SNP Links for Protein (Select 324710992) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 283

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Select item 14901273581.

rs1490127358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110618173 (GRCh38)
4:111539329 (GRCh37)
Canonical SPDI:: NC_000004.12:110618172:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.110618173C>T, NC_000004.11:g.111539329C>T, NG_007120.1:g.24180G>A, NM_000325.6:c.927G>A, NM_000325.5:c.927G>A, NM_153426.3:c.906G>A, NM_153426.2:c.906G>A, NM_153427.3:c.768G>A, NM_153427.2:c.768G>A, NM_001204397.2:c.906G>A, NM_001204397.1:c.906G>A, NM_001204398.1:c.906G>A, NM_001204399.1:c.768G>A, XM_024454090.2:c.573G>A, XM_024454090.1:c.573G>A

Select item 14893507012.

rs1489350701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110618333 (GRCh38)
4:111539489 (GRCh37)
Canonical SPDI:: NC_000004.12:110618332:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.110618333C>T, NC_000004.11:g.111539489C>T, NG_007120.1:g.24020G>A, NM_000325.6:c.767G>A, NM_000325.5:c.767G>A, NM_153426.3:c.746G>A, NM_153426.2:c.746G>A, NM_153427.3:c.608G>A, NM_153427.2:c.608G>A, NM_001204397.2:c.746G>A, NM_001204397.1:c.746G>A, NM_001204398.1:c.746G>A, NM_001204399.1:c.608G>A, XM_024454090.2:c.413G>A, XM_024454090.1:c.413G>A, NP_000316.2:p.Ser256Asn, NP_700475.1:p.Ser249Asn, NP_700476.1:p.Ser203Asn, NP_001191326.1:p.Ser249Asn, NP_001191327.1:p.Ser249Asn, NP_001191328.1:p.Ser203Asn, XP_024309858.1:p.Ser138Asn

Select item 14884876703.

rs1488487670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:110618421 (GRCh38)
4:111539577 (GRCh37)
Canonical SPDI:: NC_000004.12:110618420:T:G
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110618421T>G, NC_000004.11:g.111539577T>G, NG_007120.1:g.23932A>C, NM_000325.6:c.679A>C, NM_000325.5:c.679A>C, NM_153426.3:c.658A>C, NM_153426.2:c.658A>C, NM_153427.3:c.520A>C, NM_153427.2:c.520A>C, NM_001204397.2:c.658A>C, NM_001204397.1:c.658A>C, NM_001204398.1:c.658A>C, NM_001204399.1:c.520A>C, XM_024454090.2:c.325A>C, XM_024454090.1:c.325A>C, NP_000316.2:p.Met227Leu, NP_700475.1:p.Met220Leu, NP_700476.1:p.Met174Leu, NP_001191326.1:p.Met220Leu, NP_001191327.1:p.Met220Leu, NP_001191328.1:p.Met174Leu, XP_024309858.1:p.Met109Leu

Select item 14876859184.

rs1487685918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:110618502 (GRCh38)
4:111539658 (GRCh37)
Canonical SPDI:: NC_000004.12:110618501:T:A
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.110618502T>A, NC_000004.11:g.111539658T>A, NG_007120.1:g.23851A>T, NM_000325.6:c.598A>T, NM_000325.5:c.598A>T, NM_153426.3:c.577A>T, NM_153426.2:c.577A>T, NM_153427.3:c.439A>T, NM_153427.2:c.439A>T, NM_001204397.2:c.577A>T, NM_001204397.1:c.577A>T, NM_001204398.1:c.577A>T, NM_001204399.1:c.439A>T, XM_024454090.2:c.244A>T, XM_024454090.1:c.244A>T, NP_000316.2:p.Ser200Cys, NP_700475.1:p.Ser193Cys, NP_700476.1:p.Ser147Cys, NP_001191326.1:p.Ser193Cys, NP_001191327.1:p.Ser193Cys, NP_001191328.1:p.Ser147Cys, XP_024309858.1:p.Ser82Cys

