SNP Links for Protein (Select 999809033) - SNP

Links from Protein

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Select item 14846162431.

rs1484616243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101592741 (GRCh38)
3:101311585 (GRCh37)
Canonical SPDI:: NC_000003.12:101592740:C:T
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101592741C>T, NC_000003.11:g.101311585C>T, NM_020357.3:c.525C>T, NM_020357.2:c.525C>T, NM_020357.1:c.525C>T, NR_135227.1:n.848C>T, NR_135229.1:n.776C>T, NM_001320399.1:c.465C>T, NR_135232.1:n.690C>T, NM_001320398.1:c.522C>T, NR_135223.1:n.595C>T, NR_135225.1:n.592C>T, NM_001320395.1:c.*76C>T, NM_001320401.1:c.450C>T, NM_001320397.1:c.426C>T, NR_135228.1:n.539C>T, NR_135230.1:n.520C>T, NM_001320400.1:c.*76C>T, NR_135226.1:n.464C>T, NR_135224.1:n.432C>T, NR_135231.1:n.357C>T

Select item 14838799282.

rs1483879928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101579989 (GRCh38)
3:101298833 (GRCh37)
Canonical SPDI:: NC_000003.12:101579988:C:T
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101579989C>T, NC_000003.11:g.101298833C>T, NM_020357.3:c.264C>T, NM_020357.2:c.264C>T, NM_020357.1:c.264C>T, NR_135227.1:n.587C>T, NM_001320399.1:c.204C>T, NR_135232.1:n.429C>T, NM_001320398.1:c.264C>T, NR_135223.1:n.334C>T, NR_135225.1:n.334C>T, NM_001320395.1:c.264C>T, NM_001320401.1:c.264C>T, NR_135228.1:n.334C>T, NR_135230.1:n.334C>T, NM_001320400.1:c.264C>T, NR_135226.1:n.334C>T

Select item 14717343173.

rs1471734317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:101574249 (GRCh38)
3:101293093 (GRCh37)
Canonical SPDI:: NC_000003.12:101574248:G:A,NC_000003.12:101574248:G:C
Gene:: PCNP (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101574249G>A, NC_000003.12:g.101574249G>C, NC_000003.11:g.101293093G>A, NC_000003.11:g.101293093G>C, NM_020357.3:c.34G>A, NM_020357.3:c.34G>C, NM_020357.2:c.34G>A, NM_020357.2:c.34G>C, NM_020357.1:c.34G>A, NM_020357.1:c.34G>C, NR_135227.1:n.156G>A, NR_135227.1:n.156G>C, NR_135229.1:n.156G>A, NR_135229.1:n.156G>C, NM_001320399.1:c.-153G>A, NM_001320399.1:c.-153G>C, NR_135232.1:n.156G>A, NR_135232.1:n.156G>C, NM_001320398.1:c.34G>A, NM_001320398.1:c.34G>C, NR_135223.1:n.156G>A, NR_135223.1:n.156G>C, NR_135225.1:n.156G>A, NR_135225.1:n.156G>C, NM_001320395.1:c.34G>A, NM_001320395.1:c.34G>C, NM_001320401.1:c.34G>A, NM_001320401.1:c.34G>C, NM_001320397.1:c.34G>A, NM_001320397.1:c.34G>C, NR_135228.1:n.156G>A, NR_135228.1:n.156G>C, NR_135230.1:n.156G>A, NR_135230.1:n.156G>C, NM_001320400.1:c.34G>A, NM_001320400.1:c.34G>C, NR_135226.1:n.156G>A, NR_135226.1:n.156G>C, NR_135224.1:n.156G>A, NR_135224.1:n.156G>C, NR_135231.1:n.156G>A, NR_135231.1:n.156G>C, NP_065090.1:p.Glu12Lys, NP_065090.1:p.Glu12Gln, NP_001307327.1:p.Glu12Lys, NP_001307327.1:p.Glu12Gln, NP_001307324.1:p.Glu12Lys, NP_001307324.1:p.Glu12Gln, NP_001307330.1:p.Glu12Lys, NP_001307330.1:p.Glu12Gln, NP_001307326.1:p.Glu12Lys, NP_001307326.1:p.Glu12Gln, NP_001307329.1:p.Glu12Lys, NP_001307329.1:p.Glu12Gln

