SNP Links for Protein (Select 355477275) - SNP

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Links from Protein

Items: 1 to 20 of 135

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Select item 14771192831.

rs1477119283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18312700 (GRCh38)
19:18423510 (GRCh37)
Canonical SPDI:: NC_000019.10:18312699:C:T
Gene:: LSM4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18312700C>T, NC_000019.9:g.18423510C>T, NM_012321.5:c.48G>A, NM_012321.4:c.48G>A, NM_001252129.2:c.6G>A, NM_001252129.1:c.6G>A

Select item 14668139182.

rs1466813918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:18307493 (GRCh38)
19:18418303 (GRCh37)
Canonical SPDI:: NC_000019.10:18307492:T:G
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.18307493T>G, NC_000019.9:g.18418303T>G, NM_012321.5:c.391A>C, NM_012321.4:c.391A>C, NM_001252129.2:c.349A>C, NM_001252129.1:c.349A>C, NP_036453.1:p.Lys131Gln, NP_001239058.1:p.Lys117Gln

Select item 14654025453.

rs1465402545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18309687 (GRCh38)
19:18420497 (GRCh37)
Canonical SPDI:: NC_000019.10:18309686:C:T
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.18309687C>T, NC_000019.9:g.18420497C>T, NM_012321.5:c.319G>A, NM_012321.4:c.319G>A, NM_001252129.2:c.277G>A, NM_001252129.1:c.277G>A, NP_036453.1:p.Ala107Thr, NP_001239058.1:p.Ala93Thr

Select item 14631484814.

rs1463148481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18307540 (GRCh38)
19:18418350 (GRCh37)
Canonical SPDI:: NC_000019.10:18307539:C:T
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.18307540C>T, NC_000019.9:g.18418350C>T, NM_012321.5:c.344G>A, NM_012321.4:c.344G>A, NM_001252129.2:c.302G>A, NM_001252129.1:c.302G>A, NP_036453.1:p.Arg115Gln, NP_001239058.1:p.Arg101Gln

Select item 14602692085.

rs1460269208 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 19:18307470 (GRCh38)
19:18418280 (GRCh37)
Canonical SPDI:: NC_000019.10:18307467:TGTTTG:TG
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.18307470_18307473del, NC_000019.9:g.18418280_18418283del, NM_012321.5:c.413_416del, NM_012321.4:c.413_416del, NM_001252129.2:c.371_374del, NM_001252129.1:c.371_374del, NP_036453.1:p.Lys138fs, NP_001239058.1:p.Lys124fs

Select item 14548913966.

rs1454891396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:18309746 (GRCh38)
19:18420556 (GRCh37)
Canonical SPDI:: NC_000019.10:18309745:C:A
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.18309746C>A, NC_000019.9:g.18420556C>A, NM_012321.5:c.260G>T, NM_012321.4:c.260G>T, NM_001252129.2:c.218G>T, NM_001252129.1:c.218G>T, NP_036453.1:p.Gly87Val, NP_001239058.1:p.Gly73Val

Select item 14447653367.

rs1444765336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:18309759 (GRCh38)
19:18420569 (GRCh37)
Canonical SPDI:: NC_000019.10:18309758:C:G
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18309759C>G, NC_000019.9:g.18420569C>G, NM_012321.5:c.247G>C, NM_012321.4:c.247G>C, NM_001252129.2:c.205G>C, NM_001252129.1:c.205G>C, NP_036453.1:p.Val83Leu, NP_001239058.1:p.Val69Leu

Select item 14377479658.

rs1437747965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18307506 (GRCh38)
19:18418316 (GRCh37)
Canonical SPDI:: NC_000019.10:18307505:G:C
Gene:: LSM4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.18307506G>C, NC_000019.9:g.18418316G>C, NM_012321.5:c.378C>G, NM_012321.4:c.378C>G, NM_001252129.2:c.336C>G, NM_001252129.1:c.336C>G

Select item 14223810559.

rs1422381055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18309826 (GRCh38)
19:18420636 (GRCh37)
Canonical SPDI:: NC_000019.10:18309825:G:A
Gene:: LSM4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18309826G>A, NC_000019.9:g.18420636G>A, NM_012321.5:c.180C>T, NM_012321.4:c.180C>T, NM_001252129.2:c.138C>T, NM_001252129.1:c.138C>T

Select item 142088033410.

rs1420880334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:18312649 (GRCh38)
19:18423459 (GRCh37)
Canonical SPDI:: NC_000019.10:18312648:G:T
Gene:: LSM4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18312649G>T, NC_000019.9:g.18423459G>T, NM_012321.5:c.99C>A, NM_012321.4:c.99C>A, NM_001252129.2:c.57C>A, NM_001252129.1:c.57C>A, NP_036453.1:p.Asp33Glu, NP_001239058.1:p.Asp19Glu

Select item 141759848611.

