SNP Links for Protein (Select 24308336) - SNP

Links from Protein

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Select item 14874261451.

rs1487426145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:99349288 (GRCh38)
6:99797164 (GRCh37)
Canonical SPDI:: NC_000006.12:99349287:A:C
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.99349288A>C, NC_000006.11:g.99797164A>C, NG_051943.1:g.6023T>G, NM_032511.4:c.85T>G, NM_032511.3:c.85T>G, NM_032511.2:c.85T>G, XM_011536189.4:c.85T>G, XM_011536189.3:c.85T>G, XM_011536189.2:c.85T>G, XM_011536189.1:c.85T>G, NP_115900.1:p.Trp29Gly, XP_011534491.1:p.Trp29Gly

Select item 14865983212.

rs1486598321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:99323455 (GRCh38)
6:99771331 (GRCh37)
Canonical SPDI:: NC_000006.12:99323454:G:C
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.99323455G>C, NC_000006.11:g.99771331G>C, NG_051943.1:g.31856C>G, NM_032511.4:c.812C>G, NM_032511.3:c.812C>G, NM_032511.2:c.812C>G, NM_001346531.2:c.653C>G, NM_001346531.1:c.653C>G, NM_001346530.2:c.449C>G, NM_001346530.1:c.449C>G, NM_001346532.1:c.653C>G, NM_001346533.1:c.449C>G, XM_006715582.3:c.164C>G, XM_006715582.2:c.164C>G, XM_006715582.1:c.164C>G, NP_115900.1:p.Ala271Gly, NP_001333460.1:p.Ala218Gly, NP_001333459.1:p.Ala150Gly, NP_001333461.1:p.Ala218Gly, NP_001333462.1:p.Ala150Gly, XP_006715645.1:p.Ala55Gly

Select item 14865114883.

rs1486511488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99291734 (GRCh38)
6:99739610 (GRCh37)
Canonical SPDI:: NC_000006.12:99291733:G:A
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.99291734G>A, NC_000006.11:g.99739610G>A, NG_051943.1:g.63577C>T, NM_032511.4:c.910C>T, NM_032511.3:c.910C>T, NM_032511.2:c.910C>T, NM_001346531.2:c.751C>T, NM_001346531.1:c.751C>T, NM_001346530.2:c.547C>T, NM_001346530.1:c.547C>T, NR_144463.2:n.583C>T, NR_144463.1:n.837C>T, NM_001346532.1:c.751C>T, NM_001346533.1:c.547C>T, NR_144464.1:n.802C>T, XM_006715582.3:c.262C>T, XM_006715582.2:c.262C>T, XM_006715582.1:c.262C>T, NP_115900.1:p.Pro304Ser, NP_001333460.1:p.Pro251Ser, NP_001333459.1:p.Pro183Ser, NP_001333461.1:p.Pro251Ser, NP_001333462.1:p.Pro183Ser, XP_006715645.1:p.Pro88Ser

Select item 14854825674.

rs1485482567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99323623 (GRCh38)
6:99771499 (GRCh37)
Canonical SPDI:: NC_000006.12:99323622:C:T
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.99323623C>T, NC_000006.11:g.99771499C>T, NG_051943.1:g.31688G>A, NM_032511.4:c.644G>A, NM_032511.3:c.644G>A, NM_032511.2:c.644G>A, NM_001346531.2:c.485G>A, NM_001346531.1:c.485G>A, NM_001346530.2:c.281G>A, NM_001346530.1:c.281G>A, NM_001346532.1:c.485G>A, NM_001346533.1:c.281G>A, XM_011536189.4:c.*84G>A, XM_011536189.3:c.*84G>A, XM_011536189.2:c.*84G>A, XM_011536189.1:c.*84G>A, XM_006715582.3:c.-5G>A, XM_006715582.2:c.-5G>A, XM_006715582.1:c.-5G>A, NP_115900.1:p.Arg215Gln, NP_001333460.1:p.Arg162Gln, NP_001333459.1:p.Arg94Gln, NP_001333461.1:p.Arg162Gln, NP_001333462.1:p.Arg94Gln

Select item 14838598385.

