SNP Links for Protein (Select 334085240) - SNP

Links from Protein

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Select item 14890716471.

rs1489071647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:36685769 (GRCh38)
6:36653546 (GRCh37)
Canonical SPDI:: NC_000006.12:36685768:G:A,NC_000006.12:36685768:G:C
Gene:: CDKN1A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36685769G>A, NC_000006.12:g.36685769G>C, NC_000006.11:g.36653546G>A, NC_000006.11:g.36653546G>C, NG_009364.1:g.12088G>A, NG_009364.1:g.12088G>C, NM_000389.5:c.464G>A, NM_000389.5:c.464G>C, NM_000389.4:c.464G>A, NM_000389.4:c.464G>C, NM_001291549.3:c.566G>A, NM_001291549.3:c.566G>C, NM_001291549.2:c.566G>A, NM_001291549.2:c.566G>C, NM_001291549.1:c.566G>A, NM_001291549.1:c.566G>C, NM_078467.3:c.464G>A, NM_078467.3:c.464G>C, NM_078467.2:c.464G>A, NM_078467.2:c.464G>C, NM_001220778.2:c.464G>A, NM_001220778.2:c.464G>C, NM_001220778.1:c.464G>A, NM_001220778.1:c.464G>C, NM_001220777.2:c.464G>A, NM_001220777.2:c.464G>C, NM_001220777.1:c.464G>A, NM_001220777.1:c.464G>C, NM_001374512.1:c.*259G>A, NM_001374512.1:c.*259G>C, NM_001374509.1:c.566G>A, NM_001374509.1:c.566G>C, NM_001374513.1:c.464G>A, NM_001374513.1:c.464G>C, NM_001374511.1:c.563G>A, NM_001374511.1:c.563G>C, NM_001374510.1:c.503G>A, NM_001374510.1:c.503G>C, NR_037150.1:n.741G>A, NR_037150.1:n.741G>C, NR_037151.1:n.699G>A, NR_037151.1:n.699G>C, NR_037152.1:n.534G>A, NR_037152.1:n.534G>C, NP_000380.1:p.Arg155His, NP_000380.1:p.Arg155Pro, NP_001278478.1:p.Arg189His, NP_001278478.1:p.Arg189Pro, NP_510867.1:p.Arg155His, NP_510867.1:p.Arg155Pro, NP_001207707.1:p.Arg155His, NP_001207707.1:p.Arg155Pro, NP_001207706.1:p.Arg155His, NP_001207706.1:p.Arg155Pro, NP_001361438.1:p.Arg189His, NP_001361438.1:p.Arg189Pro, NP_001361442.1:p.Arg155His, NP_001361442.1:p.Arg155Pro, NP_001361440.1:p.Arg188His, NP_001361440.1:p.Arg188Pro, NP_001361439.1:p.Arg168His, NP_001361439.1:p.Arg168Pro

Select item 14787177052.

rs1478717705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:36684197 (GRCh38)
6:36651974 (GRCh37)
Canonical SPDI:: NC_000006.12:36684196:C:A,NC_000006.12:36684196:C:G,NC_000006.12:36684196:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_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_000006.12:g.36684197C>A, NC_000006.12:g.36684197C>G, NC_000006.12:g.36684197C>T, NC_000006.11:g.36651974C>A, NC_000006.11:g.36651974C>G, NC_000006.11:g.36651974C>T, NG_009364.1:g.10516C>A, NG_009364.1:g.10516C>G, NG_009364.1:g.10516C>T, NM_000389.5:c.96C>A, NM_000389.5:c.96C>G, NM_000389.5:c.96C>T, NM_000389.4:c.96C>A, NM_000389.4:c.96C>G, NM_000389.4:c.96C>T, NM_001291549.3:c.198C>A, NM_001291549.3:c.198C>G, NM_001291549.3:c.198C>T, NM_001291549.2:c.198C>A, NM_001291549.2:c.198C>G, NM_001291549.2:c.198C>T, NM_001291549.1:c.198C>A, NM_001291549.1:c.198C>G, NM_001291549.1:c.198C>T, NM_078467.3:c.96C>A, NM_078467.3:c.96C>G, NM_078467.3:c.96C>T, NM_078467.2:c.96C>A, NM_078467.2:c.96C>G, NM_078467.2:c.96C>T, NM_001220778.2:c.96C>A, NM_001220778.2:c.96C>G, NM_001220778.2:c.96C>T, NM_001220778.1:c.96C>A, NM_001220778.1:c.96C>G, NM_001220778.1:c.96C>T, NM_001220777.2:c.96C>A, NM_001220777.2:c.96C>G, NM_001220777.2:c.96C>T, NM_001220777.1:c.96C>A, NM_001220777.1:c.96C>G, NM_001220777.1:c.96C>T, NM_001374512.1:c.96C>A, NM_001374512.1:c.96C>G, NM_001374512.1:c.96C>T, NM_001374509.1:c.198C>A, NM_001374509.1:c.198C>G, NM_001374509.1:c.198C>T, NM_001374513.1:c.96C>A, NM_001374513.1:c.96C>G, NM_001374513.1:c.96C>T, NM_001374511.1:c.96C>A, NM_001374511.1:c.96C>G, NM_001374511.1:c.96C>T, NM_001374510.1:c.135C>A, NM_001374510.1:c.135C>G, NM_001374510.1:c.135C>T, NR_037150.1:n.373C>A, NR_037150.1:n.373C>G, NR_037150.1:n.373C>T, NR_037151.1:n.331C>A, NR_037151.1:n.331C>G, NR_037151.1:n.331C>T, NR_037152.1:n.166C>A, NR_037152.1:n.166C>G, NR_037152.1:n.166C>T

Select item 14774582543.

