SNP Links for Protein (Select 528524479) - SNP

Links from Protein

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Select item 14829416621.

rs1482941662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16382087 (GRCh38)
17:16285401 (GRCh37)
Canonical SPDI:: NC_000017.11:16382086:C:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.16382087C>T, NC_000017.10:g.16285401C>T, NG_023320.1:g.6035C>T, NM_018955.4:c.180C>T, NM_018955.3:c.180C>T, NM_018955.2:c.180C>T, NM_001281716.2:c.180C>T, NM_001281716.1:c.180C>T, NM_001281720.2:c.180C>T, NM_001281720.1:c.180C>T, NM_001281717.1:c.180C>T, NM_001281718.1:c.180C>T, NM_001281719.1:c.180C>T

Select item 14826808572.

rs1482680857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:16382526 (GRCh38)
17:16285840 (GRCh37)
Canonical SPDI:: NC_000017.11:16382525:A:C,NC_000017.11:16382525:A:T
Gene:: UBB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
C=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.16382526A>C, NC_000017.11:g.16382526A>T, NC_000017.10:g.16285840A>C, NC_000017.10:g.16285840A>T, NG_023320.1:g.6474A>C, NG_023320.1:g.6474A>T, NM_018955.4:c.619A>C, NM_018955.4:c.619A>T, NM_018955.3:c.619A>C, NM_018955.3:c.619A>T, NM_018955.2:c.619A>C, NM_018955.2:c.619A>T, NM_001281716.2:c.619A>C, NM_001281716.2:c.619A>T, NM_001281716.1:c.619A>C, NM_001281716.1:c.619A>T, NM_001281720.2:c.619A>C, NM_001281720.2:c.619A>T, NM_001281720.1:c.619A>C, NM_001281720.1:c.619A>T, NM_001281717.1:c.619A>C, NM_001281717.1:c.619A>T, NM_001281718.1:c.619A>C, NM_001281718.1:c.619A>T, NM_001281719.1:c.619A>C, NM_001281719.1:c.619A>T, NP_061828.1:p.Thr207Pro, NP_061828.1:p.Thr207Ser, NP_001268645.1:p.Thr207Pro, NP_001268645.1:p.Thr207Ser, NP_001268649.1:p.Thr207Pro, NP_001268649.1:p.Thr207Ser, NP_001268646.1:p.Thr207Pro, NP_001268646.1:p.Thr207Ser, NP_001268647.1:p.Thr207Pro, NP_001268647.1:p.Thr207Ser, NP_001268648.1:p.Thr207Pro, NP_001268648.1:p.Thr207Ser

Select item 14823818153.

rs1482381815 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:16382083 (GRCh38)
17:16285398 (GRCh37)
Canonical SPDI:: NC_000017.11:16382083:C:CC
Gene:: UBB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16382084dup, NC_000017.10:g.16285398dup, NG_023320.1:g.6032dup, NM_018955.4:c.177dup, NM_018955.3:c.177dup, NM_018955.2:c.177dup, NM_001281716.2:c.177dup, NM_001281716.1:c.177dup, NM_001281720.2:c.177dup, NM_001281720.1:c.177dup, NM_001281717.1:c.177dup, NM_001281718.1:c.177dup, NM_001281719.1:c.177dup, NP_061828.1:p.Asn60fs, NP_001268645.1:p.Asn60fs, NP_001268649.1:p.Asn60fs, NP_001268646.1:p.Asn60fs, NP_001268647.1:p.Asn60fs, NP_001268648.1:p.Asn60fs

Select item 14819036074.

rs1481903607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16382173 (GRCh38)
17:16285487 (GRCh37)
Canonical SPDI:: NC_000017.11:16382172:T:C
Gene:: UBB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.16382173T>C, NC_000017.10:g.16285487T>C, NG_023320.1:g.6121T>C, NM_018955.4:c.266T>C, NM_018955.3:c.266T>C, NM_018955.2:c.266T>C, NM_001281716.2:c.266T>C, NM_001281716.1:c.266T>C, NM_001281720.2:c.266T>C, NM_001281720.1:c.266T>C, NM_001281717.1:c.266T>C, NM_001281718.1:c.266T>C, NM_001281719.1:c.266T>C, NP_061828.1:p.Ile89Thr, NP_001268645.1:p.Ile89Thr, NP_001268649.1:p.Ile89Thr, NP_001268646.1:p.Ile89Thr, NP_001268647.1:p.Ile89Thr, NP_001268648.1:p.Ile89Thr

Select item 14768567355.