rs1483859838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99281411 (GRCh38)
6:99729287 (GRCh37)
Canonical SPDI:: NC_000006.12:99281410:C:T
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99281411C>T, NC_000006.11:g.99729287C>T, NG_051943.1:g.73900G>A, NM_032511.4:c.983G>A, NM_032511.3:c.983G>A, NM_032511.2:c.983G>A, NM_001346531.2:c.824G>A, NM_001346531.1:c.824G>A, NM_001346530.2:c.620G>A, NM_001346530.1:c.620G>A, NR_144463.2:n.656G>A, NR_144463.1:n.910G>A, NM_001346532.1:c.824G>A, NM_001346533.1:c.620G>A, NR_144464.1:n.875G>A, XM_006715582.3:c.335G>A, XM_006715582.2:c.335G>A, XM_006715582.1:c.335G>A, NP_115900.1:p.Arg328Lys, NP_001333460.1:p.Arg275Lys, NP_001333459.1:p.Arg207Lys, NP_001333461.1:p.Arg275Lys, NP_001333462.1:p.Arg207Lys, XP_006715645.1:p.Arg112Lys

Select item 14705423396.

rs1470542339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:99281304 (GRCh38)
6:99729180 (GRCh37)
Canonical SPDI:: NC_000006.12:99281303:A:G
Gene:: FAXC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_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_000006.12:g.99281304A>G, NC_000006.11:g.99729180A>G, NG_051943.1:g.74007T>C, NM_032511.4:c.1090T>C, NM_032511.3:c.1090T>C, NM_032511.2:c.1090T>C, NM_001346531.2:c.931T>C, NM_001346531.1:c.931T>C, NM_001346530.2:c.727T>C, NM_001346530.1:c.727T>C, NR_144463.2:n.763T>C, NR_144463.1:n.1017T>C, NM_001346532.1:c.931T>C, NM_001346533.1:c.727T>C, NR_144464.1:n.982T>C, XM_006715582.3:c.442T>C, XM_006715582.2:c.442T>C, XM_006715582.1:c.442T>C, NP_115900.1:p.Tyr364His, NP_001333460.1:p.Tyr311His, NP_001333459.1:p.Tyr243His, NP_001333461.1:p.Tyr311His, NP_001333462.1:p.Tyr243His, XP_006715645.1:p.Tyr148His

Select item 14667096847.

rs1466709684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:99281323 (GRCh38)
6:99729199 (GRCh37)
Canonical SPDI:: NC_000006.12:99281322:C:G,NC_000006.12:99281322:C:T
Gene:: FAXC (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.99281323C>G, NC_000006.12:g.99281323C>T, NC_000006.11:g.99729199C>G, NC_000006.11:g.99729199C>T, NG_051943.1:g.73988G>C, NG_051943.1:g.73988G>A, NM_032511.4:c.1071G>C, NM_032511.4:c.1071G>A, NM_032511.3:c.1071G>C, NM_032511.3:c.1071G>A, NM_032511.2:c.1071G>C, NM_032511.2:c.1071G>A, NM_001346531.2:c.912G>C, NM_001346531.2:c.912G>A, NM_001346531.1:c.912G>C, NM_001346531.1:c.912G>A, NM_001346530.2:c.708G>C, NM_001346530.2:c.708G>A, NM_001346530.1:c.708G>C, NM_001346530.1:c.708G>A, NR_144463.2:n.744G>C, NR_144463.2:n.744G>A, NR_144463.1:n.998G>C, NR_144463.1:n.998G>A, NM_001346532.1:c.912G>C, NM_001346532.1:c.912G>A, NM_001346533.1:c.708G>C, NM_001346533.1:c.708G>A, NR_144464.1:n.963G>C, NR_144464.1:n.963G>A, XM_006715582.3:c.423G>C, XM_006715582.3:c.423G>A, XM_006715582.2:c.423G>C, XM_006715582.2:c.423G>A, XM_006715582.1:c.423G>C, XM_006715582.1:c.423G>A

Select item 14626219818.

