SNP Links for Protein (Select 38505222) - SNP

Links from Protein

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Select item 14896255161.

rs1489625516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:68700458 (GRCh38)
18:66367695 (GRCh37)
Canonical SPDI:: NC_000018.10:68700457:A:G
Gene:: TMX3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000018.10:g.68700458A>G, NC_000018.9:g.66367695A>G, NG_053149.1:g.19841T>C, NM_019022.5:c.339T>C, NM_019022.4:c.339T>C, NM_019022.3:c.339T>C, NM_001350517.2:c.-85T>C, NM_001350517.1:c.-85T>C, NM_001350515.2:c.-85T>C, NM_001350515.1:c.-85T>C, NM_001350512.2:c.339T>C, NM_001350512.1:c.339T>C, XM_011526035.4:c.339T>C, XM_011526035.3:c.339T>C, XM_011526035.2:c.339T>C, XM_011526035.1:c.339T>C, XM_011526034.4:c.339T>C, XM_011526034.3:c.339T>C, XM_011526034.2:c.339T>C, XM_011526034.1:c.339T>C, XR_935227.3:n.466T>C, XR_935227.2:n.470T>C, XR_935227.1:n.466T>C

Select item 14895537312.

rs1489553731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:68711384 (GRCh38)
18:66378621 (GRCh37)
Canonical SPDI:: NC_000018.10:68711383:C:T
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000018.10:g.68711384C>T, NC_000018.9:g.66378621C>T, NG_053149.1:g.8915G>A, NM_019022.5:c.121G>A, NM_019022.4:c.121G>A, NM_019022.3:c.121G>A, NM_001350517.2:c.-355G>A, NM_001350517.1:c.-355G>A, NM_001350515.2:c.-257G>A, NM_001350515.1:c.-257G>A, NM_001350514.2:c.121G>A, NM_001350514.1:c.121G>A, NM_001350516.2:c.-176G>A, NM_001350516.1:c.-176G>A, NM_001350512.2:c.121G>A, NM_001350512.1:c.121G>A, NM_001350513.2:c.121G>A, NM_001350513.1:c.121G>A, XM_011526035.4:c.121G>A, XM_011526035.3:c.121G>A, XM_011526035.2:c.121G>A, XM_011526035.1:c.121G>A, XM_011526034.4:c.121G>A, XM_011526034.3:c.121G>A, XM_011526034.2:c.121G>A, XM_011526034.1:c.121G>A, XR_935227.3:n.248G>A, XR_935227.2:n.252G>A, XR_935227.1:n.248G>A, NP_061895.3:p.Asp41Asn, NP_001337443.1:p.Asp41Asn, NP_001337441.1:p.Asp41Asn, NP_001337442.1:p.Asp41Asn, XP_011524337.1:p.Asp41Asn, XP_011524336.1:p.Asp41Asn

Select item 14893634563.

rs1489363456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:68676981 (GRCh38)
18:66344218 (GRCh37)
Canonical SPDI:: NC_000018.10:68676980:C:T
Gene:: TMX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.68676981C>T, NC_000018.9:g.66344218C>T, NG_053149.1:g.43318G>A, NM_019022.5:c.1317G>A, NM_019022.4:c.1317G>A, NM_019022.3:c.1317G>A, NM_001350517.2:c.894G>A, NM_001350517.1:c.894G>A, NM_001350515.2:c.894G>A, NM_001350515.1:c.894G>A, NM_001350514.2:c.1236G>A, NM_001350514.1:c.1236G>A, NM_001350516.2:c.894G>A, NM_001350516.1:c.894G>A

Select item 14874101844.