Select item 14663543354.

rs1466354335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:101574254 (GRCh38)
3:101293098 (GRCh37)
Canonical SPDI:: NC_000003.12:101574253:G:A,NC_000003.12:101574253:G:C
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101574254G>A, NC_000003.12:g.101574254G>C, NC_000003.11:g.101293098G>A, NC_000003.11:g.101293098G>C, NM_020357.3:c.39G>A, NM_020357.3:c.39G>C, NM_020357.2:c.39G>A, NM_020357.2:c.39G>C, NM_020357.1:c.39G>A, NM_020357.1:c.39G>C, NR_135227.1:n.161G>A, NR_135227.1:n.161G>C, NR_135229.1:n.161G>A, NR_135229.1:n.161G>C, NM_001320399.1:c.-148G>A, NM_001320399.1:c.-148G>C, NR_135232.1:n.161G>A, NR_135232.1:n.161G>C, NM_001320398.1:c.39G>A, NM_001320398.1:c.39G>C, NR_135223.1:n.161G>A, NR_135223.1:n.161G>C, NR_135225.1:n.161G>A, NR_135225.1:n.161G>C, NM_001320395.1:c.39G>A, NM_001320395.1:c.39G>C, NM_001320401.1:c.39G>A, NM_001320401.1:c.39G>C, NM_001320397.1:c.39G>A, NM_001320397.1:c.39G>C, NR_135228.1:n.161G>A, NR_135228.1:n.161G>C, NR_135230.1:n.161G>A, NR_135230.1:n.161G>C, NM_001320400.1:c.39G>A, NM_001320400.1:c.39G>C, NR_135226.1:n.161G>A, NR_135226.1:n.161G>C, NR_135224.1:n.161G>A, NR_135224.1:n.161G>C, NR_135231.1:n.161G>A, NR_135231.1:n.161G>C, NP_065090.1:p.Lys13Asn, NP_001307327.1:p.Lys13Asn, NP_001307324.1:p.Lys13Asn, NP_001307330.1:p.Lys13Asn, NP_001307326.1:p.Lys13Asn, NP_001307329.1:p.Lys13Asn

Select item 14587911045.

rs1458791104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101579849 (GRCh38)
3:101298693 (GRCh37)
Canonical SPDI:: NC_000003.12:101579848:G:A
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101579849G>A, NC_000003.11:g.101298693G>A, NM_020357.3:c.124G>A, NM_020357.2:c.124G>A, NM_020357.1:c.124G>A, NR_135227.1:n.447G>A, NM_001320399.1:c.64G>A, NR_135232.1:n.289G>A, NM_001320398.1:c.124G>A, NR_135223.1:n.194G>A, NR_135225.1:n.194G>A, NM_001320395.1:c.124G>A, NM_001320401.1:c.124G>A, NM_001320397.1:c.124G>A, NR_135228.1:n.194G>A, NR_135230.1:n.194G>A, NM_001320400.1:c.124G>A, NR_135226.1:n.194G>A, NP_065090.1:p.Gly42Arg, NP_001307328.1:p.Gly22Arg, NP_001307327.1:p.Gly42Arg, NP_001307324.1:p.Gly42Arg, NP_001307330.1:p.Gly42Arg, NP_001307326.1:p.Gly42Arg, NP_001307329.1:p.Gly42Arg

Select item 14482831996.

rs1448283199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:101579910 (GRCh38)
3:101298754 (GRCh37)
Canonical SPDI:: NC_000003.12:101579909:C:A
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.101579910C>A, NC_000003.11:g.101298754C>A, NM_020357.3:c.185C>A, NM_020357.2:c.185C>A, NM_020357.1:c.185C>A, NR_135227.1:n.508C>A, NM_001320399.1:c.125C>A, NR_135232.1:n.350C>A, NM_001320398.1:c.185C>A, NR_135223.1:n.255C>A, NR_135225.1:n.255C>A, NM_001320395.1:c.185C>A, NM_001320401.1:c.185C>A, NM_001320397.1:c.185C>A, NR_135228.1:n.255C>A, NR_135230.1:n.255C>A, NM_001320400.1:c.185C>A, NR_135226.1:n.255C>A, NP_065090.1:p.Pro62Gln, NP_001307328.1:p.Pro42Gln, NP_001307327.1:p.Pro62Gln, NP_001307324.1:p.Pro62Gln, NP_001307330.1:p.Pro62Gln, NP_001307326.1:p.Pro62Gln, NP_001307329.1:p.Pro62Gln