Select item 14871995265.

rs1487199526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:110618616 (GRCh38)
4:111539772 (GRCh37)
Canonical SPDI:: NC_000004.12:110618615:C:G
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.110618616C>G, NC_000004.11:g.111539772C>G, NG_007120.1:g.23737G>C, NM_000325.6:c.484G>C, NM_000325.5:c.484G>C, NM_153426.3:c.463G>C, NM_153426.2:c.463G>C, NM_153427.3:c.325G>C, NM_153427.2:c.325G>C, NM_001204397.2:c.463G>C, NM_001204397.1:c.463G>C, NM_001204398.1:c.463G>C, NM_001204399.1:c.325G>C, XM_024454090.2:c.130G>C, XM_024454090.1:c.130G>C, NP_000316.2:p.Gly162Arg, NP_700475.1:p.Gly155Arg, NP_700476.1:p.Gly109Arg, NP_001191326.1:p.Gly155Arg, NP_001191327.1:p.Gly155Arg, NP_001191328.1:p.Gly109Arg, XP_024309858.1:p.Gly44Arg

Select item 14802557316.

rs1480255731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110618347 (GRCh38)
4:111539503 (GRCh37)
Canonical SPDI:: NC_000004.12:110618346:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110618347G>A, NC_000004.11:g.111539503G>A, NG_007120.1:g.24006C>T, NM_000325.6:c.753C>T, NM_000325.5:c.753C>T, NM_153426.3:c.732C>T, NM_153426.2:c.732C>T, NM_153427.3:c.594C>T, NM_153427.2:c.594C>T, NM_001204397.2:c.732C>T, NM_001204397.1:c.732C>T, NM_001204398.1:c.732C>T, NM_001204399.1:c.594C>T, XM_024454090.2:c.399C>T, XM_024454090.1:c.399C>T

Select item 14777552577.

rs1477755257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110618188 (GRCh38)
4:111539344 (GRCh37)
Canonical SPDI:: NC_000004.12:110618187:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.110618188G>A, NC_000004.11:g.111539344G>A, NG_007120.1:g.24165C>T, NM_000325.6:c.912C>T, NM_000325.5:c.912C>T, NM_153426.3:c.891C>T, NM_153426.2:c.891C>T, NM_153427.3:c.753C>T, NM_153427.2:c.753C>T, NM_001204397.2:c.891C>T, NM_001204397.1:c.891C>T, NM_001204398.1:c.891C>T, NM_001204399.1:c.753C>T, XM_024454090.2:c.558C>T, XM_024454090.1:c.558C>T

Select item 14759291308.

rs1475929130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110618496 (GRCh38)
4:111539652 (GRCh37)
Canonical SPDI:: NC_000004.12:110618495:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.110618496G>A, NC_000004.11:g.111539652G>A, NG_007120.1:g.23857C>T, NM_000325.6:c.604C>T, NM_000325.5:c.604C>T, NM_153426.3:c.583C>T, NM_153426.2:c.583C>T, NM_153427.3:c.445C>T, NM_153427.2:c.445C>T, NM_001204397.2:c.583C>T, NM_001204397.1:c.583C>T, NM_001204398.1:c.583C>T, NM_001204399.1:c.445C>T, XM_024454090.2:c.250C>T, XM_024454090.1:c.250C>T, NP_000316.2:p.Pro202Ser, NP_700475.1:p.Pro195Ser, NP_700476.1:p.Pro149Ser, NP_001191326.1:p.Pro195Ser, NP_001191327.1:p.Pro195Ser, NP_001191328.1:p.Pro149Ser, XP_024309858.1:p.Pro84Ser

Select item 14755258969.