rs1487410184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 18:68682958 (GRCh38)
18:66350195 (GRCh37)
Canonical SPDI:: NC_000018.10:68682957:T:A,NC_000018.10:68682957:T:C
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.68682958T>A, NC_000018.10:g.68682958T>C, NC_000018.9:g.66350195T>A, NC_000018.9:g.66350195T>C, NG_053149.1:g.37341A>T, NG_053149.1:g.37341A>G, NM_019022.5:c.872A>T, NM_019022.5:c.872A>G, NM_019022.4:c.872A>T, NM_019022.4:c.872A>G, NM_019022.3:c.872A>T, NM_019022.3:c.872A>G, NM_001350517.2:c.449A>T, NM_001350517.2:c.449A>G, NM_001350517.1:c.449A>T, NM_001350517.1:c.449A>G, NM_001350515.2:c.449A>T, NM_001350515.2:c.449A>G, NM_001350515.1:c.449A>T, NM_001350515.1:c.449A>G, NM_001350514.2:c.791A>T, NM_001350514.2:c.791A>G, NM_001350514.1:c.791A>T, NM_001350514.1:c.791A>G, NM_001350516.2:c.449A>T, NM_001350516.2:c.449A>G, NM_001350516.1:c.449A>T, NM_001350516.1:c.449A>G, XR_935227.3:n.999A>T, XR_935227.3:n.999A>G, XR_935227.2:n.1003A>T, XR_935227.2:n.1003A>G, XR_935227.1:n.999A>T, XR_935227.1:n.999A>G, NP_061895.3:p.Asp291Val, NP_061895.3:p.Asp291Gly, NP_001337446.1:p.Asp150Val, NP_001337446.1:p.Asp150Gly, NP_001337444.1:p.Asp150Val, NP_001337444.1:p.Asp150Gly, NP_001337443.1:p.Asp264Val, NP_001337443.1:p.Asp264Gly, NP_001337445.1:p.Asp150Val, NP_001337445.1:p.Asp150Gly

Select item 14852689665.

rs1485268966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:68714941 (GRCh38)
18:66382178 (GRCh37)
Canonical SPDI:: NC_000018.10:68714940:G:A
Gene:: TMX3 (Varview), CCDC102B (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000018.10:g.68714941G>A, NC_000018.9:g.66382178G>A, NG_053149.1:g.5358C>T, NM_019022.5:c.41C>T, NM_019022.4:c.41C>T, NM_019022.3:c.41C>T, NM_001350517.2:c.-435C>T, NM_001350517.1:c.-435C>T, NM_001350515.2:c.-337C>T, NM_001350515.1:c.-337C>T, NM_001350514.2:c.41C>T, NM_001350514.1:c.41C>T, NM_001350516.2:c.-256C>T, NM_001350516.1:c.-256C>T, NM_001350512.2:c.41C>T, NM_001350512.1:c.41C>T, NM_001350513.2:c.41C>T, NM_001350513.1:c.41C>T, XM_011526035.4:c.41C>T, XM_011526035.3:c.41C>T, XM_011526035.2:c.41C>T, XM_011526035.1:c.41C>T, XM_011526034.4:c.41C>T, XM_011526034.3:c.41C>T, XM_011526034.2:c.41C>T, XM_011526034.1:c.41C>T, XR_935227.3:n.168C>T, XR_935227.2:n.172C>T, XR_935227.1:n.168C>T, NP_061895.3:p.Ala14Val, NP_001337443.1:p.Ala14Val, NP_001337441.1:p.Ala14Val, NP_001337442.1:p.Ala14Val, XP_011524337.1:p.Ala14Val, XP_011524336.1:p.Ala14Val

Select item 14837720956.

rs1483772095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:68698021 (GRCh38)
18:66365258 (GRCh37)
Canonical SPDI:: NC_000018.10:68698020:G:A
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000018.10:g.68698021G>A, NC_000018.9:g.66365258G>A, NG_053149.1:g.22278C>T, NM_019022.5:c.403C>T, NM_019022.4:c.403C>T, NM_019022.3:c.403C>T, NM_001350517.2:c.-21C>T, NM_001350517.1:c.-21C>T, NM_001350515.2:c.-21C>T, NM_001350515.1:c.-21C>T, NM_001350514.2:c.322C>T, NM_001350514.1:c.322C>T, NM_001350516.2:c.-21C>T, NM_001350516.1:c.-21C>T, NM_001350512.2:c.403C>T, NM_001350512.1:c.403C>T, NM_001350513.2:c.322C>T, NM_001350513.1:c.322C>T, XM_011526035.4:c.403C>T, XM_011526035.3:c.403C>T, XM_011526035.2:c.403C>T, XM_011526035.1:c.403C>T, XM_011526034.4:c.403C>T, XM_011526034.3:c.403C>T, XM_011526034.2:c.403C>T, XM_011526034.1:c.403C>T, XR_935227.3:n.530C>T, XR_935227.2:n.534C>T, XR_935227.1:n.530C>T, NP_061895.3:p.Arg135Trp, NP_001337443.1:p.Arg108Trp, NP_001337441.1:p.Arg135Trp, NP_001337442.1:p.Arg108Trp, XP_011524337.1:p.Arg135Trp, XP_011524336.1:p.Arg135Trp