Select item 14464109847.

rs1446410984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101574275 (GRCh38)
3:101293119 (GRCh37)
Canonical SPDI:: NC_000003.12:101574274:C:T
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101574275C>T, NC_000003.11:g.101293119C>T, NM_020357.3:c.60C>T, NM_020357.2:c.60C>T, NM_020357.1:c.60C>T, NR_135227.1:n.182C>T, NR_135229.1:n.182C>T, NM_001320399.1:c.-127C>T, NR_135232.1:n.182C>T, NM_001320398.1:c.60C>T, NR_135223.1:n.182C>T, NR_135225.1:n.182C>T, NM_001320395.1:c.60C>T, NM_001320401.1:c.60C>T, NM_001320397.1:c.60C>T, NR_135228.1:n.182C>T, NR_135230.1:n.182C>T, NM_001320400.1:c.60C>T, NR_135226.1:n.182C>T, NR_135224.1:n.182C>T, NR_135231.1:n.182C>T

Select item 14460534078.

rs1446053407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101590216 (GRCh38)
3:101309060 (GRCh37)
Canonical SPDI:: NC_000003.12:101590215:G:A
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.101590216G>A, NC_000003.11:g.101309060G>A, NM_020357.3:c.356G>A, NM_020357.2:c.356G>A, NM_020357.1:c.356G>A, NR_135227.1:n.679G>A, NR_135229.1:n.607G>A, NM_001320399.1:c.296G>A, NR_135232.1:n.521G>A, NM_001320398.1:c.353G>A, NR_135223.1:n.426G>A, NR_135225.1:n.423G>A, NM_001320401.1:c.281G>A, NM_001320397.1:c.257G>A, NR_135230.1:n.351G>A, NR_135224.1:n.263G>A, NR_135231.1:n.188G>A, NP_065090.1:p.Ser119Asn, NP_001307328.1:p.Ser99Asn, NP_001307327.1:p.Ser118Asn, NP_001307330.1:p.Ser94Asn, NP_001307326.1:p.Ser86Asn

Select item 14419463079.

rs1441946307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101580000 (GRCh38)
3:101298844 (GRCh37)
Canonical SPDI:: NC_000003.12:101579999:C:T
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.101580000C>T, NC_000003.11:g.101298844C>T, NM_020357.3:c.275C>T, NM_020357.2:c.275C>T, NM_020357.1:c.275C>T, NR_135227.1:n.598C>T, NM_001320399.1:c.215C>T, NR_135232.1:n.440C>T, NM_001320398.1:c.275C>T, NR_135223.1:n.345C>T, NR_135225.1:n.345C>T, NM_001320395.1:c.275C>T, NM_001320401.1:c.275C>T, NR_135228.1:n.345C>T, NR_135230.1:n.345C>T, NM_001320400.1:c.275C>T, NR_135226.1:n.345C>T, NP_065090.1:p.Ser92Leu, NP_001307328.1:p.Ser72Leu, NP_001307327.1:p.Ser92Leu, NP_001307324.1:p.Ser92Leu, NP_001307330.1:p.Ser92Leu, NP_001307329.1:p.Ser92Leu

Select item 142538958910.

rs1425389589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:101585458 (GRCh38)
3:101304302 (GRCh37)
Canonical SPDI:: NC_000003.12:101585457:A:G
Gene:: PCNP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_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.101585458A>G, NC_000003.11:g.101304302A>G, NM_020357.3:c.301A>G, NM_020357.2:c.301A>G, NM_020357.1:c.301A>G, NR_135227.1:n.624A>G, NR_135229.1:n.552A>G, NM_001320399.1:c.241A>G, NR_135232.1:n.466A>G, NM_001320398.1:c.298A>G, NR_135223.1:n.371A>G, NR_135225.1:n.368A>G, NM_001320395.1:c.301A>G, NR_135228.1:n.371A>G, NR_135224.1:n.208A>G, NP_065090.1:p.Thr101Ala, NP_001307328.1:p.Thr81Ala, NP_001307327.1:p.Thr100Ala, NP_001307324.1:p.Thr101Ala

