SNP Links for Protein (Select 1042779501) - SNP

Links from Protein

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Select item 14905558241.

rs1490555824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:187467042 (GRCh38)
2:188331769 (GRCh37)
Canonical SPDI:: NC_000002.12:187467041:C:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187467042C>A, NC_000002.11:g.188331769C>A, NG_029714.2:g.103719G>T, NM_006287.6:c.809G>T, NM_006287.5:c.809G>T, NM_006287.4:c.809G>T, NM_001329239.2:c.809G>T, NM_001329239.1:c.809G>T, NM_001329241.2:c.809G>T, NM_001329241.1:c.809G>T, NM_001329240.2:c.809G>T, NM_001329240.1:c.809G>T, XM_047445617.1:c.809G>T, XM_047445618.1:c.809G>T, XM_047445621.1:c.809G>T, XM_047445619.1:c.809G>T, XM_047445620.1:c.809G>T, XM_047445622.1:c.809G>T, NP_006278.1:p.Gly270Val, NP_001316168.1:p.Gly270Val, NP_001316170.1:p.Gly270Val, NP_001316169.1:p.Gly270Val, XP_047301573.1:p.Gly270Val, XP_047301574.1:p.Gly270Val, XP_047301577.1:p.Gly270Val, XP_047301575.1:p.Gly270Val, XP_047301576.1:p.Gly270Val, XP_047301578.1:p.Gly270Val

Select item 14823387222.

rs1482338722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:187484201 (GRCh38)
2:188348928 (GRCh37)
Canonical SPDI:: NC_000002.12:187484200:A:G,NC_000002.12:187484200:A:T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.187484201A>G, NC_000002.12:g.187484201A>T, NC_000002.11:g.188348928A>G, NC_000002.11:g.188348928A>T, NG_029714.2:g.86560T>C, NG_029714.2:g.86560T>A, NM_006287.6:c.551T>C, NM_006287.6:c.551T>A, NM_006287.5:c.551T>C, NM_006287.5:c.551T>A, NM_006287.4:c.551T>C, NM_006287.4:c.551T>A, NM_001032281.4:c.551T>C, NM_001032281.4:c.551T>A, NM_001032281.3:c.551T>C, NM_001032281.3:c.551T>A, NM_001032281.2:c.551T>C, NM_001032281.2:c.551T>A, NM_001318941.3:c.551T>C, NM_001318941.3:c.551T>A, NM_001318941.2:c.551T>C, NM_001318941.2:c.551T>A, NM_001318941.1:c.551T>C, NM_001318941.1:c.551T>A, NM_001329239.2:c.551T>C, NM_001329239.2:c.551T>A, NM_001329239.1:c.551T>C, NM_001329239.1:c.551T>A, NM_001329241.2:c.551T>C, NM_001329241.2:c.551T>A, NM_001329241.1:c.551T>C, NM_001329241.1:c.551T>A, NM_001329240.2:c.551T>C, NM_001329240.2:c.551T>A, NM_001329240.1:c.551T>C, NM_001329240.1:c.551T>A, XM_047445617.1:c.551T>C, XM_047445617.1:c.551T>A, XM_047445618.1:c.551T>C, XM_047445618.1:c.551T>A, XM_047445621.1:c.551T>C, XM_047445621.1:c.551T>A, XM_047445619.1:c.551T>C, XM_047445619.1:c.551T>A, XM_047445620.1:c.551T>C, XM_047445620.1:c.551T>A, XM_047445622.1:c.551T>C, XM_047445622.1:c.551T>A, XM_047445623.1:c.551T>C, XM_047445623.1:c.551T>A, NP_006278.1:p.Val184Ala, NP_006278.1:p.Val184Glu, NP_001027452.1:p.Val184Ala, NP_001027452.1:p.Val184Glu, NP_001305870.1:p.Val184Ala, NP_001305870.1:p.Val184Glu, NP_001316168.1:p.Val184Ala, NP_001316168.1:p.Val184Glu, NP_001316170.1:p.Val184Ala, NP_001316170.1:p.Val184Glu, NP_001316169.1:p.Val184Ala, NP_001316169.1:p.Val184Glu, XP_047301573.1:p.Val184Ala, XP_047301573.1:p.Val184Glu, XP_047301574.1:p.Val184Ala, XP_047301574.1:p.Val184Glu, XP_047301577.1:p.Val184Ala, XP_047301577.1:p.Val184Glu, XP_047301575.1:p.Val184Ala, XP_047301575.1:p.Val184Glu, XP_047301576.1:p.Val184Ala, XP_047301576.1:p.Val184Glu, XP_047301578.1:p.Val184Ala, XP_047301578.1:p.Val184Glu, XP_047301579.1:p.Val184Ala, XP_047301579.1:p.Val184Glu