rs1477458254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:36684196 (GRCh38)
6:36651973 (GRCh37)
Canonical SPDI:: NC_000006.12:36684195:G:A,NC_000006.12:36684195:G:C,NC_000006.12:36684195:G:T
Gene:: CDKN1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000033/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36684196G>A, NC_000006.12:g.36684196G>C, NC_000006.12:g.36684196G>T, NC_000006.11:g.36651973G>A, NC_000006.11:g.36651973G>C, NC_000006.11:g.36651973G>T, NG_009364.1:g.10515G>A, NG_009364.1:g.10515G>C, NG_009364.1:g.10515G>T, NM_000389.5:c.95G>A, NM_000389.5:c.95G>C, NM_000389.5:c.95G>T, NM_000389.4:c.95G>A, NM_000389.4:c.95G>C, NM_000389.4:c.95G>T, NM_001291549.3:c.197G>A, NM_001291549.3:c.197G>C, NM_001291549.3:c.197G>T, NM_001291549.2:c.197G>A, NM_001291549.2:c.197G>C, NM_001291549.2:c.197G>T, NM_001291549.1:c.197G>A, NM_001291549.1:c.197G>C, NM_001291549.1:c.197G>T, NM_078467.3:c.95G>A, NM_078467.3:c.95G>C, NM_078467.3:c.95G>T, NM_078467.2:c.95G>A, NM_078467.2:c.95G>C, NM_078467.2:c.95G>T, NM_001220778.2:c.95G>A, NM_001220778.2:c.95G>C, NM_001220778.2:c.95G>T, NM_001220778.1:c.95G>A, NM_001220778.1:c.95G>C, NM_001220778.1:c.95G>T, NM_001220777.2:c.95G>A, NM_001220777.2:c.95G>C, NM_001220777.2:c.95G>T, NM_001220777.1:c.95G>A, NM_001220777.1:c.95G>C, NM_001220777.1:c.95G>T, NM_001374512.1:c.95G>A, NM_001374512.1:c.95G>C, NM_001374512.1:c.95G>T, NM_001374509.1:c.197G>A, NM_001374509.1:c.197G>C, NM_001374509.1:c.197G>T, NM_001374513.1:c.95G>A, NM_001374513.1:c.95G>C, NM_001374513.1:c.95G>T, NM_001374511.1:c.95G>A, NM_001374511.1:c.95G>C, NM_001374511.1:c.95G>T, NM_001374510.1:c.134G>A, NM_001374510.1:c.134G>C, NM_001374510.1:c.134G>T, NR_037150.1:n.372G>A, NR_037150.1:n.372G>C, NR_037150.1:n.372G>T, NR_037151.1:n.330G>A, NR_037151.1:n.330G>C, NR_037151.1:n.330G>T, NR_037152.1:n.165G>A, NR_037152.1:n.165G>C, NR_037152.1:n.165G>T, NP_000380.1:p.Arg32His, NP_000380.1:p.Arg32Pro, NP_000380.1:p.Arg32Leu, NP_001278478.1:p.Arg66His, NP_001278478.1:p.Arg66Pro, NP_001278478.1:p.Arg66Leu, NP_510867.1:p.Arg32His, NP_510867.1:p.Arg32Pro, NP_510867.1:p.Arg32Leu, NP_001207707.1:p.Arg32His, NP_001207707.1:p.Arg32Pro, NP_001207707.1:p.Arg32Leu, NP_001207706.1:p.Arg32His, NP_001207706.1:p.Arg32Pro, NP_001207706.1:p.Arg32Leu, NP_001361441.1:p.Arg32His, NP_001361441.1:p.Arg32Pro, NP_001361441.1:p.Arg32Leu, NP_001361438.1:p.Arg66His, NP_001361438.1:p.Arg66Pro, NP_001361438.1:p.Arg66Leu, NP_001361442.1:p.Arg32His, NP_001361442.1:p.Arg32Pro, NP_001361442.1:p.Arg32Leu, NP_001361440.1:p.Arg32His, NP_001361440.1:p.Arg32Pro, NP_001361440.1:p.Arg32Leu, NP_001361439.1:p.Arg45His, NP_001361439.1:p.Arg45Pro, NP_001361439.1:p.Arg45Leu

Select item 14726628194.

rs1472662819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:36684399 (GRCh38)
6:36652176 (GRCh37)
Canonical SPDI:: NC_000006.12:36684398:G:A,NC_000006.12:36684398:G:C
Gene:: CDKN1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36684399G>A, NC_000006.12:g.36684399G>C, NC_000006.11:g.36652176G>A, NC_000006.11:g.36652176G>C, NG_009364.1:g.10718G>A, NG_009364.1:g.10718G>C, NM_000389.5:c.298G>A, NM_000389.5:c.298G>C, NM_000389.4:c.298G>A, NM_000389.4:c.298G>C, NM_001291549.3:c.400G>A, NM_001291549.3:c.400G>C, NM_001291549.2:c.400G>A, NM_001291549.2:c.400G>C, NM_001291549.1:c.400G>A, NM_001291549.1:c.400G>C, NM_078467.3:c.298G>A, NM_078467.3:c.298G>C, NM_078467.2:c.298G>A, NM_078467.2:c.298G>C, NM_001220778.2:c.298G>A, NM_001220778.2:c.298G>C, NM_001220778.1:c.298G>A, NM_001220778.1:c.298G>C, NM_001220777.2:c.298G>A, NM_001220777.2:c.298G>C, NM_001220777.1:c.298G>A, NM_001220777.1:c.298G>C, NM_001374512.1:c.298G>A, NM_001374512.1:c.298G>C, NM_001374509.1:c.400G>A, NM_001374509.1:c.400G>C, NM_001374513.1:c.298G>A, NM_001374513.1:c.298G>C, NM_001374511.1:c.298G>A, NM_001374511.1:c.298G>C, NM_001374510.1:c.337G>A, NM_001374510.1:c.337G>C, NR_037150.1:n.575G>A, NR_037150.1:n.575G>C, NR_037151.1:n.533G>A, NR_037151.1:n.533G>C, NR_037152.1:n.368G>A, NR_037152.1:n.368G>C, NP_000380.1:p.Ala100Thr, NP_000380.1:p.Ala100Pro, NP_001278478.1:p.Ala134Thr, NP_001278478.1:p.Ala134Pro, NP_510867.1:p.Ala100Thr, NP_510867.1:p.Ala100Pro, NP_001207707.1:p.Ala100Thr, NP_001207707.1:p.Ala100Pro, NP_001207706.1:p.Ala100Thr, NP_001207706.1:p.Ala100Pro, NP_001361441.1:p.Ala100Thr, NP_001361441.1:p.Ala100Pro, NP_001361438.1:p.Ala134Thr, NP_001361438.1:p.Ala134Pro, NP_001361442.1:p.Ala100Thr, NP_001361442.1:p.Ala100Pro, NP_001361440.1:p.Ala100Thr, NP_001361440.1:p.Ala100Pro, NP_001361439.1:p.Ala113Thr, NP_001361439.1:p.Ala113Pro

