SNP Links for Protein (Select 573459745) - SNP

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Links from Protein

Items: 1 to 20 of 493

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Select item 14891921801.

rs1489192180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94563823 (GRCh38)
14:95030160 (GRCh37)
Canonical SPDI:: NC_000014.9:94563822:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94563823A>G, NC_000014.8:g.95030160A>G, NG_032908.2:g.7382A>G, NM_006215.4:c.341A>G, NM_006215.3:c.341A>G, NM_006215.2:c.341A>G, NM_001289032.2:c.452A>G, NM_001289032.1:c.452A>G, NM_001289033.2:c.341A>G, NM_001289033.1:c.341A>G, NP_006206.2:p.Glu114Gly, NP_001275961.1:p.Glu151Gly, NP_001275962.1:p.Glu114Gly

Select item 14867705972.

rs1486770597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:94564131 (GRCh38)
14:95030468 (GRCh37)
Canonical SPDI:: NC_000014.9:94564130:G:A,NC_000014.9:94564130:G:T
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.94564131G>A, NC_000014.9:g.94564131G>T, NC_000014.8:g.95030468G>A, NC_000014.8:g.95030468G>T, NG_032908.2:g.7690G>A, NG_032908.2:g.7690G>T, NM_006215.4:c.649G>A, NM_006215.4:c.649G>T, NM_006215.3:c.649G>A, NM_006215.3:c.649G>T, NM_006215.2:c.649G>A, NM_006215.2:c.649G>T, NM_001289032.2:c.760G>A, NM_001289032.2:c.760G>T, NM_001289032.1:c.760G>A, NM_001289032.1:c.760G>T, NM_001289033.2:c.649G>A, NM_001289033.2:c.649G>T, NM_001289033.1:c.649G>A, NM_001289033.1:c.649G>T, NP_006206.2:p.Ala217Thr, NP_006206.2:p.Ala217Ser, NP_001275961.1:p.Ala254Thr, NP_001275961.1:p.Ala254Ser, NP_001275962.1:p.Ala217Thr, NP_001275962.1:p.Ala217Ser

Select item 14863062393.

rs1486306239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:94566989 (GRCh38)
14:95033326 (GRCh37)
Canonical SPDI:: NC_000014.9:94566988:C:A
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94566989C>A, NC_000014.8:g.95033326C>A, NG_032908.2:g.10548C>A, NM_006215.4:c.669C>A, NM_006215.3:c.669C>A, NM_006215.2:c.669C>A, NM_001289032.2:c.780C>A, NM_001289032.1:c.780C>A, NM_001289033.2:c.669C>A, NM_001289033.1:c.669C>A, NP_006206.2:p.Phe223Leu, NP_001275961.1:p.Phe260Leu, NP_001275962.1:p.Phe223Leu

Select item 14838630684.

rs1483863068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:94568210 (GRCh38)
14:95034547 (GRCh37)
Canonical SPDI:: NC_000014.9:94568209:G:A,NC_000014.9:94568209:G:T
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.94568210G>A, NC_000014.9:g.94568210G>T, NC_000014.8:g.95034547G>A, NC_000014.8:g.95034547G>T, NG_032908.2:g.11769G>A, NG_032908.2:g.11769G>T, NM_006215.4:c.1005G>A, NM_006215.4:c.1005G>T, NM_006215.3:c.1005G>A, NM_006215.3:c.1005G>T, NM_006215.2:c.1005G>A, NM_006215.2:c.1005G>T, NM_001289032.2:c.1116G>A, NM_001289032.2:c.1116G>T, NM_001289032.1:c.1116G>A, NM_001289032.1:c.1116G>T, NM_001289033.2:c.1005G>A, NM_001289033.2:c.1005G>T, NM_001289033.1:c.1005G>A, NM_001289033.1:c.1005G>T, NP_006206.2:p.Arg335Ser, NP_001275961.1:p.Arg372Ser, NP_001275962.1:p.Arg335Ser

Select item 14806843325.

