SNP Links for Protein (Select 767905834) - SNP

Links from Protein

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Select item 14902414391.

rs1490241439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:12192929 (GRCh38)
1:12252986 (GRCh37)
Canonical SPDI:: NC_000001.11:12192928:C:A
Gene:: TNFRSF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.12192929C>A, NC_000001.10:g.12252986C>A, NG_029791.1:g.30927C>A, NM_001066.3:c.618C>A, NM_001066.2:c.618C>A, XM_011542060.3:c.618C>A, XM_011542060.2:c.618C>A, XM_011542060.1:c.618C>A, XM_011542063.3:c.618C>A, XM_011542063.2:c.618C>A, XM_011542063.1:c.618C>A, XM_047429424.1:c.465C>A, XM_047429423.1:c.597C>A, XM_047429422.1:c.618C>A

Select item 14893617362.

rs1489361736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:12191874 (GRCh38)
1:12251931 (GRCh37)
Canonical SPDI:: NC_000001.11:12191873:G:A,NC_000001.11:12191873:G:C
Gene:: TNFRSF1B (Varview), MIR4632 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12191874G>A, NC_000001.11:g.12191874G>C, NC_000001.10:g.12251931G>A, NC_000001.10:g.12251931G>C, NG_029791.1:g.29872G>A, NG_029791.1:g.29872G>C, NM_001066.3:c.408G>A, NM_001066.3:c.408G>C, NM_001066.2:c.408G>A, NM_001066.2:c.408G>C, XM_011542060.3:c.408G>A, XM_011542060.3:c.408G>C, XM_011542060.2:c.408G>A, XM_011542060.2:c.408G>C, XM_011542060.1:c.408G>A, XM_011542060.1:c.408G>C, XM_011542063.3:c.408G>A, XM_011542063.3:c.408G>C, XM_011542063.2:c.408G>A, XM_011542063.2:c.408G>C, XM_011542063.1:c.408G>A, XM_011542063.1:c.408G>C, XM_047429424.1:c.255G>A, XM_047429424.1:c.255G>C, XM_047429423.1:c.387G>A, XM_047429423.1:c.387G>C, XM_047429422.1:c.408G>A, XM_047429422.1:c.408G>C

Select item 14870730473.

rs1487073047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:12192464 (GRCh38)
1:12252521 (GRCh37)
Canonical SPDI:: NC_000001.11:12192463:G:A
Gene:: TNFRSF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.12192464G>A, NC_000001.10:g.12252521G>A, NG_029791.1:g.30462G>A, NM_001066.3:c.491G>A, NM_001066.2:c.491G>A, XM_011542060.3:c.491G>A, XM_011542060.2:c.491G>A, XM_011542060.1:c.491G>A, XM_011542063.3:c.491G>A, XM_011542063.2:c.491G>A, XM_011542063.1:c.491G>A, XM_047429424.1:c.338G>A, XM_047429423.1:c.470G>A, XM_047429422.1:c.491G>A, NP_001057.1:p.Cys164Tyr, XP_011540362.1:p.Cys164Tyr, XP_011540365.1:p.Cys164Tyr, XP_047285380.1:p.Cys113Tyr, XP_047285379.1:p.Cys157Tyr, XP_047285378.1:p.Cys164Tyr

Select item 14868865814.

rs1486886581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:12193076 (GRCh38)
1:12253133 (GRCh37)
Canonical SPDI:: NC_000001.11:12193075:T:C
Gene:: TNFRSF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.12193076T>C, NC_000001.10:g.12253133T>C, NG_029791.1:g.31074T>C, NM_001066.3:c.765T>C, NM_001066.2:c.765T>C, XM_011542060.3:c.765T>C, XM_011542060.2:c.765T>C, XM_011542060.1:c.765T>C, XM_011542063.3:c.765T>C, XM_011542063.2:c.765T>C, XM_011542063.1:c.765T>C, XM_047429424.1:c.612T>C, XM_047429423.1:c.744T>C, XM_047429422.1:c.765T>C

Select item 14864207325.

rs1486420732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:12194009 (GRCh38)
1:12254066 (GRCh37)
Canonical SPDI:: NC_000001.11:12194008:G:C
Gene:: TNFRSF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000684/2 (KOREAN)
C=0.018692/4 (Vietnamese)
HGVS:: NC_000001.11:g.12194009G>C, NC_000001.10:g.12254066G>C, NG_029791.1:g.32007G>C, NM_001066.3:c.842G>C, NM_001066.2:c.842G>C, XM_011542060.3:c.842G>C, XM_011542060.2:c.842G>C, XM_011542060.1:c.842G>C, XM_011542063.3:c.842G>C, XM_011542063.2:c.842G>C, XM_011542063.1:c.842G>C, XM_047429424.1:c.689G>C, XM_047429423.1:c.821G>C, XM_047429422.1:c.842G>C, NP_001057.1:p.Cys281Ser, XP_011540362.1:p.Cys281Ser, XP_011540365.1:p.Cys281Ser, XP_047285380.1:p.Cys230Ser, XP_047285379.1:p.Cys274Ser, XP_047285378.1:p.Cys281Ser