Select item 142484015411.

rs1424840154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:101579911 (GRCh38)
3:101298755 (GRCh37)
Canonical SPDI:: NC_000003.12:101579910:A:G
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.101579911A>G, NC_000003.11:g.101298755A>G, NM_020357.3:c.186A>G, NM_020357.2:c.186A>G, NM_020357.1:c.186A>G, NR_135227.1:n.509A>G, NM_001320399.1:c.126A>G, NR_135232.1:n.351A>G, NM_001320398.1:c.186A>G, NR_135223.1:n.256A>G, NR_135225.1:n.256A>G, NM_001320395.1:c.186A>G, NM_001320401.1:c.186A>G, NM_001320397.1:c.186A>G, NR_135228.1:n.256A>G, NR_135230.1:n.256A>G, NM_001320400.1:c.186A>G, NR_135226.1:n.256A>G

Select item 141334146112.

rs1413341461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101592707 (GRCh38)
3:101311551 (GRCh37)
Canonical SPDI:: NC_000003.12:101592706:G:A
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/5 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.101592707G>A, NC_000003.11:g.101311551G>A, NM_020357.3:c.491G>A, NM_020357.2:c.491G>A, NM_020357.1:c.491G>A, NR_135227.1:n.814G>A, NR_135229.1:n.742G>A, NM_001320399.1:c.431G>A, NR_135232.1:n.656G>A, NM_001320398.1:c.488G>A, NR_135223.1:n.561G>A, NR_135225.1:n.558G>A, NM_001320395.1:c.*42G>A, NM_001320401.1:c.416G>A, NM_001320397.1:c.392G>A, NR_135228.1:n.505G>A, NR_135230.1:n.486G>A, NM_001320400.1:c.*42G>A, NR_135226.1:n.430G>A, NR_135224.1:n.398G>A, NR_135231.1:n.323G>A, NP_065090.1:p.Arg164Gln, NP_001307328.1:p.Arg144Gln, NP_001307327.1:p.Arg163Gln, NP_001307330.1:p.Arg139Gln, NP_001307326.1:p.Arg131Gln

Select item 140942052313.

rs1409420523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101592677 (GRCh38)
3:101311521 (GRCh37)
Canonical SPDI:: NC_000003.12:101592676:G:A
Gene:: PCNP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101592677G>A, NC_000003.11:g.101311521G>A, NM_020357.3:c.461G>A, NM_020357.2:c.461G>A, NM_020357.1:c.461G>A, NR_135227.1:n.784G>A, NR_135229.1:n.712G>A, NM_001320399.1:c.401G>A, NR_135232.1:n.626G>A, NM_001320398.1:c.458G>A, NR_135223.1:n.531G>A, NR_135225.1:n.528G>A, NM_001320395.1:c.*12G>A, NM_001320401.1:c.386G>A, NM_001320397.1:c.362G>A, NR_135228.1:n.475G>A, NR_135230.1:n.456G>A, NM_001320400.1:c.*12G>A, NR_135226.1:n.400G>A, NR_135224.1:n.368G>A, NR_135231.1:n.293G>A, NP_065090.1:p.Gly154Glu, NP_001307328.1:p.Gly134Glu, NP_001307327.1:p.Gly153Glu, NP_001307330.1:p.Gly129Glu, NP_001307326.1:p.Gly121Glu

Select item 139837499114.