rs1480684332 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:94567037 (GRCh38)
14:95033374 (GRCh37)
Canonical SPDI:: NC_000014.9:94567036:A:C,NC_000014.9:94567036:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94567037A>C, NC_000014.9:g.94567037A>G, NC_000014.8:g.95033374A>C, NC_000014.8:g.95033374A>G, NG_032908.2:g.10596A>C, NG_032908.2:g.10596A>G, NM_006215.4:c.717A>C, NM_006215.4:c.717A>G, NM_006215.3:c.717A>C, NM_006215.3:c.717A>G, NM_006215.2:c.717A>C, NM_006215.2:c.717A>G, NM_001289032.2:c.828A>C, NM_001289032.2:c.828A>G, NM_001289032.1:c.828A>C, NM_001289032.1:c.828A>G, NM_001289033.2:c.717A>C, NM_001289033.2:c.717A>G, NM_001289033.1:c.717A>C, NM_001289033.1:c.717A>G

Select item 14800330506.

rs1480033050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:94569400 (GRCh38)
14:95035737 (GRCh37)
Canonical SPDI:: NC_000014.9:94569399:C:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.94569400C>G, NC_000014.8:g.95035737C>G, NG_032908.2:g.12959C>G, NM_006215.4:c.1089C>G, NM_006215.3:c.1089C>G, NM_006215.2:c.1089C>G, NM_001289032.2:c.1200C>G, NM_001289032.1:c.1200C>G, NM_001289033.2:c.1089C>G, NM_001289033.1:c.1089C>G, NP_006206.2:p.Phe363Leu, NP_001275961.1:p.Phe400Leu, NP_001275962.1:p.Phe363Leu

Select item 14799313127.

rs1479931312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94567126 (GRCh38)
14:95033463 (GRCh37)
Canonical SPDI:: NC_000014.9:94567125:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94567126A>G, NC_000014.8:g.95033463A>G, NG_032908.2:g.10685A>G, NM_006215.4:c.806A>G, NM_006215.3:c.806A>G, NM_006215.2:c.806A>G, NM_001289032.2:c.917A>G, NM_001289032.1:c.917A>G, NM_001289033.2:c.806A>G, NM_001289033.1:c.806A>G, NP_006206.2:p.Asp269Gly, NP_001275961.1:p.Asp306Gly, NP_001275962.1:p.Asp269Gly

Select item 14786639418.

rs1478663941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94568248 (GRCh38)
14:95034585 (GRCh37)
Canonical SPDI:: NC_000014.9:94568247:T:C
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94568248T>C, NC_000014.8:g.95034585T>C, NG_032908.2:g.11807T>C, NM_006215.4:c.1043T>C, NM_006215.3:c.1043T>C, NM_006215.2:c.1043T>C, NM_001289032.2:c.1154T>C, NM_001289032.1:c.1154T>C, NM_001289033.2:c.1043T>C, NM_001289033.1:c.1043T>C, NP_006206.2:p.Leu348Ser, NP_001275961.1:p.Leu385Ser, NP_001275962.1:p.Leu348Ser

Select item 14701719509.

rs1470171950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94563528 (GRCh38)
14:95029865 (GRCh37)
Canonical SPDI:: NC_000014.9:94563527:G:A
Gene:: SERPINA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94563528G>A, NC_000014.8:g.95029865G>A, NG_032908.2:g.7087G>A, NM_006215.4:c.46G>A, NM_006215.3:c.46G>A, NM_006215.2:c.46G>A, NM_001289032.2:c.157G>A, NM_001289032.1:c.157G>A, NM_001289033.2:c.46G>A, NM_001289033.1:c.46G>A, NP_006206.2:p.Ala16Thr, NP_001275961.1:p.Ala53Thr, NP_001275962.1:p.Ala16Thr

Select item 146810844910.

rs1468108449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94564000 (GRCh38)
14:95030337 (GRCh37)
Canonical SPDI:: NC_000014.9:94563999:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94564000A>G, NC_000014.8:g.95030337A>G, NG_032908.2:g.7559A>G, NM_006215.4:c.518A>G, NM_006215.3:c.518A>G, NM_006215.2:c.518A>G, NM_001289032.2:c.629A>G, NM_001289032.1:c.629A>G, NM_001289033.2:c.518A>G, NM_001289033.1:c.518A>G, NP_006206.2:p.Tyr173Cys, NP_001275961.1:p.Tyr210Cys, NP_001275962.1:p.Tyr173Cys