Select item 14823874037.

rs1482387403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:68714959 (GRCh38)
18:66382196 (GRCh37)
Canonical SPDI:: NC_000018.10:68714958:G:A,NC_000018.10:68714958:G:C
Gene:: TMX3 (Varview), CCDC102B (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.68714959G>A, NC_000018.10:g.68714959G>C, NC_000018.9:g.66382196G>A, NC_000018.9:g.66382196G>C, NG_053149.1:g.5340C>T, NG_053149.1:g.5340C>G, NM_019022.5:c.23C>T, NM_019022.5:c.23C>G, NM_019022.4:c.23C>T, NM_019022.4:c.23C>G, NM_019022.3:c.23C>T, NM_019022.3:c.23C>G, NM_001350517.2:c.-453C>T, NM_001350517.2:c.-453C>G, NM_001350517.1:c.-453C>T, NM_001350517.1:c.-453C>G, NM_001350515.2:c.-355C>T, NM_001350515.2:c.-355C>G, NM_001350515.1:c.-355C>T, NM_001350515.1:c.-355C>G, NM_001350514.2:c.23C>T, NM_001350514.2:c.23C>G, NM_001350514.1:c.23C>T, NM_001350514.1:c.23C>G, NM_001350516.2:c.-274C>T, NM_001350516.2:c.-274C>G, NM_001350516.1:c.-274C>T, NM_001350516.1:c.-274C>G, NM_001350512.2:c.23C>T, NM_001350512.2:c.23C>G, NM_001350512.1:c.23C>T, NM_001350512.1:c.23C>G, NM_001350513.2:c.23C>T, NM_001350513.2:c.23C>G, NM_001350513.1:c.23C>T, NM_001350513.1:c.23C>G, XM_011526035.4:c.23C>T, XM_011526035.4:c.23C>G, XM_011526035.3:c.23C>T, XM_011526035.3:c.23C>G, XM_011526035.2:c.23C>T, XM_011526035.2:c.23C>G, XM_011526035.1:c.23C>T, XM_011526035.1:c.23C>G, XM_011526034.4:c.23C>T, XM_011526034.4:c.23C>G, XM_011526034.3:c.23C>T, XM_011526034.3:c.23C>G, XM_011526034.2:c.23C>T, XM_011526034.2:c.23C>G, XM_011526034.1:c.23C>T, XM_011526034.1:c.23C>G, XR_935227.3:n.150C>T, XR_935227.3:n.150C>G, XR_935227.2:n.154C>T, XR_935227.2:n.154C>G, XR_935227.1:n.150C>T, XR_935227.1:n.150C>G, NP_061895.3:p.Thr8Met, NP_061895.3:p.Thr8Arg, NP_001337443.1:p.Thr8Met, NP_001337443.1:p.Thr8Arg, NP_001337441.1:p.Thr8Met, NP_001337441.1:p.Thr8Arg, NP_001337442.1:p.Thr8Met, NP_001337442.1:p.Thr8Arg, XP_011524337.1:p.Thr8Met, XP_011524337.1:p.Thr8Arg, XP_011524336.1:p.Thr8Met, XP_011524336.1:p.Thr8Arg

Select item 14809824418.

