SNP Links for Protein (Select 33356177) - SNP

Links from Protein

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Select item 14886729071.

rs1488672907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:112454612 (GRCh38)
12:112892416 (GRCh37)
Canonical SPDI:: NC_000012.12:112454611:G:A,NC_000012.12:112454611:G:C,NC_000012.12:112454611:G:T
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.112454612G>A, NC_000012.12:g.112454612G>C, NC_000012.12:g.112454612G>T, NC_000012.11:g.112892416G>A, NC_000012.11:g.112892416G>C, NC_000012.11:g.112892416G>T, NG_007459.1:g.40881G>A, NG_007459.1:g.40881G>C, NG_007459.1:g.40881G>T, NM_002834.5:c.574G>A, NM_002834.5:c.574G>C, NM_002834.5:c.574G>T, NM_002834.4:c.574G>A, NM_002834.4:c.574G>C, NM_002834.4:c.574G>T, NM_002834.3:c.574G>A, NM_002834.3:c.574G>C, NM_002834.3:c.574G>T, NM_080601.3:c.574G>A, NM_080601.3:c.574G>C, NM_080601.3:c.574G>T, NM_080601.2:c.574G>A, NM_080601.2:c.574G>C, NM_080601.2:c.574G>T, NM_080601.1:c.574G>A, NM_080601.1:c.574G>C, NM_080601.1:c.574G>T, NM_001330437.2:c.574G>A, NM_001330437.2:c.574G>C, NM_001330437.2:c.574G>T, NM_001330437.1:c.574G>A, NM_001330437.1:c.574G>C, NM_001330437.1:c.574G>T, NM_001374625.1:c.571G>A, NM_001374625.1:c.571G>C, NM_001374625.1:c.571G>T, XM_011538613.3:c.571G>A, XM_011538613.3:c.571G>C, XM_011538613.3:c.571G>T, XM_011538613.2:c.571G>A, XM_011538613.2:c.571G>C, XM_011538613.2:c.571G>T, XM_011538613.1:c.571G>A, XM_011538613.1:c.571G>C, XM_011538613.1:c.571G>T, NP_002825.3:p.Asp192Asn, NP_002825.3:p.Asp192His, NP_002825.3:p.Asp192Tyr, NP_542168.1:p.Asp192Asn, NP_542168.1:p.Asp192His, NP_542168.1:p.Asp192Tyr, NP_001317366.1:p.Asp192Asn, NP_001317366.1:p.Asp192His, NP_001317366.1:p.Asp192Tyr, NP_001361554.1:p.Asp191Asn, NP_001361554.1:p.Asp191His, NP_001361554.1:p.Asp191Tyr, XP_011536915.1:p.Asp191Asn, XP_011536915.1:p.Asp191His, XP_011536915.1:p.Asp191Tyr

Select item 14880108742.

rs1488010874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:112489128 (GRCh38)
12:112926932 (GRCh37)
Canonical SPDI:: NC_000012.12:112489127:G:A,NC_000012.12:112489127:G:C,NC_000012.12:112489127:G:T
Gene:: PTPN11 (Varview), LOC124903024 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.112489128G>A, NC_000012.12:g.112489128G>C, NC_000012.12:g.112489128G>T, NC_000012.11:g.112926932G>A, NC_000012.11:g.112926932G>C, NC_000012.11:g.112926932G>T, NG_007459.1:g.75397G>A, NG_007459.1:g.75397G>C, NG_007459.1:g.75397G>T, NM_002834.5:c.1552G>A, NM_002834.5:c.1552G>C, NM_002834.5:c.1552G>T, NM_002834.4:c.1552G>A, NM_002834.4:c.1552G>C, NM_002834.4:c.1552G>T, NM_002834.3:c.1552G>A, NM_002834.3:c.1552G>C, NM_002834.3:c.1552G>T, NM_001330437.2:c.1564G>A, NM_001330437.2:c.1564G>C, NM_001330437.2:c.1564G>T, NM_001330437.1:c.1564G>A, NM_001330437.1:c.1564G>C, NM_001330437.1:c.1564G>T, NM_001374625.1:c.1549G>A, NM_001374625.1:c.1549G>C, NM_001374625.1:c.1549G>T, XM_011538613.3:c.1561G>A, XM_011538613.3:c.1561G>C, XM_011538613.3:c.1561G>T, XM_011538613.2:c.1561G>A, XM_011538613.2:c.1561G>C, XM_011538613.2:c.1561G>T, XM_011538613.1:c.1561G>A, XM_011538613.1:c.1561G>C, XM_011538613.1:c.1561G>T, NP_002825.3:p.Val518Ile, NP_002825.3:p.Val518Leu, NP_002825.3:p.Val518Phe, NP_001317366.1:p.Val522Ile, NP_001317366.1:p.Val522Leu, NP_001317366.1:p.Val522Phe, NP_001361554.1:p.Val517Ile, NP_001361554.1:p.Val517Leu, NP_001361554.1:p.Val517Phe, XP_011536915.1:p.Val521Ile, XP_011536915.1:p.Val521Leu, XP_011536915.1:p.Val521Phe

