SNP Links for Protein (Select 70906435) - SNP

Select item 14895862761.

rs1489586276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154567618 (GRCh38)
4:155488770 (GRCh37)
Canonical SPDI:: NC_000004.12:154567617:C:T
Gene:: FGB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.154567618C>T, NC_000004.11:g.155488770C>T, NG_008833.1:g.9639C>T, NM_005141.5:c.516C>T, NM_005141.4:c.516C>T, NM_001382763.1:c.516C>T, NM_001382765.1:c.516C>T, NM_001382761.1:c.516C>T, NM_001382759.1:c.384C>T, NM_001382764.1:c.516C>T, NM_001184741.1:c.339C>T, NM_001382760.1:c.516C>T, NM_001382762.1:c.516C>T

Select item 14890325272.

rs1489032527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154568430 (GRCh38)
4:155489582 (GRCh37)
Canonical SPDI:: NC_000004.12:154568429:C:T
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154568430C>T, NC_000004.11:g.155489582C>T, NG_008833.1:g.10451C>T, NM_005141.5:c.768C>T, NM_005141.4:c.768C>T, NM_001382763.1:c.768C>T, NM_001382765.1:c.768C>T, NM_001382761.1:c.768C>T, NM_001382759.1:c.636C>T, NM_001382764.1:c.768C>T, NM_001184741.1:c.591C>T, NM_001382760.1:c.768C>T

Select item 14879127513.

rs1487912751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:154569567 (GRCh38)
4:155490719 (GRCh37)
Canonical SPDI:: NC_000004.12:154569566:A:G
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154569567A>G, NC_000004.11:g.155490719A>G, NG_008833.1:g.11588A>G, NM_005141.5:c.1012A>G, NM_005141.4:c.1012A>G, NM_001382763.1:c.1003A>G, NM_001382765.1:c.1012A>G, NM_001382761.1:c.1012A>G, NM_001382759.1:c.880A>G, NM_001382764.1:c.1012A>G, NM_001184741.1:c.835A>G, NM_001382760.1:c.1012A>G, NP_005132.2:p.Thr338Ala, NP_001369692.1:p.Thr335Ala, NP_001369694.1:p.Thr338Ala, NP_001369690.1:p.Thr338Ala, NP_001369688.1:p.Thr294Ala, NP_001369693.1:p.Thr338Ala, NP_001171670.1:p.Thr279Ala, NP_001369689.1:p.Thr338Ala

Select item 14839176784.

rs1483917678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:154567797 (GRCh38)
4:155488949 (GRCh37)
Canonical SPDI:: NC_000004.12:154567796:A:G
Gene:: FGB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154567797A>G, NC_000004.11:g.155488949A>G, NG_008833.1:g.9818A>G, NM_005141.5:c.695A>G, NM_005141.4:c.695A>G, NM_001382763.1:c.695A>G, NM_001382765.1:c.695A>G, NM_001382761.1:c.695A>G, NM_001382759.1:c.563A>G, NM_001382764.1:c.695A>G, NM_001184741.1:c.518A>G, NM_001382760.1:c.695A>G, NM_001382762.1:c.695A>G, NP_005132.2:p.Asn232Ser, NP_001369692.1:p.Asn232Ser, NP_001369694.1:p.Asn232Ser, NP_001369690.1:p.Asn232Ser, NP_001369688.1:p.Asn188Ser, NP_001369693.1:p.Asn232Ser, NP_001171670.1:p.Asn173Ser, NP_001369689.1:p.Asn232Ser, NP_001369691.1:p.Asn232Ser

Select item 14824500975.

rs1482450097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:154570548 (GRCh38)
4:155491700 (GRCh37)
Canonical SPDI:: NC_000004.12:154570547:G:C
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.154570548G>C, NC_000004.11:g.155491700G>C, NG_008833.1:g.12569G>C, NM_005141.5:c.1374G>C, NM_005141.4:c.1374G>C, NM_001382763.1:c.1365G>C, NM_001382765.1:c.1350G>C, NM_001382761.1:c.*39G>C, NM_001382759.1:c.1242G>C, NM_001382764.1:c.*148G>C, NM_001184741.1:c.1197G>C, NM_001382762.1:c.1074G>C, NP_005132.2:p.Lys458Asn, NP_001369692.1:p.Lys455Asn, NP_001369694.1:p.Lys450Asn, NP_001369688.1:p.Lys414Asn, NP_001171670.1:p.Lys399Asn, NP_001369691.1:p.Lys358Asn

Select item 14788096826.

