SNP Links for Protein (Select 767916292) - SNP

Links from Protein

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Select item 14904147011.

rs1490414701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:222624475 (GRCh38)
2:223489194 (GRCh37)
Canonical SPDI:: NC_000002.12:222624474:T:C
Gene:: FARSB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222624475T>C, NC_000002.11:g.223489194T>C, NM_005687.5:c.967A>G, NM_005687.4:c.967A>G, NM_005687.3:c.967A>G, XM_006712169.3:c.670A>G, XM_006712169.2:c.670A>G, XM_006712169.1:c.670A>G, XM_011510466.3:c.670A>G, XM_011510466.2:c.670A>G, XM_011510466.1:c.670A>G, NR_130154.2:n.1182A>G, NR_130154.1:n.1445A>G, NP_005678.3:p.Thr323Ala, XP_006712232.1:p.Thr224Ala, XP_011508768.1:p.Thr224Ala

Select item 14858806292.

rs1485880629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:222631628 (GRCh38)
2:223496347 (GRCh37)
Canonical SPDI:: NC_000002.12:222631627:T:C
Gene:: FARSB (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222631628T>C, NC_000002.11:g.223496347T>C, NM_005687.5:c.762A>G, NM_005687.4:c.762A>G, NM_005687.3:c.762A>G, XM_006712169.3:c.465A>G, XM_006712169.2:c.465A>G, XM_006712169.1:c.465A>G, XM_011510466.3:c.465A>G, XM_011510466.2:c.465A>G, XM_011510466.1:c.465A>G, NR_130154.2:n.977A>G, NR_130154.1:n.1240A>G

Select item 14843068603.

rs1484306860 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:222639679 (GRCh38)
2:223504398 (GRCh37)
Canonical SPDI:: NC_000002.12:222639678:GG:G
Gene:: FARSB (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222639680del, NC_000002.11:g.223504399del, NM_005687.5:c.356del, NM_005687.4:c.356del, NM_005687.3:c.356del, XM_006712169.3:c.59del, XM_006712169.2:c.59del, XM_006712169.1:c.59del, XM_011510466.3:c.59del, XM_011510466.2:c.59del, XM_011510466.1:c.59del, NR_130154.2:n.571del, NR_130154.1:n.834del, NP_005678.3:p.Pro119fs, XP_006712232.1:p.Pro20fs, XP_011508768.1:p.Pro20fs

Select item 14839264734.

rs1483926473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222624297 (GRCh38)
2:223489016 (GRCh37)
Canonical SPDI:: NC_000002.12:222624296:G:A
Gene:: FARSB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222624297G>A, NC_000002.11:g.223489016G>A, NM_005687.5:c.1145C>T, NM_005687.4:c.1145C>T, NM_005687.3:c.1145C>T, XM_006712169.3:c.848C>T, XM_006712169.2:c.848C>T, XM_006712169.1:c.848C>T, XM_011510466.3:c.848C>T, XM_011510466.2:c.848C>T, XM_011510466.1:c.848C>T, NR_130154.2:n.1360C>T, NR_130154.1:n.1623C>T, NP_005678.3:p.Pro382Leu, XP_006712232.1:p.Pro283Leu, XP_011508768.1:p.Pro283Leu

Select item 14816715185.

rs1481671518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:222571971 (GRCh38)
2:223436690 (GRCh37)
Canonical SPDI:: NC_000002.12:222571970:C:A
Gene:: FARSB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.222571971C>A, NC_000002.11:g.223436690C>A, NM_005687.5:c.1670G>T, NM_005687.4:c.1670G>T, NM_005687.3:c.1670G>T, XM_006712169.3:c.1373G>T, XM_006712169.2:c.1373G>T, XM_006712169.1:c.1373G>T, XM_011510466.3:c.1373G>T, XM_011510466.2:c.1373G>T, XM_011510466.1:c.1373G>T, NR_130154.2:n.1885G>T, NR_130154.1:n.2148G>T, NP_005678.3:p.Ser557Ile, XP_006712232.1:p.Ser458Ile, XP_011508768.1:p.Ser458Ile

Select item 14783873386.

rs1478387338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:222628880 (GRCh38)
2:223493599 (GRCh37)
Canonical SPDI:: NC_000002.12:222628879:G:C
Gene:: FARSB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.222628880G>C, NC_000002.11:g.223493599G>C, NM_005687.5:c.857C>G, NM_005687.4:c.857C>G, NM_005687.3:c.857C>G, XM_006712169.3:c.560C>G, XM_006712169.2:c.560C>G, XM_006712169.1:c.560C>G, XM_011510466.3:c.560C>G, XM_011510466.2:c.560C>G, XM_011510466.1:c.560C>G, NR_130154.2:n.1072C>G, NR_130154.1:n.1335C>G, NP_005678.3:p.Ala286Gly, XP_006712232.1:p.Ala187Gly, XP_011508768.1:p.Ala187Gly

