SNP Links for Protein (Select 742068545) - SNP

Links from Protein

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Select item 14902514841.

rs1490251484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:188098228 (GRCh38)
4:189019382 (GRCh37)
Canonical SPDI:: NC_000004.12:188098227:A:G
Gene:: TRIML2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.188098228A>G, NC_000004.11:g.189019382A>G, XM_047449767.1:c.673T>C, NM_001303419.1:c.673T>C, XP_047305723.1:p.Cys225Arg, NP_001290348.1:p.Cys225Arg

Select item 14902453912.

rs1490245391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:188091735 (GRCh38)
4:189012889 (GRCh37)
Canonical SPDI:: NC_000004.12:188091734:C:T
Gene:: TRIML2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188091735C>T, NC_000004.11:g.189012889C>T, NM_173553.4:c.952G>A, NM_173553.3:c.952G>A, NM_173553.2:c.952G>A, NM_173553.1:c.802G>A, XM_011531738.3:c.952G>A, XM_011531738.2:c.952G>A, XM_011531738.1:c.952G>A, XM_011531737.3:c.952G>A, XM_011531737.2:c.952G>A, XM_011531737.1:c.952G>A, XM_011531739.2:c.676G>A, XM_011531739.1:c.676G>A, XM_047449767.1:c.1027G>A, NM_001303419.1:c.1027G>A, NP_775824.2:p.Val318Met, XP_011530040.1:p.Val318Met, XP_011530039.1:p.Val318Met, XP_011530041.1:p.Val226Met, XP_047305723.1:p.Val343Met, NP_001290348.1:p.Val343Met

Select item 14883647013.

rs1488364701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:188091508 (GRCh38)
4:189012662 (GRCh37)
Canonical SPDI:: NC_000004.12:188091507:G:A
Gene:: TRIML2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.188091508G>A, NC_000004.11:g.189012662G>A, NM_173553.4:c.1179C>T, NM_173553.3:c.1179C>T, NM_173553.2:c.1179C>T, NM_173553.1:c.1029C>T, XM_011531738.3:c.1179C>T, XM_011531738.2:c.1179C>T, XM_011531738.1:c.1179C>T, XM_011531737.3:c.1179C>T, XM_011531737.2:c.1179C>T, XM_011531737.1:c.1179C>T, XM_011531739.2:c.903C>T, XM_011531739.1:c.903C>T, XM_047449767.1:c.1254C>T, NM_001303419.1:c.1254C>T

Select item 14875086014.

rs1487508601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:188104897 (GRCh38)
4:189026051 (GRCh37)
Canonical SPDI:: NC_000004.12:188104896:C:G,NC_000004.12:188104896:C:T
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.188104897C>G, NC_000004.12:g.188104897C>T, NC_000004.11:g.189026051C>G, NC_000004.11:g.189026051C>T, NM_173553.4:c.225G>C, NM_173553.4:c.225G>A, NM_173553.3:c.225G>C, NM_173553.3:c.225G>A, NM_173553.2:c.225G>C, NM_173553.2:c.225G>A, NM_173553.1:c.75G>C, NM_173553.1:c.75G>A, XM_011531738.3:c.225G>C, XM_011531738.3:c.225G>A, XM_011531738.2:c.225G>C, XM_011531738.2:c.225G>A, XM_011531738.1:c.225G>C, XM_011531738.1:c.225G>A, XM_011531737.3:c.225G>C, XM_011531737.3:c.225G>A, XM_011531737.2:c.225G>C, XM_011531737.2:c.225G>A, XM_011531737.1:c.225G>C, XM_011531737.1:c.225G>A, XM_011531739.2:c.-75G>C, XM_011531739.2:c.-75G>A, XM_011531739.1:c.-75G>C, XM_011531739.1:c.-75G>A, XM_047449767.1:c.225G>C, XM_047449767.1:c.225G>A, NM_001303419.1:c.225G>C, NM_001303419.1:c.225G>A, XM_047449765.1:c.225G>C, XM_047449765.1:c.225G>A, XM_047449766.1:c.225G>C, XM_047449766.1:c.225G>A, NP_775824.2:p.Glu75Asp, XP_011530040.1:p.Glu75Asp, XP_011530039.1:p.Glu75Asp, XP_047305723.1:p.Glu75Asp, NP_001290348.1:p.Glu75Asp, XP_047305721.1:p.Glu75Asp, XP_047305722.1:p.Glu75Asp

Select item 14874026055.