rs1478809682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:154568444 (GRCh38)
4:155489596 (GRCh37)
Canonical SPDI:: NC_000004.12:154568443:G:C,NC_000004.12:154568443:G:T
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.001638/3 (Korea1K)
HGVS:: NC_000004.12:g.154568444G>C, NC_000004.12:g.154568444G>T, NC_000004.11:g.155489596G>C, NC_000004.11:g.155489596G>T, NG_008833.1:g.10465G>C, NG_008833.1:g.10465G>T, NM_005141.5:c.782G>C, NM_005141.5:c.782G>T, NM_005141.4:c.782G>C, NM_005141.4:c.782G>T, NM_001382763.1:c.782G>C, NM_001382763.1:c.782G>T, NM_001382765.1:c.782G>C, NM_001382765.1:c.782G>T, NM_001382761.1:c.782G>C, NM_001382761.1:c.782G>T, NM_001382759.1:c.650G>C, NM_001382759.1:c.650G>T, NM_001382764.1:c.782G>C, NM_001382764.1:c.782G>T, NM_001184741.1:c.605G>C, NM_001184741.1:c.605G>T, NM_001382760.1:c.782G>C, NM_001382760.1:c.782G>T, NP_005132.2:p.Ser261Thr, NP_005132.2:p.Ser261Ile, NP_001369692.1:p.Ser261Thr, NP_001369692.1:p.Ser261Ile, NP_001369694.1:p.Ser261Thr, NP_001369694.1:p.Ser261Ile, NP_001369690.1:p.Ser261Thr, NP_001369690.1:p.Ser261Ile, NP_001369688.1:p.Ser217Thr, NP_001369688.1:p.Ser217Ile, NP_001369693.1:p.Ser261Thr, NP_001369693.1:p.Ser261Ile, NP_001171670.1:p.Ser202Thr, NP_001171670.1:p.Ser202Ile, NP_001369689.1:p.Ser261Thr, NP_001369689.1:p.Ser261Ile

Select item 14778315067.

rs1477831506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:154567643 (GRCh38)
4:155488795 (GRCh37)
Canonical SPDI:: NC_000004.12:154567642:T:C
Gene:: FGB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154567643T>C, NC_000004.11:g.155488795T>C, NG_008833.1:g.9664T>C, NM_005141.5:c.541T>C, NM_005141.4:c.541T>C, NM_001382763.1:c.541T>C, NM_001382765.1:c.541T>C, NM_001382761.1:c.541T>C, NM_001382759.1:c.409T>C, NM_001382764.1:c.541T>C, NM_001184741.1:c.364T>C, NM_001382760.1:c.541T>C, NM_001382762.1:c.541T>C

Select item 14698894478.

rs1469889447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154565843 (GRCh38)
4:155486995 (GRCh37)
Canonical SPDI:: NC_000004.12:154565842:C:T
Gene:: FGB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.154565843C>T, NC_000004.11:g.155486995C>T, NG_008833.1:g.7864C>T, NM_005141.5:c.150C>T, NM_005141.4:c.150C>T, NM_001382763.1:c.150C>T, NM_001382765.1:c.150C>T, NM_001382761.1:c.150C>T, NM_001382759.1:c.150C>T, NM_001382764.1:c.150C>T, NM_001184741.1:c.150C>T, NM_001382760.1:c.150C>T, NM_001382762.1:c.150C>T

Select item 14660353819.

rs1466035381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:154569681 (GRCh38)
4:155490833 (GRCh37)
Canonical SPDI:: NC_000004.12:154569680:A:G
Gene:: FGB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.154569681A>G, NC_000004.11:g.155490833A>G, NG_008833.1:g.11702A>G, NM_005141.5:c.1126A>G, NM_005141.4:c.1126A>G, NM_001382763.1:c.1117A>G, NM_001382765.1:c.1126A>G, NM_001382761.1:c.1126A>G, NM_001382759.1:c.994A>G, NM_001184741.1:c.949A>G, NM_001382760.1:c.1126A>G, NM_001382762.1:c.826A>G, NP_005132.2:p.Arg376Gly, NP_001369692.1:p.Arg373Gly, NP_001369694.1:p.Arg376Gly, NP_001369690.1:p.Arg376Gly, NP_001369688.1:p.Arg332Gly, NP_001171670.1:p.Arg317Gly, NP_001369689.1:p.Arg376Gly, NP_001369691.1:p.Arg276Gly

Select item 146564044910.