Select item 14663078395.

rs1466307839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36684401 (GRCh38)
6:36652178 (GRCh37)
Canonical SPDI:: NC_000006.12:36684400:T:C
Gene:: CDKN1A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36684401T>C, NC_000006.11:g.36652178T>C, NG_009364.1:g.10720T>C, NM_000389.5:c.300T>C, NM_000389.4:c.300T>C, NM_001291549.3:c.402T>C, NM_001291549.2:c.402T>C, NM_001291549.1:c.402T>C, NM_078467.3:c.300T>C, NM_078467.2:c.300T>C, NM_001220778.2:c.300T>C, NM_001220778.1:c.300T>C, NM_001220777.2:c.300T>C, NM_001220777.1:c.300T>C, NM_001374512.1:c.300T>C, NM_001374509.1:c.402T>C, NM_001374513.1:c.300T>C, NM_001374511.1:c.300T>C, NM_001374510.1:c.339T>C, NR_037150.1:n.577T>C, NR_037151.1:n.535T>C, NR_037152.1:n.370T>C

Select item 14649926736.

rs1464992673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36684158 (GRCh38)
6:36651935 (GRCh37)
Canonical SPDI:: NC_000006.12:36684157:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36684158C>T, NC_000006.11:g.36651935C>T, NG_009364.1:g.10477C>T, NM_000389.5:c.57C>T, NM_000389.4:c.57C>T, NM_001291549.3:c.159C>T, NM_001291549.2:c.159C>T, NM_001291549.1:c.159C>T, NM_078467.3:c.57C>T, NM_078467.2:c.57C>T, NM_001220778.2:c.57C>T, NM_001220778.1:c.57C>T, NM_001220777.2:c.57C>T, NM_001220777.1:c.57C>T, NM_001374512.1:c.57C>T, NM_001374509.1:c.159C>T, NM_001374513.1:c.57C>T, NM_001374511.1:c.57C>T, NM_001374510.1:c.96C>T, NR_037150.1:n.334C>T, NR_037151.1:n.292C>T, NR_037152.1:n.127C>T

Select item 14635613087.

rs1463561308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:36684480 (GRCh38)
6:36652257 (GRCh37)
Canonical SPDI:: NC_000006.12:36684479:G:A,NC_000006.12:36684479:G:C
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36684480G>A, NC_000006.12:g.36684480G>C, NC_000006.11:g.36652257G>A, NC_000006.11:g.36652257G>C, NG_009364.1:g.10799G>A, NG_009364.1:g.10799G>C, NM_000389.5:c.379G>A, NM_000389.5:c.379G>C, NM_000389.4:c.379G>A, NM_000389.4:c.379G>C, NM_001291549.3:c.481G>A, NM_001291549.3:c.481G>C, NM_001291549.2:c.481G>A, NM_001291549.2:c.481G>C, NM_001291549.1:c.481G>A, NM_001291549.1:c.481G>C, NM_078467.3:c.379G>A, NM_078467.3:c.379G>C, NM_078467.2:c.379G>A, NM_078467.2:c.379G>C, NM_001220778.2:c.379G>A, NM_001220778.2:c.379G>C, NM_001220778.1:c.379G>A, NM_001220778.1:c.379G>C, NM_001220777.2:c.379G>A, NM_001220777.2:c.379G>C, NM_001220777.1:c.379G>A, NM_001220777.1:c.379G>C, NM_001374512.1:c.379G>A, NM_001374512.1:c.379G>C, NM_001374509.1:c.481G>A, NM_001374509.1:c.481G>C, NM_001374513.1:c.379G>A, NM_001374513.1:c.379G>C, NM_001374511.1:c.379G>A, NM_001374511.1:c.379G>C, NM_001374510.1:c.418G>A, NM_001374510.1:c.418G>C, NR_037150.1:n.656G>A, NR_037150.1:n.656G>C, NR_037151.1:n.614G>A, NR_037151.1:n.614G>C, NR_037152.1:n.449G>A, NR_037152.1:n.449G>C, NP_000380.1:p.Ala127Thr, NP_000380.1:p.Ala127Pro, NP_001278478.1:p.Ala161Thr, NP_001278478.1:p.Ala161Pro, NP_510867.1:p.Ala127Thr, NP_510867.1:p.Ala127Pro, NP_001207707.1:p.Ala127Thr, NP_001207707.1:p.Ala127Pro, NP_001207706.1:p.Ala127Thr, NP_001207706.1:p.Ala127Pro, NP_001361441.1:p.Ala127Thr, NP_001361441.1:p.Ala127Pro, NP_001361438.1:p.Ala161Thr, NP_001361438.1:p.Ala161Pro, NP_001361442.1:p.Ala127Thr, NP_001361442.1:p.Ala127Pro, NP_001361440.1:p.Ala127Thr, NP_001361440.1:p.Ala127Pro, NP_001361439.1:p.Ala140Thr, NP_001361439.1:p.Ala140Pro

Select item 14618428578.

rs1461842857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36685797 (GRCh38)
6:36653574 (GRCh37)
Canonical SPDI:: NC_000006.12:36685796:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.36685797C>T, NC_000006.11:g.36653574C>T, NG_009364.1:g.12116C>T, NM_000389.5:c.492C>T, NM_000389.4:c.492C>T, NM_001291549.3:c.594C>T, NM_001291549.2:c.594C>T, NM_001291549.1:c.594C>T, NM_078467.3:c.492C>T, NM_078467.2:c.492C>T, NM_001220778.2:c.492C>T, NM_001220778.1:c.492C>T, NM_001220777.2:c.492C>T, NM_001220777.1:c.492C>T, NM_001374512.1:c.*287C>T, NM_001374509.1:c.594C>T, NM_001374513.1:c.492C>T, NM_001374511.1:c.591C>T, NM_001374510.1:c.531C>T, NR_037150.1:n.769C>T, NR_037151.1:n.727C>T, NR_037152.1:n.562C>T

Select item 14536579599.

