SNP Links for Protein (Select 260064050) - SNP

Select item 14880726811.

rs1488072681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1752680 (GRCh38)
17:1655974 (GRCh37)
Canonical SPDI:: NC_000017.11:1752679:G:A
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1752680G>A, NC_000017.10:g.1655974G>A, NG_013215.1:g.14845G>A, NM_000934.4:c.953G>A, NM_000934.3:c.953G>A, NM_001165921.2:c.761G>A, NM_001165921.1:c.761G>A, NM_001165920.1:c.953G>A, NT_187611.1:g.181629G>A, XM_005256701.5:c.1001G>A, XM_005256701.4:c.1001G>A, XM_005256701.3:c.1001G>A, XM_005256701.2:c.953G>A, XM_005256701.1:c.953G>A, XM_017024765.2:c.965G>A, XM_017024765.1:c.965G>A, XM_047436303.1:c.965G>A, NP_000925.2:p.Ser318Asn, NP_001159393.1:p.Ser254Asn, NP_001159392.1:p.Ser318Asn, XP_005256758.2:p.Ser334Asn, XP_016880254.1:p.Ser322Asn, XP_047292259.1:p.Ser322Asn

Select item 14839531152.

rs1483953115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1754365 (GRCh38)
17:1657659 (GRCh37)
Canonical SPDI:: NC_000017.11:1754364:C:T
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1754365C>T, NC_000017.10:g.1657659C>T, NG_013215.1:g.16530C>T, NM_000934.4:c.1307C>T, NM_000934.3:c.1307C>T, NM_001165921.2:c.1115C>T, NM_001165921.1:c.1115C>T, NM_001165920.1:c.1307C>T, NT_187611.1:g.183314C>T, XM_005256701.5:c.1355C>T, XM_005256701.4:c.1355C>T, XM_005256701.3:c.1355C>T, XM_005256701.2:c.1307C>T, XM_005256701.1:c.1307C>T, XM_017024765.2:c.1319C>T, XM_017024765.1:c.1319C>T, XM_047436303.1:c.1319C>T, NP_000925.2:p.Pro436Leu, NP_001159393.1:p.Pro372Leu, NP_001159392.1:p.Pro436Leu, XP_005256758.2:p.Pro452Leu, XP_016880254.1:p.Pro440Leu, XP_047292259.1:p.Pro440Leu

Select item 14816469763.

rs1481646976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1745364 (GRCh38)
17:1648658 (GRCh37)
Canonical SPDI:: NC_000017.11:1745363:C:T
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1745364C>T, NC_000017.10:g.1648658C>T, NG_013215.1:g.7529C>T, NM_000934.4:c.134C>T, NM_000934.3:c.134C>T, NM_001165921.2:c.134C>T, NM_001165921.1:c.134C>T, NM_001165920.1:c.134C>T, NT_187611.1:g.174316C>T, XM_005256701.5:c.182C>T, XM_005256701.4:c.182C>T, XM_005256701.3:c.182C>T, XM_005256701.2:c.134C>T, XM_005256701.1:c.134C>T, XM_017024765.2:c.146C>T, XM_017024765.1:c.146C>T, XM_047436303.1:c.146C>T, NP_000925.2:p.Ser45Phe, NP_001159393.1:p.Ser45Phe, NP_001159392.1:p.Ser45Phe, XP_005256758.2:p.Ser61Phe, XP_016880254.1:p.Ser49Phe, XP_047292259.1:p.Ser49Phe

Select item 14802377434.

rs1480237743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:1752751 (GRCh38)
17:1656045 (GRCh37)
Canonical SPDI:: NC_000017.11:1752750:A:C
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1752751A>C, NC_000017.10:g.1656045A>C, NG_013215.1:g.14916A>C, NM_000934.4:c.1024A>C, NM_000934.3:c.1024A>C, NM_001165921.2:c.832A>C, NM_001165921.1:c.832A>C, NM_001165920.1:c.1024A>C, NT_187611.1:g.181700A>C, XM_005256701.5:c.1072A>C, XM_005256701.4:c.1072A>C, XM_005256701.3:c.1072A>C, XM_005256701.2:c.1024A>C, XM_005256701.1:c.1024A>C, XM_017024765.2:c.1036A>C, XM_017024765.1:c.1036A>C, XM_047436303.1:c.1036A>C, NP_000925.2:p.Lys342Gln, NP_001159393.1:p.Lys278Gln, NP_001159392.1:p.Lys342Gln, XP_005256758.2:p.Lys358Gln, XP_016880254.1:p.Lys346Gln, XP_047292259.1:p.Lys346Gln