Select item 14727111173.

rs1472711117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:187496993 (GRCh38)
2:188361720 (GRCh37)
Canonical SPDI:: NC_000002.12:187496992:T:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.187496993T>C, NC_000002.11:g.188361720T>C, NG_029714.2:g.73768A>G, NM_006287.6:c.207A>G, NM_006287.5:c.207A>G, NM_006287.4:c.207A>G, NM_001032281.4:c.207A>G, NM_001032281.3:c.207A>G, NM_001032281.2:c.207A>G, NM_001318941.3:c.207A>G, NM_001318941.2:c.207A>G, NM_001318941.1:c.207A>G, NM_001329239.2:c.207A>G, NM_001329239.1:c.207A>G, NM_001329241.2:c.207A>G, NM_001329241.1:c.207A>G, NM_001329240.2:c.207A>G, NM_001329240.1:c.207A>G, XM_047445617.1:c.207A>G, XM_047445618.1:c.207A>G, XM_047445621.1:c.207A>G, XM_047445619.1:c.207A>G, XM_047445620.1:c.207A>G, XM_047445622.1:c.207A>G, XM_047445623.1:c.207A>G

Select item 14718841594.

rs1471884159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:187488353 (GRCh38)
2:188353080 (GRCh37)
Canonical SPDI:: NC_000002.12:187488352:C:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.187488353C>A, NC_000002.11:g.188353080C>A, NG_029714.2:g.82408G>T, NM_006287.6:c.342G>T, NM_006287.5:c.342G>T, NM_006287.4:c.342G>T, NM_001032281.4:c.342G>T, NM_001032281.3:c.342G>T, NM_001032281.2:c.342G>T, NM_001318941.3:c.342G>T, NM_001318941.2:c.342G>T, NM_001318941.1:c.342G>T, NM_001329239.2:c.342G>T, NM_001329239.1:c.342G>T, NM_001329241.2:c.342G>T, NM_001329241.1:c.342G>T, NM_001329240.2:c.342G>T, NM_001329240.1:c.342G>T, XM_047445617.1:c.342G>T, XM_047445618.1:c.342G>T, XM_047445621.1:c.342G>T, XM_047445619.1:c.342G>T, XM_047445620.1:c.342G>T, XM_047445622.1:c.342G>T, XM_047445623.1:c.342G>T, NP_006278.1:p.Lys114Asn, NP_001027452.1:p.Lys114Asn, NP_001305870.1:p.Lys114Asn, NP_001316168.1:p.Lys114Asn, NP_001316170.1:p.Lys114Asn, NP_001316169.1:p.Lys114Asn, XP_047301573.1:p.Lys114Asn, XP_047301574.1:p.Lys114Asn, XP_047301577.1:p.Lys114Asn, XP_047301575.1:p.Lys114Asn, XP_047301576.1:p.Lys114Asn, XP_047301578.1:p.Lys114Asn, XP_047301579.1:p.Lys114Asn

Select item 14702625135.