rs1487402605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:188091390 (GRCh38)
4:189012544 (GRCh37)
Canonical SPDI:: NC_000004.12:188091389:C:T
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.188091390C>T, NC_000004.11:g.189012544C>T, NM_173553.4:c.1297G>A, NM_173553.3:c.1297G>A, NM_173553.2:c.1297G>A, NM_173553.1:c.1147G>A, XM_011531738.3:c.1297G>A, XM_011531738.2:c.1297G>A, XM_011531738.1:c.1297G>A, XM_011531737.3:c.1297G>A, XM_011531737.2:c.1297G>A, XM_011531737.1:c.1297G>A, XM_011531739.2:c.1021G>A, XM_011531739.1:c.1021G>A, XM_047449767.1:c.1372G>A, NM_001303419.1:c.1372G>A, NP_775824.2:p.Ala433Thr, XP_011530040.1:p.Ala433Thr, XP_011530039.1:p.Ala433Thr, XP_011530041.1:p.Ala341Thr, XP_047305723.1:p.Ala458Thr, NP_001290348.1:p.Ala458Thr

Select item 14843532176.

rs1484353217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:188101209 (GRCh38)
4:189022363 (GRCh37)
Canonical SPDI:: NC_000004.12:188101208:A:G
Gene:: TRIML2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.188101209A>G, NC_000004.11:g.189022363A>G, NM_173553.4:c.327T>C, NM_173553.3:c.327T>C, NM_173553.2:c.327T>C, NM_173553.1:c.177T>C, XM_011531738.3:c.327T>C, XM_011531738.2:c.327T>C, XM_011531738.1:c.327T>C, XM_011531737.3:c.327T>C, XM_011531737.2:c.327T>C, XM_011531737.1:c.327T>C, XM_011531739.2:c.51T>C, XM_011531739.1:c.51T>C, XM_047449767.1:c.327T>C, NM_001303419.1:c.327T>C, XM_047449765.1:c.327T>C, XM_047449766.1:c.327T>C

Select item 14834537577.

rs1483453757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:188105201 (GRCh38)
4:189026355 (GRCh37)
Canonical SPDI:: NC_000004.12:188105200:T:C
Gene:: TRIML2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.188105201T>C, NC_000004.11:g.189026355T>C, NM_173553.4:c.168A>G, NM_173553.3:c.168A>G, NM_173553.2:c.168A>G, NM_173553.1:c.18A>G, XM_011531738.3:c.168A>G, XM_011531738.2:c.168A>G, XM_011531738.1:c.168A>G, XM_011531737.3:c.168A>G, XM_011531737.2:c.168A>G, XM_011531737.1:c.168A>G, XM_047449767.1:c.168A>G, NM_001303419.1:c.168A>G, XM_047449765.1:c.168A>G, XM_047449766.1:c.168A>G

Select item 14822936208.

rs1482293620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:188099124 (GRCh38)
4:189020278 (GRCh37)
Canonical SPDI:: NC_000004.12:188099123:C:T
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.188099124C>T, NC_000004.11:g.189020278C>T, NM_173553.4:c.532G>A, NM_173553.3:c.532G>A, NM_173553.2:c.532G>A, NM_173553.1:c.382G>A, XM_011531738.3:c.532G>A, XM_011531738.2:c.532G>A, XM_011531738.1:c.532G>A, XM_011531737.3:c.532G>A, XM_011531737.2:c.532G>A, XM_011531737.1:c.532G>A, XM_011531739.2:c.256G>A, XM_011531739.1:c.256G>A, XM_047449767.1:c.532G>A, NM_001303419.1:c.532G>A, XM_047449765.1:c.532G>A, XM_047449766.1:c.532G>A, NP_775824.2:p.Ala178Thr, XP_011530040.1:p.Ala178Thr, XP_011530039.1:p.Ala178Thr, XP_011530041.1:p.Ala86Thr, XP_047305723.1:p.Ala178Thr, NP_001290348.1:p.Ala178Thr, XP_047305721.1:p.Ala178Thr, XP_047305722.1:p.Ala178Thr

Select item 14788631619.

rs1478863161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:188105271 (GRCh38)
4:189026425 (GRCh37)
Canonical SPDI:: NC_000004.12:188105270:T:C
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188105271T>C, NC_000004.11:g.189026425T>C, NM_173553.4:c.98A>G, NM_173553.3:c.98A>G, NM_173553.2:c.98A>G, XM_011531738.3:c.98A>G, XM_011531738.2:c.98A>G, XM_011531738.1:c.98A>G, XM_011531737.3:c.98A>G, XM_011531737.2:c.98A>G, XM_011531737.1:c.98A>G, XM_047449767.1:c.98A>G, NM_001303419.1:c.98A>G, XM_047449765.1:c.98A>G, XM_047449766.1:c.98A>G, NP_775824.2:p.Asp33Gly, XP_011530040.1:p.Asp33Gly, XP_011530039.1:p.Asp33Gly, XP_047305723.1:p.Asp33Gly, NP_001290348.1:p.Asp33Gly, XP_047305721.1:p.Asp33Gly, XP_047305722.1:p.Asp33Gly