rs1465640449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:154563082 (GRCh38)
4:155484234 (GRCh37)
Canonical SPDI:: NC_000004.12:154563081:C:A,NC_000004.12:154563081:C:T
Gene:: FGB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154563082C>A, NC_000004.12:g.154563082C>T, NC_000004.11:g.155484234C>A, NC_000004.11:g.155484234C>T, NG_008833.1:g.5103C>A, NG_008833.1:g.5103C>T, NM_005141.5:c.64C>A, NM_005141.5:c.64C>T, NM_005141.4:c.64C>A, NM_005141.4:c.64C>T, NM_001382763.1:c.64C>A, NM_001382763.1:c.64C>T, NM_001382765.1:c.64C>A, NM_001382765.1:c.64C>T, NM_001382761.1:c.64C>A, NM_001382761.1:c.64C>T, NM_001382759.1:c.64C>A, NM_001382759.1:c.64C>T, NM_001382764.1:c.64C>A, NM_001382764.1:c.64C>T, NM_001184741.1:c.64C>A, NM_001184741.1:c.64C>T, NM_001382760.1:c.64C>A, NM_001382760.1:c.64C>T, NM_001382762.1:c.64C>A, NM_001382762.1:c.64C>T, NP_005132.2:p.Leu22Ile, NP_001369692.1:p.Leu22Ile, NP_001369694.1:p.Leu22Ile, NP_001369690.1:p.Leu22Ile, NP_001369688.1:p.Leu22Ile, NP_001369693.1:p.Leu22Ile, NP_001171670.1:p.Leu22Ile, NP_001369689.1:p.Leu22Ile, NP_001369691.1:p.Leu22Ile

Select item 146230096111.

rs1462300961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:154569714 (GRCh38)
4:155490866 (GRCh37)
Canonical SPDI:: NC_000004.12:154569713:G:A,NC_000004.12:154569713:G:T
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154569714G>A, NC_000004.12:g.154569714G>T, NC_000004.11:g.155490866G>A, NC_000004.11:g.155490866G>T, NG_008833.1:g.11735G>A, NG_008833.1:g.11735G>T, NM_005141.5:c.1159G>A, NM_005141.5:c.1159G>T, NM_005141.4:c.1159G>A, NM_005141.4:c.1159G>T, NM_001382763.1:c.1150G>A, NM_001382763.1:c.1150G>T, NM_001382765.1:c.1159G>A, NM_001382765.1:c.1159G>T, NM_001382761.1:c.1159G>A, NM_001382761.1:c.1159G>T, NM_001382759.1:c.1027G>A, NM_001382759.1:c.1027G>T, NM_001184741.1:c.982G>A, NM_001184741.1:c.982G>T, NM_001382760.1:c.1159G>A, NM_001382760.1:c.1159G>T, NM_001382762.1:c.859G>A, NM_001382762.1:c.859G>T, NP_005132.2:p.Ala387Thr, NP_005132.2:p.Ala387Ser, NP_001369692.1:p.Ala384Thr, NP_001369692.1:p.Ala384Ser, NP_001369694.1:p.Ala387Thr, NP_001369694.1:p.Ala387Ser, NP_001369690.1:p.Ala387Thr, NP_001369690.1:p.Ala387Ser, NP_001369688.1:p.Ala343Thr, NP_001369688.1:p.Ala343Ser, NP_001171670.1:p.Ala328Thr, NP_001171670.1:p.Ala328Ser, NP_001369689.1:p.Ala387Thr, NP_001369689.1:p.Ala387Ser, NP_001369691.1:p.Ala287Thr, NP_001369691.1:p.Ala287Ser

Select item 146133067612.

rs1461330676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:154563069 (GRCh38)
4:155484221 (GRCh37)
Canonical SPDI:: NC_000004.12:154563068:T:C
Gene:: FGB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.154563069T>C, NC_000004.11:g.155484221T>C, NG_008833.1:g.5090T>C, NM_005141.5:c.51T>C, NM_005141.4:c.51T>C, NM_001382763.1:c.51T>C, NM_001382765.1:c.51T>C, NM_001382761.1:c.51T>C, NM_001382759.1:c.51T>C, NM_001382764.1:c.51T>C, NM_001184741.1:c.51T>C, NM_001382760.1:c.51T>C, NM_001382762.1:c.51T>C

Select item 146074951613.