Select item 14860912766.

rs1486091276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12193002 (GRCh38)
1:12253059 (GRCh37)
Canonical SPDI:: NC_000001.11:12193001:C:T
Gene:: TNFRSF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.12193002C>T, NC_000001.10:g.12253059C>T, NG_029791.1:g.31000C>T, NM_001066.3:c.691C>T, NM_001066.2:c.691C>T, XM_011542060.3:c.691C>T, XM_011542060.2:c.691C>T, XM_011542060.1:c.691C>T, XM_011542063.3:c.691C>T, XM_011542063.2:c.691C>T, XM_011542063.1:c.691C>T, XM_047429424.1:c.538C>T, XM_047429423.1:c.670C>T, XM_047429422.1:c.691C>T, NP_001057.1:p.Pro231Ser, XP_011540362.1:p.Pro231Ser, XP_011540365.1:p.Pro231Ser, XP_047285380.1:p.Pro180Ser, XP_047285379.1:p.Pro224Ser, XP_047285378.1:p.Pro231Ser

Select item 14846288867.

rs1484628886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:12206846 (GRCh38)
1:12266903 (GRCh37)
Canonical SPDI:: NC_000001.11:12206845:A:G
Gene:: TNFRSF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.12206846A>G, NC_000001.10:g.12266903A>G, NG_029791.1:g.44844A>G, NM_001066.3:c.1212A>G, NM_001066.2:c.1212A>G, XM_011542060.3:c.1281A>G, XM_011542060.2:c.1281A>G, XM_011542060.1:c.1281A>G, XM_011542063.3:c.1215A>G, XM_011542063.2:c.1215A>G, XM_011542063.1:c.1215A>G, XM_047429424.1:c.1128A>G, XM_047429423.1:c.1260A>G, XM_047429422.1:c.1278A>G

Select item 14822411168.

rs1482241116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:12191051 (GRCh38)
1:12251108 (GRCh37)
Canonical SPDI:: NC_000001.11:12191050:C:A
Gene:: TNFRSF1B (Varview), MIR4632 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12191051C>A, NC_000001.10:g.12251108C>A, NG_029791.1:g.29049C>A, NM_001066.3:c.273C>A, NM_001066.2:c.273C>A, XM_011542060.3:c.273C>A, XM_011542060.2:c.273C>A, XM_011542060.1:c.273C>A, XM_011542063.3:c.273C>A, XM_011542063.2:c.273C>A, XM_011542063.1:c.273C>A, XM_047429424.1:c.120C>A, XM_047429423.1:c.252C>A, XM_047429422.1:c.273C>A

Select item 14810547739.

rs1481054773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:12192946 (GRCh38)
1:12253003 (GRCh37)
Canonical SPDI:: NC_000001.11:12192945:G:A
Gene:: TNFRSF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12192946G>A, NC_000001.10:g.12253003G>A, NG_029791.1:g.30944G>A, NM_001066.3:c.635G>A, NM_001066.2:c.635G>A, XM_011542060.3:c.635G>A, XM_011542060.2:c.635G>A, XM_011542060.1:c.635G>A, XM_011542063.3:c.635G>A, XM_011542063.2:c.635G>A, XM_011542063.1:c.635G>A, XM_047429424.1:c.482G>A, XM_047429423.1:c.614G>A, XM_047429422.1:c.635G>A, NP_001057.1:p.Gly212Glu, XP_011540362.1:p.Gly212Glu, XP_011540365.1:p.Gly212Glu, XP_047285380.1:p.Gly161Glu, XP_047285379.1:p.Gly205Glu, XP_047285378.1:p.Gly212Glu

Select item 148040402810.

rs1480404028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:12193986 (GRCh38)
1:12254043 (GRCh37)
Canonical SPDI:: NC_000001.11:12193985:A:G
Gene:: TNFRSF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.12193986A>G, NC_000001.10:g.12254043A>G, NG_029791.1:g.31984A>G, NM_001066.3:c.819A>G, NM_001066.2:c.819A>G, XM_011542060.3:c.819A>G, XM_011542060.2:c.819A>G, XM_011542060.1:c.819A>G, XM_011542063.3:c.819A>G, XM_011542063.2:c.819A>G, XM_011542063.1:c.819A>G, XM_047429424.1:c.666A>G, XM_047429423.1:c.798A>G, XM_047429422.1:c.819A>G

Select item 147768367411.