rs1417598486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18307469 (GRCh38)
19:18418279 (GRCh37)
Canonical SPDI:: NC_000019.10:18307468:G:C
Gene:: LSM4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18307469G>C, NC_000019.9:g.18418279G>C, NM_012321.5:c.415C>G, NM_012321.4:c.415C>G, NM_001252129.2:c.373C>G, NM_001252129.1:c.373C>G, NP_036453.1:p.Gln139Glu, NP_001239058.1:p.Gln125Glu

Select item 141522979112.

rs1415229791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18312636 (GRCh38)
19:18423446 (GRCh37)
Canonical SPDI:: NC_000019.10:18312635:T:C
Gene:: LSM4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18312636T>C, NC_000019.9:g.18423446T>C, NM_012321.5:c.112A>G, NM_012321.4:c.112A>G, NM_001252129.2:c.70A>G, NM_001252129.1:c.70A>G, NP_036453.1:p.Ile38Val, NP_001239058.1:p.Ile24Val

Select item 139396149213.

rs1393961492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:18307547 (GRCh38)
19:18418357 (GRCh37)
Canonical SPDI:: NC_000019.10:18307546:C:G
Gene:: LSM4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.18307547C>G, NC_000019.9:g.18418357C>G, NM_012321.5:c.337G>C, NM_012321.4:c.337G>C, NM_001252129.2:c.295G>C, NM_001252129.1:c.295G>C, NP_036453.1:p.Gly113Arg, NP_001239058.1:p.Gly99Arg

Select item 139161220714.

rs1391612207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:18309773 (GRCh38)
19:18420583 (GRCh37)
Canonical SPDI:: NC_000019.10:18309772:A:C
Gene:: LSM4 (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)
HGVS:: NC_000019.10:g.18309773A>C, NC_000019.9:g.18420583A>C, NM_012321.5:c.233T>G, NM_012321.4:c.233T>G, NM_001252129.2:c.191T>G, NM_001252129.1:c.191T>G, NP_036453.1:p.Met78Arg, NP_001239058.1:p.Met64Arg

Select item 139037220015.

rs1390372200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18307552 (GRCh38)
19:18418362 (GRCh37)
Canonical SPDI:: NC_000019.10:18307551:A:G
Gene:: LSM4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.18307552A>G, NC_000019.9:g.18418362A>G, NM_012321.5:c.332T>C, NM_012321.4:c.332T>C, NM_001252129.2:c.290T>C, NM_001252129.1:c.290T>C, NP_036453.1:p.Val111Ala, NP_001239058.1:p.Val97Ala

Select item 138810107316.

rs1388101073 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAGT [Show Flanks]
Chromosome:: 19:18309832 (GRCh38)
19:18420643 (GRCh37)
Canonical SPDI:: NC_000019.10:18309832::AAGT
Gene:: LSM4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAGT=0.000071/1 (ALFA)
AAGT=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.18309832_18309833insAAGT, NC_000019.9:g.18420642_18420643insAAGT, NM_012321.5:c.173_174insACTT, NM_012321.4:c.173_174insACTT, NM_001252129.2:c.131_132insACTT, NM_001252129.1:c.131_132insACTT, NP_036453.1:p.Cys59fs, NP_001239058.1:p.Cys45fs

Select item 138697717517.

rs1386977175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18309765 (GRCh38)
19:18420575 (GRCh37)
Canonical SPDI:: NC_000019.10:18309764:C:T
Gene:: LSM4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.18309765C>T, NC_000019.9:g.18420575C>T, NM_012321.5:c.241G>A, NM_012321.4:c.241G>A, NM_001252129.2:c.199G>A, NM_001252129.1:c.199G>A, NP_036453.1:p.Glu81Lys, NP_001239058.1:p.Glu67Lys

Select item 138546303518.

rs1385463035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:18309713 (GRCh38)
19:18420523 (GRCh37)
Canonical SPDI:: NC_000019.10:18309712:T:G
Gene:: LSM4 (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_000019.10:g.18309713T>G, NC_000019.9:g.18420523T>G, NM_012321.5:c.293A>C, NM_012321.4:c.293A>C, NM_001252129.2:c.251A>C, NM_001252129.1:c.251A>C, NP_036453.1:p.Gln98Pro, NP_001239058.1:p.Gln84Pro

Select item 137707390519.

rs1377073905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:18312690 (GRCh38)
19:18423500 (GRCh37)
Canonical SPDI:: NC_000019.10:18312689:T:A
Gene:: LSM4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18312690T>A, NC_000019.9:g.18423500T>A, NM_012321.5:c.58A>T, NM_012321.4:c.58A>T, NM_001252129.2:c.16A>T, NM_001252129.1:c.16A>T, NP_036453.1:p.Lys20Ter, NP_001239058.1:p.Lys6Ter

Select item 137435897420.

rs1374358974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18309780 (GRCh38)
19:18420590 (GRCh37)
Canonical SPDI:: NC_000019.10:18309779:T:C
Gene:: LSM4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.18309780T>C, NC_000019.9:g.18420590T>C, NM_012321.5:c.226A>G, NM_012321.4:c.226A>G, NM_001252129.2:c.184A>G, NM_001252129.1:c.184A>G, NP_036453.1:p.Ile76Val, NP_001239058.1:p.Ile62Val

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