rs1480982441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:68681103 (GRCh38)
18:66348340 (GRCh37)
Canonical SPDI:: NC_000018.10:68681102:T:C
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.68681103T>C, NC_000018.9:g.66348340T>C, NG_053149.1:g.39196A>G, NM_019022.5:c.913A>G, NM_019022.4:c.913A>G, NM_019022.3:c.913A>G, NM_001350517.2:c.490A>G, NM_001350517.1:c.490A>G, NM_001350515.2:c.490A>G, NM_001350515.1:c.490A>G, NM_001350514.2:c.832A>G, NM_001350514.1:c.832A>G, NM_001350516.2:c.490A>G, NM_001350516.1:c.490A>G, XR_935227.3:n.1293A>G, XR_935227.2:n.1297A>G, XR_935227.1:n.1293A>G, NP_061895.3:p.Thr305Ala, NP_001337446.1:p.Thr164Ala, NP_001337444.1:p.Thr164Ala, NP_001337443.1:p.Thr278Ala, NP_001337445.1:p.Thr164Ala

Select item 14783224309.

rs1478322430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:68676988 (GRCh38)
18:66344225 (GRCh37)
Canonical SPDI:: NC_000018.10:68676987:G:C
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.68676988G>C, NC_000018.9:g.66344225G>C, NG_053149.1:g.43311C>G, NM_019022.5:c.1310C>G, NM_019022.4:c.1310C>G, NM_019022.3:c.1310C>G, NM_001350517.2:c.887C>G, NM_001350517.1:c.887C>G, NM_001350515.2:c.887C>G, NM_001350515.1:c.887C>G, NM_001350514.2:c.1229C>G, NM_001350514.1:c.1229C>G, NM_001350516.2:c.887C>G, NM_001350516.1:c.887C>G, NP_061895.3:p.Ser437Cys, NP_001337446.1:p.Ser296Cys, NP_001337444.1:p.Ser296Cys, NP_001337443.1:p.Ser410Cys, NP_001337445.1:p.Ser296Cys

Select item 147638220910.

rs1476382209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:68682969 (GRCh38)
18:66350206 (GRCh37)
Canonical SPDI:: NC_000018.10:68682968:A:C
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.68682969A>C, NC_000018.9:g.66350206A>C, NG_053149.1:g.37330T>G, NM_019022.5:c.861T>G, NM_019022.4:c.861T>G, NM_019022.3:c.861T>G, NM_001350517.2:c.438T>G, NM_001350517.1:c.438T>G, NM_001350515.2:c.438T>G, NM_001350515.1:c.438T>G, NM_001350514.2:c.780T>G, NM_001350514.1:c.780T>G, NM_001350516.2:c.438T>G, NM_001350516.1:c.438T>G, XR_935227.3:n.988T>G, XR_935227.2:n.992T>G, XR_935227.1:n.988T>G, NP_061895.3:p.Phe287Leu, NP_001337446.1:p.Phe146Leu, NP_001337444.1:p.Phe146Leu, NP_001337443.1:p.Phe260Leu, NP_001337445.1:p.Phe146Leu

Select item 147635002811.

rs1476350028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:68681097 (GRCh38)
18:66348334 (GRCh37)
Canonical SPDI:: NC_000018.10:68681096:G:A
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.68681097G>A, NC_000018.9:g.66348334G>A, NG_053149.1:g.39202C>T, NM_019022.5:c.919C>T, NM_019022.4:c.919C>T, NM_019022.3:c.919C>T, NM_001350517.2:c.496C>T, NM_001350517.1:c.496C>T, NM_001350515.2:c.496C>T, NM_001350515.1:c.496C>T, NM_001350514.2:c.838C>T, NM_001350514.1:c.838C>T, NM_001350516.2:c.496C>T, NM_001350516.1:c.496C>T, XR_935227.3:n.1299C>T, XR_935227.2:n.1303C>T, XR_935227.1:n.1299C>T, NP_061895.3:p.Pro307Ser, NP_001337446.1:p.Pro166Ser, NP_001337444.1:p.Pro166Ser, NP_001337443.1:p.Pro280Ser, NP_001337445.1:p.Pro166Ser

Select item 147514029812.