Select item 14767240477.

rs1476724047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:222639617 (GRCh38)
2:223504336 (GRCh37)
Canonical SPDI:: NC_000002.12:222639616:T:A,NC_000002.12:222639616:T:C
Gene:: FARSB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.222639617T>A, NC_000002.12:g.222639617T>C, NC_000002.11:g.223504336T>A, NC_000002.11:g.223504336T>C, NM_005687.5:c.418A>T, NM_005687.5:c.418A>G, NM_005687.4:c.418A>T, NM_005687.4:c.418A>G, NM_005687.3:c.418A>T, NM_005687.3:c.418A>G, XM_006712169.3:c.121A>T, XM_006712169.3:c.121A>G, XM_006712169.2:c.121A>T, XM_006712169.2:c.121A>G, XM_006712169.1:c.121A>T, XM_006712169.1:c.121A>G, XM_011510466.3:c.121A>T, XM_011510466.3:c.121A>G, XM_011510466.2:c.121A>T, XM_011510466.2:c.121A>G, XM_011510466.1:c.121A>T, XM_011510466.1:c.121A>G, NR_130154.2:n.633A>T, NR_130154.2:n.633A>G, NR_130154.1:n.896A>T, NR_130154.1:n.896A>G, NP_005678.3:p.Ile140Phe, NP_005678.3:p.Ile140Val, XP_006712232.1:p.Ile41Phe, XP_006712232.1:p.Ile41Val, XP_011508768.1:p.Ile41Phe, XP_011508768.1:p.Ile41Val

Select item 14714917998.

rs1471491799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:222624301 (GRCh38)
2:223489020 (GRCh37)
Canonical SPDI:: NC_000002.12:222624300:G:A,NC_000002.12:222624300:G:C
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222624301G>A, NC_000002.12:g.222624301G>C, NC_000002.11:g.223489020G>A, NC_000002.11:g.223489020G>C, NM_005687.5:c.1141C>T, NM_005687.5:c.1141C>G, NM_005687.4:c.1141C>T, NM_005687.4:c.1141C>G, NM_005687.3:c.1141C>T, NM_005687.3:c.1141C>G, XM_006712169.3:c.844C>T, XM_006712169.3:c.844C>G, XM_006712169.2:c.844C>T, XM_006712169.2:c.844C>G, XM_006712169.1:c.844C>T, XM_006712169.1:c.844C>G, XM_011510466.3:c.844C>T, XM_011510466.3:c.844C>G, XM_011510466.2:c.844C>T, XM_011510466.2:c.844C>G, XM_011510466.1:c.844C>T, XM_011510466.1:c.844C>G, NR_130154.2:n.1356C>T, NR_130154.2:n.1356C>G, NR_130154.1:n.1619C>T, NR_130154.1:n.1619C>G, NP_005678.3:p.Leu381Phe, NP_005678.3:p.Leu381Val, XP_006712232.1:p.Leu282Phe, XP_006712232.1:p.Leu282Val, XP_011508768.1:p.Leu282Phe, XP_011508768.1:p.Leu282Val

Select item 14680564759.

rs1468056475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:222633201 (GRCh38)
2:223497920 (GRCh37)
Canonical SPDI:: NC_000002.12:222633200:T:C
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222633201T>C, NC_000002.11:g.223497920T>C, NM_005687.5:c.713A>G, NM_005687.4:c.713A>G, NM_005687.3:c.713A>G, XM_006712169.3:c.416A>G, XM_006712169.2:c.416A>G, XM_006712169.1:c.416A>G, XM_011510466.3:c.416A>G, XM_011510466.2:c.416A>G, XM_011510466.1:c.416A>G, NR_130154.2:n.928A>G, NR_130154.1:n.1191A>G, NP_005678.3:p.Asn238Ser, XP_006712232.1:p.Asn139Ser, XP_011508768.1:p.Asn139Ser

Select item 146664202510.

rs1466642025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:222631635 (GRCh38)
2:223496354 (GRCh37)
Canonical SPDI:: NC_000002.12:222631634:A:G
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222631635A>G, NC_000002.11:g.223496354A>G, NM_005687.5:c.755T>C, NM_005687.4:c.755T>C, NM_005687.3:c.755T>C, XM_006712169.3:c.458T>C, XM_006712169.2:c.458T>C, XM_006712169.1:c.458T>C, XM_011510466.3:c.458T>C, XM_011510466.2:c.458T>C, XM_011510466.1:c.458T>C, NR_130154.2:n.970T>C, NR_130154.1:n.1233T>C, NP_005678.3:p.Phe252Ser, XP_006712232.1:p.Phe153Ser, XP_011508768.1:p.Phe153Ser

