:p.Arg139Cys, NP_001193638.1:p.Arg180Cys, XP_047285092.1:p.Arg120Cys

Select item 144695189516.

rs1446951895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49003175 (GRCh38)
12:49396958 (GRCh37)
Canonical SPDI:: NC_000012.12:49003174:T:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49003175T>C, NC_000012.11:g.49396958T>C, NM_002733.5:c.857A>G, NM_002733.4:c.857A>G, XM_011538562.3:c.761A>G, XM_011538562.2:c.761A>G, XM_011538562.1:c.761A>G, XM_005269020.3:c.605A>G, XM_005269020.2:c.605A>G, XM_005269020.1:c.605A>G, NM_001206710.2:c.761A>G, NM_001206710.1:c.761A>G, NM_001206709.2:c.884A>G, NM_001206709.1:c.884A>G, XM_047429136.1:c.704A>G, NM_212461.1:c.605A>G, NP_002724.1:p.Glu286Gly, XP_011536864.1:p.Glu254Gly, XP_005269077.1:p.Glu202Gly, NP_001193639.1:p.Glu254Gly, NP_001193638.1:p.Glu295Gly, XP_047285092.1:p.Glu235Gly

Select item 144243330417.

rs1442433304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49005523 (GRCh38)
12:49399306 (GRCh37)
Canonical SPDI:: NC_000012.12:49005522:A:G
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.49005523A>G, NC_000012.11:g.49399306A>G, NM_002733.5:c.189T>C, NM_002733.4:c.189T>C, XM_011538562.3:c.93T>C, XM_011538562.2:c.93T>C, XM_011538562.1:c.93T>C, XM_005269020.3:c.-64T>C, XM_005269020.2:c.-64T>C, XM_005269020.1:c.-64T>C, NM_001206710.2:c.93T>C, NM_001206710.1:c.93T>C, NM_001206709.2:c.189T>C, NM_001206709.1:c.189T>C, XM_047429136.1:c.36T>C, NM_212461.1:c.-64T>C

Select item 144001394118.

rs1440013941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49003795 (GRCh38)
12:49397578 (GRCh37)
Canonical SPDI:: NC_000012.12:49003794:T:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.49003795T>C, NC_000012.11:g.49397578T>C, NM_002733.5:c.665A>G, NM_002733.4:c.665A>G, XM_011538562.3:c.569A>G, XM_011538562.2:c.569A>G, XM_011538562.1:c.569A>G, XM_005269020.3:c.413A>G, XM_005269020.2:c.413A>G, XM_005269020.1:c.413A>G, NM_001206710.2:c.569A>G, NM_001206710.1:c.569A>G, NM_001206709.2:c.692A>G, NM_001206709.1:c.692A>G, XM_047429136.1:c.512A>G, NM_212461.1:c.413A>G, NP_002724.1:p.Gln222Arg, XP_011536864.1:p.Gln190Arg, XP_005269077.1:p.Gln138Arg, NP_001193639.1:p.Gln190Arg, NP_001193638.1:p.Gln231Arg, XP_047285092.1:p.Gln171Arg

Select item 143908662219.

rs1439086622 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:49005543 (GRCh38)
12:49399326 (GRCh37)
Canonical SPDI:: NC_000012.12:49005542:CC:C
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,intron_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49005544del, NC_000012.11:g.49399327del, XM_005269020.3:c.-84del, XM_005269020.2:c.-84del, XM_005269020.1:c.-84del, NM_212461.1:c.-84del

Select item 143210397820.

rs1432103978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49005769 (GRCh38)
12:49399552 (GRCh37)
Canonical SPDI:: NC_000012.12:49005768:A:G
Gene:: PRKAG1 (Varview), DDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49005769A>G, NC_000012.11:g.49399552A>G, NM_002733.5:c.142T>C, NM_002733.4:c.142T>C, XM_011538562.3:c.46T>C, XM_011538562.2:c.46T>C, XM_011538562.1:c.46T>C, XM_005269020.3:c.-160T>C, XM_005269020.2:c.-160T>C, XM_005269020.1:c.-160T>C, NM_001206710.2:c.46T>C, NM_001206710.1:c.46T>C, NM_001206709.2:c.142T>C, NM_001206709.1:c.142T>C, NM_212461.1:c.-160T>C

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