rs1470262513 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 2:187484170 (GRCh38)
2:188348898 (GRCh37)
Canonical SPDI:: NC_000002.12:187484170:ACA:ACAACA
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_insertion,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: ACA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187484171_187484173dup, NC_000002.11:g.188348898_188348900dup, NG_029714.2:g.86588_86590dup, NM_006287.6:c.579_581dup, NM_006287.5:c.579_581dup, NM_006287.4:c.579_581dup, NM_001032281.4:c.579_581dup, NM_001032281.3:c.579_581dup, NM_001032281.2:c.579_581dup, NM_001318941.3:c.579_581dup, NM_001318941.2:c.579_581dup, NM_001318941.1:c.579_581dup, NM_001329239.2:c.579_581dup, NM_001329239.1:c.579_581dup, NM_001329241.2:c.579_581dup, NM_001329241.1:c.579_581dup, NM_001329240.2:c.579_581dup, NM_001329240.1:c.579_581dup, XM_047445617.1:c.579_581dup, XM_047445618.1:c.579_581dup, XM_047445621.1:c.579_581dup, XM_047445619.1:c.579_581dup, XM_047445620.1:c.579_581dup, XM_047445622.1:c.579_581dup, XM_047445623.1:c.579_581dup, NP_006278.1:p.Val194dup, NP_001027452.1:p.Val194dup, NP_001305870.1:p.Val194dup, NP_001316168.1:p.Val194dup, NP_001316170.1:p.Val194dup, NP_001316169.1:p.Val194dup, XP_047301573.1:p.Val194dup, XP_047301574.1:p.Val194dup, XP_047301577.1:p.Val194dup, XP_047301575.1:p.Val194dup, XP_047301576.1:p.Val194dup, XP_047301578.1:p.Val194dup, XP_047301579.1:p.Val194dup

Select item 14657572206.

rs1465757220 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTGTTTTAAT [Show Flanks]
Chromosome:: 2:187497002 (GRCh38)
2:188361730 (GRCh37)
Canonical SPDI:: NC_000002.12:187497002::CTGTTTTAAT
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant,intron_variant
HGVS:: NC_000002.12:g.187497002_187497003insCTGTTTTAAT, NC_000002.11:g.188361729_188361730insCTGTTTTAAT, NG_029714.2:g.73758_73759insATTAAAACAG, NM_006287.6:c.197_198insATTAAAACAG, NM_006287.5:c.197_198insATTAAAACAG, NM_006287.4:c.197_198insATTAAAACAG, NM_001032281.4:c.197_198insATTAAAACAG, NM_001032281.3:c.197_198insATTAAAACAG, NM_001032281.2:c.197_198insATTAAAACAG, NM_001318941.3:c.197_198insATTAAAACAG, NM_001318941.2:c.197_198insATTAAAACAG, NM_001318941.1:c.197_198insATTAAAACAG, NM_001329239.2:c.197_198insATTAAAACAG, NM_001329239.1:c.197_198insATTAAAACAG, NM_001329241.2:c.197_198insATTAAAACAG, NM_001329241.1:c.197_198insATTAAAACAG, NM_001329240.2:c.197_198insATTAAAACAG, NM_001329240.1:c.197_198insATTAAAACAG, XM_047445617.1:c.197_198insATTAAAACAG, XM_047445618.1:c.197_198insATTAAAACAG, XM_047445621.1:c.197_198insATTAAAACAG, XM_047445619.1:c.197_198insATTAAAACAG, XM_047445620.1:c.197_198insATTAAAACAG, XM_047445622.1:c.197_198insATTAAAACAG, XM_047445623.1:c.197_198insATTAAAACAG, NP_006278.1:p.Met67fs, NP_001027452.1:p.Met67fs, NP_001305870.1:p.Met67fs, NP_001316168.1:p.Met67fs, NP_001316170.1:p.Met67fs, NP_001316169.1:p.Met67fs, XP_047301573.1:p.Met67fs, XP_047301574.1:p.Met67fs, XP_047301577.1:p.Met67fs, XP_047301575.1:p.Met67fs, XP_047301576.1:p.Met67fs, XP_047301578.1:p.Met67fs, XP_047301579.1:p.Met67fs

Select item 14648505437.