Select item 14858095483.

rs1485809548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:112477686 (GRCh38)
12:112915490 (GRCh37)
Canonical SPDI:: NC_000012.12:112477685:C:A,NC_000012.12:112477685:C:G,NC_000012.12:112477685:C:T
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112477686C>A, NC_000012.12:g.112477686C>G, NC_000012.12:g.112477686C>T, NC_000012.11:g.112915490C>A, NC_000012.11:g.112915490C>G, NC_000012.11:g.112915490C>T, NG_007459.1:g.63955C>A, NG_007459.1:g.63955C>G, NG_007459.1:g.63955C>T, NM_002834.5:c.889C>A, NM_002834.5:c.889C>G, NM_002834.5:c.889C>T, NM_002834.4:c.889C>A, NM_002834.4:c.889C>G, NM_002834.4:c.889C>T, NM_002834.3:c.889C>A, NM_002834.3:c.889C>G, NM_002834.3:c.889C>T, NM_080601.3:c.889C>A, NM_080601.3:c.889C>G, NM_080601.3:c.889C>T, NM_080601.2:c.889C>A, NM_080601.2:c.889C>G, NM_080601.2:c.889C>T, NM_080601.1:c.889C>A, NM_080601.1:c.889C>G, NM_080601.1:c.889C>T, NM_001330437.2:c.889C>A, NM_001330437.2:c.889C>G, NM_001330437.2:c.889C>T, NM_001330437.1:c.889C>A, NM_001330437.1:c.889C>G, NM_001330437.1:c.889C>T, NM_001374625.1:c.886C>A, NM_001374625.1:c.886C>G, NM_001374625.1:c.886C>T, XM_011538613.3:c.886C>A, XM_011538613.3:c.886C>G, XM_011538613.3:c.886C>T, XM_011538613.2:c.886C>A, XM_011538613.2:c.886C>G, XM_011538613.2:c.886C>T, XM_011538613.1:c.886C>A, XM_011538613.1:c.886C>G, XM_011538613.1:c.886C>T, NP_002825.3:p.Pro297Thr, NP_002825.3:p.Pro297Ala, NP_002825.3:p.Pro297Ser, NP_542168.1:p.Pro297Thr, NP_542168.1:p.Pro297Ala, NP_542168.1:p.Pro297Ser, NP_001317366.1:p.Pro297Thr, NP_001317366.1:p.Pro297Ala, NP_001317366.1:p.Pro297Ser, NP_001361554.1:p.Pro296Thr, NP_001361554.1:p.Pro296Ala, NP_001361554.1:p.Pro296Ser, XP_011536915.1:p.Pro296Thr, XP_011536915.1:p.Pro296Ala, XP_011536915.1:p.Pro296Ser

Select item 14824102664.