rs1462621981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:99323486 (GRCh38)
6:99771362 (GRCh37)
Canonical SPDI:: NC_000006.12:99323485:T:C,NC_000006.12:99323485:T:G
Gene:: FAXC (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.00006/1 (TOMMO)
HGVS:: NC_000006.12:g.99323486T>C, NC_000006.12:g.99323486T>G, NC_000006.11:g.99771362T>C, NC_000006.11:g.99771362T>G, NG_051943.1:g.31825A>G, NG_051943.1:g.31825A>C, NM_032511.4:c.781A>G, NM_032511.4:c.781A>C, NM_032511.3:c.781A>G, NM_032511.3:c.781A>C, NM_032511.2:c.781A>G, NM_032511.2:c.781A>C, NM_001346531.2:c.622A>G, NM_001346531.2:c.622A>C, NM_001346531.1:c.622A>G, NM_001346531.1:c.622A>C, NM_001346530.2:c.418A>G, NM_001346530.2:c.418A>C, NM_001346530.1:c.418A>G, NM_001346530.1:c.418A>C, NM_001346532.1:c.622A>G, NM_001346532.1:c.622A>C, NM_001346533.1:c.418A>G, NM_001346533.1:c.418A>C, XM_006715582.3:c.133A>G, XM_006715582.3:c.133A>C, XM_006715582.2:c.133A>G, XM_006715582.2:c.133A>C, XM_006715582.1:c.133A>G, XM_006715582.1:c.133A>C, NP_115900.1:p.Met261Val, NP_115900.1:p.Met261Leu, NP_001333460.1:p.Met208Val, NP_001333460.1:p.Met208Leu, NP_001333459.1:p.Met140Val, NP_001333459.1:p.Met140Leu, NP_001333461.1:p.Met208Val, NP_001333461.1:p.Met208Leu, NP_001333462.1:p.Met140Val, NP_001333462.1:p.Met140Leu, XP_006715645.1:p.Met45Val, XP_006715645.1:p.Met45Leu

Select item 14567907179.

rs1456790717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99349319 (GRCh38)
6:99797195 (GRCh37)
Canonical SPDI:: NC_000006.12:99349318:G:A
Gene:: FAXC (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99349319G>A, NC_000006.11:g.99797195G>A, NG_051943.1:g.5992C>T, NM_032511.4:c.54C>T, NM_032511.3:c.54C>T, NM_032511.2:c.54C>T, XM_011536189.4:c.54C>T, XM_011536189.3:c.54C>T, XM_011536189.2:c.54C>T, XM_011536189.1:c.54C>T

Select item 145410371910.

rs1454103719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99291746 (GRCh38)
6:99739622 (GRCh37)
Canonical SPDI:: NC_000006.12:99291745:T:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99291746T>C, NC_000006.11:g.99739622T>C, NG_051943.1:g.63565A>G, NM_032511.4:c.898A>G, NM_032511.3:c.898A>G, NM_032511.2:c.898A>G, NM_001346531.2:c.739A>G, NM_001346531.1:c.739A>G, NM_001346530.2:c.535A>G, NM_001346530.1:c.535A>G, NR_144463.2:n.571A>G, NR_144463.1:n.825A>G, NM_001346532.1:c.739A>G, NM_001346533.1:c.535A>G, NR_144464.1:n.790A>G, XM_006715582.3:c.250A>G, XM_006715582.2:c.250A>G, XM_006715582.1:c.250A>G, NP_115900.1:p.Met300Val, NP_001333460.1:p.Met247Val, NP_001333459.1:p.Met179Val, NP_001333461.1:p.Met247Val, NP_001333462.1:p.Met179Val, XP_006715645.1:p.Met84Val

Select item 145209468111.

rs1452094681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:99291786 (GRCh38)
6:99739662 (GRCh37)
Canonical SPDI:: NC_000006.12:99291785:G:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99291786G>T, NC_000006.11:g.99739662G>T, NG_051943.1:g.63525C>A, NM_032511.4:c.858C>A, NM_032511.3:c.858C>A, NM_032511.2:c.858C>A, NM_001346531.2:c.699C>A, NM_001346531.1:c.699C>A, NM_001346530.2:c.495C>A, NM_001346530.1:c.495C>A, NR_144463.2:n.531C>A, NR_144463.1:n.785C>A, NM_001346532.1:c.699C>A, NM_001346533.1:c.495C>A, NR_144464.1:n.750C>A, XM_006715582.3:c.210C>A, XM_006715582.2:c.210C>A, XM_006715582.1:c.210C>A

Select item 144844031712.

rs1448440317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:99281255 (GRCh38)
6:99729131 (GRCh37)
Canonical SPDI:: NC_000006.12:99281254:G:A
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99281255G>A, NC_000006.11:g.99729131G>A, NG_051943.1:g.74056C>T, NM_032511.4:c.1139C>T, NM_032511.3:c.1139C>T, NM_032511.2:c.1139C>T, NM_001346531.2:c.980C>T, NM_001346531.1:c.980C>T, NM_001346530.2:c.776C>T, NM_001346530.1:c.776C>T, NR_144463.2:n.812C>T, NR_144463.1:n.1066C>T, NM_001346532.1:c.980C>T, NM_001346533.1:c.776C>T, NR_144464.1:n.1031C>T, XM_006715582.3:c.491C>T, XM_006715582.2:c.491C>T, XM_006715582.1:c.491C>T, NP_115900.1:p.Ser380Phe, NP_001333460.1:p.Ser327Phe, NP_001333459.1:p.Ser259Phe, NP_001333461.1:p.Ser327Phe, NP_001333462.1:p.Ser259Phe, XP_006715645.1:p.Ser164Phe