Select item 146632482211.

rs1466324822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94568138 (GRCh38)
14:95034475 (GRCh37)
Canonical SPDI:: NC_000014.9:94568137:C:T
Gene:: SERPINA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94568138C>T, NC_000014.8:g.95034475C>T, NG_032908.2:g.11697C>T, NM_006215.4:c.933C>T, NM_006215.3:c.933C>T, NM_006215.2:c.933C>T, NM_001289032.2:c.1044C>T, NM_001289032.1:c.1044C>T, NM_001289033.2:c.933C>T, NM_001289033.1:c.933C>T

Select item 146327800712.

rs1463278007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:94563825 (GRCh38)
14:95030162 (GRCh37)
Canonical SPDI:: NC_000014.9:94563824:T:A
Gene:: SERPINA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94563825T>A, NC_000014.8:g.95030162T>A, NG_032908.2:g.7384T>A, NM_006215.4:c.343T>A, NM_006215.3:c.343T>A, NM_006215.2:c.343T>A, NM_001289032.2:c.454T>A, NM_001289032.1:c.454T>A, NM_001289033.2:c.343T>A, NM_001289033.1:c.343T>A, NP_006206.2:p.Ser115Thr, NP_001275961.1:p.Ser152Thr, NP_001275962.1:p.Ser115Thr

Select item 145891873413.

rs1458918734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:94568260 (GRCh38)
14:95034597 (GRCh37)
Canonical SPDI:: NC_000014.9:94568259:C:A,NC_000014.9:94568259:C:T
Gene:: SERPINA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94568260C>A, NC_000014.9:g.94568260C>T, NC_000014.8:g.95034597C>A, NC_000014.8:g.95034597C>T, NG_032908.2:g.11819C>A, NG_032908.2:g.11819C>T, NM_006215.4:c.1055C>A, NM_006215.4:c.1055C>T, NM_006215.3:c.1055C>A, NM_006215.3:c.1055C>T, NM_006215.2:c.1055C>A, NM_006215.2:c.1055C>T, NM_001289032.2:c.1166C>A, NM_001289032.2:c.1166C>T, NM_001289032.1:c.1166C>A, NM_001289032.1:c.1166C>T, NM_001289033.2:c.1055C>A, NM_001289033.2:c.1055C>T, NM_001289033.1:c.1055C>A, NM_001289033.1:c.1055C>T, NP_006206.2:p.Thr352Asn, NP_006206.2:p.Thr352Ile, NP_001275961.1:p.Thr389Asn, NP_001275961.1:p.Thr389Ile, NP_001275962.1:p.Thr352Asn, NP_001275962.1:p.Thr352Ile

Select item 145517496114.

rs1455174961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94563701 (GRCh38)
14:95030038 (GRCh37)
Canonical SPDI:: NC_000014.9:94563700:G:A
Gene:: SERPINA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.94563701G>A, NC_000014.8:g.95030038G>A, NG_032908.2:g.7260G>A, NM_006215.4:c.219G>A, NM_006215.3:c.219G>A, NM_006215.2:c.219G>A, NM_001289032.2:c.330G>A, NM_001289032.1:c.330G>A, NM_001289033.2:c.219G>A, NM_001289033.1:c.219G>A

Select item 145286441215.

rs1452864412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94563608 (GRCh38)
14:95029945 (GRCh37)
Canonical SPDI:: NC_000014.9:94563607:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.94563608A>G, NC_000014.8:g.95029945A>G, NG_032908.2:g.7167A>G, NM_006215.4:c.126A>G, NM_006215.3:c.126A>G, NM_006215.2:c.126A>G, NM_001289032.2:c.237A>G, NM_001289032.1:c.237A>G, NM_001289033.2:c.126A>G, NM_001289033.1:c.126A>G