Select item 147261078410.

rs1472610784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:188099127 (GRCh38)
4:189020281 (GRCh37)
Canonical SPDI:: NC_000004.12:188099126:C:T
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188099127C>T, NC_000004.11:g.189020281C>T, NM_173553.4:c.529G>A, NM_173553.3:c.529G>A, NM_173553.2:c.529G>A, NM_173553.1:c.379G>A, XM_011531738.3:c.529G>A, XM_011531738.2:c.529G>A, XM_011531738.1:c.529G>A, XM_011531737.3:c.529G>A, XM_011531737.2:c.529G>A, XM_011531737.1:c.529G>A, XM_011531739.2:c.253G>A, XM_011531739.1:c.253G>A, XM_047449767.1:c.529G>A, NM_001303419.1:c.529G>A, XM_047449765.1:c.529G>A, XM_047449766.1:c.529G>A, NP_775824.2:p.Glu177Lys, XP_011530040.1:p.Glu177Lys, XP_011530039.1:p.Glu177Lys, XP_011530041.1:p.Glu85Lys, XP_047305723.1:p.Glu177Lys, NP_001290348.1:p.Glu177Lys, XP_047305721.1:p.Glu177Lys, XP_047305722.1:p.Glu177Lys

Select item 147050583011.

rs1470505830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:188105188 (GRCh38)
4:189026342 (GRCh37)
Canonical SPDI:: NC_000004.12:188105187:T:C
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.188105188T>C, NC_000004.11:g.189026342T>C, NM_173553.4:c.181A>G, NM_173553.3:c.181A>G, NM_173553.2:c.181A>G, NM_173553.1:c.31A>G, XM_011531738.3:c.181A>G, XM_011531738.2:c.181A>G, XM_011531738.1:c.181A>G, XM_011531737.3:c.181A>G, XM_011531737.2:c.181A>G, XM_011531737.1:c.181A>G, XM_047449767.1:c.181A>G, NM_001303419.1:c.181A>G, XM_047449765.1:c.181A>G, XM_047449766.1:c.181A>G, NP_775824.2:p.Asn61Asp, XP_011530040.1:p.Asn61Asp, XP_011530039.1:p.Asn61Asp, XP_047305723.1:p.Asn61Asp, NP_001290348.1:p.Asn61Asp, XP_047305721.1:p.Asn61Asp, XP_047305722.1:p.Asn61Asp

Select item 146931863812.

rs1469318638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:188091640 (GRCh38)
4:189012794 (GRCh37)
Canonical SPDI:: NC_000004.12:188091639:C:G
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188091640C>G, NC_000004.11:g.189012794C>G, NM_173553.4:c.1047G>C, NM_173553.3:c.1047G>C, NM_173553.2:c.1047G>C, NM_173553.1:c.897G>C, XM_011531738.3:c.1047G>C, XM_011531738.2:c.1047G>C, XM_011531738.1:c.1047G>C, XM_011531737.3:c.1047G>C, XM_011531737.2:c.1047G>C, XM_011531737.1:c.1047G>C, XM_011531739.2:c.771G>C, XM_011531739.1:c.771G>C, XM_047449767.1:c.1122G>C, NM_001303419.1:c.1122G>C, NP_775824.2:p.Glu349Asp, XP_011530040.1:p.Glu349Asp, XP_011530039.1:p.Glu349Asp, XP_011530041.1:p.Glu257Asp, XP_047305723.1:p.Glu374Asp, NP_001290348.1:p.Glu374Asp

Select item 146929723113.