rs1398374991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101574261 (GRCh38)
3:101293105 (GRCh37)
Canonical SPDI:: NC_000003.12:101574260:C:T
Gene:: PCNP (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
HGVS:: NC_000003.12:g.101574261C>T, NC_000003.11:g.101293105C>T, NM_020357.3:c.46C>T, NM_020357.2:c.46C>T, NM_020357.1:c.46C>T, NR_135227.1:n.168C>T, NR_135229.1:n.168C>T, NM_001320399.1:c.-141C>T, NR_135232.1:n.168C>T, NM_001320398.1:c.46C>T, NR_135223.1:n.168C>T, NR_135225.1:n.168C>T, NM_001320395.1:c.46C>T, NM_001320401.1:c.46C>T, NM_001320397.1:c.46C>T, NR_135228.1:n.168C>T, NR_135230.1:n.168C>T, NM_001320400.1:c.46C>T, NR_135226.1:n.168C>T, NR_135224.1:n.168C>T, NR_135231.1:n.168C>T, NP_065090.1:p.Arg16Ter, NP_001307327.1:p.Arg16Ter, NP_001307324.1:p.Arg16Ter, NP_001307330.1:p.Arg16Ter, NP_001307326.1:p.Arg16Ter, NP_001307329.1:p.Arg16Ter

Select item 138094807015.

rs1380948070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:101579792 (GRCh38)
3:101298636 (GRCh37)
Canonical SPDI:: NC_000003.12:101579791:C:G
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101579792C>G, NC_000003.11:g.101298636C>G, NM_020357.3:c.67C>G, NM_020357.2:c.67C>G, NM_020357.1:c.67C>G, NR_135227.1:n.390C>G, NM_001320398.1:c.67C>G, NM_001320395.1:c.67C>G, NM_001320401.1:c.67C>G, NM_001320397.1:c.67C>G, NM_001320400.1:c.67C>G, NP_065090.1:p.Pro23Ala, NP_001307327.1:p.Pro23Ala, NP_001307324.1:p.Pro23Ala, NP_001307330.1:p.Pro23Ala, NP_001307326.1:p.Pro23Ala, NP_001307329.1:p.Pro23Ala

Select item 137981020116.

rs1379810201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:101579951 (GRCh38)
3:101298795 (GRCh37)
Canonical SPDI:: NC_000003.12:101579950:G:A
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_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)
A=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.101579951G>A, NC_000003.11:g.101298795G>A, NM_020357.3:c.226G>A, NM_020357.2:c.226G>A, NM_020357.1:c.226G>A, NR_135227.1:n.549G>A, NM_001320399.1:c.166G>A, NR_135232.1:n.391G>A, NM_001320398.1:c.226G>A, NR_135223.1:n.296G>A, NR_135225.1:n.296G>A, NM_001320395.1:c.226G>A, NM_001320401.1:c.226G>A, NM_001320397.1:c.226G>A, NR_135228.1:n.296G>A, NR_135230.1:n.296G>A, NM_001320400.1:c.226G>A, NR_135226.1:n.296G>A, NP_065090.1:p.Gly76Ser, NP_001307328.1:p.Gly56Ser, NP_001307327.1:p.Gly76Ser, NP_001307324.1:p.Gly76Ser, NP_001307330.1:p.Gly76Ser, NP_001307326.1:p.Val76Ile, NP_001307329.1:p.Gly76Ser

Select item 137469266617.

rs1374692666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:101574220 (GRCh38)
3:101293064 (GRCh37)
Canonical SPDI:: NC_000003.12:101574219:C:G,NC_000003.12:101574219:C:T
Gene:: PCNP (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.101574220C>G, NC_000003.12:g.101574220C>T, NC_000003.11:g.101293064C>G, NC_000003.11:g.101293064C>T, NM_020357.3:c.5C>G, NM_020357.3:c.5C>T, NM_020357.2:c.5C>G, NM_020357.2:c.5C>T, NM_020357.1:c.5C>G, NM_020357.1:c.5C>T, NR_135227.1:n.127C>G, NR_135227.1:n.127C>T, NR_135229.1:n.127C>G, NR_135229.1:n.127C>T, NM_001320399.1:c.-182C>G, NM_001320399.1:c.-182C>T, NR_135232.1:n.127C>G, NR_135232.1:n.127C>T, NM_001320398.1:c.5C>G, NM_001320398.1:c.5C>T, NR_135223.1:n.127C>G, NR_135223.1:n.127C>T, NR_135225.1:n.127C>G, NR_135225.1:n.127C>T, NM_001320395.1:c.5C>G, NM_001320395.1:c.5C>T, NM_001320401.1:c.5C>G, NM_001320401.1:c.5C>T, NM_001320397.1:c.5C>G, NM_001320397.1:c.5C>T, NR_135228.1:n.127C>G, NR_135228.1:n.127C>T, NR_135230.1:n.127C>G, NR_135230.1:n.127C>T, NM_001320400.1:c.5C>G, NM_001320400.1:c.5C>T, NR_135226.1:n.127C>G, NR_135226.1:n.127C>T, NR_135224.1:n.127C>G, NR_135224.1:n.127C>T, NR_135231.1:n.127C>G, NR_135231.1:n.127C>T, NP_065090.1:p.Ala2Gly, NP_065090.1:p.Ala2Val, NP_001307327.1:p.Ala2Gly, NP_001307327.1:p.Ala2Val, NP_001307324.1:p.Ala2Gly, NP_001307324.1:p.Ala2Val, NP_001307330.1:p.Ala2Gly, NP_001307330.1:p.Ala2Val, NP_001307326.1:p.Ala2Gly, NP_001307326.1:p.Ala2Val, NP_001307329.1:p.Ala2Gly, NP_001307329.1:p.Ala2Val