rs1482410266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:112453210 (GRCh38)
12:112891014 (GRCh37)
Canonical SPDI:: NC_000012.12:112453209:T:A,NC_000012.12:112453209:T:C,NC_000012.12:112453209:T:G
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.112453210T>A, NC_000012.12:g.112453210T>C, NC_000012.12:g.112453210T>G, NC_000012.11:g.112891014T>A, NC_000012.11:g.112891014T>C, NC_000012.11:g.112891014T>G, NG_007459.1:g.39479T>A, NG_007459.1:g.39479T>C, NG_007459.1:g.39479T>G, NM_002834.5:c.348T>A, NM_002834.5:c.348T>C, NM_002834.5:c.348T>G, NM_002834.4:c.348T>A, NM_002834.4:c.348T>C, NM_002834.4:c.348T>G, NM_002834.3:c.348T>A, NM_002834.3:c.348T>C, NM_002834.3:c.348T>G, NM_080601.3:c.348T>A, NM_080601.3:c.348T>C, NM_080601.3:c.348T>G, NM_080601.2:c.348T>A, NM_080601.2:c.348T>C, NM_080601.2:c.348T>G, NM_080601.1:c.348T>A, NM_080601.1:c.348T>C, NM_080601.1:c.348T>G, NM_001330437.2:c.348T>A, NM_001330437.2:c.348T>C, NM_001330437.2:c.348T>G, NM_001330437.1:c.348T>A, NM_001330437.1:c.348T>C, NM_001330437.1:c.348T>G, NM_001374625.1:c.345T>A, NM_001374625.1:c.345T>C, NM_001374625.1:c.345T>G, XM_011538613.3:c.345T>A, XM_011538613.3:c.345T>C, XM_011538613.3:c.345T>G, XM_011538613.2:c.345T>A, XM_011538613.2:c.345T>C, XM_011538613.2:c.345T>G, XM_011538613.1:c.345T>A, XM_011538613.1:c.345T>C, XM_011538613.1:c.345T>G, NP_002825.3:p.His116Gln, NP_002825.3:p.His116Gln, NP_542168.1:p.His116Gln, NP_542168.1:p.His116Gln, NP_001317366.1:p.His116Gln, NP_001317366.1:p.His116Gln, NP_001361554.1:p.His115Gln, NP_001361554.1:p.His115Gln, XP_011536915.1:p.His115Gln, XP_011536915.1:p.His115Gln

Select item 14760835435.

rs1476083543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:112456004 (GRCh38)
12:112893808 (GRCh37)
Canonical SPDI:: NC_000012.12:112456003:C:T
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112456004C>T, NC_000012.11:g.112893808C>T, NG_007459.1:g.42273C>T, NM_002834.5:c.697C>T, NM_002834.4:c.697C>T, NM_002834.3:c.697C>T, NM_080601.3:c.697C>T, NM_080601.2:c.697C>T, NM_080601.1:c.697C>T, NM_001330437.2:c.697C>T, NM_001330437.1:c.697C>T, NM_001374625.1:c.694C>T, XM_011538613.3:c.694C>T, XM_011538613.2:c.694C>T, XM_011538613.1:c.694C>T

Select item 14739741326.

rs1473974132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:112477907 (GRCh38)
12:112915711 (GRCh37)
Canonical SPDI:: NC_000012.12:112477906:T:C
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.112477907T>C, NC_000012.11:g.112915711T>C, NG_007459.1:g.64176T>C, NM_002834.5:c.984T>C, NM_002834.4:c.984T>C, NM_002834.3:c.984T>C, NM_080601.3:c.984T>C, NM_080601.2:c.984T>C, NM_080601.1:c.984T>C, NM_001330437.2:c.984T>C, NM_001330437.1:c.984T>C, NM_001374625.1:c.981T>C, XM_011538613.3:c.981T>C, XM_011538613.2:c.981T>C, XM_011538613.1:c.981T>C

Select item 14723574307.

rs1472357430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:112446292 (GRCh38)
12:112884096 (GRCh37)
Canonical SPDI:: NC_000012.12:112446291:A:G
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.112446292A>G, NC_000012.11:g.112884096A>G, NG_007459.1:g.32561A>G, NM_002834.5:c.31A>G, NM_002834.4:c.31A>G, NM_002834.3:c.31A>G, NM_080601.3:c.31A>G, NM_080601.2:c.31A>G, NM_080601.1:c.31A>G, NM_001330437.2:c.31A>G, NM_001330437.1:c.31A>G, NM_001374625.1:c.31A>G, XM_011538613.3:c.31A>G, XM_011538613.2:c.31A>G, XM_011538613.1:c.31A>G, NP_002825.3:p.Ile11Val, NP_542168.1:p.Ile11Val, NP_001317366.1:p.Ile11Val, NP_001361554.1:p.Ile11Val, XP_011536915.1:p.Ile11Val