Select item 145063497916.

rs1450634979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94563957 (GRCh38)
14:95030294 (GRCh37)
Canonical SPDI:: NC_000014.9:94563956:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.94563957A>G, NC_000014.8:g.95030294A>G, NG_032908.2:g.7516A>G, NM_006215.4:c.475A>G, NM_006215.3:c.475A>G, NM_006215.2:c.475A>G, NM_001289032.2:c.586A>G, NM_001289032.1:c.586A>G, NM_001289033.2:c.475A>G, NM_001289033.1:c.475A>G, NP_006206.2:p.Thr159Ala, NP_001275961.1:p.Thr196Ala, NP_001275962.1:p.Thr159Ala

Select item 144834160517.

rs1448341605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94563510 (GRCh38)
14:95029847 (GRCh37)
Canonical SPDI:: NC_000014.9:94563509:C:T
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94563510C>T, NC_000014.8:g.95029847C>T, NG_032908.2:g.7069C>T, NM_006215.4:c.28C>T, NM_006215.3:c.28C>T, NM_006215.2:c.28C>T, NM_001289032.2:c.139C>T, NM_001289032.1:c.139C>T, NM_001289033.2:c.28C>T, NM_001289033.1:c.28C>T

Select item 144357505318.

rs1443575053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:94564005 (GRCh38)
14:95030342 (GRCh37)
Canonical SPDI:: NC_000014.9:94564004:A:C,NC_000014.9:94564004:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94564005A>C, NC_000014.9:g.94564005A>G, NC_000014.8:g.95030342A>C, NC_000014.8:g.95030342A>G, NG_032908.2:g.7564A>C, NG_032908.2:g.7564A>G, NM_006215.4:c.523A>C, NM_006215.4:c.523A>G, NM_006215.3:c.523A>C, NM_006215.3:c.523A>G, NM_006215.2:c.523A>C, NM_006215.2:c.523A>G, NM_001289032.2:c.634A>C, NM_001289032.2:c.634A>G, NM_001289032.1:c.634A>C, NM_001289032.1:c.634A>G, NM_001289033.2:c.523A>C, NM_001289033.2:c.523A>G, NM_001289033.1:c.523A>C, NM_001289033.1:c.523A>G, NP_006206.2:p.Thr175Pro, NP_006206.2:p.Thr175Ala, NP_001275961.1:p.Thr212Pro, NP_001275961.1:p.Thr212Ala, NP_001275962.1:p.Thr175Pro, NP_001275962.1:p.Thr175Ala

Select item 144329291019.

rs1443292910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94567104 (GRCh38)
14:95033441 (GRCh37)
Canonical SPDI:: NC_000014.9:94567103:C:T
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00018/3 (TOMMO)
T=0.00109/2 (Korea1K)
T=0.00137/4 (KOREAN)
HGVS:: NC_000014.9:g.94567104C>T, NC_000014.8:g.95033441C>T, NG_032908.2:g.10663C>T, NM_006215.4:c.784C>T, NM_006215.3:c.784C>T, NM_006215.2:c.784C>T, NM_001289032.2:c.895C>T, NM_001289032.1:c.895C>T, NM_001289033.2:c.784C>T, NM_001289033.1:c.784C>T, NP_006206.2:p.Pro262Ser, NP_001275961.1:p.Pro299Ser, NP_001275962.1:p.Pro262Ser

Select item 144321872920.

rs1443218729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94563783 (GRCh38)
14:95030120 (GRCh37)
Canonical SPDI:: NC_000014.9:94563782:A:G
Gene:: SERPINA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.94563783A>G, NC_000014.8:g.95030120A>G, NG_032908.2:g.7342A>G, NM_006215.4:c.301A>G, NM_006215.3:c.301A>G, NM_006215.2:c.301A>G, NM_001289032.2:c.412A>G, NM_001289032.1:c.412A>G, NM_001289033.2:c.301A>G, NM_001289033.1:c.301A>G, NP_006206.2:p.Ile101Val, NP_001275961.1:p.Ile138Val, NP_001275962.1:p.Ile101Val

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