Select item 14795511855.

rs1479551185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:1745373 (GRCh38)
17:1648667 (GRCh37)
Canonical SPDI:: NC_000017.11:1745372:C:A
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1745373C>A, NC_000017.10:g.1648667C>A, NG_013215.1:g.7538C>A, NM_000934.4:c.143C>A, NM_000934.3:c.143C>A, NM_001165921.2:c.143C>A, NM_001165921.1:c.143C>A, NM_001165920.1:c.143C>A, NT_187611.1:g.174325C>A, XM_005256701.5:c.191C>A, XM_005256701.4:c.191C>A, XM_005256701.3:c.191C>A, XM_005256701.2:c.143C>A, XM_005256701.1:c.143C>A, XM_017024765.2:c.155C>A, XM_017024765.1:c.155C>A, XM_047436303.1:c.155C>A, NP_000925.2:p.Thr48Asn, NP_001159393.1:p.Thr48Asn, NP_001159392.1:p.Thr48Asn, XP_005256758.2:p.Thr64Asn, XP_016880254.1:p.Thr52Asn, XP_047292259.1:p.Thr52Asn

Select item 14788330726.

rs1478833072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGC [Show Flanks]
Chromosome:: 17:1754233 (GRCh38)
17:1657528 (GRCh37)
Canonical SPDI:: NC_000017.11:1754233:GGCGGCGGCGGC:GGCGGCGGCGGCGGC
Gene:: SERPINF2 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGCGGCGGCGGC=0.000142/2 (ALFA)
GGC=0.000014/2 (GnomAD)
GGC=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.1754234GGC[5], NC_000017.10:g.1657528GGC[5], NG_013215.1:g.16399GGC[5], NM_000934.4:c.1176GGC[5], NM_000934.3:c.1176GGC[5], NM_001165921.2:c.984GGC[5], NM_001165921.1:c.984GGC[5], NM_001165920.1:c.1176GGC[5], NT_187611.1:g.183183GGC[5], XM_005256701.5:c.1224GGC[5], XM_005256701.4:c.1224GGC[5], XM_005256701.3:c.1224GGC[5], XM_005256701.2:c.1176GGC[5], XM_005256701.1:c.1176GGC[5], XM_017024765.2:c.1188GGC[5], XM_017024765.1:c.1188GGC[5], XM_047436303.1:c.1188GGC[5], NP_000925.2:p.Ala396dup, NP_001159393.1:p.Ala332dup, NP_001159392.1:p.Ala396dup, XP_005256758.2:p.Ala412dup, XP_016880254.1:p.Ala400dup, XP_047292259.1:p.Ala400dup

Select item 14774074447.

rs1477407444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1754295 (GRCh38)
17:1657589 (GRCh37)
Canonical SPDI:: NC_000017.11:1754294:C:T
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.1754295C>T, NC_000017.10:g.1657589C>T, NG_013215.1:g.16460C>T, NM_000934.4:c.1237C>T, NM_000934.3:c.1237C>T, NM_001165921.2:c.1045C>T, NM_001165921.1:c.1045C>T, NM_001165920.1:c.1237C>T, NT_187611.1:g.183244C>T, XM_005256701.5:c.1285C>T, XM_005256701.4:c.1285C>T, XM_005256701.3:c.1285C>T, XM_005256701.2:c.1237C>T, XM_005256701.1:c.1237C>T, XM_017024765.2:c.1249C>T, XM_017024765.1:c.1249C>T, XM_047436303.1:c.1249C>T, NP_000925.2:p.Arg413Cys, NP_001159393.1:p.Arg349Cys, NP_001159392.1:p.Arg413Cys, XP_005256758.2:p.Arg429Cys, XP_016880254.1:p.Arg417Cys, XP_047292259.1:p.Arg417Cys