Select item 136369454018.

rs1363694540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:101579804 (GRCh38)
3:101298648 (GRCh37)
Canonical SPDI:: NC_000003.12:101579803:G:T
Gene:: PCNP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.101579804G>T, NC_000003.11:g.101298648G>T, NM_020357.3:c.79G>T, NM_020357.2:c.79G>T, NM_020357.1:c.79G>T, NR_135227.1:n.402G>T, NM_001320398.1:c.79G>T, NM_001320395.1:c.79G>T, NM_001320401.1:c.79G>T, NM_001320397.1:c.79G>T, NM_001320400.1:c.79G>T, NP_065090.1:p.Ala27Ser, NP_001307327.1:p.Ala27Ser, NP_001307324.1:p.Ala27Ser, NP_001307330.1:p.Ala27Ser, NP_001307326.1:p.Ala27Ser, NP_001307329.1:p.Ala27Ser

Select item 136139727719.

rs1361397277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:101592706 (GRCh38)
3:101311550 (GRCh37)
Canonical SPDI:: NC_000003.12:101592705:C:T
Gene:: PCNP (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.101592706C>T, NC_000003.11:g.101311550C>T, NM_020357.3:c.490C>T, NM_020357.2:c.490C>T, NM_020357.1:c.490C>T, NR_135227.1:n.813C>T, NR_135229.1:n.741C>T, NM_001320399.1:c.430C>T, NR_135232.1:n.655C>T, NM_001320398.1:c.487C>T, NR_135223.1:n.560C>T, NR_135225.1:n.557C>T, NM_001320395.1:c.*41C>T, NM_001320401.1:c.415C>T, NM_001320397.1:c.391C>T, NR_135228.1:n.504C>T, NR_135230.1:n.485C>T, NM_001320400.1:c.*41C>T, NR_135226.1:n.429C>T, NR_135224.1:n.397C>T, NR_135231.1:n.322C>T, NP_065090.1:p.Arg164Ter, NP_001307328.1:p.Arg144Ter, NP_001307327.1:p.Arg163Ter, NP_001307330.1:p.Arg139Ter, NP_001307326.1:p.Arg131Ter

Select item 135590160320.

rs1355901603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:101579845 (GRCh38)
3:101298689 (GRCh37)
Canonical SPDI:: NC_000003.12:101579844:T:C
Gene:: PCNP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.101579845T>C, NC_000003.11:g.101298689T>C, NM_020357.3:c.120T>C, NM_020357.2:c.120T>C, NM_020357.1:c.120T>C, NR_135227.1:n.443T>C, NM_001320399.1:c.60T>C, NR_135232.1:n.285T>C, NM_001320398.1:c.120T>C, NR_135223.1:n.190T>C, NR_135225.1:n.190T>C, NM_001320395.1:c.120T>C, NM_001320401.1:c.120T>C, NM_001320397.1:c.120T>C, NR_135228.1:n.190T>C, NR_135230.1:n.190T>C, NM_001320400.1:c.120T>C, NR_135226.1:n.190T>C

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