Select item 146440395711.

rs1464403957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222633280 (GRCh38)
2:223497999 (GRCh37)
Canonical SPDI:: NC_000002.12:222633279:G:A
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.222633280G>A, NC_000002.11:g.223497999G>A, NM_005687.5:c.634C>T, NM_005687.4:c.634C>T, NM_005687.3:c.634C>T, XM_006712169.3:c.337C>T, XM_006712169.2:c.337C>T, XM_006712169.1:c.337C>T, XM_011510466.3:c.337C>T, XM_011510466.2:c.337C>T, XM_011510466.1:c.337C>T, NR_130154.2:n.849C>T, NR_130154.1:n.1112C>T, NP_005678.3:p.His212Tyr, XP_006712232.1:p.His113Tyr, XP_011508768.1:p.His113Tyr

Select item 146360752012.

rs1463607520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:222624747 (GRCh38)
2:223489466 (GRCh37)
Canonical SPDI:: NC_000002.12:222624746:C:T
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222624747C>T, NC_000002.11:g.223489466C>T, NM_005687.5:c.929G>A, NM_005687.4:c.929G>A, NM_005687.3:c.929G>A, XM_006712169.3:c.632G>A, XM_006712169.2:c.632G>A, XM_006712169.1:c.632G>A, XM_011510466.3:c.632G>A, XM_011510466.2:c.632G>A, XM_011510466.1:c.632G>A, NR_130154.2:n.1144G>A, NR_130154.1:n.1407G>A, NP_005678.3:p.Arg310Lys, XP_006712232.1:p.Arg211Lys, XP_011508768.1:p.Arg211Lys

Select item 146356324613.

rs1463563246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:222634454 (GRCh38)
2:223499173 (GRCh37)
Canonical SPDI:: NC_000002.12:222634453:G:T
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.004918/9 (Korea1K)
HGVS:: NC_000002.12:g.222634454G>T, NC_000002.11:g.223499173G>T, NM_005687.5:c.543C>A, NM_005687.4:c.543C>A, NM_005687.3:c.543C>A, XM_006712169.3:c.246C>A, XM_006712169.2:c.246C>A, XM_006712169.1:c.246C>A, XM_011510466.3:c.246C>A, XM_011510466.2:c.246C>A, XM_011510466.1:c.246C>A, NR_130154.2:n.758C>A, NR_130154.1:n.1021C>A

Select item 146208503914.

rs1462085039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:222600067 (GRCh38)
2:223464787 (GRCh37)
Canonical SPDI:: NC_000002.12:222600067:TTTTTT:TTTTTTT
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.222600073dup, NC_000002.11:g.223464792dup, NM_005687.5:c.1478dup, NM_005687.4:c.1478dup, NM_005687.3:c.1478dup, XM_006712169.3:c.1181dup, XM_006712169.2:c.1181dup, XM_006712169.1:c.1181dup, XM_011510466.3:c.1181dup, XM_011510466.2:c.1181dup, XM_011510466.1:c.1181dup, NR_130154.2:n.1693dup, NR_130154.1:n.1956dup, NP_005678.3:p.Asn493fs, XP_006712232.1:p.Asn394fs, XP_011508768.1:p.Asn394fs

Select item 145477498715.

rs1454774987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222600050 (GRCh38)
2:223464769 (GRCh37)
Canonical SPDI:: NC_000002.12:222600049:G:A
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.222600050G>A, NC_000002.11:g.223464769G>A, NM_005687.5:c.1496C>T, NM_005687.4:c.1496C>T, NM_005687.3:c.1496C>T, XM_006712169.3:c.1199C>T, XM_006712169.2:c.1199C>T, XM_006712169.1:c.1199C>T, XM_011510466.3:c.1199C>T, XM_011510466.2:c.1199C>T, XM_011510466.1:c.1199C>T, NR_130154.2:n.1711C>T, NR_130154.1:n.1974C>T, NP_005678.3:p.Ala499Val, XP_006712232.1:p.Ala400Val, XP_011508768.1:p.Ala400Val

Select item 145198492516.