Select item 14715730058.

rs1471573005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1754122 (GRCh38)
17:1657416 (GRCh37)
Canonical SPDI:: NC_000017.11:1754121:G:C
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1754122G>C, NC_000017.10:g.1657416G>C, NG_013215.1:g.16287G>C, NM_000934.4:c.1064G>C, NM_000934.3:c.1064G>C, NM_001165921.2:c.872G>C, NM_001165921.1:c.872G>C, NM_001165920.1:c.1064G>C, NT_187611.1:g.183071G>C, XM_005256701.5:c.1112G>C, XM_005256701.4:c.1112G>C, XM_005256701.3:c.1112G>C, XM_005256701.2:c.1064G>C, XM_005256701.1:c.1064G>C, XM_017024765.2:c.1076G>C, XM_017024765.1:c.1076G>C, XM_047436303.1:c.1076G>C, NP_000925.2:p.Gly355Ala, NP_001159393.1:p.Gly291Ala, NP_001159392.1:p.Gly355Ala, XP_005256758.2:p.Gly371Ala, XP_016880254.1:p.Gly359Ala, XP_047292259.1:p.Gly359Ala

Select item 14715620969.

rs1471562096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:1754496 (GRCh38)
17:1657790 (GRCh37)
Canonical SPDI:: NC_000017.11:1754495:A:C
Gene:: SERPINF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.1754496A>C, NC_000017.10:g.1657790A>C, NG_013215.1:g.16661A>C, NM_000934.4:c.1438A>C, NM_000934.3:c.1438A>C, NM_001165921.2:c.1246A>C, NM_001165921.1:c.1246A>C, NM_001165920.1:c.1438A>C, NT_187611.1:g.183445A>C, XM_005256701.5:c.1486A>C, XM_005256701.4:c.1486A>C, XM_005256701.3:c.1486A>C, XM_005256701.2:c.1438A>C, XM_005256701.1:c.1438A>C, XM_017024765.2:c.1450A>C, XM_017024765.1:c.1450A>C, XM_047436303.1:c.1450A>C, NP_000925.2:p.Met480Leu, NP_001159393.1:p.Met416Leu, NP_001159392.1:p.Met480Leu, XP_005256758.2:p.Met496Leu, XP_016880254.1:p.Met484Leu, XP_047292259.1:p.Met484Leu

Select item 147018869610.

rs1470188696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1745383 (GRCh38)
17:1648677 (GRCh37)
Canonical SPDI:: NC_000017.11:1745382:G:C
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1745383G>C, NC_000017.10:g.1648677G>C, NG_013215.1:g.7548G>C, NM_000934.4:c.153G>C, NM_000934.3:c.153G>C, NM_001165921.2:c.153G>C, NM_001165921.1:c.153G>C, NM_001165920.1:c.153G>C, NT_187611.1:g.174335G>C, XM_005256701.5:c.201G>C, XM_005256701.4:c.201G>C, XM_005256701.3:c.201G>C, XM_005256701.2:c.153G>C, XM_005256701.1:c.153G>C, XM_017024765.2:c.165G>C, XM_017024765.1:c.165G>C, XM_047436303.1:c.165G>C, NP_000925.2:p.Lys51Asn, NP_001159393.1:p.Lys51Asn, NP_001159392.1:p.Lys51Asn, XP_005256758.2:p.Lys67Asn, XP_016880254.1:p.Lys55Asn, XP_047292259.1:p.Lys55Asn

Select item 146925960211.