rs1464850543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:187484126 (GRCh38)
2:188348853 (GRCh37)
Canonical SPDI:: NC_000002.12:187484125:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187484126A>G, NC_000002.11:g.188348853A>G, NG_029714.2:g.86635T>C, NM_006287.6:c.626T>C, NM_006287.5:c.626T>C, NM_006287.4:c.626T>C, NM_001032281.4:c.626T>C, NM_001032281.3:c.626T>C, NM_001032281.2:c.626T>C, NM_001318941.3:c.626T>C, NM_001318941.2:c.626T>C, NM_001318941.1:c.626T>C, NM_001329239.2:c.626T>C, NM_001329239.1:c.626T>C, NM_001329241.2:c.626T>C, NM_001329241.1:c.626T>C, NM_001329240.2:c.626T>C, NM_001329240.1:c.626T>C, XM_047445617.1:c.626T>C, XM_047445618.1:c.626T>C, XM_047445621.1:c.626T>C, XM_047445619.1:c.626T>C, XM_047445620.1:c.626T>C, XM_047445622.1:c.626T>C, XM_047445623.1:c.626T>C, NP_006278.1:p.Phe209Ser, NP_001027452.1:p.Phe209Ser, NP_001305870.1:p.Phe209Ser, NP_001316168.1:p.Phe209Ser, NP_001316170.1:p.Phe209Ser, NP_001316169.1:p.Phe209Ser, XP_047301573.1:p.Phe209Ser, XP_047301574.1:p.Phe209Ser, XP_047301577.1:p.Phe209Ser, XP_047301575.1:p.Phe209Ser, XP_047301576.1:p.Phe209Ser, XP_047301578.1:p.Phe209Ser, XP_047301579.1:p.Phe209Ser

Select item 14626166018.

rs1462616601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:187467900 (GRCh38)
2:188332627 (GRCh37)
Canonical SPDI:: NC_000002.12:187467899:C:G,NC_000002.12:187467899:C:T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.187467900C>G, NC_000002.12:g.187467900C>T, NC_000002.11:g.188332627C>G, NC_000002.11:g.188332627C>T, NG_029714.2:g.102861G>C, NG_029714.2:g.102861G>A, NM_006287.6:c.661G>C, NM_006287.6:c.661G>A, NM_006287.5:c.661G>C, NM_006287.5:c.661G>A, NM_006287.4:c.661G>C, NM_006287.4:c.661G>A, NM_001329239.2:c.661G>C, NM_001329239.2:c.661G>A, NM_001329239.1:c.661G>C, NM_001329239.1:c.661G>A, NM_001329241.2:c.661G>C, NM_001329241.2:c.661G>A, NM_001329241.1:c.661G>C, NM_001329241.1:c.661G>A, NM_001329240.2:c.661G>C, NM_001329240.2:c.661G>A, NM_001329240.1:c.661G>C, NM_001329240.1:c.661G>A, XM_047445617.1:c.661G>C, XM_047445617.1:c.661G>A, XM_047445618.1:c.661G>C, XM_047445618.1:c.661G>A, XM_047445621.1:c.661G>C, XM_047445621.1:c.661G>A, XM_047445619.1:c.661G>C, XM_047445619.1:c.661G>A, XM_047445620.1:c.661G>C, XM_047445620.1:c.661G>A, XM_047445622.1:c.661G>C, XM_047445622.1:c.661G>A, NP_006278.1:p.Ala221Pro, NP_006278.1:p.Ala221Thr, NP_001316168.1:p.Ala221Pro, NP_001316168.1:p.Ala221Thr, NP_001316170.1:p.Ala221Pro, NP_001316170.1:p.Ala221Thr, NP_001316169.1:p.Ala221Pro, NP_001316169.1:p.Ala221Thr, XP_047301573.1:p.Ala221Pro, XP_047301573.1:p.Ala221Thr, XP_047301574.1:p.Ala221Pro, XP_047301574.1:p.Ala221Thr, XP_047301577.1:p.Ala221Pro, XP_047301577.1:p.Ala221Thr, XP_047301575.1:p.Ala221Pro, XP_047301575.1:p.Ala221Thr, XP_047301576.1:p.Ala221Pro, XP_047301576.1:p.Ala221Thr, XP_047301578.1:p.Ala221Pro, XP_047301578.1:p.Ala221Thr

Select item 14599927379.