rs1475140298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:68697973 (GRCh38)
18:66365210 (GRCh37)
Canonical SPDI:: NC_000018.10:68697972:G:A,NC_000018.10:68697972:G:T
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.68697973G>A, NC_000018.10:g.68697973G>T, NC_000018.9:g.66365210G>A, NC_000018.9:g.66365210G>T, NG_053149.1:g.22326C>T, NG_053149.1:g.22326C>A, NM_019022.5:c.451C>T, NM_019022.5:c.451C>A, NM_019022.4:c.451C>T, NM_019022.4:c.451C>A, NM_019022.3:c.451C>T, NM_019022.3:c.451C>A, NM_001350517.2:c.28C>T, NM_001350517.2:c.28C>A, NM_001350517.1:c.28C>T, NM_001350517.1:c.28C>A, NM_001350515.2:c.28C>T, NM_001350515.2:c.28C>A, NM_001350515.1:c.28C>T, NM_001350515.1:c.28C>A, NM_001350514.2:c.370C>T, NM_001350514.2:c.370C>A, NM_001350514.1:c.370C>T, NM_001350514.1:c.370C>A, NM_001350516.2:c.28C>T, NM_001350516.2:c.28C>A, NM_001350516.1:c.28C>T, NM_001350516.1:c.28C>A, NM_001350512.2:c.451C>T, NM_001350512.2:c.451C>A, NM_001350512.1:c.451C>T, NM_001350512.1:c.451C>A, NM_001350513.2:c.370C>T, NM_001350513.2:c.370C>A, NM_001350513.1:c.370C>T, NM_001350513.1:c.370C>A, XM_011526035.4:c.451C>T, XM_011526035.4:c.451C>A, XM_011526035.3:c.451C>T, XM_011526035.3:c.451C>A, XM_011526035.2:c.451C>T, XM_011526035.2:c.451C>A, XM_011526035.1:c.451C>T, XM_011526035.1:c.451C>A, XM_011526034.4:c.451C>T, XM_011526034.4:c.451C>A, XM_011526034.3:c.451C>T, XM_011526034.3:c.451C>A, XM_011526034.2:c.451C>T, XM_011526034.2:c.451C>A, XM_011526034.1:c.451C>T, XM_011526034.1:c.451C>A, XR_935227.3:n.578C>T, XR_935227.3:n.578C>A, XR_935227.2:n.582C>T, XR_935227.2:n.582C>A, XR_935227.1:n.578C>T, XR_935227.1:n.578C>A, NP_061895.3:p.Arg151Cys, NP_061895.3:p.Arg151Ser, NP_001337446.1:p.Arg10Cys, NP_001337446.1:p.Arg10Ser, NP_001337444.1:p.Arg10Cys, NP_001337444.1:p.Arg10Ser, NP_001337443.1:p.Arg124Cys, NP_001337443.1:p.Arg124Ser, NP_001337445.1:p.Arg10Cys, NP_001337445.1:p.Arg10Ser, NP_001337441.1:p.Arg151Cys, NP_001337441.1:p.Arg151Ser, NP_001337442.1:p.Arg124Cys, NP_001337442.1:p.Arg124Ser, XP_011524337.1:p.Arg151Cys, XP_011524337.1:p.Arg151Ser, XP_011524336.1:p.Arg151Cys, XP_011524336.1:p.Arg151Ser

Select item 147442278313.

rs1474422783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:68691335 (GRCh38)
18:66358572 (GRCh37)
Canonical SPDI:: NC_000018.10:68691334:A:G
Gene:: TMX3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.68691335A>G, NC_000018.9:g.66358572A>G, NG_053149.1:g.28964T>C, NM_019022.5:c.597T>C, NM_019022.4:c.597T>C, NM_019022.3:c.597T>C, NM_001350517.2:c.174T>C, NM_001350517.1:c.174T>C, NM_001350515.2:c.174T>C, NM_001350515.1:c.174T>C, NM_001350514.2:c.516T>C, NM_001350514.1:c.516T>C, NM_001350516.2:c.174T>C, NM_001350516.1:c.174T>C, NM_001350513.2:c.516T>C, NM_001350513.1:c.516T>C, XM_011526035.4:c.597T>C, XM_011526035.3:c.597T>C, XM_011526035.2:c.597T>C, XM_011526035.1:c.597T>C, XM_011526034.4:c.597T>C, XM_011526034.3:c.597T>C, XM_011526034.2:c.597T>C, XM_011526034.1:c.597T>C, XR_935227.3:n.724T>C, XR_935227.2:n.728T>C, XR_935227.1:n.724T>C

Select item 147281042514.