rs1469259602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:1747488 (GRCh38)
17:1650782 (GRCh37)
Canonical SPDI:: NC_000017.11:1747487:C:G
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1747488C>G, NC_000017.10:g.1650782C>G, NG_013215.1:g.9653C>G, NM_000934.4:c.691C>G, NM_000934.3:c.691C>G, NM_001165921.2:c.499C>G, NM_001165921.1:c.499C>G, NM_001165920.1:c.691C>G, NT_187611.1:g.176439C>G, XM_005256701.5:c.739C>G, XM_005256701.4:c.739C>G, XM_005256701.3:c.739C>G, XM_005256701.2:c.691C>G, XM_005256701.1:c.691C>G, XM_017024765.2:c.703C>G, XM_017024765.1:c.703C>G, XM_047436303.1:c.703C>G, NP_000925.2:p.Leu231Val, NP_001159393.1:p.Leu167Val, NP_001159392.1:p.Leu231Val, XP_005256758.2:p.Leu247Val, XP_016880254.1:p.Leu235Val, XP_047292259.1:p.Leu235Val

Select item 146915558112.

rs1469155581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1747127 (GRCh38)
17:1650421 (GRCh37)
Canonical SPDI:: NC_000017.11:1747126:C:T
Gene:: SERPINF2 (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)
HGVS:: NC_000017.11:g.1747127C>T, NC_000017.10:g.1650421C>T, NG_013215.1:g.9292C>T, NM_000934.4:c.476C>T, NM_000934.3:c.476C>T, NM_001165921.2:c.284C>T, NM_001165921.1:c.284C>T, NM_001165920.1:c.476C>T, NT_187611.1:g.176078C>T, XM_005256701.5:c.524C>T, XM_005256701.4:c.524C>T, XM_005256701.3:c.524C>T, XM_005256701.2:c.476C>T, XM_005256701.1:c.476C>T, XM_017024765.2:c.488C>T, XM_017024765.1:c.488C>T, XM_047436303.1:c.488C>T, NP_000925.2:p.Ala159Val, NP_001159393.1:p.Ala95Val, NP_001159392.1:p.Ala159Val, XP_005256758.2:p.Ala175Val, XP_016880254.1:p.Ala163Val, XP_047292259.1:p.Ala163Val

Select item 146613893513.

rs1466138935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:1752599 (GRCh38)
17:1655893 (GRCh37)
Canonical SPDI:: NC_000017.11:1752598:C:G,NC_000017.11:1752598:C:T
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1752599C>G, NC_000017.11:g.1752599C>T, NC_000017.10:g.1655893C>G, NC_000017.10:g.1655893C>T, NG_013215.1:g.14764C>G, NG_013215.1:g.14764C>T, NM_000934.4:c.872C>G, NM_000934.4:c.872C>T, NM_000934.3:c.872C>G, NM_000934.3:c.872C>T, NM_001165921.2:c.680C>G, NM_001165921.2:c.680C>T, NM_001165921.1:c.680C>G, NM_001165921.1:c.680C>T, NM_001165920.1:c.872C>G, NM_001165920.1:c.872C>T, NT_187611.1:g.181548C>G, NT_187611.1:g.181548C>T, XM_005256701.5:c.920C>G, XM_005256701.5:c.920C>T, XM_005256701.4:c.920C>G, XM_005256701.4:c.920C>T, XM_005256701.3:c.920C>G, XM_005256701.3:c.920C>T, XM_005256701.2:c.872C>G, XM_005256701.2:c.872C>T, XM_005256701.1:c.872C>G, XM_005256701.1:c.872C>T, XM_017024765.2:c.884C>G, XM_017024765.2:c.884C>T, XM_017024765.1:c.884C>G, XM_017024765.1:c.884C>T, XM_047436303.1:c.884C>G, XM_047436303.1:c.884C>T, NP_000925.2:p.Pro291Arg, NP_000925.2:p.Pro291Leu, NP_001159393.1:p.Pro227Arg, NP_001159393.1:p.Pro227Leu, NP_001159392.1:p.Pro291Arg, NP_001159392.1:p.Pro291Leu, XP_005256758.2:p.Pro307Arg, XP_005256758.2:p.Pro307Leu, XP_016880254.1:p.Pro295Arg, XP_016880254.1:p.Pro295Leu, XP_047292259.1:p.Pro295Arg, XP_047292259.1:p.Pro295Leu

Select item 146515029414.