Select item 14659104288.

rs1465910428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:112473027 (GRCh38)
12:112910831 (GRCh37)
Canonical SPDI:: NC_000012.12:112473026:A:G
Gene:: PTPN11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.112473027A>G, NC_000012.11:g.112910831A>G, NG_007459.1:g.59296A>G, NM_002834.5:c.840A>G, NM_002834.4:c.840A>G, NM_002834.3:c.840A>G, NM_080601.3:c.840A>G, NM_080601.2:c.840A>G, NM_080601.1:c.840A>G, NM_001330437.2:c.840A>G, NM_001330437.1:c.840A>G, NM_001374625.1:c.837A>G, XM_011538613.3:c.837A>G, XM_011538613.2:c.837A>G, XM_011538613.1:c.837A>G

Select item 14649472499.

rs1464947249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:112486607 (GRCh38)
12:112924411 (GRCh37)
Canonical SPDI:: NC_000012.12:112486606:G:A,NC_000012.12:112486606:G:C
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112486607G>A, NC_000012.12:g.112486607G>C, NC_000012.11:g.112924411G>A, NC_000012.11:g.112924411G>C, NG_007459.1:g.72876G>A, NG_007459.1:g.72876G>C, NM_002834.5:c.1357G>A, NM_002834.5:c.1357G>C, NM_002834.4:c.1357G>A, NM_002834.4:c.1357G>C, NM_002834.3:c.1357G>A, NM_002834.3:c.1357G>C, NM_080601.3:c.1357G>A, NM_080601.3:c.1357G>C, NM_080601.2:c.1357G>A, NM_080601.2:c.1357G>C, NM_080601.1:c.1357G>A, NM_080601.1:c.1357G>C, NM_001330437.2:c.1369G>A, NM_001330437.2:c.1369G>C, NM_001330437.1:c.1369G>A, NM_001330437.1:c.1369G>C, NM_001374625.1:c.1354G>A, NM_001374625.1:c.1354G>C, XM_011538613.3:c.1366G>A, XM_011538613.3:c.1366G>C, XM_011538613.2:c.1366G>A, XM_011538613.2:c.1366G>C, XM_011538613.1:c.1366G>A, XM_011538613.1:c.1366G>C, NP_002825.3:p.Gly453Arg, NP_002825.3:p.Gly453Arg, NP_542168.1:p.Gly453Arg, NP_542168.1:p.Gly453Arg, NP_001317366.1:p.Gly457Arg, NP_001317366.1:p.Gly457Arg, NP_001361554.1:p.Gly452Arg, NP_001361554.1:p.Gly452Arg, XP_011536915.1:p.Gly456Arg, XP_011536915.1:p.Gly456Arg

Select item 146422194410.

rs1464221944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:112489076 (GRCh38)
12:112926880 (GRCh37)
Canonical SPDI:: NC_000012.12:112489075:G:A,NC_000012.12:112489075:G:C,NC_000012.12:112489075:G:T
Gene:: PTPN11 (Varview), LOC124903024 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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_000012.12:g.112489076G>A, NC_000012.12:g.112489076G>C, NC_000012.12:g.112489076G>T, NC_000012.11:g.112926880G>A, NC_000012.11:g.112926880G>C, NC_000012.11:g.112926880G>T, NG_007459.1:g.75345G>A, NG_007459.1:g.75345G>C, NG_007459.1:g.75345G>T, NM_002834.5:c.1500G>A, NM_002834.5:c.1500G>C, NM_002834.5:c.1500G>T, NM_002834.4:c.1500G>A, NM_002834.4:c.1500G>C, NM_002834.4:c.1500G>T, NM_002834.3:c.1500G>A, NM_002834.3:c.1500G>C, NM_002834.3:c.1500G>T, NM_001330437.2:c.1512G>A, NM_001330437.2:c.1512G>C, NM_001330437.2:c.1512G>T, NM_001330437.1:c.1512G>A, NM_001330437.1:c.1512G>C, NM_001330437.1:c.1512G>T, NM_001374625.1:c.1497G>A, NM_001374625.1:c.1497G>C, NM_001374625.1:c.1497G>T, XM_011538613.3:c.1509G>A, XM_011538613.3:c.1509G>C, XM_011538613.3:c.1509G>T, XM_011538613.2:c.1509G>A, XM_011538613.2:c.1509G>C, XM_011538613.2:c.1509G>T, XM_011538613.1:c.1509G>A, XM_011538613.1:c.1509G>C, XM_011538613.1:c.1509G>T, NP_002825.3:p.Gln500His, NP_002825.3:p.Gln500His, NP_001317366.1:p.Gln504His, NP_001317366.1:p.Gln504His, NP_001361554.1:p.Gln499His, NP_001361554.1:p.Gln499His, XP_011536915.1:p.Gln503His, XP_011536915.1:p.Gln503His