rs1459992737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:187466996 (GRCh38)
2:188331723 (GRCh37)
Canonical SPDI:: NC_000002.12:187466995:T:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_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_000002.12:g.187466996T>C, NC_000002.11:g.188331723T>C, NG_029714.2:g.103765A>G, NM_006287.6:c.855A>G, NM_006287.5:c.855A>G, NM_006287.4:c.855A>G, NM_001329239.2:c.855A>G, NM_001329239.1:c.855A>G, NM_001329241.2:c.855A>G, NM_001329241.1:c.855A>G, NM_001329240.2:c.855A>G, NM_001329240.1:c.855A>G, XM_047445617.1:c.855A>G, XM_047445618.1:c.855A>G, XM_047445621.1:c.855A>G, XM_047445619.1:c.855A>G, XM_047445620.1:c.855A>G, XM_047445622.1:c.855A>G

Select item 145881594210.

rs1458815942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:187497052 (GRCh38)
2:188361779 (GRCh37)
Canonical SPDI:: NC_000002.12:187497051:T:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187497052T>G, NC_000002.11:g.188361779T>G, NG_029714.2:g.73709A>C, NM_006287.6:c.148A>C, NM_006287.5:c.148A>C, NM_006287.4:c.148A>C, NM_001032281.4:c.148A>C, NM_001032281.3:c.148A>C, NM_001032281.2:c.148A>C, NM_001318941.3:c.148A>C, NM_001318941.2:c.148A>C, NM_001318941.1:c.148A>C, NM_001329239.2:c.148A>C, NM_001329239.1:c.148A>C, NM_001329241.2:c.148A>C, NM_001329241.1:c.148A>C, NM_001329240.2:c.148A>C, NM_001329240.1:c.148A>C, XM_047445617.1:c.148A>C, XM_047445618.1:c.148A>C, XM_047445621.1:c.148A>C, XM_047445619.1:c.148A>C, XM_047445620.1:c.148A>C, XM_047445622.1:c.148A>C, XM_047445623.1:c.148A>C, NP_006278.1:p.Met50Leu, NP_001027452.1:p.Met50Leu, NP_001305870.1:p.Met50Leu, NP_001316168.1:p.Met50Leu, NP_001316170.1:p.Met50Leu, NP_001316169.1:p.Met50Leu, XP_047301573.1:p.Met50Leu, XP_047301574.1:p.Met50Leu, XP_047301577.1:p.Met50Leu, XP_047301575.1:p.Met50Leu, XP_047301576.1:p.Met50Leu, XP_047301578.1:p.Met50Leu, XP_047301579.1:p.Met50Leu

Select item 145827971511.

rs1458279715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:187503712 (GRCh38)
2:188368439 (GRCh37)
Canonical SPDI:: NC_000002.12:187503711:A:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.187503712A>C, NC_000002.11:g.188368439A>C, NG_029714.2:g.67049T>G, NM_006287.6:c.57T>G, NM_006287.5:c.57T>G, NM_006287.4:c.57T>G, NM_001032281.4:c.57T>G, NM_001032281.3:c.57T>G, NM_001032281.2:c.57T>G, NM_001318941.3:c.57T>G, NM_001318941.2:c.57T>G, NM_001318941.1:c.57T>G, NM_001329239.2:c.57T>G, NM_001329239.1:c.57T>G, NM_001329241.2:c.57T>G, NM_001329241.1:c.57T>G, NM_001329240.2:c.57T>G, NM_001329240.1:c.57T>G, XM_047445617.1:c.57T>G, XM_047445618.1:c.57T>G, XM_047445621.1:c.57T>G, XM_047445619.1:c.57T>G, XM_047445620.1:c.57T>G, XM_047445622.1:c.57T>G, XM_047445623.1:c.57T>G

Select item 145498381012.

rs1454983810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:187484871 (GRCh38)
2:188349598 (GRCh37)
Canonical SPDI:: NC_000002.12:187484870:G:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.187484871G>A, NC_000002.11:g.188349598G>A, NG_029714.2:g.85890C>T, NM_006287.6:c.475C>T, NM_006287.5:c.475C>T, NM_006287.4:c.475C>T, NM_001032281.4:c.475C>T, NM_001032281.3:c.475C>T, NM_001032281.2:c.475C>T, NM_001318941.3:c.475C>T, NM_001318941.2:c.475C>T, NM_001318941.1:c.475C>T, NM_001329239.2:c.475C>T, NM_001329239.1:c.475C>T, NM_001329241.2:c.475C>T, NM_001329241.1:c.475C>T, NM_001329240.2:c.475C>T, NM_001329240.1:c.475C>T, XM_047445617.1:c.475C>T, XM_047445618.1:c.475C>T, XM_047445621.1:c.475C>T, XM_047445619.1:c.475C>T, XM_047445620.1:c.475C>T, XM_047445622.1:c.475C>T, XM_047445623.1:c.475C>T