rs1451984925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:222613916 (GRCh38)
2:223478635 (GRCh37)
Canonical SPDI:: NC_000002.12:222613915:T:A
Gene:: FARSB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222613916T>A, NC_000002.11:g.223478635T>A, NM_005687.5:c.1357A>T, NM_005687.4:c.1357A>T, NM_005687.3:c.1357A>T, XM_006712169.3:c.1060A>T, XM_006712169.2:c.1060A>T, XM_006712169.1:c.1060A>T, XM_011510466.3:c.1060A>T, XM_011510466.2:c.1060A>T, XM_011510466.1:c.1060A>T, NR_130154.2:n.1572A>T, NR_130154.1:n.1835A>T, NP_005678.3:p.Thr453Ser, XP_006712232.1:p.Thr354Ser, XP_011508768.1:p.Thr354Ser

Select item 145063571417.

rs1450635714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222623687 (GRCh38)
2:223488406 (GRCh37)
Canonical SPDI:: NC_000002.12:222623686:G:A
Gene:: FARSB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222623687G>A, NC_000002.11:g.223488406G>A, NM_005687.5:c.1214C>T, NM_005687.4:c.1214C>T, NM_005687.3:c.1214C>T, XM_006712169.3:c.917C>T, XM_006712169.2:c.917C>T, XM_006712169.1:c.917C>T, XM_011510466.3:c.917C>T, XM_011510466.2:c.917C>T, XM_011510466.1:c.917C>T, NR_130154.2:n.1429C>T, NR_130154.1:n.1692C>T, NP_005678.3:p.Ala405Val, XP_006712232.1:p.Ala306Val, XP_011508768.1:p.Ala306Val

Select item 144949750218.

rs1449497502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:222639683 (GRCh38)
2:223504402 (GRCh37)
Canonical SPDI:: NC_000002.12:222639682:G:A,NC_000002.12:222639682:G:T
Gene:: FARSB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222639683G>A, NC_000002.12:g.222639683G>T, NC_000002.11:g.223504402G>A, NC_000002.11:g.223504402G>T, NM_005687.5:c.352C>T, NM_005687.5:c.352C>A, NM_005687.4:c.352C>T, NM_005687.4:c.352C>A, NM_005687.3:c.352C>T, NM_005687.3:c.352C>A, XM_006712169.3:c.55C>T, XM_006712169.3:c.55C>A, XM_006712169.2:c.55C>T, XM_006712169.2:c.55C>A, XM_006712169.1:c.55C>T, XM_006712169.1:c.55C>A, XM_011510466.3:c.55C>T, XM_011510466.3:c.55C>A, XM_011510466.2:c.55C>T, XM_011510466.2:c.55C>A, XM_011510466.1:c.55C>T, XM_011510466.1:c.55C>A, NR_130154.2:n.567C>T, NR_130154.2:n.567C>A, NR_130154.1:n.830C>T, NR_130154.1:n.830C>A, NP_005678.3:p.Arg118Cys, NP_005678.3:p.Arg118Ser, XP_006712232.1:p.Arg19Cys, XP_006712232.1:p.Arg19Ser, XP_011508768.1:p.Arg19Cys, XP_011508768.1:p.Arg19Ser

Select item 144621316619.

rs1446213166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:222633301 (GRCh38)
2:223498020 (GRCh37)
Canonical SPDI:: NC_000002.12:222633300:T:G
Gene:: FARSB (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.222633301T>G, NC_000002.11:g.223498020T>G, NM_005687.5:c.613A>C, NM_005687.4:c.613A>C, NM_005687.3:c.613A>C, XM_006712169.3:c.316A>C, XM_006712169.2:c.316A>C, XM_006712169.1:c.316A>C, XM_011510466.3:c.316A>C, XM_011510466.2:c.316A>C, XM_011510466.1:c.316A>C, NR_130154.2:n.828A>C, NR_130154.1:n.1091A>C, NP_005678.3:p.Asn205His, XP_006712232.1:p.Asn106His, XP_011508768.1:p.Asn106His

Select item 144427748720.

rs1444277487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:222600043 (GRCh38)
2:223464762 (GRCh37)
Canonical SPDI:: NC_000002.12:222600042:A:C
Gene:: FARSB (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.222600043A>C, NC_000002.11:g.223464762A>C, NM_005687.5:c.1503T>G, NM_005687.4:c.1503T>G, NM_005687.3:c.1503T>G, XM_006712169.3:c.1206T>G, XM_006712169.2:c.1206T>G, XM_006712169.1:c.1206T>G, XM_011510466.3:c.1206T>G, XM_011510466.2:c.1206T>G, XM_011510466.1:c.1206T>G, NR_130154.2:n.1718T>G, NR_130154.1:n.1981T>G, NP_005678.3:p.Tyr501Ter, XP_006712232.1:p.Tyr402Ter, XP_011508768.1:p.Tyr402Ter

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