rs1472810425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:68700464 (GRCh38)
18:66367701 (GRCh37)
Canonical SPDI:: NC_000018.10:68700463:A:C,NC_000018.10:68700463:A:G
Gene:: TMX3 (Varview)
Functional Consequence:: stop_gained,intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.68700464A>C, NC_000018.10:g.68700464A>G, NC_000018.9:g.66367701A>C, NC_000018.9:g.66367701A>G, NG_053149.1:g.19835T>G, NG_053149.1:g.19835T>C, NM_019022.5:c.333T>G, NM_019022.5:c.333T>C, NM_019022.4:c.333T>G, NM_019022.4:c.333T>C, NM_019022.3:c.333T>G, NM_019022.3:c.333T>C, NM_001350517.2:c.-91T>G, NM_001350517.2:c.-91T>C, NM_001350517.1:c.-91T>G, NM_001350517.1:c.-91T>C, NM_001350515.2:c.-91T>G, NM_001350515.2:c.-91T>C, NM_001350515.1:c.-91T>G, NM_001350515.1:c.-91T>C, NM_001350512.2:c.333T>G, NM_001350512.2:c.333T>C, NM_001350512.1:c.333T>G, NM_001350512.1:c.333T>C, XM_011526035.4:c.333T>G, XM_011526035.4:c.333T>C, XM_011526035.3:c.333T>G, XM_011526035.3:c.333T>C, XM_011526035.2:c.333T>G, XM_011526035.2:c.333T>C, XM_011526035.1:c.333T>G, XM_011526035.1:c.333T>C, XM_011526034.4:c.333T>G, XM_011526034.4:c.333T>C, XM_011526034.3:c.333T>G, XM_011526034.3:c.333T>C, XM_011526034.2:c.333T>G, XM_011526034.2:c.333T>C, XM_011526034.1:c.333T>G, XM_011526034.1:c.333T>C, XR_935227.3:n.460T>G, XR_935227.3:n.460T>C, XR_935227.2:n.464T>G, XR_935227.2:n.464T>C, XR_935227.1:n.460T>G, XR_935227.1:n.460T>C, NP_061895.3:p.Tyr111Ter, NP_001337441.1:p.Tyr111Ter, XP_011524337.1:p.Tyr111Ter, XP_011524336.1:p.Tyr111Ter

Select item 147124960715.

rs1471249607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:68698030 (GRCh38)
18:66365267 (GRCh37)
Canonical SPDI:: NC_000018.10:68698029:C:T
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_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_000018.10:g.68698030C>T, NC_000018.9:g.66365267C>T, NG_053149.1:g.22269G>A, NM_019022.5:c.394G>A, NM_019022.4:c.394G>A, NM_019022.3:c.394G>A, NM_001350517.2:c.-30G>A, NM_001350517.1:c.-30G>A, NM_001350515.2:c.-30G>A, NM_001350515.1:c.-30G>A, NM_001350514.2:c.313G>A, NM_001350514.1:c.313G>A, NM_001350516.2:c.-30G>A, NM_001350516.1:c.-30G>A, NM_001350512.2:c.394G>A, NM_001350512.1:c.394G>A, NM_001350513.2:c.313G>A, NM_001350513.1:c.313G>A, XM_011526035.4:c.394G>A, XM_011526035.3:c.394G>A, XM_011526035.2:c.394G>A, XM_011526035.1:c.394G>A, XM_011526034.4:c.394G>A, XM_011526034.3:c.394G>A, XM_011526034.2:c.394G>A, XM_011526034.1:c.394G>A, XR_935227.3:n.521G>A, XR_935227.2:n.525G>A, XR_935227.1:n.521G>A, NP_061895.3:p.Ala132Thr, NP_001337443.1:p.Ala105Thr, NP_001337441.1:p.Ala132Thr, NP_001337442.1:p.Ala105Thr, XP_011524337.1:p.Ala132Thr, XP_011524336.1:p.Ala132Thr

Select item 146925725016.