rs1469297231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:188091917 (GRCh38)
4:189013071 (GRCh37)
Canonical SPDI:: NC_000004.12:188091916:G:A,NC_000004.12:188091916:G:T
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_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)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188091917G>A, NC_000004.12:g.188091917G>T, NC_000004.11:g.189013071G>A, NC_000004.11:g.189013071G>T, NM_173553.4:c.770C>T, NM_173553.4:c.770C>A, NM_173553.3:c.770C>T, NM_173553.3:c.770C>A, NM_173553.2:c.770C>T, NM_173553.2:c.770C>A, NM_173553.1:c.620C>T, NM_173553.1:c.620C>A, XM_011531738.3:c.770C>T, XM_011531738.3:c.770C>A, XM_011531738.2:c.770C>T, XM_011531738.2:c.770C>A, XM_011531738.1:c.770C>T, XM_011531738.1:c.770C>A, XM_011531737.3:c.770C>T, XM_011531737.3:c.770C>A, XM_011531737.2:c.770C>T, XM_011531737.2:c.770C>A, XM_011531737.1:c.770C>T, XM_011531737.1:c.770C>A, XM_011531739.2:c.494C>T, XM_011531739.2:c.494C>A, XM_011531739.1:c.494C>T, XM_011531739.1:c.494C>A, XM_047449767.1:c.845C>T, XM_047449767.1:c.845C>A, NM_001303419.1:c.845C>T, NM_001303419.1:c.845C>A, NP_775824.2:p.Thr257Ile, NP_775824.2:p.Thr257Lys, XP_011530040.1:p.Thr257Ile, XP_011530040.1:p.Thr257Lys, XP_011530039.1:p.Thr257Ile, XP_011530039.1:p.Thr257Lys, XP_011530041.1:p.Thr165Ile, XP_011530041.1:p.Thr165Lys, XP_047305723.1:p.Thr282Ile, XP_047305723.1:p.Thr282Lys, NP_001290348.1:p.Thr282Ile, NP_001290348.1:p.Thr282Lys

Select item 146928748014.

rs1469287480 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGA>- [Show Flanks]
Chromosome:: 4:188091400 (GRCh38)
4:189012554 (GRCh37)
Canonical SPDI:: NC_000004.12:188091397:GAAGGA:GA
Gene:: TRIML2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000004.12:g.188091400_188091403del, NC_000004.11:g.189012554_189012557del, NM_173553.4:c.1286_1289del, NM_173553.3:c.1286_1289del, NM_173553.2:c.1286_1289del, NM_173553.1:c.1136_1139del, XM_011531738.3:c.1286_1289del, XM_011531738.2:c.1286_1289del, XM_011531738.1:c.1286_1289del, XM_011531737.3:c.1286_1289del, XM_011531737.2:c.1286_1289del, XM_011531737.1:c.1286_1289del, XM_011531739.2:c.1010_1013del, XM_011531739.1:c.1010_1013del, XM_047449767.1:c.1361_1364del, NM_001303419.1:c.1361_1364del, NP_775824.2:p.Pro429fs, XP_011530040.1:p.Pro429fs, XP_011530039.1:p.Pro429fs, XP_011530041.1:p.Pro337fs, XP_047305723.1:p.Pro454fs, NP_001290348.1:p.Pro454fs

Select item 146517379615.

rs1465173796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:188101228 (GRCh38)
4:189022382 (GRCh37)
Canonical SPDI:: NC_000004.12:188101227:T:A
Gene:: TRIML2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.188101228T>A, NC_000004.11:g.189022382T>A, NM_173553.4:c.308A>T, NM_173553.3:c.308A>T, NM_173553.2:c.308A>T, NM_173553.1:c.158A>T, XM_011531738.3:c.308A>T, XM_011531738.2:c.308A>T, XM_011531738.1:c.308A>T, XM_011531737.3:c.308A>T, XM_011531737.2:c.308A>T, XM_011531737.1:c.308A>T, XM_011531739.2:c.32A>T, XM_011531739.1:c.32A>T, XM_047449767.1:c.308A>T, NM_001303419.1:c.308A>T, XM_047449765.1:c.308A>T, XM_047449766.1:c.308A>T, NP_775824.2:p.Lys103Met, XP_011530040.1:p.Lys103Met, XP_011530039.1:p.Lys103Met, XP_011530041.1:p.Lys11Met, XP_047305723.1:p.Lys103Met, NP_001290348.1:p.Lys103Met, XP_047305721.1:p.Lys103Met, XP_047305722.1:p.Lys103Met

Select item 146445775816.

rs1464457758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:188104847 (GRCh38)
4:189026001 (GRCh37)
Canonical SPDI:: NC_000004.12:188104846:G:A
Gene:: TRIML2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.188104847G>A, NC_000004.11:g.189026001G>A, NM_173553.4:c.275C>T, NM_173553.3:c.275C>T, NM_173553.2:c.275C>T, NM_173553.1:c.125C>T, XM_011531738.3:c.275C>T, XM_011531738.2:c.275C>T, XM_011531738.1:c.275C>T, XM_011531737.3:c.275C>T, XM_011531737.2:c.275C>T, XM_011531737.1:c.275C>T, XM_011531739.2:c.-25C>T, XM_011531739.1:c.-25C>T, XM_047449767.1:c.275C>T, NM_001303419.1:c.275C>T, XM_047449765.1:c.275C>T, XM_047449766.1:c.275C>T, NP_775824.2:p.Ala92Val, XP_011530040.1:p.Ala92Val, XP_011530039.1:p.Ala92Val, XP_047305723.1:p.Ala92Val, NP_001290348.1:p.Ala92Val, XP_047305721.1:p.Ala92Val, XP_047305722.1:p.Ala92Val