rs1476856735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16382543 (GRCh38)
17:16285857 (GRCh37)
Canonical SPDI:: NC_000017.11:16382542:C:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16382543C>T, NC_000017.10:g.16285857C>T, NG_023320.1:g.6491C>T, NM_018955.4:c.636C>T, NM_018955.3:c.636C>T, NM_018955.2:c.636C>T, NM_001281716.2:c.636C>T, NM_001281716.1:c.636C>T, NM_001281720.2:c.636C>T, NM_001281720.1:c.636C>T, NM_001281717.1:c.636C>T, NM_001281718.1:c.636C>T, NM_001281719.1:c.636C>T

Select item 14735788846.

rs1473578884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16382096 (GRCh38)
17:16285410 (GRCh37)
Canonical SPDI:: NC_000017.11:16382095:G:A
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/4 (GnomAD)
A=0.002478/42 (TOMMO)
HGVS:: NC_000017.11:g.16382096G>A, NC_000017.10:g.16285410G>A, NG_023320.1:g.6044G>A, NM_018955.4:c.189G>A, NM_018955.3:c.189G>A, NM_018955.2:c.189G>A, NM_001281716.2:c.189G>A, NM_001281716.1:c.189G>A, NM_001281720.2:c.189G>A, NM_001281720.1:c.189G>A, NM_001281717.1:c.189G>A, NM_001281718.1:c.189G>A, NM_001281719.1:c.189G>A

Select item 14725490237.

rs1472549023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16381937 (GRCh38)
17:16285251 (GRCh37)
Canonical SPDI:: NC_000017.11:16381936:C:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.16381937C>T, NC_000017.10:g.16285251C>T, NG_023320.1:g.5885C>T, NM_018955.4:c.30C>T, NM_018955.3:c.30C>T, NM_018955.2:c.30C>T, NM_001281716.2:c.30C>T, NM_001281716.1:c.30C>T, NM_001281720.2:c.30C>T, NM_001281720.1:c.30C>T, NM_001281717.1:c.30C>T, NM_001281718.1:c.30C>T, NM_001281719.1:c.30C>T

Select item 14685218758.

rs1468521875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:16381972 (GRCh38)
17:16285286 (GRCh37)
Canonical SPDI:: NC_000017.11:16381971:C:G
Gene:: UBB (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16381972C>G, NC_000017.10:g.16285286C>G, NG_023320.1:g.5920C>G, NM_018955.4:c.65C>G, NM_018955.3:c.65C>G, NM_018955.2:c.65C>G, NM_001281716.2:c.65C>G, NM_001281716.1:c.65C>G, NM_001281720.2:c.65C>G, NM_001281720.1:c.65C>G, NM_001281717.1:c.65C>G, NM_001281718.1:c.65C>G, NM_001281719.1:c.65C>G, NP_061828.1:p.Thr22Ser, NP_001268645.1:p.Thr22Ser, NP_001268649.1:p.Thr22Ser, NP_001268646.1:p.Thr22Ser, NP_001268647.1:p.Thr22Ser, NP_001268648.1:p.Thr22Ser

Select item 14662747139.

rs1466274713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16382478 (GRCh38)
17:16285792 (GRCh37)
Canonical SPDI:: NC_000017.11:16382477:G:A
Gene:: UBB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD)
A=0.000212/4 (TOMMO)
HGVS:: NC_000017.11:g.16382478G>A, NC_000017.10:g.16285792G>A, NG_023320.1:g.6426G>A, NM_018955.4:c.571G>A, NM_018955.3:c.571G>A, NM_018955.2:c.571G>A, NM_001281716.2:c.571G>A, NM_001281716.1:c.571G>A, NM_001281720.2:c.571G>A, NM_001281720.1:c.571G>A, NM_001281717.1:c.571G>A, NM_001281718.1:c.571G>A, NM_001281719.1:c.571G>A, NP_061828.1:p.Asp191Asn, NP_001268645.1:p.Asp191Asn, NP_001268649.1:p.Asp191Asn, NP_001268646.1:p.Asp191Asn, NP_001268647.1:p.Asp191Asn, NP_001268648.1:p.Asp191Asn

Select item 146595718810.

rs1465957188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16382270 (GRCh38)
17:16285584 (GRCh37)
Canonical SPDI:: NC_000017.11:16382269:T:C
Gene:: UBB (Varview)
Functional Consequence:: synonymous_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_000017.11:g.16382270T>C, NC_000017.10:g.16285584T>C, NG_023320.1:g.6218T>C, NM_018955.4:c.363T>C, NM_018955.3:c.363T>C, NM_018955.2:c.363T>C, NM_001281716.2:c.363T>C, NM_001281716.1:c.363T>C, NM_001281720.2:c.363T>C, NM_001281720.1:c.363T>C, NM_001281717.1:c.363T>C, NM_001281718.1:c.363T>C, NM_001281719.1:c.363T>C

Select item 145307160111.