rs1469257250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:68697257 (GRCh38)
18:66364494 (GRCh37)
Canonical SPDI:: NC_000018.10:68697256:A:T
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.68697257A>T, NC_000018.9:g.66364494A>T, NG_053149.1:g.23042T>A, NM_019022.5:c.539T>A, NM_019022.4:c.539T>A, NM_019022.3:c.539T>A, NM_001350517.2:c.116T>A, NM_001350517.1:c.116T>A, NM_001350515.2:c.116T>A, NM_001350515.1:c.116T>A, NM_001350514.2:c.458T>A, NM_001350514.1:c.458T>A, NM_001350516.2:c.116T>A, NM_001350516.1:c.116T>A, NM_001350512.2:c.539T>A, NM_001350512.1:c.539T>A, NM_001350513.2:c.458T>A, NM_001350513.1:c.458T>A, XM_011526035.4:c.539T>A, XM_011526035.3:c.539T>A, XM_011526035.2:c.539T>A, XM_011526035.1:c.539T>A, XM_011526034.4:c.539T>A, XM_011526034.3:c.539T>A, XM_011526034.2:c.539T>A, XM_011526034.1:c.539T>A, XR_935227.3:n.666T>A, XR_935227.2:n.670T>A, XR_935227.1:n.666T>A, NP_061895.3:p.Phe180Tyr, NP_001337446.1:p.Phe39Tyr, NP_001337444.1:p.Phe39Tyr, NP_001337443.1:p.Phe153Tyr, NP_001337445.1:p.Phe39Tyr, NP_001337441.1:p.Phe180Tyr, NP_001337442.1:p.Phe153Tyr, XP_011524337.1:p.Phe180Tyr, XP_011524336.1:p.Phe180Tyr

Select item 146895205017.

rs1468952050 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 18:68711384 (GRCh38)
18:66378621 (GRCh37)
Canonical SPDI:: NC_000018.10:68711379:TCATCAT:TCAT
Gene:: TMX3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCAT=0./0 (ALFA)
HGVS:: NC_000018.10:g.68711381CAT[1], NC_000018.9:g.66378618CAT[1], NG_053149.1:g.8914TGA[1], NM_019022.5:c.120TGA[1], NM_019022.4:c.120TGA[1], NM_019022.3:c.120TGA[1], NM_001350517.2:c.-356TGA[1], NM_001350517.1:c.-356TGA[1], NM_001350515.2:c.-258TGA[1], NM_001350515.1:c.-258TGA[1], NM_001350514.2:c.120TGA[1], NM_001350514.1:c.120TGA[1], NM_001350516.2:c.-177TGA[1], NM_001350516.1:c.-177TGA[1], NM_001350512.2:c.120TGA[1], NM_001350512.1:c.120TGA[1], NM_001350513.2:c.120TGA[1], NM_001350513.1:c.120TGA[1], XM_011526035.4:c.120TGA[1], XM_011526035.3:c.120TGA[1], XM_011526035.2:c.120TGA[1], XM_011526035.1:c.120TGA[1], XM_011526034.4:c.120TGA[1], XM_011526034.3:c.120TGA[1], XM_011526034.2:c.120TGA[1], XM_011526034.1:c.120TGA[1], XR_935227.3:n.247TGA[1], XR_935227.2:n.251TGA[1], XR_935227.1:n.247TGA[1], NP_061895.3:p.Asp42del, NP_001337443.1:p.Asp42del, NP_001337441.1:p.Asp42del, NP_001337442.1:p.Asp42del, XP_011524337.1:p.Asp42del, XP_011524336.1:p.Asp42del

Select item 146852250018.