Select item 146020471211.

rs1460204712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:112453362 (GRCh38)
12:112891166 (GRCh37)
Canonical SPDI:: NC_000012.12:112453361:T:A,NC_000012.12:112453361:T:C
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112453362T>A, NC_000012.12:g.112453362T>C, NC_000012.11:g.112891166T>A, NC_000012.11:g.112891166T>C, NG_007459.1:g.39631T>A, NG_007459.1:g.39631T>C, NM_002834.5:c.500T>A, NM_002834.5:c.500T>C, NM_002834.4:c.500T>A, NM_002834.4:c.500T>C, NM_002834.3:c.500T>A, NM_002834.3:c.500T>C, NM_080601.3:c.500T>A, NM_080601.3:c.500T>C, NM_080601.2:c.500T>A, NM_080601.2:c.500T>C, NM_080601.1:c.500T>A, NM_080601.1:c.500T>C, NM_001330437.2:c.500T>A, NM_001330437.2:c.500T>C, NM_001330437.1:c.500T>A, NM_001330437.1:c.500T>C, NM_001374625.1:c.497T>A, NM_001374625.1:c.497T>C, XM_011538613.3:c.497T>A, XM_011538613.3:c.497T>C, XM_011538613.2:c.497T>A, XM_011538613.2:c.497T>C, XM_011538613.1:c.497T>A, XM_011538613.1:c.497T>C, NP_002825.3:p.Val167Glu, NP_002825.3:p.Val167Ala, NP_542168.1:p.Val167Glu, NP_542168.1:p.Val167Ala, NP_001317366.1:p.Val167Glu, NP_001317366.1:p.Val167Ala, NP_001361554.1:p.Val166Glu, NP_001361554.1:p.Val166Ala, XP_011536915.1:p.Val166Glu, XP_011536915.1:p.Val166Ala

Select item 145814168312.

rs1458141683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:112486533 (GRCh38)
12:112924337 (GRCh37)
Canonical SPDI:: NC_000012.12:112486532:T:A,NC_000012.12:112486532:T:C,NC_000012.12:112486532:T:G
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.112486533T>A, NC_000012.12:g.112486533T>C, NC_000012.12:g.112486533T>G, NC_000012.11:g.112924337T>A, NC_000012.11:g.112924337T>C, NC_000012.11:g.112924337T>G, NG_007459.1:g.72802T>A, NG_007459.1:g.72802T>C, NG_007459.1:g.72802T>G, NM_002834.5:c.1283T>A, NM_002834.5:c.1283T>C, NM_002834.5:c.1283T>G, NM_002834.4:c.1283T>A, NM_002834.4:c.1283T>C, NM_002834.4:c.1283T>G, NM_002834.3:c.1283T>A, NM_002834.3:c.1283T>C, NM_002834.3:c.1283T>G, NM_080601.3:c.1283T>A, NM_080601.3:c.1283T>C, NM_080601.3:c.1283T>G, NM_080601.2:c.1283T>A, NM_080601.2:c.1283T>C, NM_080601.2:c.1283T>G, NM_080601.1:c.1283T>A, NM_080601.1:c.1283T>C, NM_080601.1:c.1283T>G, NM_001330437.2:c.1295T>A, NM_001330437.2:c.1295T>C, NM_001330437.2:c.1295T>G, NM_001330437.1:c.1295T>A, NM_001330437.1:c.1295T>C, NM_001330437.1:c.1295T>G, NM_001374625.1:c.1280T>A, NM_001374625.1:c.1280T>C, NM_001374625.1:c.1280T>G, XM_011538613.3:c.1292T>A, XM_011538613.3:c.1292T>C, XM_011538613.3:c.1292T>G, XM_011538613.2:c.1292T>A, XM_011538613.2:c.1292T>C, XM_011538613.2:c.1292T>G, XM_011538613.1:c.1292T>A, XM_011538613.1:c.1292T>C, XM_011538613.1:c.1292T>G, NP_002825.3:p.Val428Glu, NP_002825.3:p.Val428Ala, NP_002825.3:p.Val428Gly, NP_542168.1:p.Val428Glu, NP_542168.1:p.Val428Ala, NP_542168.1:p.Val428Gly, NP_001317366.1:p.Val432Glu, NP_001317366.1:p.Val432Ala, NP_001317366.1:p.Val432Gly, NP_001361554.1:p.Val427Glu, NP_001361554.1:p.Val427Ala, NP_001361554.1:p.Val427Gly, XP_011536915.1:p.Val431Glu, XP_011536915.1:p.Val431Ala, XP_011536915.1:p.Val431Gly