rs1453071601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:16381985 (GRCh38)
17:16285299 (GRCh37)
Canonical SPDI:: NC_000017.11:16381984:G:A,NC_000017.11:16381984:G:C,NC_000017.11:16381984:G:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.16381985G>A, NC_000017.11:g.16381985G>C, NC_000017.11:g.16381985G>T, NC_000017.10:g.16285299G>A, NC_000017.10:g.16285299G>C, NC_000017.10:g.16285299G>T, NG_023320.1:g.5933G>A, NG_023320.1:g.5933G>C, NG_023320.1:g.5933G>T, NM_018955.4:c.78G>A, NM_018955.4:c.78G>C, NM_018955.4:c.78G>T, NM_018955.3:c.78G>A, NM_018955.3:c.78G>C, NM_018955.3:c.78G>T, NM_018955.2:c.78G>A, NM_018955.2:c.78G>C, NM_018955.2:c.78G>T, NM_001281716.2:c.78G>A, NM_001281716.2:c.78G>C, NM_001281716.2:c.78G>T, NM_001281716.1:c.78G>A, NM_001281716.1:c.78G>C, NM_001281716.1:c.78G>T, NM_001281720.2:c.78G>A, NM_001281720.2:c.78G>C, NM_001281720.2:c.78G>T, NM_001281720.1:c.78G>A, NM_001281720.1:c.78G>C, NM_001281720.1:c.78G>T, NM_001281717.1:c.78G>A, NM_001281717.1:c.78G>C, NM_001281717.1:c.78G>T, NM_001281718.1:c.78G>A, NM_001281718.1:c.78G>C, NM_001281718.1:c.78G>T, NM_001281719.1:c.78G>A, NM_001281719.1:c.78G>C, NM_001281719.1:c.78G>T

Select item 145278370512.

rs1452783705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16381940 (GRCh38)
17:16285254 (GRCh37)
Canonical SPDI:: NC_000017.11:16381939:G:A
Gene:: UBB (Varview)
Functional Consequence:: synonymous_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_000017.11:g.16381940G>A, NC_000017.10:g.16285254G>A, NG_023320.1:g.5888G>A, NM_018955.4:c.33G>A, NM_018955.3:c.33G>A, NM_018955.2:c.33G>A, NM_001281716.2:c.33G>A, NM_001281716.1:c.33G>A, NM_001281720.2:c.33G>A, NM_001281720.1:c.33G>A, NM_001281717.1:c.33G>A, NM_001281718.1:c.33G>A, NM_001281719.1:c.33G>A

Select item 145101565013.

rs1451015650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16382118 (GRCh38)
17:16285432 (GRCh37)
Canonical SPDI:: NC_000017.11:16382117:C:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16382118C>T, NC_000017.10:g.16285432C>T, NG_023320.1:g.6066C>T, NM_018955.4:c.211C>T, NM_018955.3:c.211C>T, NM_018955.2:c.211C>T, NM_001281716.2:c.211C>T, NM_001281716.1:c.211C>T, NM_001281720.2:c.211C>T, NM_001281720.1:c.211C>T, NM_001281717.1:c.211C>T, NM_001281718.1:c.211C>T, NM_001281719.1:c.211C>T

Select item 144637054314.

rs1446370543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16382406 (GRCh38)
17:16285720 (GRCh37)
Canonical SPDI:: NC_000017.11:16382405:C:T
Gene:: UBB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16382406C>T, NC_000017.10:g.16285720C>T, NG_023320.1:g.6354C>T, NM_018955.4:c.499C>T, NM_018955.3:c.499C>T, NM_018955.2:c.499C>T, NM_001281716.2:c.499C>T, NM_001281716.1:c.499C>T, NM_001281720.2:c.499C>T, NM_001281720.1:c.499C>T, NM_001281717.1:c.499C>T, NM_001281718.1:c.499C>T, NM_001281719.1:c.499C>T

Select item 143402315115.

rs1434023151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:16382181 (GRCh38)
17:16285495 (GRCh37)
Canonical SPDI:: NC_000017.11:16382180:G:T
Gene:: UBB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16382181G>T, NC_000017.10:g.16285495G>T, NG_023320.1:g.6129G>T, NM_018955.4:c.274G>T, NM_018955.3:c.274G>T, NM_018955.2:c.274G>T, NM_001281716.2:c.274G>T, NM_001281716.1:c.274G>T, NM_001281720.2:c.274G>T, NM_001281720.1:c.274G>T, NM_001281717.1:c.274G>T, NM_001281718.1:c.274G>T, NM_001281719.1:c.274G>T, NP_061828.1:p.Glu92Ter, NP_001268645.1:p.Glu92Ter, NP_001268649.1:p.Glu92Ter, NP_001268646.1:p.Glu92Ter, NP_001268647.1:p.Glu92Ter, NP_001268648.1:p.Glu92Ter