rs1477683674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:12192471 (GRCh38)
1:12252528 (GRCh37)
Canonical SPDI:: NC_000001.11:12192470:G:A,NC_000001.11:12192470:G:C
Gene:: TNFRSF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.12192471G>A, NC_000001.11:g.12192471G>C, NC_000001.10:g.12252528G>A, NC_000001.10:g.12252528G>C, NG_029791.1:g.30469G>A, NG_029791.1:g.30469G>C, NM_001066.3:c.498G>A, NM_001066.3:c.498G>C, NM_001066.2:c.498G>A, NM_001066.2:c.498G>C, XM_011542060.3:c.498G>A, XM_011542060.3:c.498G>C, XM_011542060.2:c.498G>A, XM_011542060.2:c.498G>C, XM_011542060.1:c.498G>A, XM_011542060.1:c.498G>C, XM_011542063.3:c.498G>A, XM_011542063.3:c.498G>C, XM_011542063.2:c.498G>A, XM_011542063.2:c.498G>C, XM_011542063.1:c.498G>A, XM_011542063.1:c.498G>C, XM_047429424.1:c.345G>A, XM_047429424.1:c.345G>C, XM_047429423.1:c.477G>A, XM_047429423.1:c.477G>C, XM_047429422.1:c.498G>A, XM_047429422.1:c.498G>C

Select item 147740546912.

rs1477405469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12190976 (GRCh38)
1:12251033 (GRCh37)
Canonical SPDI:: NC_000001.11:12190975:C:T
Gene:: TNFRSF1B (Varview), MIR4632 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.12190976C>T, NC_000001.10:g.12251033C>T, NG_029791.1:g.28974C>T, NM_001066.3:c.198C>T, NM_001066.2:c.198C>T, XM_011542060.3:c.198C>T, XM_011542060.2:c.198C>T, XM_011542060.1:c.198C>T, XM_011542063.3:c.198C>T, XM_011542063.2:c.198C>T, XM_011542063.1:c.198C>T, XM_047429424.1:c.45C>T, XM_047429423.1:c.177C>T, XM_047429422.1:c.198C>T

Select item 147665151813.

rs1476651518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:12192957 (GRCh38)
1:12253014 (GRCh37)
Canonical SPDI:: NC_000001.11:12192956:T:C
Gene:: TNFRSF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.12192957T>C, NC_000001.10:g.12253014T>C, NG_029791.1:g.30955T>C, NM_001066.3:c.646T>C, NM_001066.2:c.646T>C, XM_011542060.3:c.646T>C, XM_011542060.2:c.646T>C, XM_011542060.1:c.646T>C, XM_011542063.3:c.646T>C, XM_011542063.2:c.646T>C, XM_011542063.1:c.646T>C, XM_047429424.1:c.493T>C, XM_047429423.1:c.625T>C, XM_047429422.1:c.646T>C

Select item 147545868414.

rs1475458684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12202569 (GRCh38)
1:12262626 (GRCh37)
Canonical SPDI:: NC_000001.11:12202568:C:T
Gene:: TNFRSF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.12202569C>T, NC_000001.10:g.12262626C>T, NG_029791.1:g.40567C>T, XM_011542060.3:c.1168C>T, XM_011542060.2:c.1168C>T, XM_011542060.1:c.1168C>T, XM_047429424.1:c.1015C>T, XM_047429423.1:c.1147C>T, XM_047429422.1:c.1168C>T, XP_011540362.1:p.Pro390Ser, XP_047285380.1:p.Pro339Ser, XP_047285379.1:p.Pro383Ser, XP_047285378.1:p.Pro390Ser

Select item 147294517515.

rs1472945175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:12206863 (GRCh38)
1:12266920 (GRCh37)
Canonical SPDI:: NC_000001.11:12206862:C:T
Gene:: TNFRSF1B (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.12206863C>T, NC_000001.10:g.12266920C>T, NG_029791.1:g.44861C>T, NM_001066.3:c.1229C>T, NM_001066.2:c.1229C>T, XM_011542060.3:c.1298C>T, XM_011542060.2:c.1298C>T, XM_011542060.1:c.1298C>T, XM_011542063.3:c.1232C>T, XM_011542063.2:c.1232C>T, XM_011542063.1:c.1232C>T, XM_047429424.1:c.1145C>T, XM_047429423.1:c.1277C>T, XM_047429422.1:c.1295C>T, NP_001057.1:p.Ser410Phe, XP_011540362.1:p.Ser433Phe, XP_011540365.1:p.Ser411Phe, XP_047285380.1:p.Ser382Phe, XP_047285379.1:p.Ser426Phe, XP_047285378.1:p.Ser432Phe

Select item 147058400816.