Select item 145636039213.

rs1456360392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:112450404 (GRCh38)
12:112888208 (GRCh37)
Canonical SPDI:: NC_000012.12:112450403:C:A,NC_000012.12:112450403:C:G,NC_000012.12:112450403:C:T
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112450404C>A, NC_000012.12:g.112450404C>G, NC_000012.12:g.112450404C>T, NC_000012.11:g.112888208C>A, NC_000012.11:g.112888208C>G, NC_000012.11:g.112888208C>T, NG_007459.1:g.36673C>A, NG_007459.1:g.36673C>G, NG_007459.1:g.36673C>T, NM_002834.5:c.224C>A, NM_002834.5:c.224C>G, NM_002834.5:c.224C>T, NM_002834.4:c.224C>A, NM_002834.4:c.224C>G, NM_002834.4:c.224C>T, NM_002834.3:c.224C>A, NM_002834.3:c.224C>G, NM_002834.3:c.224C>T, NM_080601.3:c.224C>A, NM_080601.3:c.224C>G, NM_080601.3:c.224C>T, NM_080601.2:c.224C>A, NM_080601.2:c.224C>G, NM_080601.2:c.224C>T, NM_080601.1:c.224C>A, NM_080601.1:c.224C>G, NM_080601.1:c.224C>T, NM_001330437.2:c.224C>A, NM_001330437.2:c.224C>G, NM_001330437.2:c.224C>T, NM_001330437.1:c.224C>A, NM_001330437.1:c.224C>G, NM_001330437.1:c.224C>T, NM_001374625.1:c.221C>A, NM_001374625.1:c.221C>G, NM_001374625.1:c.221C>T, XM_011538613.3:c.221C>A, XM_011538613.3:c.221C>G, XM_011538613.3:c.221C>T, XM_011538613.2:c.221C>A, XM_011538613.2:c.221C>G, XM_011538613.2:c.221C>T, XM_011538613.1:c.221C>A, XM_011538613.1:c.221C>G, XM_011538613.1:c.221C>T, NP_002825.3:p.Ala75Asp, NP_002825.3:p.Ala75Gly, NP_002825.3:p.Ala75Val, NP_542168.1:p.Ala75Asp, NP_542168.1:p.Ala75Gly, NP_542168.1:p.Ala75Val, NP_001317366.1:p.Ala75Asp, NP_001317366.1:p.Ala75Gly, NP_001317366.1:p.Ala75Val, NP_001361554.1:p.Ala74Asp, NP_001361554.1:p.Ala74Gly, NP_001361554.1:p.Ala74Val, XP_011536915.1:p.Ala74Asp, XP_011536915.1:p.Ala74Gly, XP_011536915.1:p.Ala74Val

Select item 144523047514.