Select item 142510590716.

rs1425105907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:16382180 (GRCh38)
17:16285494 (GRCh37)
Canonical SPDI:: NC_000017.11:16382179:G:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00067/8 (ALFA)
T=0.00018/3 (TOMMO)
T=0.01506/44 (KOREAN)
HGVS:: NC_000017.11:g.16382180G>T, NC_000017.10:g.16285494G>T, NG_023320.1:g.6128G>T, NM_018955.4:c.273G>T, NM_018955.3:c.273G>T, NM_018955.2:c.273G>T, NM_001281716.2:c.273G>T, NM_001281716.1:c.273G>T, NM_001281720.2:c.273G>T, NM_001281720.1:c.273G>T, NM_001281717.1:c.273G>T, NM_001281718.1:c.273G>T, NM_001281719.1:c.273G>T

Select item 141993221717.

rs1419932217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:16382294 (GRCh38)
17:16285608 (GRCh37)
Canonical SPDI:: NC_000017.11:16382293:C:A,NC_000017.11:16382293:C:T
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16382294C>A, NC_000017.11:g.16382294C>T, NC_000017.10:g.16285608C>A, NC_000017.10:g.16285608C>T, NG_023320.1:g.6242C>A, NG_023320.1:g.6242C>T, NM_018955.4:c.387C>A, NM_018955.4:c.387C>T, NM_018955.3:c.387C>A, NM_018955.3:c.387C>T, NM_018955.2:c.387C>A, NM_018955.2:c.387C>T, NM_001281716.2:c.387C>A, NM_001281716.2:c.387C>T, NM_001281716.1:c.387C>A, NM_001281716.1:c.387C>T, NM_001281720.2:c.387C>A, NM_001281720.2:c.387C>T, NM_001281720.1:c.387C>A, NM_001281720.1:c.387C>T, NM_001281717.1:c.387C>A, NM_001281717.1:c.387C>T, NM_001281718.1:c.387C>A, NM_001281718.1:c.387C>T, NM_001281719.1:c.387C>A, NM_001281719.1:c.387C>T

Select item 141411917318.

rs1414119173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:16382523 (GRCh38)
17:16285837 (GRCh37)
Canonical SPDI:: NC_000017.11:16382522:C:G
Gene:: UBB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.16382523C>G, NC_000017.10:g.16285837C>G, NG_023320.1:g.6471C>G, NM_018955.4:c.616C>G, NM_018955.3:c.616C>G, NM_018955.2:c.616C>G, NM_001281716.2:c.616C>G, NM_001281716.1:c.616C>G, NM_001281720.2:c.616C>G, NM_001281720.1:c.616C>G, NM_001281717.1:c.616C>G, NM_001281718.1:c.616C>G, NM_001281719.1:c.616C>G, NP_061828.1:p.Arg206Gly, NP_001268645.1:p.Arg206Gly, NP_001268649.1:p.Arg206Gly, NP_001268646.1:p.Arg206Gly, NP_001268647.1:p.Arg206Gly, NP_001268648.1:p.Arg206Gly

Select item 141306157719.

rs1413061577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:16382378 (GRCh38)
17:16285692 (GRCh37)
Canonical SPDI:: NC_000017.11:16382377:G:C
Gene:: UBB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.16382378G>C, NC_000017.10:g.16285692G>C, NG_023320.1:g.6326G>C, NM_018955.4:c.471G>C, NM_018955.3:c.471G>C, NM_018955.2:c.471G>C, NM_001281716.2:c.471G>C, NM_001281716.1:c.471G>C, NM_001281720.2:c.471G>C, NM_001281720.1:c.471G>C, NM_001281717.1:c.471G>C, NM_001281718.1:c.471G>C, NM_001281719.1:c.471G>C

Select item 141238051320.

rs1412380513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:16382463 (GRCh38)
17:16285777 (GRCh37)
Canonical SPDI:: NC_000017.11:16382462:G:T
Gene:: UBB (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16382463G>T, NC_000017.10:g.16285777G>T, NG_023320.1:g.6411G>T, NM_018955.4:c.556G>T, NM_018955.3:c.556G>T, NM_018955.2:c.556G>T, NM_001281716.2:c.556G>T, NM_001281716.1:c.556G>T, NM_001281720.2:c.556G>T, NM_001281720.1:c.556G>T, NM_001281717.1:c.556G>T, NM_001281718.1:c.556G>T, NM_001281719.1:c.556G>T, NP_061828.1:p.Glu186Ter, NP_001268645.1:p.Glu186Ter, NP_001268649.1:p.Glu186Ter, NP_001268646.1:p.Glu186Ter, NP_001268647.1:p.Glu186Ter, NP_001268648.1:p.Glu186Ter

dbSNP

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