rs1465150294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:1754509 (GRCh38)
17:1657803 (GRCh37)
Canonical SPDI:: NC_000017.11:1754508:A:G
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1754509A>G, NC_000017.10:g.1657803A>G, NG_013215.1:g.16674A>G, NM_000934.4:c.1451A>G, NM_000934.3:c.1451A>G, NM_001165921.2:c.1259A>G, NM_001165921.1:c.1259A>G, NM_001165920.1:c.1451A>G, NT_187611.1:g.183458A>G, XM_005256701.5:c.1499A>G, XM_005256701.4:c.1499A>G, XM_005256701.3:c.1499A>G, XM_005256701.2:c.1451A>G, XM_005256701.1:c.1451A>G, XM_017024765.2:c.1463A>G, XM_017024765.1:c.1463A>G, XM_047436303.1:c.1463A>G, NP_000925.2:p.Tyr484Cys, NP_001159393.1:p.Tyr420Cys, NP_001159392.1:p.Tyr484Cys, XP_005256758.2:p.Tyr500Cys, XP_016880254.1:p.Tyr488Cys, XP_047292259.1:p.Tyr488Cys

Select item 146485321215.

rs1464853212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1747475 (GRCh38)
17:1650769 (GRCh37)
Canonical SPDI:: NC_000017.11:1747474:C:T
Gene:: SERPINF2 (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)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.1747475C>T, NC_000017.10:g.1650769C>T, NG_013215.1:g.9640C>T, NM_000934.4:c.678C>T, NM_000934.3:c.678C>T, NM_001165921.2:c.486C>T, NM_001165921.1:c.486C>T, NM_001165920.1:c.678C>T, NT_187611.1:g.176426C>T, XM_005256701.5:c.726C>T, XM_005256701.4:c.726C>T, XM_005256701.3:c.726C>T, XM_005256701.2:c.678C>T, XM_005256701.1:c.678C>T, XM_017024765.2:c.690C>T, XM_017024765.1:c.690C>T, XM_047436303.1:c.690C>T

Select item 146293367516.

rs1462933675 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAGCAGGA>- [Show Flanks]
Chromosome:: 17:1754396 (GRCh38)
17:1657690 (GRCh37)
Canonical SPDI:: NC_000017.11:1754391:AGGAACAGCAGGA:AGGA
Gene:: SERPINF2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1754396_1754404del, NC_000017.10:g.1657690_1657698del, NG_013215.1:g.16561_16569del, NM_000934.4:c.1338_1346del, NM_000934.3:c.1338_1346del, NM_001165921.2:c.1146_1154del, NM_001165921.1:c.1146_1154del, NM_001165920.1:c.1338_1346del, NT_187611.1:g.183345_183353del, XM_005256701.5:c.1386_1394del, XM_005256701.4:c.1386_1394del, XM_005256701.3:c.1386_1394del, XM_005256701.2:c.1338_1346del, XM_005256701.1:c.1338_1346del, XM_017024765.2:c.1350_1358del, XM_017024765.1:c.1350_1358del, XM_047436303.1:c.1350_1358del, NP_000925.2:p.Glu446_Gln448del, NP_001159393.1:p.Glu382_Gln384del, NP_001159392.1:p.Glu446_Gln448del, XP_005256758.2:p.Glu462_Gln464del, XP_016880254.1:p.Glu450_Gln452del, XP_047292259.1:p.Glu450_Gln452del

Select item 145862116217.

rs1458621162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:1748664 (GRCh38)
17:1651958 (GRCh37)
Canonical SPDI:: NC_000017.11:1748663:T:C
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1748664T>C, NC_000017.10:g.1651958T>C, NG_013215.1:g.10829T>C, NM_000934.4:c.782T>C, NM_000934.3:c.782T>C, NM_001165921.2:c.590T>C, NM_001165921.1:c.590T>C, NM_001165920.1:c.782T>C, NT_187611.1:g.177613T>C, XM_005256701.5:c.830T>C, XM_005256701.4:c.830T>C, XM_005256701.3:c.830T>C, XM_005256701.2:c.782T>C, XM_005256701.1:c.782T>C, XM_017024765.2:c.794T>C, XM_017024765.1:c.794T>C, XM_047436303.1:c.794T>C, NP_000925.2:p.Phe261Ser, NP_001159393.1:p.Phe197Ser, NP_001159392.1:p.Phe261Ser, XP_005256758.2:p.Phe277Ser, XP_016880254.1:p.Phe265Ser, XP_047292259.1:p.Phe265Ser