rs1445230475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:112477943 (GRCh38)
12:112915747 (GRCh37)
Canonical SPDI:: NC_000012.12:112477942:C:T
Gene:: PTPN11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112477943C>T, NC_000012.11:g.112915747C>T, NG_007459.1:g.64212C>T, NM_002834.5:c.1020C>T, NM_002834.4:c.1020C>T, NM_002834.3:c.1020C>T, NM_080601.3:c.1020C>T, NM_080601.2:c.1020C>T, NM_080601.1:c.1020C>T, NM_001330437.2:c.1020C>T, NM_001330437.1:c.1020C>T, NM_001374625.1:c.1017C>T, XM_011538613.3:c.1017C>T, XM_011538613.2:c.1017C>T, XM_011538613.1:c.1017C>T

Select item 144445589315.

rs1444455893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:112482120 (GRCh38)
12:112919924 (GRCh37)
Canonical SPDI:: NC_000012.12:112482119:A:G
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.112482120A>G, NC_000012.11:g.112919924A>G, NG_007459.1:g.68389A>G, NM_002834.5:c.1139A>G, NM_002834.4:c.1139A>G, NM_002834.3:c.1139A>G, NM_080601.3:c.1139A>G, NM_080601.2:c.1139A>G, NM_080601.1:c.1139A>G, NM_001330437.2:c.1139A>G, NM_001330437.1:c.1139A>G, NM_001374625.1:c.1136A>G, XM_011538613.3:c.1136A>G, XM_011538613.2:c.1136A>G, XM_011538613.1:c.1136A>G, NP_002825.3:p.Tyr380Cys, NP_542168.1:p.Tyr380Cys, NP_001317366.1:p.Tyr380Cys, NP_001361554.1:p.Tyr379Cys, XP_011536915.1:p.Tyr379Cys

Select item 144338570416.

rs1443385704 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGT>- [Show Flanks]
Chromosome:: 12:112453262 (GRCh38)
12:112891066 (GRCh37)
Canonical SPDI:: NC_000012.12:112453259:GTAGT:GT
Gene:: PTPN11 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112453262_112453264del, NC_000012.11:g.112891066_112891068del, NG_007459.1:g.39531_39533del, NM_002834.5:c.400_402del, NM_002834.4:c.400_402del, NM_002834.3:c.400_402del, NM_080601.3:c.400_402del, NM_080601.2:c.400_402del, NM_080601.1:c.400_402del, NM_001330437.2:c.400_402del, NM_001330437.1:c.400_402del, NM_001374625.1:c.397_399del, XM_011538613.3:c.397_399del, XM_011538613.2:c.397_399del, XM_011538613.1:c.397_399del, NP_002825.3:p.Ser134del, NP_542168.1:p.Ser134del, NP_001317366.1:p.Ser134del, NP_001361554.1:p.Ser133del, XP_011536915.1:p.Ser133del

Select item 144330625117.

rs1443306251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:112472997 (GRCh38)
12:112910801 (GRCh37)
Canonical SPDI:: NC_000012.12:112472996:G:A
Gene:: PTPN11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112472997G>A, NC_000012.11:g.112910801G>A, NG_007459.1:g.59266G>A, NM_002834.5:c.810G>A, NM_002834.4:c.810G>A, NM_002834.3:c.810G>A, NM_080601.3:c.810G>A, NM_080601.2:c.810G>A, NM_080601.1:c.810G>A, NM_001330437.2:c.810G>A, NM_001330437.1:c.810G>A, NM_001374625.1:c.807G>A, XM_011538613.3:c.807G>A, XM_011538613.2:c.807G>A, XM_011538613.1:c.807G>A

Select item 143651333518.