Select item 146271944317.

rs1462719443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:188105253 (GRCh38)
4:189026407 (GRCh37)
Canonical SPDI:: NC_000004.12:188105252:C:T
Gene:: TRIML2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.188105253C>T, NC_000004.11:g.189026407C>T, NM_173553.4:c.116G>A, NM_173553.3:c.116G>A, NM_173553.2:c.116G>A, NM_173553.1:c.-35G>A, XM_011531738.3:c.116G>A, XM_011531738.2:c.116G>A, XM_011531738.1:c.116G>A, XM_011531737.3:c.116G>A, XM_011531737.2:c.116G>A, XM_011531737.1:c.116G>A, XM_047449767.1:c.116G>A, NM_001303419.1:c.116G>A, XM_047449765.1:c.116G>A, XM_047449766.1:c.116G>A, NP_775824.2:p.Ser39Asn, XP_011530040.1:p.Ser39Asn, XP_011530039.1:p.Ser39Asn, XP_047305723.1:p.Ser39Asn, NP_001290348.1:p.Ser39Asn, XP_047305721.1:p.Ser39Asn, XP_047305722.1:p.Ser39Asn

Select item 146052799618.

rs1460527996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:188091621 (GRCh38)
4:189012775 (GRCh37)
Canonical SPDI:: NC_000004.12:188091620:G:C
Gene:: TRIML2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188091621G>C, NC_000004.11:g.189012775G>C, NM_173553.4:c.1066C>G, NM_173553.3:c.1066C>G, NM_173553.2:c.1066C>G, NM_173553.1:c.916C>G, XM_011531738.3:c.1066C>G, XM_011531738.2:c.1066C>G, XM_011531738.1:c.1066C>G, XM_011531737.3:c.1066C>G, XM_011531737.2:c.1066C>G, XM_011531737.1:c.1066C>G, XM_011531739.2:c.790C>G, XM_011531739.1:c.790C>G, XM_047449767.1:c.1141C>G, NM_001303419.1:c.1141C>G, NP_775824.2:p.Pro356Ala, XP_011530040.1:p.Pro356Ala, XP_011530039.1:p.Pro356Ala, XP_011530041.1:p.Pro264Ala, XP_047305723.1:p.Pro381Ala, NP_001290348.1:p.Pro381Ala

Select item 146038990019.

rs1460389900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:188091421 (GRCh38)
4:189012575 (GRCh37)
Canonical SPDI:: NC_000004.12:188091420:G:A
Gene:: TRIML2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188091421G>A, NC_000004.11:g.189012575G>A, NM_173553.4:c.1266C>T, NM_173553.3:c.1266C>T, NM_173553.2:c.1266C>T, NM_173553.1:c.1116C>T, XM_011531738.3:c.1266C>T, XM_011531738.2:c.1266C>T, XM_011531738.1:c.1266C>T, XM_011531737.3:c.1266C>T, XM_011531737.2:c.1266C>T, XM_011531737.1:c.1266C>T, XM_011531739.2:c.990C>T, XM_011531739.1:c.990C>T, XM_047449767.1:c.1341C>T, NM_001303419.1:c.1341C>T

Select item 145609389020.

rs1456093890 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:188101163 (GRCh38)
4:189022317 (GRCh37)
Canonical SPDI:: NC_000004.12:188101162:GG:G
Gene:: TRIML2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.188101164del, NC_000004.11:g.189022318del, NM_173553.4:c.373del, NM_173553.3:c.373del, NM_173553.2:c.373del, NM_173553.1:c.223del, XM_011531738.3:c.373del, XM_011531738.2:c.373del, XM_011531738.1:c.373del, XM_011531737.3:c.373del, XM_011531737.2:c.373del, XM_011531737.1:c.373del, XM_011531739.2:c.97del, XM_011531739.1:c.97del, XM_047449767.1:c.373del, NM_001303419.1:c.373del, XM_047449765.1:c.373del, XM_047449766.1:c.373del, NP_775824.2:p.Gln125fs, XP_011530040.1:p.Gln125fs, XP_011530039.1:p.Gln125fs, XP_011530041.1:p.Gln33fs, XP_047305723.1:p.Gln125fs, NP_001290348.1:p.Gln125fs, XP_047305721.1:p.Gln125fs, XP_047305722.1:p.Gln125fs

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