Select item 145556632718.

rs1455566327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1747081 (GRCh38)
17:1650375 (GRCh37)
Canonical SPDI:: NC_000017.11:1747080:C:T
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.1747081C>T, NC_000017.10:g.1650375C>T, NG_013215.1:g.9246C>T, NM_000934.4:c.430C>T, NM_000934.3:c.430C>T, NM_001165921.2:c.238C>T, NM_001165921.1:c.238C>T, NM_001165920.1:c.430C>T, NT_187611.1:g.176032C>T, XM_005256701.5:c.478C>T, XM_005256701.4:c.478C>T, XM_005256701.3:c.478C>T, XM_005256701.2:c.430C>T, XM_005256701.1:c.430C>T, XM_017024765.2:c.442C>T, XM_017024765.1:c.442C>T, XM_047436303.1:c.442C>T, NP_000925.2:p.Leu144Phe, NP_001159393.1:p.Leu80Phe, NP_001159392.1:p.Leu144Phe, XP_005256758.2:p.Leu160Phe, XP_016880254.1:p.Leu148Phe, XP_047292259.1:p.Leu148Phe

Select item 145141141819.

rs1451411418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:1747493 (GRCh38)
17:1650787 (GRCh37)
Canonical SPDI:: NC_000017.11:1747492:C:G,NC_000017.11:1747492:C:T
Gene:: SERPINF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.1747493C>G, NC_000017.11:g.1747493C>T, NC_000017.10:g.1650787C>G, NC_000017.10:g.1650787C>T, NG_013215.1:g.9658C>G, NG_013215.1:g.9658C>T, NM_000934.4:c.696C>G, NM_000934.4:c.696C>T, NM_000934.3:c.696C>G, NM_000934.3:c.696C>T, NM_001165921.2:c.504C>G, NM_001165921.2:c.504C>T, NM_001165921.1:c.504C>G, NM_001165921.1:c.504C>T, NM_001165920.1:c.696C>G, NM_001165920.1:c.696C>T, NT_187611.1:g.176444C>G, NT_187611.1:g.176444C>T, XM_005256701.5:c.744C>G, XM_005256701.5:c.744C>T, XM_005256701.4:c.744C>G, XM_005256701.4:c.744C>T, XM_005256701.3:c.744C>G, XM_005256701.3:c.744C>T, XM_005256701.2:c.696C>G, XM_005256701.2:c.696C>T, XM_005256701.1:c.696C>G, XM_005256701.1:c.696C>T, XM_017024765.2:c.708C>G, XM_017024765.2:c.708C>T, XM_017024765.1:c.708C>G, XM_017024765.1:c.708C>T, XM_047436303.1:c.708C>G, XM_047436303.1:c.708C>T

Select item 145033895820.

rs1450338958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1747438 (GRCh38)
17:1650732 (GRCh37)
Canonical SPDI:: NC_000017.11:1747437:G:A
Gene:: SERPINF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.1747438G>A, NC_000017.10:g.1650732G>A, NG_013215.1:g.9603G>A, NM_000934.4:c.641G>A, NM_000934.3:c.641G>A, NM_001165921.2:c.449G>A, NM_001165921.1:c.449G>A, NM_001165920.1:c.641G>A, NT_187611.1:g.176389G>A, XM_005256701.5:c.689G>A, XM_005256701.4:c.689G>A, XM_005256701.3:c.689G>A, XM_005256701.2:c.641G>A, XM_005256701.1:c.641G>A, XM_017024765.2:c.653G>A, XM_017024765.1:c.653G>A, XM_047436303.1:c.653G>A, NP_000925.2:p.Gly214Glu, NP_001159393.1:p.Gly150Glu, NP_001159392.1:p.Gly214Glu, XP_005256758.2:p.Gly230Glu, XP_016880254.1:p.Gly218Glu, XP_047292259.1:p.Gly218Glu

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