Select item 144760361913.

rs1447603619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:187466959 (GRCh38)
2:188331686 (GRCh37)
Canonical SPDI:: NC_000002.12:187466958:C:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.187466959C>A, NC_000002.11:g.188331686C>A, NG_029714.2:g.103802G>T, NM_006287.6:c.892G>T, NM_006287.5:c.892G>T, NM_006287.4:c.892G>T, NM_001329239.2:c.892G>T, NM_001329239.1:c.892G>T, NM_001329241.2:c.892G>T, NM_001329241.1:c.892G>T, NM_001329240.2:c.892G>T, NM_001329240.1:c.892G>T, XM_047445617.1:c.892G>T, XM_047445618.1:c.892G>T, XM_047445621.1:c.892G>T, XM_047445619.1:c.892G>T, XM_047445620.1:c.892G>T, XM_047445622.1:c.892G>T, NP_006278.1:p.Glu298Ter, NP_001316168.1:p.Glu298Ter, NP_001316170.1:p.Glu298Ter, NP_001316169.1:p.Glu298Ter, XP_047301573.1:p.Glu298Ter, XP_047301574.1:p.Glu298Ter, XP_047301577.1:p.Glu298Ter, XP_047301575.1:p.Glu298Ter, XP_047301576.1:p.Glu298Ter, XP_047301578.1:p.Glu298Ter

Select item 143656942614.

rs1436569426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:187496965 (GRCh38)
2:188361692 (GRCh37)
Canonical SPDI:: NC_000002.12:187496964:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187496965A>G, NC_000002.11:g.188361692A>G, NG_029714.2:g.73796T>C, NM_006287.6:c.235T>C, NM_006287.5:c.235T>C, NM_006287.4:c.235T>C, NM_001032281.4:c.235T>C, NM_001032281.3:c.235T>C, NM_001032281.2:c.235T>C, NM_001318941.3:c.235T>C, NM_001318941.2:c.235T>C, NM_001318941.1:c.235T>C, NM_001329239.2:c.235T>C, NM_001329239.1:c.235T>C, NM_001329241.2:c.235T>C, NM_001329241.1:c.235T>C, NM_001329240.2:c.235T>C, NM_001329240.1:c.235T>C, XM_047445617.1:c.235T>C, XM_047445618.1:c.235T>C, XM_047445621.1:c.235T>C, XM_047445619.1:c.235T>C, XM_047445620.1:c.235T>C, XM_047445622.1:c.235T>C, XM_047445623.1:c.235T>C, NP_006278.1:p.Cys79Arg, NP_001027452.1:p.Cys79Arg, NP_001305870.1:p.Cys79Arg, NP_001316168.1:p.Cys79Arg, NP_001316170.1:p.Cys79Arg, NP_001316169.1:p.Cys79Arg, XP_047301573.1:p.Cys79Arg, XP_047301574.1:p.Cys79Arg, XP_047301577.1:p.Cys79Arg, XP_047301575.1:p.Cys79Arg, XP_047301576.1:p.Cys79Arg, XP_047301578.1:p.Cys79Arg, XP_047301579.1:p.Cys79Arg

Select item 143292881815.

rs1432928818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:187484923 (GRCh38)
2:188349650 (GRCh37)
Canonical SPDI:: NC_000002.12:187484922:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187484923A>G, NC_000002.11:g.188349650A>G, NG_029714.2:g.85838T>C, NM_006287.6:c.423T>C, NM_006287.5:c.423T>C, NM_006287.4:c.423T>C, NM_001032281.4:c.423T>C, NM_001032281.3:c.423T>C, NM_001032281.2:c.423T>C, NM_001318941.3:c.423T>C, NM_001318941.2:c.423T>C, NM_001318941.1:c.423T>C, NM_001329239.2:c.423T>C, NM_001329239.1:c.423T>C, NM_001329241.2:c.423T>C, NM_001329241.1:c.423T>C, NM_001329240.2:c.423T>C, NM_001329240.1:c.423T>C, XM_047445617.1:c.423T>C, XM_047445618.1:c.423T>C, XM_047445621.1:c.423T>C, XM_047445619.1:c.423T>C, XM_047445620.1:c.423T>C, XM_047445622.1:c.423T>C, XM_047445623.1:c.423T>C