rs1460749516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:154567600 (GRCh38)
4:155488752 (GRCh37)
Canonical SPDI:: NC_000004.12:154567599:A:G
Gene:: FGB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154567600A>G, NC_000004.11:g.155488752A>G, NG_008833.1:g.9621A>G, NM_005141.5:c.498A>G, NM_005141.4:c.498A>G, NM_001382763.1:c.498A>G, NM_001382765.1:c.498A>G, NM_001382761.1:c.498A>G, NM_001382759.1:c.366A>G, NM_001382764.1:c.498A>G, NM_001184741.1:c.321A>G, NM_001382760.1:c.498A>G, NM_001382762.1:c.498A>G

Select item 145798309814.

rs1457983098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:154568485 (GRCh38)
4:155489637 (GRCh37)
Canonical SPDI:: NC_000004.12:154568484:G:A
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154568485G>A, NC_000004.11:g.155489637G>A, NG_008833.1:g.10506G>A, NM_005141.5:c.823G>A, NM_005141.4:c.823G>A, NM_001382763.1:c.823G>A, NM_001382765.1:c.823G>A, NM_001382761.1:c.823G>A, NM_001382759.1:c.691G>A, NM_001382764.1:c.823G>A, NM_001184741.1:c.646G>A, NM_001382760.1:c.823G>A, NP_005132.2:p.Glu275Lys, NP_001369692.1:p.Glu275Lys, NP_001369694.1:p.Glu275Lys, NP_001369690.1:p.Glu275Lys, NP_001369688.1:p.Glu231Lys, NP_001369693.1:p.Glu275Lys, NP_001171670.1:p.Glu216Lys, NP_001369689.1:p.Glu275Lys

Select item 145666915515.

rs1456669155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:154569724 (GRCh38)
4:155490876 (GRCh37)
Canonical SPDI:: NC_000004.12:154569723:T:C
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154569724T>C, NC_000004.11:g.155490876T>C, NG_008833.1:g.11745T>C, NM_005141.5:c.1169T>C, NM_005141.4:c.1169T>C, NM_001382763.1:c.1160T>C, NM_001382765.1:c.1169T>C, NM_001382761.1:c.1169T>C, NM_001382759.1:c.1037T>C, NM_001184741.1:c.992T>C, NM_001382760.1:c.1169T>C, NM_001382762.1:c.869T>C, NP_005132.2:p.Leu390Pro, NP_001369692.1:p.Leu387Pro, NP_001369694.1:p.Leu390Pro, NP_001369690.1:p.Leu390Pro, NP_001369688.1:p.Leu346Pro, NP_001171670.1:p.Leu331Pro, NP_001369689.1:p.Leu390Pro, NP_001369691.1:p.Leu290Pro

Select item 145342302816.

rs1453423028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:154565889 (GRCh38)
4:155487041 (GRCh37)
Canonical SPDI:: NC_000004.12:154565888:A:C,NC_000004.12:154565888:A:G
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.154565889A>C, NC_000004.12:g.154565889A>G, NC_000004.11:g.155487041A>C, NC_000004.11:g.155487041A>G, NG_008833.1:g.7910A>C, NG_008833.1:g.7910A>G, NM_005141.5:c.196A>C, NM_005141.5:c.196A>G, NM_005141.4:c.196A>C, NM_005141.4:c.196A>G, NM_001382763.1:c.196A>C, NM_001382763.1:c.196A>G, NM_001382765.1:c.196A>C, NM_001382765.1:c.196A>G, NM_001382761.1:c.196A>C, NM_001382761.1:c.196A>G, NM_001382759.1:c.196A>C, NM_001382759.1:c.196A>G, NM_001382764.1:c.196A>C, NM_001382764.1:c.196A>G, NM_001382760.1:c.196A>C, NM_001382760.1:c.196A>G, NM_001382762.1:c.196A>C, NM_001382762.1:c.196A>G, NP_005132.2:p.Ile66Leu, NP_005132.2:p.Ile66Val, NP_001369692.1:p.Ile66Leu, NP_001369692.1:p.Ile66Val, NP_001369694.1:p.Ile66Leu, NP_001369694.1:p.Ile66Val, NP_001369690.1:p.Ile66Leu, NP_001369690.1:p.Ile66Val, NP_001369688.1:p.Ile66Leu, NP_001369688.1:p.Ile66Val, NP_001369693.1:p.Ile66Leu, NP_001369693.1:p.Ile66Val, NP_001369689.1:p.Ile66Leu, NP_001369689.1:p.Ile66Val, NP_001369691.1:p.Ile66Leu, NP_001369691.1:p.Ile66Val

Select item 145061063217.