rs1453657959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:36684337 (GRCh38)
6:36652114 (GRCh37)
Canonical SPDI:: NC_000006.12:36684336:C:A,NC_000006.12:36684336:C:G,NC_000006.12:36684336:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001342/6 (ALFA)
A=0.000014/2 (GnomAD)
A=0.001339/6 (Estonian)
HGVS:: NC_000006.12:g.36684337C>A, NC_000006.12:g.36684337C>G, NC_000006.12:g.36684337C>T, NC_000006.11:g.36652114C>A, NC_000006.11:g.36652114C>G, NC_000006.11:g.36652114C>T, NG_009364.1:g.10656C>A, NG_009364.1:g.10656C>G, NG_009364.1:g.10656C>T, NM_000389.5:c.236C>A, NM_000389.5:c.236C>G, NM_000389.5:c.236C>T, NM_000389.4:c.236C>A, NM_000389.4:c.236C>G, NM_000389.4:c.236C>T, NM_001291549.3:c.338C>A, NM_001291549.3:c.338C>G, NM_001291549.3:c.338C>T, NM_001291549.2:c.338C>A, NM_001291549.2:c.338C>G, NM_001291549.2:c.338C>T, NM_001291549.1:c.338C>A, NM_001291549.1:c.338C>G, NM_001291549.1:c.338C>T, NM_078467.3:c.236C>A, NM_078467.3:c.236C>G, NM_078467.3:c.236C>T, NM_078467.2:c.236C>A, NM_078467.2:c.236C>G, NM_078467.2:c.236C>T, NM_001220778.2:c.236C>A, NM_001220778.2:c.236C>G, NM_001220778.2:c.236C>T, NM_001220778.1:c.236C>A, NM_001220778.1:c.236C>G, NM_001220778.1:c.236C>T, NM_001220777.2:c.236C>A, NM_001220777.2:c.236C>G, NM_001220777.2:c.236C>T, NM_001220777.1:c.236C>A, NM_001220777.1:c.236C>G, NM_001220777.1:c.236C>T, NM_001374512.1:c.236C>A, NM_001374512.1:c.236C>G, NM_001374512.1:c.236C>T, NM_001374509.1:c.338C>A, NM_001374509.1:c.338C>G, NM_001374509.1:c.338C>T, NM_001374513.1:c.236C>A, NM_001374513.1:c.236C>G, NM_001374513.1:c.236C>T, NM_001374511.1:c.236C>A, NM_001374511.1:c.236C>G, NM_001374511.1:c.236C>T, NM_001374510.1:c.275C>A, NM_001374510.1:c.275C>G, NM_001374510.1:c.275C>T, NR_037150.1:n.513C>A, NR_037150.1:n.513C>G, NR_037150.1:n.513C>T, NR_037151.1:n.471C>A, NR_037151.1:n.471C>G, NR_037151.1:n.471C>T, NR_037152.1:n.306C>A, NR_037152.1:n.306C>G, NR_037152.1:n.306C>T, NP_000380.1:p.Pro79His, NP_000380.1:p.Pro79Arg, NP_000380.1:p.Pro79Leu, NP_001278478.1:p.Pro113His, NP_001278478.1:p.Pro113Arg, NP_001278478.1:p.Pro113Leu, NP_510867.1:p.Pro79His, NP_510867.1:p.Pro79Arg, NP_510867.1:p.Pro79Leu, NP_001207707.1:p.Pro79His, NP_001207707.1:p.Pro79Arg, NP_001207707.1:p.Pro79Leu, NP_001207706.1:p.Pro79His, NP_001207706.1:p.Pro79Arg, NP_001207706.1:p.Pro79Leu, NP_001361441.1:p.Pro79His, NP_001361441.1:p.Pro79Arg, NP_001361441.1:p.Pro79Leu, NP_001361438.1:p.Pro113His, NP_001361438.1:p.Pro113Arg, NP_001361438.1:p.Pro113Leu, NP_001361442.1:p.Pro79His, NP_001361442.1:p.Pro79Arg, NP_001361442.1:p.Pro79Leu, NP_001361440.1:p.Pro79His, NP_001361440.1:p.Pro79Arg, NP_001361440.1:p.Pro79Leu, NP_001361439.1:p.Pro92His, NP_001361439.1:p.Pro92Arg, NP_001361439.1:p.Pro92Leu

Select item 144979667910.

rs1449796679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36684314 (GRCh38)
6:36652091 (GRCh37)
Canonical SPDI:: NC_000006.12:36684313:T:C
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_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=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.36684314T>C, NC_000006.11:g.36652091T>C, NG_009364.1:g.10633T>C, NM_000389.5:c.213T>C, NM_000389.4:c.213T>C, NM_001291549.3:c.315T>C, NM_001291549.2:c.315T>C, NM_001291549.1:c.315T>C, NM_078467.3:c.213T>C, NM_078467.2:c.213T>C, NM_001220778.2:c.213T>C, NM_001220778.1:c.213T>C, NM_001220777.2:c.213T>C, NM_001220777.1:c.213T>C, NM_001374512.1:c.213T>C, NM_001374509.1:c.315T>C, NM_001374513.1:c.213T>C, NM_001374511.1:c.213T>C, NM_001374510.1:c.252T>C, NR_037150.1:n.490T>C, NR_037151.1:n.448T>C, NR_037152.1:n.283T>C

Select item 144935076511.

rs1449350765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36684431 (GRCh38)
6:36652208 (GRCh37)
Canonical SPDI:: NC_000006.12:36684430:T:C
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.36684431T>C, NC_000006.11:g.36652208T>C, NG_009364.1:g.10750T>C, NM_000389.5:c.330T>C, NM_000389.4:c.330T>C, NM_001291549.3:c.432T>C, NM_001291549.2:c.432T>C, NM_001291549.1:c.432T>C, NM_078467.3:c.330T>C, NM_078467.2:c.330T>C, NM_001220778.2:c.330T>C, NM_001220778.1:c.330T>C, NM_001220777.2:c.330T>C, NM_001220777.1:c.330T>C, NM_001374512.1:c.330T>C, NM_001374509.1:c.432T>C, NM_001374513.1:c.330T>C, NM_001374511.1:c.330T>C, NM_001374510.1:c.369T>C, NR_037150.1:n.607T>C, NR_037151.1:n.565T>C, NR_037152.1:n.400T>C