Select item 144829171813.

rs1448291718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:99333404 (GRCh38)
6:99781280 (GRCh37)
Canonical SPDI:: NC_000006.12:99333403:A:C
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_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)
HGVS:: NC_000006.12:g.99333404A>C, NC_000006.11:g.99781280A>C, NG_051943.1:g.21907T>G, NM_032511.4:c.546T>G, NM_032511.3:c.546T>G, NM_032511.2:c.546T>G, NM_001346531.2:c.387T>G, NM_001346531.1:c.387T>G, NM_001346530.2:c.183T>G, NM_001346530.1:c.183T>G, NR_144463.2:n.443T>G, NR_144463.1:n.697T>G, NM_001346532.1:c.387T>G, NM_001346533.1:c.183T>G, NR_144464.1:n.662T>G, XM_011536189.4:c.546T>G, XM_011536189.3:c.546T>G, XM_011536189.2:c.546T>G, XM_011536189.1:c.546T>G, NP_115900.1:p.His182Gln, NP_001333460.1:p.His129Gln, NP_001333459.1:p.His61Gln, NP_001333461.1:p.His129Gln, NP_001333462.1:p.His61Gln, XP_011534491.1:p.His182Gln

Select item 144765267214.

rs1447652672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99342992 (GRCh38)
6:99790868 (GRCh37)
Canonical SPDI:: NC_000006.12:99342991:T:C
Gene:: FAXC (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.99342992T>C, NC_000006.11:g.99790868T>C, NG_051943.1:g.12319A>G, NM_032511.4:c.308A>G, NM_032511.3:c.308A>G, NM_032511.2:c.308A>G, NM_001346531.2:c.149A>G, NM_001346531.1:c.149A>G, NM_001346530.2:c.-56A>G, NM_001346530.1:c.-56A>G, NR_144463.2:n.205A>G, NR_144463.1:n.459A>G, NM_001346532.1:c.149A>G, NM_001346533.1:c.-56A>G, NR_144464.1:n.424A>G, XM_011536189.4:c.308A>G, XM_011536189.3:c.308A>G, XM_011536189.2:c.308A>G, XM_011536189.1:c.308A>G, NP_115900.1:p.His103Arg, NP_001333460.1:p.His50Arg, NP_001333461.1:p.His50Arg, XP_011534491.1:p.His103Arg

Select item 144719757815.

rs1447197578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:99342915 (GRCh38)
6:99790791 (GRCh37)
Canonical SPDI:: NC_000006.12:99342914:C:A
Gene:: FAXC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99342915C>A, NC_000006.11:g.99790791C>A, NG_051943.1:g.12396G>T, NM_032511.4:c.385G>T, NM_032511.3:c.385G>T, NM_032511.2:c.385G>T, NM_001346531.2:c.226G>T, NM_001346531.1:c.226G>T, NM_001346530.2:c.22G>T, NM_001346530.1:c.22G>T, NR_144463.2:n.282G>T, NR_144463.1:n.536G>T, NM_001346532.1:c.226G>T, NM_001346533.1:c.22G>T, NR_144464.1:n.501G>T, XM_011536189.4:c.385G>T, XM_011536189.3:c.385G>T, XM_011536189.2:c.385G>T, XM_011536189.1:c.385G>T, NP_115900.1:p.Ala129Ser, NP_001333460.1:p.Ala76Ser, NP_001333459.1:p.Ala8Ser, NP_001333461.1:p.Ala76Ser, NP_001333462.1:p.Ala8Ser, XP_011534491.1:p.Ala129Ser

Select item 144620725916.

rs1446207259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:99281190 (GRCh38)
6:99729066 (GRCh37)
Canonical SPDI:: NC_000006.12:99281189:A:G
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.99281190A>G, NC_000006.11:g.99729066A>G, NG_051943.1:g.74121T>C, NM_032511.4:c.1204T>C, NM_032511.3:c.1204T>C, NM_032511.2:c.1204T>C, NM_001346531.2:c.1045T>C, NM_001346531.1:c.1045T>C, NM_001346530.2:c.841T>C, NM_001346530.1:c.841T>C, NR_144463.2:n.877T>C, NR_144463.1:n.1131T>C, NM_001346532.1:c.1045T>C, NM_001346533.1:c.841T>C, NR_144464.1:n.1096T>C, XM_006715582.3:c.556T>C, XM_006715582.2:c.556T>C, XM_006715582.1:c.556T>C, NP_115900.1:p.Tyr402His, NP_001333460.1:p.Tyr349His, NP_001333459.1:p.Tyr281His, NP_001333461.1:p.Tyr349His, NP_001333462.1:p.Tyr281His, XP_006715645.1:p.Tyr186His