rs1450610632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:154567719 (GRCh38)
4:155488871 (GRCh37)
Canonical SPDI:: NC_000004.12:154567718:G:C
Gene:: FGB (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.154567719G>C, NC_000004.11:g.155488871G>C, NG_008833.1:g.9740G>C, NM_005141.5:c.617G>C, NM_005141.4:c.617G>C, NM_001382763.1:c.617G>C, NM_001382765.1:c.617G>C, NM_001382761.1:c.617G>C, NM_001382759.1:c.485G>C, NM_001382764.1:c.617G>C, NM_001184741.1:c.440G>C, NM_001382760.1:c.617G>C, NM_001382762.1:c.617G>C, NP_005132.2:p.Arg206Thr, NP_001369692.1:p.Arg206Thr, NP_001369694.1:p.Arg206Thr, NP_001369690.1:p.Arg206Thr, NP_001369688.1:p.Arg162Thr, NP_001369693.1:p.Arg206Thr, NP_001171670.1:p.Arg147Thr, NP_001369689.1:p.Arg206Thr, NP_001369691.1:p.Arg206Thr

Select item 144775594918.

rs1447755949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:154569644 (GRCh38)
4:155490796 (GRCh37)
Canonical SPDI:: NC_000004.12:154569643:T:C,NC_000004.12:154569643:T:G
Gene:: FGB (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.003821/7 (Korea1K)
HGVS:: NC_000004.12:g.154569644T>C, NC_000004.12:g.154569644T>G, NC_000004.11:g.155490796T>C, NC_000004.11:g.155490796T>G, NG_008833.1:g.11665T>C, NG_008833.1:g.11665T>G, NM_005141.5:c.1089T>C, NM_005141.5:c.1089T>G, NM_005141.4:c.1089T>C, NM_005141.4:c.1089T>G, NM_001382763.1:c.1080T>C, NM_001382763.1:c.1080T>G, NM_001382765.1:c.1089T>C, NM_001382765.1:c.1089T>G, NM_001382761.1:c.1089T>C, NM_001382761.1:c.1089T>G, NM_001382759.1:c.957T>C, NM_001382759.1:c.957T>G, NM_001184741.1:c.912T>C, NM_001184741.1:c.912T>G, NM_001382760.1:c.1089T>C, NM_001382760.1:c.1089T>G, NM_001382762.1:c.789T>C, NM_001382762.1:c.789T>G, NP_005132.2:p.Asn363Lys, NP_001369692.1:p.Asn360Lys, NP_001369694.1:p.Asn363Lys, NP_001369690.1:p.Asn363Lys, NP_001369688.1:p.Asn319Lys, NP_001171670.1:p.Asn304Lys, NP_001369689.1:p.Asn363Lys, NP_001369691.1:p.Asn263Lys

Select item 144693101919.

rs1446931019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:154563027 (GRCh38)
4:155484179 (GRCh37)
Canonical SPDI:: NC_000004.12:154563026:G:C
Gene:: FGB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.154563027G>C, NC_000004.11:g.155484179G>C, NG_008833.1:g.5048G>C, NM_005141.5:c.9G>C, NM_005141.4:c.9G>C, NM_001382763.1:c.9G>C, NM_001382765.1:c.9G>C, NM_001382761.1:c.9G>C, NM_001382759.1:c.9G>C, NM_001382764.1:c.9G>C, NM_001184741.1:c.9G>C, NM_001382760.1:c.9G>C, NM_001382762.1:c.9G>C, NP_005132.2:p.Arg3Ser, NP_001369692.1:p.Arg3Ser, NP_001369694.1:p.Arg3Ser, NP_001369690.1:p.Arg3Ser, NP_001369688.1:p.Arg3Ser, NP_001369693.1:p.Arg3Ser, NP_001171670.1:p.Arg3Ser, NP_001369689.1:p.Arg3Ser, NP_001369691.1:p.Arg3Ser

Select item 144567127420.

rs1445671274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:154570623 (GRCh38)
4:155491775 (GRCh37)
Canonical SPDI:: NC_000004.12:154570622:G:A
Gene:: FGB (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.154570623G>A, NC_000004.11:g.155491775G>A, NG_008833.1:g.12644G>A, NM_005141.5:c.1449G>A, NM_005141.4:c.1449G>A, NM_001382763.1:c.1440G>A, NM_001382765.1:c.1425G>A, NM_001382761.1:c.*114G>A, NM_001382759.1:c.1317G>A, NM_001382764.1:c.*223G>A, NM_001184741.1:c.1272G>A, NM_001382760.1:c.1251G>A, NM_001382762.1:c.1149G>A

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