rs1475525896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:110632974 (GRCh38)
4:111554130 (GRCh37)
Canonical SPDI:: NC_000004.12:110632973:C:G
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.110632974C>G, NC_000004.11:g.111554130C>G, NG_007120.1:g.9379G>C, NM_153426.3:c.25G>C, NM_153426.2:c.25G>C, NM_153427.3:c.25G>C, NM_153427.2:c.25G>C, NM_001204397.2:c.25G>C, NM_001204397.1:c.25G>C, NM_001204398.1:c.25G>C, NM_001204399.1:c.25G>C, NP_700475.1:p.Val9Leu, NP_700476.1:p.Val9Leu, NP_001191326.1:p.Val9Leu, NP_001191327.1:p.Val9Leu, NP_001191328.1:p.Val9Leu

Select item 146780132010.

rs1467801320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:110618626 (GRCh38)
4:111539782 (GRCh37)
Canonical SPDI:: NC_000004.12:110618625:T:C
Gene:: PITX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.110618626T>C, NC_000004.11:g.111539782T>C, NG_007120.1:g.23727A>G, NM_000325.6:c.474A>G, NM_000325.5:c.474A>G, NM_153426.3:c.453A>G, NM_153426.2:c.453A>G, NM_153427.3:c.315A>G, NM_153427.2:c.315A>G, NM_001204397.2:c.453A>G, NM_001204397.1:c.453A>G, NM_001204398.1:c.453A>G, NM_001204399.1:c.315A>G, XM_024454090.2:c.120A>G, XM_024454090.1:c.120A>G

Select item 146771908211.

rs1467719082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110621329 (GRCh38)
4:111542485 (GRCh37)
Canonical SPDI:: NC_000004.12:110621328:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110621329G>A, NC_000004.11:g.111542485G>A, NG_007120.1:g.21024C>T, NM_000325.6:c.246C>T, NM_000325.5:c.246C>T, NM_153426.3:c.225C>T, NM_153426.2:c.225C>T, NM_153427.3:c.87C>T, NM_153427.2:c.87C>T, NM_001204397.2:c.225C>T, NM_001204397.1:c.225C>T, NM_001204398.1:c.225C>T, NM_001204399.1:c.87C>T, XM_024454090.2:c.-109C>T, XM_024454090.1:c.-109C>T

Select item 146678576012.

rs1466785760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:110618189 (GRCh38)
4:111539345 (GRCh37)
Canonical SPDI:: NC_000004.12:110618188:G:C
Gene:: PITX2 (Varview)
Functional Consequence:: missense_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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.110618189G>C, NC_000004.11:g.111539345G>C, NG_007120.1:g.24164C>G, NM_000325.6:c.911C>G, NM_000325.5:c.911C>G, NM_153426.3:c.890C>G, NM_153426.2:c.890C>G, NM_153427.3:c.752C>G, NM_153427.2:c.752C>G, NM_001204397.2:c.890C>G, NM_001204397.1:c.890C>G, NM_001204398.1:c.890C>G, NM_001204399.1:c.752C>G, XM_024454090.2:c.557C>G, XM_024454090.1:c.557C>G, NP_000316.2:p.Ala304Gly, NP_700475.1:p.Ala297Gly, NP_700476.1:p.Ala251Gly, NP_001191326.1:p.Ala297Gly, NP_001191327.1:p.Ala297Gly, NP_001191328.1:p.Ala251Gly, XP_024309858.1:p.Ala186Gly

Select item 146355838713.

rs1463558387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:110621238 (GRCh38)
4:111542394 (GRCh37)
Canonical SPDI:: NC_000004.12:110621237:T:G
Gene:: PITX2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.110621238T>G, NC_000004.11:g.111542394T>G, NG_007120.1:g.21115A>C, NM_000325.6:c.337A>C, NM_000325.5:c.337A>C, NM_153426.3:c.316A>C, NM_153426.2:c.316A>C, NM_153427.3:c.178A>C, NM_153427.2:c.178A>C, NM_001204397.2:c.316A>C, NM_001204397.1:c.316A>C, NM_001204398.1:c.316A>C, NM_001204399.1:c.178A>C, XM_024454090.2:c.-18A>C, XM_024454090.1:c.-18A>C

Select item 146272474914.