Select item 142395438616.

rs1423954386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:187497013 (GRCh38)
2:188361740 (GRCh37)
Canonical SPDI:: NC_000002.12:187497012:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.187497013A>G, NC_000002.11:g.188361740A>G, NG_029714.2:g.73748T>C, NM_006287.6:c.187T>C, NM_006287.5:c.187T>C, NM_006287.4:c.187T>C, NM_001032281.4:c.187T>C, NM_001032281.3:c.187T>C, NM_001032281.2:c.187T>C, NM_001318941.3:c.187T>C, NM_001318941.2:c.187T>C, NM_001318941.1:c.187T>C, NM_001329239.2:c.187T>C, NM_001329239.1:c.187T>C, NM_001329241.2:c.187T>C, NM_001329241.1:c.187T>C, NM_001329240.2:c.187T>C, NM_001329240.1:c.187T>C, XM_047445617.1:c.187T>C, XM_047445618.1:c.187T>C, XM_047445621.1:c.187T>C, XM_047445619.1:c.187T>C, XM_047445620.1:c.187T>C, XM_047445622.1:c.187T>C, XM_047445623.1:c.187T>C, NP_006278.1:p.Cys63Arg, NP_001027452.1:p.Cys63Arg, NP_001305870.1:p.Cys63Arg, NP_001316168.1:p.Cys63Arg, NP_001316170.1:p.Cys63Arg, NP_001316169.1:p.Cys63Arg, XP_047301573.1:p.Cys63Arg, XP_047301574.1:p.Cys63Arg, XP_047301577.1:p.Cys63Arg, XP_047301575.1:p.Cys63Arg, XP_047301576.1:p.Cys63Arg, XP_047301578.1:p.Cys63Arg, XP_047301579.1:p.Cys63Arg

Select item 141480284917.

rs1414802849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:187503759 (GRCh38)
2:188368486 (GRCh37)
Canonical SPDI:: NC_000002.12:187503758:T:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.187503759T>C, NC_000002.11:g.188368486T>C, NG_029714.2:g.67002A>G, NM_006287.6:c.10A>G, NM_006287.5:c.10A>G, NM_006287.4:c.10A>G, NM_001032281.4:c.10A>G, NM_001032281.3:c.10A>G, NM_001032281.2:c.10A>G, NM_001318941.3:c.10A>G, NM_001318941.2:c.10A>G, NM_001318941.1:c.10A>G, NM_001329239.2:c.10A>G, NM_001329239.1:c.10A>G, NM_001329241.2:c.10A>G, NM_001329241.1:c.10A>G, NM_001329240.2:c.10A>G, NM_001329240.1:c.10A>G, XM_047445617.1:c.10A>G, XM_047445618.1:c.10A>G, XM_047445621.1:c.10A>G, XM_047445619.1:c.10A>G, XM_047445620.1:c.10A>G, XM_047445622.1:c.10A>G, XM_047445623.1:c.10A>G, NP_006278.1:p.Thr4Ala, NP_001027452.1:p.Thr4Ala, NP_001305870.1:p.Thr4Ala, NP_001316168.1:p.Thr4Ala, NP_001316170.1:p.Thr4Ala, NP_001316169.1:p.Thr4Ala, XP_047301573.1:p.Thr4Ala, XP_047301574.1:p.Thr4Ala, XP_047301577.1:p.Thr4Ala, XP_047301575.1:p.Thr4Ala, XP_047301576.1:p.Thr4Ala, XP_047301578.1:p.Thr4Ala, XP_047301579.1:p.Thr4Ala

Select item 141472454618.