Select item 144316266512.

rs1443162665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:36684170 (GRCh38)
6:36651947 (GRCh37)
Canonical SPDI:: NC_000006.12:36684169:C:A,NC_000006.12:36684169:C:G,NC_000006.12:36684169:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000006.12:g.36684170C>A, NC_000006.12:g.36684170C>G, NC_000006.12:g.36684170C>T, NC_000006.11:g.36651947C>A, NC_000006.11:g.36651947C>G, NC_000006.11:g.36651947C>T, NG_009364.1:g.10489C>A, NG_009364.1:g.10489C>G, NG_009364.1:g.10489C>T, NM_000389.5:c.69C>A, NM_000389.5:c.69C>G, NM_000389.5:c.69C>T, NM_000389.4:c.69C>A, NM_000389.4:c.69C>G, NM_000389.4:c.69C>T, NM_001291549.3:c.171C>A, NM_001291549.3:c.171C>G, NM_001291549.3:c.171C>T, NM_001291549.2:c.171C>A, NM_001291549.2:c.171C>G, NM_001291549.2:c.171C>T, NM_001291549.1:c.171C>A, NM_001291549.1:c.171C>G, NM_001291549.1:c.171C>T, NM_078467.3:c.69C>A, NM_078467.3:c.69C>G, NM_078467.3:c.69C>T, NM_078467.2:c.69C>A, NM_078467.2:c.69C>G, NM_078467.2:c.69C>T, NM_001220778.2:c.69C>A, NM_001220778.2:c.69C>G, NM_001220778.2:c.69C>T, NM_001220778.1:c.69C>A, NM_001220778.1:c.69C>G, NM_001220778.1:c.69C>T, NM_001220777.2:c.69C>A, NM_001220777.2:c.69C>G, NM_001220777.2:c.69C>T, NM_001220777.1:c.69C>A, NM_001220777.1:c.69C>G, NM_001220777.1:c.69C>T, NM_001374512.1:c.69C>A, NM_001374512.1:c.69C>G, NM_001374512.1:c.69C>T, NM_001374509.1:c.171C>A, NM_001374509.1:c.171C>G, NM_001374509.1:c.171C>T, NM_001374513.1:c.69C>A, NM_001374513.1:c.69C>G, NM_001374513.1:c.69C>T, NM_001374511.1:c.69C>A, NM_001374511.1:c.69C>G, NM_001374511.1:c.69C>T, NM_001374510.1:c.108C>A, NM_001374510.1:c.108C>G, NM_001374510.1:c.108C>T, NR_037150.1:n.346C>A, NR_037150.1:n.346C>G, NR_037150.1:n.346C>T, NR_037151.1:n.304C>A, NR_037151.1:n.304C>G, NR_037151.1:n.304C>T, NR_037152.1:n.139C>A, NR_037152.1:n.139C>G, NR_037152.1:n.139C>T

Select item 144208443313.

rs1442084433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:36684383 (GRCh38)
6:36652160 (GRCh37)
Canonical SPDI:: NC_000006.12:36684382:G:A,NC_000006.12:36684382:G:C,NC_000006.12:36684382:G:T
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.36684383G>A, NC_000006.12:g.36684383G>C, NC_000006.12:g.36684383G>T, NC_000006.11:g.36652160G>A, NC_000006.11:g.36652160G>C, NC_000006.11:g.36652160G>T, NG_009364.1:g.10702G>A, NG_009364.1:g.10702G>C, NG_009364.1:g.10702G>T, NM_000389.5:c.282G>A, NM_000389.5:c.282G>C, NM_000389.5:c.282G>T, NM_000389.4:c.282G>A, NM_000389.4:c.282G>C, NM_000389.4:c.282G>T, NM_001291549.3:c.384G>A, NM_001291549.3:c.384G>C, NM_001291549.3:c.384G>T, NM_001291549.2:c.384G>A, NM_001291549.2:c.384G>C, NM_001291549.2:c.384G>T, NM_001291549.1:c.384G>A, NM_001291549.1:c.384G>C, NM_001291549.1:c.384G>T, NM_078467.3:c.282G>A, NM_078467.3:c.282G>C, NM_078467.3:c.282G>T, NM_078467.2:c.282G>A, NM_078467.2:c.282G>C, NM_078467.2:c.282G>T, NM_001220778.2:c.282G>A, NM_001220778.2:c.282G>C, NM_001220778.2:c.282G>T, NM_001220778.1:c.282G>A, NM_001220778.1:c.282G>C, NM_001220778.1:c.282G>T, NM_001220777.2:c.282G>A, NM_001220777.2:c.282G>C, NM_001220777.2:c.282G>T, NM_001220777.1:c.282G>A, NM_001220777.1:c.282G>C, NM_001220777.1:c.282G>T, NM_001374512.1:c.282G>A, NM_001374512.1:c.282G>C, NM_001374512.1:c.282G>T, NM_001374509.1:c.384G>A, NM_001374509.1:c.384G>C, NM_001374509.1:c.384G>T, NM_001374513.1:c.282G>A, NM_001374513.1:c.282G>C, NM_001374513.1:c.282G>T, NM_001374511.1:c.282G>A, NM_001374511.1:c.282G>C, NM_001374511.1:c.282G>T, NM_001374510.1:c.321G>A, NM_001374510.1:c.321G>C, NM_001374510.1:c.321G>T, NR_037150.1:n.559G>A, NR_037150.1:n.559G>C, NR_037150.1:n.559G>T, NR_037151.1:n.517G>A, NR_037151.1:n.517G>C, NR_037151.1:n.517G>T, NR_037152.1:n.352G>A, NR_037152.1:n.352G>C, NR_037152.1:n.352G>T

Select item 143092151014.