rs1436513335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:112454601 (GRCh38)
12:112892405 (GRCh37)
Canonical SPDI:: NC_000012.12:112454600:A:G,NC_000012.12:112454600:A:T
Gene:: PTPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.112454601A>G, NC_000012.12:g.112454601A>T, NC_000012.11:g.112892405A>G, NC_000012.11:g.112892405A>T, NG_007459.1:g.40870A>G, NG_007459.1:g.40870A>T, NM_002834.5:c.563A>G, NM_002834.5:c.563A>T, NM_002834.4:c.563A>G, NM_002834.4:c.563A>T, NM_002834.3:c.563A>G, NM_002834.3:c.563A>T, NM_080601.3:c.563A>G, NM_080601.3:c.563A>T, NM_080601.2:c.563A>G, NM_080601.2:c.563A>T, NM_080601.1:c.563A>G, NM_080601.1:c.563A>T, NM_001330437.2:c.563A>G, NM_001330437.2:c.563A>T, NM_001330437.1:c.563A>G, NM_001330437.1:c.563A>T, NM_001374625.1:c.560A>G, NM_001374625.1:c.560A>T, XM_011538613.3:c.560A>G, XM_011538613.3:c.560A>T, XM_011538613.2:c.560A>G, XM_011538613.2:c.560A>T, XM_011538613.1:c.560A>G, XM_011538613.1:c.560A>T, NP_002825.3:p.Asp188Gly, NP_002825.3:p.Asp188Val, NP_542168.1:p.Asp188Gly, NP_542168.1:p.Asp188Val, NP_001317366.1:p.Asp188Gly, NP_001317366.1:p.Asp188Val, NP_001361554.1:p.Asp187Gly, NP_001361554.1:p.Asp187Val, XP_011536915.1:p.Asp187Gly, XP_011536915.1:p.Asp187Val

Select item 142949214719.

rs1429492147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:112450402 (GRCh38)
12:112888206 (GRCh37)
Canonical SPDI:: NC_000012.12:112450401:G:A,NC_000012.12:112450401:G:C,NC_000012.12:112450401:G:T
Gene:: PTPN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112450402G>A, NC_000012.12:g.112450402G>C, NC_000012.12:g.112450402G>T, NC_000012.11:g.112888206G>A, NC_000012.11:g.112888206G>C, NC_000012.11:g.112888206G>T, NG_007459.1:g.36671G>A, NG_007459.1:g.36671G>C, NG_007459.1:g.36671G>T, NM_002834.5:c.222G>A, NM_002834.5:c.222G>C, NM_002834.5:c.222G>T, NM_002834.4:c.222G>A, NM_002834.4:c.222G>C, NM_002834.4:c.222G>T, NM_002834.3:c.222G>A, NM_002834.3:c.222G>C, NM_002834.3:c.222G>T, NM_080601.3:c.222G>A, NM_080601.3:c.222G>C, NM_080601.3:c.222G>T, NM_080601.2:c.222G>A, NM_080601.2:c.222G>C, NM_080601.2:c.222G>T, NM_080601.1:c.222G>A, NM_080601.1:c.222G>C, NM_080601.1:c.222G>T, NM_001330437.2:c.222G>A, NM_001330437.2:c.222G>C, NM_001330437.2:c.222G>T, NM_001330437.1:c.222G>A, NM_001330437.1:c.222G>C, NM_001330437.1:c.222G>T, NM_001374625.1:c.219G>A, NM_001374625.1:c.219G>C, NM_001374625.1:c.219G>T, XM_011538613.3:c.219G>A, XM_011538613.3:c.219G>C, XM_011538613.3:c.219G>T, XM_011538613.2:c.219G>A, XM_011538613.2:c.219G>C, XM_011538613.2:c.219G>T, XM_011538613.1:c.219G>A, XM_011538613.1:c.219G>C, XM_011538613.1:c.219G>T, NP_002825.3:p.Leu74Phe, NP_002825.3:p.Leu74Phe, NP_542168.1:p.Leu74Phe, NP_542168.1:p.Leu74Phe, NP_001317366.1:p.Leu74Phe, NP_001317366.1:p.Leu74Phe, NP_001361554.1:p.Leu73Phe, NP_001361554.1:p.Leu73Phe, XP_011536915.1:p.Leu73Phe, XP_011536915.1:p.Leu73Phe

Select item 142389054320.

rs1423890543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:112454671 (GRCh38)
12:112892475 (GRCh37)
Canonical SPDI:: NC_000012.12:112454670:A:G
Gene:: PTPN11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.112454671A>G, NC_000012.11:g.112892475A>G, NG_007459.1:g.40940A>G, NM_002834.5:c.633A>G, NM_002834.4:c.633A>G, NM_002834.3:c.633A>G, NM_080601.3:c.633A>G, NM_080601.2:c.633A>G, NM_080601.1:c.633A>G, NM_001330437.2:c.633A>G, NM_001330437.1:c.633A>G, NM_001374625.1:c.630A>G, XM_011538613.3:c.630A>G, XM_011538613.2:c.630A>G, XM_011538613.1:c.630A>G

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