rs1414724546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:187488348 (GRCh38)
2:188353075 (GRCh37)
Canonical SPDI:: NC_000002.12:187488347:G:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.187488348G>A, NC_000002.11:g.188353075G>A, NG_029714.2:g.82413C>T, NM_006287.6:c.347C>T, NM_006287.5:c.347C>T, NM_006287.4:c.347C>T, NM_001032281.4:c.347C>T, NM_001032281.3:c.347C>T, NM_001032281.2:c.347C>T, NM_001318941.3:c.347C>T, NM_001318941.2:c.347C>T, NM_001318941.1:c.347C>T, NM_001329239.2:c.347C>T, NM_001329239.1:c.347C>T, NM_001329241.2:c.347C>T, NM_001329241.1:c.347C>T, NM_001329240.2:c.347C>T, NM_001329240.1:c.347C>T, XM_047445617.1:c.347C>T, XM_047445618.1:c.347C>T, XM_047445621.1:c.347C>T, XM_047445619.1:c.347C>T, XM_047445620.1:c.347C>T, XM_047445622.1:c.347C>T, XM_047445623.1:c.347C>T, NP_006278.1:p.Thr116Ile, NP_001027452.1:p.Thr116Ile, NP_001305870.1:p.Thr116Ile, NP_001316168.1:p.Thr116Ile, NP_001316170.1:p.Thr116Ile, NP_001316169.1:p.Thr116Ile, XP_047301573.1:p.Thr116Ile, XP_047301574.1:p.Thr116Ile, XP_047301577.1:p.Thr116Ile, XP_047301575.1:p.Thr116Ile, XP_047301576.1:p.Thr116Ile, XP_047301578.1:p.Thr116Ile, XP_047301579.1:p.Thr116Ile

Select item 141382755519.

rs1413827555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:187466987 (GRCh38)
2:188331714 (GRCh37)
Canonical SPDI:: NC_000002.12:187466986:C:T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187466987C>T, NC_000002.11:g.188331714C>T, NG_029714.2:g.103774G>A, NM_006287.6:c.864G>A, NM_006287.5:c.864G>A, NM_006287.4:c.864G>A, NM_001329239.2:c.864G>A, NM_001329239.1:c.864G>A, NM_001329241.2:c.864G>A, NM_001329241.1:c.864G>A, NM_001329240.2:c.864G>A, NM_001329240.1:c.864G>A, XM_047445617.1:c.864G>A, XM_047445618.1:c.864G>A, XM_047445621.1:c.864G>A, XM_047445619.1:c.864G>A, XM_047445620.1:c.864G>A, XM_047445622.1:c.864G>A

Select item 141200084720.

rs1412000847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:187503686 (GRCh38)
2:188368413 (GRCh37)
Canonical SPDI:: NC_000002.12:187503685:G:T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.187503686G>T, NC_000002.11:g.188368413G>T, NG_029714.2:g.67075C>A, NM_006287.6:c.83C>A, NM_006287.5:c.83C>A, NM_006287.4:c.83C>A, NM_001032281.4:c.83C>A, NM_001032281.3:c.83C>A, NM_001032281.2:c.83C>A, NM_001318941.3:c.83C>A, NM_001318941.2:c.83C>A, NM_001318941.1:c.83C>A, NM_001329239.2:c.83C>A, NM_001329239.1:c.83C>A, NM_001329241.2:c.83C>A, NM_001329241.1:c.83C>A, NM_001329240.2:c.83C>A, NM_001329240.1:c.83C>A, XM_047445617.1:c.83C>A, XM_047445618.1:c.83C>A, XM_047445621.1:c.83C>A, XM_047445619.1:c.83C>A, XM_047445620.1:c.83C>A, XM_047445622.1:c.83C>A, XM_047445623.1:c.83C>A, NP_006278.1:p.Ala28Asp, NP_001027452.1:p.Ala28Asp, NP_001305870.1:p.Ala28Asp, NP_001316168.1:p.Ala28Asp, NP_001316170.1:p.Ala28Asp, NP_001316169.1:p.Ala28Asp, XP_047301573.1:p.Ala28Asp, XP_047301574.1:p.Ala28Asp, XP_047301577.1:p.Ala28Asp, XP_047301575.1:p.Ala28Asp, XP_047301576.1:p.Ala28Asp, XP_047301578.1:p.Ala28Asp, XP_047301579.1:p.Ala28Asp

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