rs1462724749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110618595 (GRCh38)
4:111539751 (GRCh37)
Canonical SPDI:: NC_000004.12:110618594:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110618595C>T, NC_000004.11:g.111539751C>T, NG_007120.1:g.23758G>A, NM_000325.6:c.505G>A, NM_000325.5:c.505G>A, NM_153426.3:c.484G>A, NM_153426.2:c.484G>A, NM_153427.3:c.346G>A, NM_153427.2:c.346G>A, NM_001204397.2:c.484G>A, NM_001204397.1:c.484G>A, NM_001204398.1:c.484G>A, NM_001204399.1:c.346G>A, XM_024454090.2:c.151G>A, XM_024454090.1:c.151G>A, NP_000316.2:p.Gly169Arg, NP_700475.1:p.Gly162Arg, NP_700476.1:p.Gly116Arg, NP_001191326.1:p.Gly162Arg, NP_001191327.1:p.Gly162Arg, NP_001191328.1:p.Gly116Arg, XP_024309858.1:p.Gly51Arg

Select item 146012663315.

rs1460126633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:110621196 (GRCh38)
4:111542352 (GRCh37)
Canonical SPDI:: NC_000004.12:110621195:C:G,NC_000004.12:110621195:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.110621196C>G, NC_000004.12:g.110621196C>T, NC_000004.11:g.111542352C>G, NC_000004.11:g.111542352C>T, NG_007120.1:g.21157G>C, NG_007120.1:g.21157G>A, NM_000325.6:c.379G>C, NM_000325.6:c.379G>A, NM_000325.5:c.379G>C, NM_000325.5:c.379G>A, NM_153426.3:c.358G>C, NM_153426.3:c.358G>A, NM_153426.2:c.358G>C, NM_153426.2:c.358G>A, NM_153427.3:c.220G>C, NM_153427.3:c.220G>A, NM_153427.2:c.220G>C, NM_153427.2:c.220G>A, NM_001204397.2:c.358G>C, NM_001204397.2:c.358G>A, NM_001204397.1:c.358G>C, NM_001204397.1:c.358G>A, NM_001204398.1:c.358G>C, NM_001204398.1:c.358G>A, NM_001204399.1:c.220G>C, NM_001204399.1:c.220G>A, XM_024454090.2:c.25G>C, XM_024454090.2:c.25G>A, XM_024454090.1:c.25G>C, XM_024454090.1:c.25G>A, NP_000316.2:p.Val127Leu, NP_000316.2:p.Val127Met, NP_700475.1:p.Val120Leu, NP_700475.1:p.Val120Met, NP_700476.1:p.Val74Leu, NP_700476.1:p.Val74Met, NP_001191326.1:p.Val120Leu, NP_001191326.1:p.Val120Met, NP_001191327.1:p.Val120Leu, NP_001191327.1:p.Val120Met, NP_001191328.1:p.Val74Leu, NP_001191328.1:p.Val74Met, XP_024309858.1:p.Val9Leu, XP_024309858.1:p.Val9Met

Select item 145440790416.

rs1454407904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:110618306 (GRCh38)
4:111539462 (GRCh37)
Canonical SPDI:: NC_000004.12:110618305:G:C
Gene:: PITX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.110618306G>C, NC_000004.11:g.111539462G>C, NG_007120.1:g.24047C>G, NM_000325.6:c.794C>G, NM_000325.5:c.794C>G, NM_153426.3:c.773C>G, NM_153426.2:c.773C>G, NM_153427.3:c.635C>G, NM_153427.2:c.635C>G, NM_001204397.2:c.773C>G, NM_001204397.1:c.773C>G, NM_001204398.1:c.773C>G, NM_001204399.1:c.635C>G, XM_024454090.2:c.440C>G, XM_024454090.1:c.440C>G, NP_000316.2:p.Pro265Arg, NP_700475.1:p.Pro258Arg, NP_700476.1:p.Pro212Arg, NP_001191326.1:p.Pro258Arg, NP_001191327.1:p.Pro258Arg, NP_001191328.1:p.Pro212Arg, XP_024309858.1:p.Pro147Arg