rs1430921510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:36684450 (GRCh38)
6:36652227 (GRCh37)
Canonical SPDI:: NC_000006.12:36684449:T:A,NC_000006.12:36684449:T:C
Gene:: CDKN1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.36684450T>A, NC_000006.12:g.36684450T>C, NC_000006.11:g.36652227T>A, NC_000006.11:g.36652227T>C, NG_009364.1:g.10769T>A, NG_009364.1:g.10769T>C, NM_000389.5:c.349T>A, NM_000389.5:c.349T>C, NM_000389.4:c.349T>A, NM_000389.4:c.349T>C, NM_001291549.3:c.451T>A, NM_001291549.3:c.451T>C, NM_001291549.2:c.451T>A, NM_001291549.2:c.451T>C, NM_001291549.1:c.451T>A, NM_001291549.1:c.451T>C, NM_078467.3:c.349T>A, NM_078467.3:c.349T>C, NM_078467.2:c.349T>A, NM_078467.2:c.349T>C, NM_001220778.2:c.349T>A, NM_001220778.2:c.349T>C, NM_001220778.1:c.349T>A, NM_001220778.1:c.349T>C, NM_001220777.2:c.349T>A, NM_001220777.2:c.349T>C, NM_001220777.1:c.349T>A, NM_001220777.1:c.349T>C, NM_001374512.1:c.349T>A, NM_001374512.1:c.349T>C, NM_001374509.1:c.451T>A, NM_001374509.1:c.451T>C, NM_001374513.1:c.349T>A, NM_001374513.1:c.349T>C, NM_001374511.1:c.349T>A, NM_001374511.1:c.349T>C, NM_001374510.1:c.388T>A, NM_001374510.1:c.388T>C, NR_037150.1:n.626T>A, NR_037150.1:n.626T>C, NR_037151.1:n.584T>A, NR_037151.1:n.584T>C, NR_037152.1:n.419T>A, NR_037152.1:n.419T>C, NP_000380.1:p.Cys117Ser, NP_000380.1:p.Cys117Arg, NP_001278478.1:p.Cys151Ser, NP_001278478.1:p.Cys151Arg, NP_510867.1:p.Cys117Ser, NP_510867.1:p.Cys117Arg, NP_001207707.1:p.Cys117Ser, NP_001207707.1:p.Cys117Arg, NP_001207706.1:p.Cys117Ser, NP_001207706.1:p.Cys117Arg, NP_001361441.1:p.Cys117Ser, NP_001361441.1:p.Cys117Arg, NP_001361438.1:p.Cys151Ser, NP_001361438.1:p.Cys151Arg, NP_001361442.1:p.Cys117Ser, NP_001361442.1:p.Cys117Arg, NP_001361440.1:p.Cys117Ser, NP_001361440.1:p.Cys117Arg, NP_001361439.1:p.Cys130Ser, NP_001361439.1:p.Cys130Arg

Select item 142415787115.

rs1424157871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:36684154 (GRCh38)
6:36651931 (GRCh37)
Canonical SPDI:: NC_000006.12:36684153:G:A,NC_000006.12:36684153:G:C
Gene:: CDKN1A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00032/9 (TOMMO)
HGVS:: NC_000006.12:g.36684154G>A, NC_000006.12:g.36684154G>C, NC_000006.11:g.36651931G>A, NC_000006.11:g.36651931G>C, NG_009364.1:g.10473G>A, NG_009364.1:g.10473G>C, NM_000389.5:c.53G>A, NM_000389.5:c.53G>C, NM_000389.4:c.53G>A, NM_000389.4:c.53G>C, NM_001291549.3:c.155G>A, NM_001291549.3:c.155G>C, NM_001291549.2:c.155G>A, NM_001291549.2:c.155G>C, NM_001291549.1:c.155G>A, NM_001291549.1:c.155G>C, NM_078467.3:c.53G>A, NM_078467.3:c.53G>C, NM_078467.2:c.53G>A, NM_078467.2:c.53G>C, NM_001220778.2:c.53G>A, NM_001220778.2:c.53G>C, NM_001220778.1:c.53G>A, NM_001220778.1:c.53G>C, NM_001220777.2:c.53G>A, NM_001220777.2:c.53G>C, NM_001220777.1:c.53G>A, NM_001220777.1:c.53G>C, NM_001374512.1:c.53G>A, NM_001374512.1:c.53G>C, NM_001374509.1:c.155G>A, NM_001374509.1:c.155G>C, NM_001374513.1:c.53G>A, NM_001374513.1:c.53G>C, NM_001374511.1:c.53G>A, NM_001374511.1:c.53G>C, NM_001374510.1:c.92G>A, NM_001374510.1:c.92G>C, NR_037150.1:n.330G>A, NR_037150.1:n.330G>C, NR_037151.1:n.288G>A, NR_037151.1:n.288G>C, NR_037152.1:n.123G>A, NR_037152.1:n.123G>C, NP_000380.1:p.Cys18Tyr, NP_000380.1:p.Cys18Ser, NP_001278478.1:p.Cys52Tyr, NP_001278478.1:p.Cys52Ser, NP_510867.1:p.Cys18Tyr, NP_510867.1:p.Cys18Ser, NP_001207707.1:p.Cys18Tyr, NP_001207707.1:p.Cys18Ser, NP_001207706.1:p.Cys18Tyr, NP_001207706.1:p.Cys18Ser, NP_001361441.1:p.Cys18Tyr, NP_001361441.1:p.Cys18Ser, NP_001361438.1:p.Cys52Tyr, NP_001361438.1:p.Cys52Ser, NP_001361442.1:p.Cys18Tyr, NP_001361442.1:p.Cys18Ser, NP_001361440.1:p.Cys18Tyr, NP_001361440.1:p.Cys18Ser, NP_001361439.1:p.Cys31Tyr, NP_001361439.1:p.Cys31Ser

Select item 141361107116.

rs1413611071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36684482 (GRCh38)
6:36652259 (GRCh37)
Canonical SPDI:: NC_000006.12:36684481:T:C
Gene:: CDKN1A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36684482T>C, NC_000006.11:g.36652259T>C, NG_009364.1:g.10801T>C, NM_000389.5:c.381T>C, NM_000389.4:c.381T>C, NM_001291549.3:c.483T>C, NM_001291549.2:c.483T>C, NM_001291549.1:c.483T>C, NM_078467.3:c.381T>C, NM_078467.2:c.381T>C, NM_001220778.2:c.381T>C, NM_001220778.1:c.381T>C, NM_001220777.2:c.381T>C, NM_001220777.1:c.381T>C, NM_001374512.1:c.381T>C, NM_001374509.1:c.483T>C, NM_001374513.1:c.381T>C, NM_001374511.1:c.381T>C, NM_001374510.1:c.420T>C, NR_037150.1:n.658T>C, NR_037151.1:n.616T>C, NR_037152.1:n.451T>C