rs1468522500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 18:68697244 (GRCh38)
18:66364481 (GRCh37)
Canonical SPDI:: NC_000018.10:68697243:T:C,NC_000018.10:68697243:T:G
Gene:: TMX3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.68697244T>C, NC_000018.10:g.68697244T>G, NC_000018.9:g.66364481T>C, NC_000018.9:g.66364481T>G, NG_053149.1:g.23055A>G, NG_053149.1:g.23055A>C, NM_019022.5:c.552A>G, NM_019022.5:c.552A>C, NM_019022.4:c.552A>G, NM_019022.4:c.552A>C, NM_019022.3:c.552A>G, NM_019022.3:c.552A>C, NM_001350517.2:c.129A>G, NM_001350517.2:c.129A>C, NM_001350517.1:c.129A>G, NM_001350517.1:c.129A>C, NM_001350515.2:c.129A>G, NM_001350515.2:c.129A>C, NM_001350515.1:c.129A>G, NM_001350515.1:c.129A>C, NM_001350514.2:c.471A>G, NM_001350514.2:c.471A>C, NM_001350514.1:c.471A>G, NM_001350514.1:c.471A>C, NM_001350516.2:c.129A>G, NM_001350516.2:c.129A>C, NM_001350516.1:c.129A>G, NM_001350516.1:c.129A>C, NM_001350512.2:c.552A>G, NM_001350512.2:c.552A>C, NM_001350512.1:c.552A>G, NM_001350512.1:c.552A>C, NM_001350513.2:c.471A>G, NM_001350513.2:c.471A>C, NM_001350513.1:c.471A>G, NM_001350513.1:c.471A>C, XM_011526035.4:c.552A>G, XM_011526035.4:c.552A>C, XM_011526035.3:c.552A>G, XM_011526035.3:c.552A>C, XM_011526035.2:c.552A>G, XM_011526035.2:c.552A>C, XM_011526035.1:c.552A>G, XM_011526035.1:c.552A>C, XM_011526034.4:c.552A>G, XM_011526034.4:c.552A>C, XM_011526034.3:c.552A>G, XM_011526034.3:c.552A>C, XM_011526034.2:c.552A>G, XM_011526034.2:c.552A>C, XM_011526034.1:c.552A>G, XM_011526034.1:c.552A>C, XR_935227.3:n.679A>G, XR_935227.3:n.679A>C, XR_935227.2:n.683A>G, XR_935227.2:n.683A>C, XR_935227.1:n.679A>G, XR_935227.1:n.679A>C

Select item 146757241419.

rs1467572414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:68687746 (GRCh38)
18:66354983 (GRCh37)
Canonical SPDI:: NC_000018.10:68687745:C:T
Gene:: TMX3 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000018.10:g.68687746C>T, NC_000018.9:g.66354983C>T, NG_053149.1:g.32553G>A, NM_019022.5:c.657G>A, NM_019022.4:c.657G>A, NM_019022.3:c.657G>A, NM_001350517.2:c.234G>A, NM_001350517.1:c.234G>A, NM_001350515.2:c.234G>A, NM_001350515.1:c.234G>A, NM_001350514.2:c.576G>A, NM_001350514.1:c.576G>A, NM_001350516.2:c.234G>A, NM_001350516.1:c.234G>A, XR_935227.3:n.784G>A, XR_935227.2:n.788G>A, XR_935227.1:n.784G>A

Select item 146452062720.

rs1464520627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:68710117 (GRCh38)
18:66377354 (GRCh37)
Canonical SPDI:: NC_000018.10:68710116:T:C
Gene:: TMX3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000895/4 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000018.10:g.68710117T>C, NC_000018.9:g.66377354T>C, NG_053149.1:g.10182A>G, NM_019022.5:c.169A>G, NM_019022.4:c.169A>G, NM_019022.3:c.169A>G, NM_001350517.2:c.-307A>G, NM_001350517.1:c.-307A>G, NM_001350515.2:c.-209A>G, NM_001350515.1:c.-209A>G, NM_001350514.2:c.169A>G, NM_001350514.1:c.169A>G, NM_001350516.2:c.-128A>G, NM_001350516.1:c.-128A>G, NM_001350512.2:c.169A>G, NM_001350512.1:c.169A>G, NM_001350513.2:c.169A>G, NM_001350513.1:c.169A>G, XM_011526035.4:c.169A>G, XM_011526035.3:c.169A>G, XM_011526035.2:c.169A>G, XM_011526035.1:c.169A>G, XM_011526034.4:c.169A>G, XM_011526034.3:c.169A>G, XM_011526034.2:c.169A>G, XM_011526034.1:c.169A>G, XR_935227.3:n.296A>G, XR_935227.2:n.300A>G, XR_935227.1:n.296A>G, NP_061895.3:p.Lys57Glu, NP_001337443.1:p.Lys57Glu, NP_001337441.1:p.Lys57Glu, NP_001337442.1:p.Lys57Glu, XP_011524337.1:p.Lys57Glu, XP_011524336.1:p.Lys57Glu

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