Select item 144287033117.

rs1442870331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:99281211 (GRCh38)
6:99729087 (GRCh37)
Canonical SPDI:: NC_000006.12:99281210:A:T
Gene:: FAXC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.99281211A>T, NC_000006.11:g.99729087A>T, NG_051943.1:g.74100T>A, NM_032511.4:c.1183T>A, NM_032511.3:c.1183T>A, NM_032511.2:c.1183T>A, NM_001346531.2:c.1024T>A, NM_001346531.1:c.1024T>A, NM_001346530.2:c.820T>A, NM_001346530.1:c.820T>A, NR_144463.2:n.856T>A, NR_144463.1:n.1110T>A, NM_001346532.1:c.1024T>A, NM_001346533.1:c.820T>A, NR_144464.1:n.1075T>A, XM_006715582.3:c.535T>A, XM_006715582.2:c.535T>A, XM_006715582.1:c.535T>A, NP_115900.1:p.Ser395Thr, NP_001333460.1:p.Ser342Thr, NP_001333459.1:p.Ser274Thr, NP_001333461.1:p.Ser342Thr, NP_001333462.1:p.Ser274Thr, XP_006715645.1:p.Ser179Thr

Select item 144272456118.

rs1442724561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:99349218 (GRCh38)
6:99797094 (GRCh37)
Canonical SPDI:: NC_000006.12:99349217:C:G
Gene:: FAXC (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.99349218C>G, NC_000006.11:g.99797094C>G, NG_051943.1:g.6093G>C, NM_032511.4:c.155G>C, NM_032511.3:c.155G>C, NM_032511.2:c.155G>C, NM_001346531.2:c.-5G>C, NM_001346531.1:c.-5G>C, NR_144463.2:n.52G>C, NR_144463.1:n.306G>C, NM_001346532.1:c.-5G>C, NR_144464.1:n.271G>C, XM_011536189.4:c.155G>C, XM_011536189.3:c.155G>C, XM_011536189.2:c.155G>C, XM_011536189.1:c.155G>C, NP_115900.1:p.Gly52Ala, XP_011534491.1:p.Gly52Ala

Select item 143517709519.

rs1435177095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:99281375 (GRCh38)
6:99729251 (GRCh37)
Canonical SPDI:: NC_000006.12:99281374:T:C
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.99281375T>C, NC_000006.11:g.99729251T>C, NG_051943.1:g.73936A>G, NM_032511.4:c.1019A>G, NM_032511.3:c.1019A>G, NM_032511.2:c.1019A>G, NM_001346531.2:c.860A>G, NM_001346531.1:c.860A>G, NM_001346530.2:c.656A>G, NM_001346530.1:c.656A>G, NR_144463.2:n.692A>G, NR_144463.1:n.946A>G, NM_001346532.1:c.860A>G, NM_001346533.1:c.656A>G, NR_144464.1:n.911A>G, XM_006715582.3:c.371A>G, XM_006715582.2:c.371A>G, XM_006715582.1:c.371A>G, NP_115900.1:p.Asn340Ser, NP_001333460.1:p.Asn287Ser, NP_001333459.1:p.Asn219Ser, NP_001333461.1:p.Asn287Ser, NP_001333462.1:p.Asn219Ser, XP_006715645.1:p.Asn124Ser

Select item 143376584520.

rs1433765845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:99349330 (GRCh38)
6:99797206 (GRCh37)
Canonical SPDI:: NC_000006.12:99349329:C:T
Gene:: FAXC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.99349330C>T, NC_000006.11:g.99797206C>T, NG_051943.1:g.5981G>A, NM_032511.4:c.43G>A, NM_032511.3:c.43G>A, NM_032511.2:c.43G>A, XM_011536189.4:c.43G>A, XM_011536189.3:c.43G>A, XM_011536189.2:c.43G>A, XM_011536189.1:c.43G>A, NP_115900.1:p.Val15Met, XP_011534491.1:p.Val15Met

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