Select item 141287614617.

rs1412876146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36684148 (GRCh38)
6:36651925 (GRCh37)
Canonical SPDI:: NC_000006.12:36684147:A:G
Gene:: CDKN1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36684148A>G, NC_000006.11:g.36651925A>G, NG_009364.1:g.10467A>G, NM_000389.5:c.47A>G, NM_000389.4:c.47A>G, NM_001291549.3:c.149A>G, NM_001291549.2:c.149A>G, NM_001291549.1:c.149A>G, NM_078467.3:c.47A>G, NM_078467.2:c.47A>G, NM_001220778.2:c.47A>G, NM_001220778.1:c.47A>G, NM_001220777.2:c.47A>G, NM_001220777.1:c.47A>G, NM_001374512.1:c.47A>G, NM_001374509.1:c.149A>G, NM_001374513.1:c.47A>G, NM_001374511.1:c.47A>G, NM_001374510.1:c.86A>G, NR_037150.1:n.324A>G, NR_037151.1:n.282A>G, NR_037152.1:n.117A>G, NP_000380.1:p.Lys16Arg, NP_001278478.1:p.Lys50Arg, NP_510867.1:p.Lys16Arg, NP_001207707.1:p.Lys16Arg, NP_001207706.1:p.Lys16Arg, NP_001361441.1:p.Lys16Arg, NP_001361438.1:p.Lys50Arg, NP_001361442.1:p.Lys16Arg, NP_001361440.1:p.Lys16Arg, NP_001361439.1:p.Lys29Arg

Select item 141223235318.

rs1412232353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:36684202 (GRCh38)
6:36651979 (GRCh37)
Canonical SPDI:: NC_000006.12:36684201:G:A,NC_000006.12:36684201:G:C
Gene:: CDKN1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.36684202G>A, NC_000006.12:g.36684202G>C, NC_000006.11:g.36651979G>A, NC_000006.11:g.36651979G>C, NG_009364.1:g.10521G>A, NG_009364.1:g.10521G>C, NM_000389.5:c.101G>A, NM_000389.5:c.101G>C, NM_000389.4:c.101G>A, NM_000389.4:c.101G>C, NM_001291549.3:c.203G>A, NM_001291549.3:c.203G>C, NM_001291549.2:c.203G>A, NM_001291549.2:c.203G>C, NM_001291549.1:c.203G>A, NM_001291549.1:c.203G>C, NM_078467.3:c.101G>A, NM_078467.3:c.101G>C, NM_078467.2:c.101G>A, NM_078467.2:c.101G>C, NM_001220778.2:c.101G>A, NM_001220778.2:c.101G>C, NM_001220778.1:c.101G>A, NM_001220778.1:c.101G>C, NM_001220777.2:c.101G>A, NM_001220777.2:c.101G>C, NM_001220777.1:c.101G>A, NM_001220777.1:c.101G>C, NM_001374512.1:c.101G>A, NM_001374512.1:c.101G>C, NM_001374509.1:c.203G>A, NM_001374509.1:c.203G>C, NM_001374513.1:c.101G>A, NM_001374513.1:c.101G>C, NM_001374511.1:c.101G>A, NM_001374511.1:c.101G>C, NM_001374510.1:c.140G>A, NM_001374510.1:c.140G>C, NR_037150.1:n.378G>A, NR_037150.1:n.378G>C, NR_037151.1:n.336G>A, NR_037151.1:n.336G>C, NR_037152.1:n.171G>A, NR_037152.1:n.171G>C, NP_000380.1:p.Cys34Tyr, NP_000380.1:p.Cys34Ser, NP_001278478.1:p.Cys68Tyr, NP_001278478.1:p.Cys68Ser, NP_510867.1:p.Cys34Tyr, NP_510867.1:p.Cys34Ser, NP_001207707.1:p.Cys34Tyr, NP_001207707.1:p.Cys34Ser, NP_001207706.1:p.Cys34Tyr, NP_001207706.1:p.Cys34Ser, NP_001361441.1:p.Cys34Tyr, NP_001361441.1:p.Cys34Ser, NP_001361438.1:p.Cys68Tyr, NP_001361438.1:p.Cys68Ser, NP_001361442.1:p.Cys34Tyr, NP_001361442.1:p.Cys34Ser, NP_001361440.1:p.Cys34Tyr, NP_001361440.1:p.Cys34Ser, NP_001361439.1:p.Cys47Tyr, NP_001361439.1:p.Cys47Ser

Select item 140774205519.