Select item 145192423817.

rs1451924238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:110618197 (GRCh38)
4:111539353 (GRCh37)
Canonical SPDI:: NC_000004.12:110618196:G:A,NC_000004.12:110618196:G:T
Gene:: PITX2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110618197G>A, NC_000004.12:g.110618197G>T, NC_000004.11:g.111539353G>A, NC_000004.11:g.111539353G>T, NG_007120.1:g.24156C>T, NG_007120.1:g.24156C>A, NM_000325.6:c.903C>T, NM_000325.6:c.903C>A, NM_000325.5:c.903C>T, NM_000325.5:c.903C>A, NM_153426.3:c.882C>T, NM_153426.3:c.882C>A, NM_153426.2:c.882C>T, NM_153426.2:c.882C>A, NM_153427.3:c.744C>T, NM_153427.3:c.744C>A, NM_153427.2:c.744C>T, NM_153427.2:c.744C>A, NM_001204397.2:c.882C>T, NM_001204397.2:c.882C>A, NM_001204397.1:c.882C>T, NM_001204397.1:c.882C>A, NM_001204398.1:c.882C>T, NM_001204398.1:c.882C>A, NM_001204399.1:c.744C>T, NM_001204399.1:c.744C>A, XM_024454090.2:c.549C>T, XM_024454090.2:c.549C>A, XM_024454090.1:c.549C>T, XM_024454090.1:c.549C>A, NP_000316.2:p.Phe301Leu, NP_700475.1:p.Phe294Leu, NP_700476.1:p.Phe248Leu, NP_001191326.1:p.Phe294Leu, NP_001191327.1:p.Phe294Leu, NP_001191328.1:p.Phe248Leu, XP_024309858.1:p.Phe183Leu

Select item 145044103118.

rs1450441031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110621178 (GRCh38)
4:111542334 (GRCh37)
Canonical SPDI:: NC_000004.12:110621177:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110621178C>T, NC_000004.11:g.111542334C>T, NG_007120.1:g.21175G>A, NM_000325.6:c.397G>A, NM_000325.5:c.397G>A, NM_153426.3:c.376G>A, NM_153426.2:c.376G>A, NM_153427.3:c.238G>A, NM_153427.2:c.238G>A, NM_001204397.2:c.376G>A, NM_001204397.1:c.376G>A, NM_001204398.1:c.376G>A, NM_001204399.1:c.238G>A, XM_024454090.2:c.43G>A, XM_024454090.1:c.43G>A, NP_000316.2:p.Glu133Lys, NP_700475.1:p.Glu126Lys, NP_700476.1:p.Glu80Lys, NP_001191326.1:p.Glu126Lys, NP_001191327.1:p.Glu126Lys, NP_001191328.1:p.Glu80Lys, XP_024309858.1:p.Glu15Lys

Select item 144548296419.

rs1445482964 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:110632391 (GRCh38)
4:111553547 (GRCh37)
Canonical SPDI:: NC_000004.12:110632388:CTCT:CT
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.110632389CT[1], NC_000004.11:g.111553545CT[1], NG_007120.1:g.9961AG[1], NM_153426.3:c.137_138del, NM_153426.2:c.137_138del, NM_001204397.2:c.137_138del, NM_001204397.1:c.137_138del, NM_001204398.1:c.137_138del, NP_700475.1:p.Glu46fs, NP_001191326.1:p.Glu46fs, NP_001191327.1:p.Glu46fs

Select item 144452402520.

rs1444524025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110632422 (GRCh38)
4:111553578 (GRCh37)
Canonical SPDI:: NC_000004.12:110632421:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.110632422G>A, NC_000004.11:g.111553578G>A, NG_007120.1:g.9931C>T, NM_153426.3:c.105C>T, NM_153426.2:c.105C>T, NM_001204397.2:c.105C>T, NM_001204397.1:c.105C>T, NM_001204398.1:c.105C>T

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