rs1470584008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:12192866 (GRCh38)
1:12252923 (GRCh37)
Canonical SPDI:: NC_000001.11:12192865:T:G
Gene:: TNFRSF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.12192866T>G, NC_000001.10:g.12252923T>G, NG_029791.1:g.30864T>G, NM_001066.3:c.555T>G, NM_001066.2:c.555T>G, XM_011542060.3:c.555T>G, XM_011542060.2:c.555T>G, XM_011542060.1:c.555T>G, XM_011542063.3:c.555T>G, XM_011542063.2:c.555T>G, XM_011542063.1:c.555T>G, XM_047429424.1:c.402T>G, XM_047429423.1:c.534T>G, XM_047429422.1:c.555T>G, NP_001057.1:p.Cys185Trp, XP_011540362.1:p.Cys185Trp, XP_011540365.1:p.Cys185Trp, XP_047285380.1:p.Cys134Trp, XP_047285379.1:p.Cys178Trp, XP_047285378.1:p.Cys185Trp

Select item 146774538217.

rs1467745382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:12206904 (GRCh38)
1:12266961 (GRCh37)
Canonical SPDI:: NC_000001.11:12206903:T:A
Gene:: TNFRSF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.12206904T>A, NC_000001.10:g.12266961T>A, NG_029791.1:g.44902T>A, NM_001066.3:c.1270T>A, NM_001066.2:c.1270T>A, XM_011542060.3:c.1339T>A, XM_011542060.2:c.1339T>A, XM_011542060.1:c.1339T>A, XM_011542063.3:c.1273T>A, XM_011542063.2:c.1273T>A, XM_011542063.1:c.1273T>A, XM_047429424.1:c.1186T>A, XM_047429423.1:c.1318T>A, XM_047429422.1:c.1336T>A, NP_001057.1:p.Ser424Thr, XP_011540362.1:p.Ser447Thr, XP_011540365.1:p.Ser425Thr, XP_047285380.1:p.Ser396Thr, XP_047285379.1:p.Ser440Thr, XP_047285378.1:p.Ser446Thr

Select item 146515974718.

rs1465159747 [Homo sapiens]

Variant type:: DEL
Alleles:: GACTGTCAGACTGCATGTACAGACATTGTCTTCTC>- [Show Flanks]
Chromosome:: 1:12202507 (GRCh38)
1:12262564 (GRCh37)
Canonical SPDI:: NC_000001.11:12202506:GACTGTCAGACTGCATGTACAGACATTGTCTTCTC:
Gene:: TNFRSF1B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.12202507_12202541del, NC_000001.10:g.12262564_12262598del, NG_029791.1:g.40505_40539del, XM_011542060.3:c.1106_1140del, XM_011542060.2:c.1106_1140del, XM_011542060.1:c.1106_1140del, XM_047429424.1:c.953_987del, XM_047429423.1:c.1085_1119del, XM_047429422.1:c.1106_1140del, XP_011540362.1:p.Gly369fs, XP_047285380.1:p.Gly318fs, XP_047285379.1:p.Gly362fs, XP_047285378.1:p.Gly369fs

Select item 146494385419.

rs1464943854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:12191830 (GRCh38)
1:12251887 (GRCh37)
Canonical SPDI:: NC_000001.11:12191829:C:A
Gene:: TNFRSF1B (Varview), MIR4632 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.12191830C>A, NC_000001.10:g.12251887C>A, NG_029791.1:g.29828C>A, NM_001066.3:c.364C>A, NM_001066.2:c.364C>A, XM_011542060.3:c.364C>A, XM_011542060.2:c.364C>A, XM_011542060.1:c.364C>A, XM_011542063.3:c.364C>A, XM_011542063.2:c.364C>A, XM_011542063.1:c.364C>A, XM_047429424.1:c.211C>A, XM_047429423.1:c.343C>A, XM_047429422.1:c.364C>A, NP_001057.1:p.Pro122Thr, XP_011540362.1:p.Pro122Thr, XP_011540365.1:p.Pro122Thr, XP_047285380.1:p.Pro71Thr, XP_047285379.1:p.Pro115Thr, XP_047285378.1:p.Pro122Thr

Select item 146478136920.

rs1464781369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:12167140 (GRCh38)
1:12227197 (GRCh37)
Canonical SPDI:: NC_000001.11:12167139:T:C
Gene:: TNFRSF1B (Varview), MIR7846 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12167140T>C, NC_000001.10:g.12227197T>C, NG_029791.1:g.5138T>C, NM_001066.3:c.49T>C, NM_001066.2:c.49T>C, XM_011542060.3:c.49T>C, XM_011542060.2:c.49T>C, XM_011542060.1:c.49T>C, XM_011542063.3:c.49T>C, XM_011542063.2:c.49T>C, XM_011542063.1:c.49T>C, XM_047429422.1:c.49T>C, NP_001057.1:p.Trp17Arg, XP_011540362.1:p.Trp17Arg, XP_011540365.1:p.Trp17Arg, XP_047285378.1:p.Trp17Arg

dbSNP

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