rs1407742055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:36684243 (GRCh38)
6:36652020 (GRCh37)
Canonical SPDI:: NC_000006.12:36684242:C:A,NC_000006.12:36684242:C:G,NC_000006.12:36684242:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: missense_variant,synonymous_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.36684243C>A, NC_000006.12:g.36684243C>G, NC_000006.12:g.36684243C>T, NC_000006.11:g.36652020C>A, NC_000006.11:g.36652020C>G, NC_000006.11:g.36652020C>T, NG_009364.1:g.10562C>A, NG_009364.1:g.10562C>G, NG_009364.1:g.10562C>T, NM_000389.5:c.142C>A, NM_000389.5:c.142C>G, NM_000389.5:c.142C>T, NM_000389.4:c.142C>A, NM_000389.4:c.142C>G, NM_000389.4:c.142C>T, NM_001291549.3:c.244C>A, NM_001291549.3:c.244C>G, NM_001291549.3:c.244C>T, NM_001291549.2:c.244C>A, NM_001291549.2:c.244C>G, NM_001291549.2:c.244C>T, NM_001291549.1:c.244C>A, NM_001291549.1:c.244C>G, NM_001291549.1:c.244C>T, NM_078467.3:c.142C>A, NM_078467.3:c.142C>G, NM_078467.3:c.142C>T, NM_078467.2:c.142C>A, NM_078467.2:c.142C>G, NM_078467.2:c.142C>T, NM_001220778.2:c.142C>A, NM_001220778.2:c.142C>G, NM_001220778.2:c.142C>T, NM_001220778.1:c.142C>A, NM_001220778.1:c.142C>G, NM_001220778.1:c.142C>T, NM_001220777.2:c.142C>A, NM_001220777.2:c.142C>G, NM_001220777.2:c.142C>T, NM_001220777.1:c.142C>A, NM_001220777.1:c.142C>G, NM_001220777.1:c.142C>T, NM_001374512.1:c.142C>A, NM_001374512.1:c.142C>G, NM_001374512.1:c.142C>T, NM_001374509.1:c.244C>A, NM_001374509.1:c.244C>G, NM_001374509.1:c.244C>T, NM_001374513.1:c.142C>A, NM_001374513.1:c.142C>G, NM_001374513.1:c.142C>T, NM_001374511.1:c.142C>A, NM_001374511.1:c.142C>G, NM_001374511.1:c.142C>T, NM_001374510.1:c.181C>A, NM_001374510.1:c.181C>G, NM_001374510.1:c.181C>T, NR_037150.1:n.419C>A, NR_037150.1:n.419C>G, NR_037150.1:n.419C>T, NR_037151.1:n.377C>A, NR_037151.1:n.377C>G, NR_037151.1:n.377C>T, NR_037152.1:n.212C>A, NR_037152.1:n.212C>G, NR_037152.1:n.212C>T, NP_000380.1:p.Arg48Gly, NP_000380.1:p.Arg48Ter, NP_001278478.1:p.Arg82Gly, NP_001278478.1:p.Arg82Ter, NP_510867.1:p.Arg48Gly, NP_510867.1:p.Arg48Ter, NP_001207707.1:p.Arg48Gly, NP_001207707.1:p.Arg48Ter, NP_001207706.1:p.Arg48Gly, NP_001207706.1:p.Arg48Ter, NP_001361441.1:p.Arg48Gly, NP_001361441.1:p.Arg48Ter, NP_001361438.1:p.Arg82Gly, NP_001361438.1:p.Arg82Ter, NP_001361442.1:p.Arg48Gly, NP_001361442.1:p.Arg48Ter, NP_001361440.1:p.Arg48Gly, NP_001361440.1:p.Arg48Ter, NP_001361439.1:p.Arg61Gly, NP_001361439.1:p.Arg61Ter

Select item 140463393120.

rs1404633931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:36684186 (GRCh38)
6:36651963 (GRCh37)
Canonical SPDI:: NC_000006.12:36684185:C:A,NC_000006.12:36684185:C:G,NC_000006.12:36684185:C:T
Gene:: CDKN1A (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,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_000006.12:g.36684186C>A, NC_000006.12:g.36684186C>G, NC_000006.12:g.36684186C>T, NC_000006.11:g.36651963C>A, NC_000006.11:g.36651963C>G, NC_000006.11:g.36651963C>T, NG_009364.1:g.10505C>A, NG_009364.1:g.10505C>G, NG_009364.1:g.10505C>T, NM_000389.5:c.85C>A, NM_000389.5:c.85C>G, NM_000389.5:c.85C>T, NM_000389.4:c.85C>A, NM_000389.4:c.85C>G, NM_000389.4:c.85C>T, NM_001291549.3:c.187C>A, NM_001291549.3:c.187C>G, NM_001291549.3:c.187C>T, NM_001291549.2:c.187C>A, NM_001291549.2:c.187C>G, NM_001291549.2:c.187C>T, NM_001291549.1:c.187C>A, NM_001291549.1:c.187C>G, NM_001291549.1:c.187C>T, NM_078467.3:c.85C>A, NM_078467.3:c.85C>G, NM_078467.3:c.85C>T, NM_078467.2:c.85C>A, NM_078467.2:c.85C>G, NM_078467.2:c.85C>T, NM_001220778.2:c.85C>A, NM_001220778.2:c.85C>G, NM_001220778.2:c.85C>T, NM_001220778.1:c.85C>A, NM_001220778.1:c.85C>G, NM_001220778.1:c.85C>T, NM_001220777.2:c.85C>A, NM_001220777.2:c.85C>G, NM_001220777.2:c.85C>T, NM_001220777.1:c.85C>A, NM_001220777.1:c.85C>G, NM_001220777.1:c.85C>T, NM_001374512.1:c.85C>A, NM_001374512.1:c.85C>G, NM_001374512.1:c.85C>T, NM_001374509.1:c.187C>A, NM_001374509.1:c.187C>G, NM_001374509.1:c.187C>T, NM_001374513.1:c.85C>A, NM_001374513.1:c.85C>G, NM_001374513.1:c.85C>T, NM_001374511.1:c.85C>A, NM_001374511.1:c.85C>G, NM_001374511.1:c.85C>T, NM_001374510.1:c.124C>A, NM_001374510.1:c.124C>G, NM_001374510.1:c.124C>T, NR_037150.1:n.362C>A, NR_037150.1:n.362C>G, NR_037150.1:n.362C>T, NR_037151.1:n.320C>A, NR_037151.1:n.320C>G, NR_037151.1:n.320C>T, NR_037152.1:n.155C>A, NR_037152.1:n.155C>G, NR_037152.1:n.155C>T, NP_000380.1:p.Gln29Lys, NP_000380.1:p.Gln29Glu, NP_000380.1:p.Gln29Ter, NP_001278478.1:p.Gln63Lys, NP_001278478.1:p.Gln63Glu, NP_001278478.1:p.Gln63Ter, NP_510867.1:p.Gln29Lys, NP_510867.1:p.Gln29Glu, NP_510867.1:p.Gln29Ter, NP_001207707.1:p.Gln29Lys, NP_001207707.1:p.Gln29Glu, NP_001207707.1:p.Gln29Ter, NP_001207706.1:p.Gln29Lys, NP_001207706.1:p.Gln29Glu, NP_001207706.1:p.Gln29Ter, NP_001361441.1:p.Gln29Lys, NP_001361441.1:p.Gln29Glu, NP_001361441.1:p.Gln29Ter, NP_001361438.1:p.Gln63Lys, NP_001361438.1:p.Gln63Glu, NP_001361438.1:p.Gln63Ter, NP_001361442.1:p.Gln29Lys, NP_001361442.1:p.Gln29Glu, NP_001361442.1:p.Gln29Ter, NP_001361440.1:p.Gln29Lys, NP_001361440.1:p.Gln29Glu, NP_001361440.1:p.Gln29Ter, NP_001361439.1:p.Gln42Lys, NP_001361439.1:p.Gln42Glu, NP_001361439.1:p.Gln42Ter

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