SNP Links for Protein (Select 11034825) - SNP

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Links from Protein

Items: 1 to 20 of 271

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Select item 14866465571.

rs1486646557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:163516564 (GRCh38)
5:162943570 (GRCh37)
Canonical SPDI:: NC_000005.10:163516563:G:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.163516564G>T, NC_000005.9:g.162943570G>T, NM_013283.5:c.573G>T, NM_013283.4:c.573G>T, NM_182796.2:c.540G>T, NP_037415.1:p.Lys191Asn, NP_877725.1:p.Lys180Asn

Select item 14849242492.

rs1484924249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163512021 (GRCh38)
5:162939027 (GRCh37)
Canonical SPDI:: NC_000005.10:163512020:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.163512021A>G, NC_000005.9:g.162939027A>G, NM_013283.5:c.83A>G, NM_013283.4:c.83A>G, NM_182796.2:c.50A>G, NP_037415.1:p.Asn28Ser, NP_877725.1:p.Asn17Ser

Select item 14840629253.

rs1484062925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163518283 (GRCh38)
5:162945289 (GRCh37)
Canonical SPDI:: NC_000005.10:163518282:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163518283A>T, NC_000005.9:g.162945289A>T, NM_013283.5:c.925A>T, NM_013283.4:c.925A>T, NM_182796.2:c.892A>T, NP_037415.1:p.Thr309Ser, NP_877725.1:p.Thr298Ser

Select item 14827405534.

rs1482740553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:163516539 (GRCh38)
5:162943545 (GRCh37)
Canonical SPDI:: NC_000005.10:163516538:C:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163516539C>T, NC_000005.9:g.162943545C>T, NM_013283.5:c.548C>T, NM_013283.4:c.548C>T, NM_182796.2:c.515C>T, NP_037415.1:p.Pro183Leu, NP_877725.1:p.Pro172Leu

Select item 14820002035.

rs1482000203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:163517620 (GRCh38)
5:162944626 (GRCh37)
Canonical SPDI:: NC_000005.10:163517619:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163517620A>T, NC_000005.9:g.162944626A>T, NM_013283.5:c.780A>T, NM_013283.4:c.780A>T, NM_182796.2:c.747A>T, NP_037415.1:p.Glu260Asp, NP_877725.1:p.Glu249Asp

Select item 14745893376.

rs1474589337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:163512121 (GRCh38)
5:162939127 (GRCh37)
Canonical SPDI:: NC_000005.10:163512120:A:G,NC_000005.10:163512120:A:T
Gene:: MAT2B (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.163512121A>G, NC_000005.10:g.163512121A>T, NC_000005.9:g.162939127A>G, NC_000005.9:g.162939127A>T, NM_013283.5:c.183A>G, NM_013283.5:c.183A>T, NM_013283.4:c.183A>G, NM_013283.4:c.183A>T, NM_182796.2:c.150A>G, NM_182796.2:c.150A>T, NP_037415.1:p.Arg61Ser, NP_877725.1:p.Arg50Ser

Select item 14723702887.

rs1472370288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:163516663 (GRCh38)
5:162943669 (GRCh37)
Canonical SPDI:: NC_000005.10:163516662:C:G
Gene:: MAT2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163516663C>G, NC_000005.9:g.162943669C>G, NM_013283.5:c.672C>G, NM_013283.4:c.672C>G, NM_182796.2:c.639C>G

Select item 14713636748.

rs1471363674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163513950 (GRCh38)
5:162940956 (GRCh37)
Canonical SPDI:: NC_000005.10:163513949:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.163513950A>G, NC_000005.9:g.162940956A>G, NM_013283.5:c.482A>G, NM_013283.4:c.482A>G, NM_182796.2:c.449A>G, NP_037415.1:p.Lys161Arg, NP_877725.1:p.Lys150Arg

Select item 14650522109.

rs1465052210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:163513606 (GRCh38)
5:162940612 (GRCh37)
Canonical SPDI:: NC_000005.10:163513605:A:C
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.163513606A>C, NC_000005.9:g.162940612A>C, NM_013283.5:c.310A>C, NM_013283.4:c.310A>C, NM_182796.2:c.277A>C, NP_037415.1:p.Asn104His, NP_877725.1:p.Asn93His

Select item 146447364010.

rs1464473640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:163512013 (GRCh38)
5:162939019 (GRCh37)
Canonical SPDI:: NC_000005.10:163512012:C:G
Gene:: MAT2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163512013C>G, NC_000005.9:g.162939019C>G, NM_013283.5:c.75C>G, NM_013283.4:c.75C>G, NM_182796.2:c.42C>G, NP_037415.1:p.Asn25Lys, NP_877725.1:p.Asn14Lys

Select item 146227493511.

rs1462274935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:163518303 (GRCh38)
5:162945309 (GRCh37)
Canonical SPDI:: NC_000005.10:163518302:C:A,NC_000005.10:163518302:C:T
Gene:: MAT2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163518303C>A, NC_000005.10:g.163518303C>T, NC_000005.9:g.162945309C>A, NC_000005.9:g.162945309C>T, NM_013283.5:c.945C>A, NM_013283.5:c.945C>T, NM_013283.4:c.945C>A, NM_013283.4:c.945C>T, NM_182796.2:c.912C>A, NM_182796.2:c.912C>T

Select item 146119349312.

rs1461193493 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:163518317 (GRCh38)
5:162945323 (GRCh37)
Canonical SPDI:: NC_000005.10:163518316:GG:G
Gene:: MAT2B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.163518318del, NC_000005.9:g.162945324del, NM_013283.5:c.960del, NM_013283.4:c.960del, NM_182796.2:c.927del, NP_037415.1:p.Trp320fs, NP_877725.1:p.Trp309fs

Select item 145383272013.

rs1453832720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAAAA [Show Flanks]
Chromosome:: 5:163516702 (GRCh38)
5:162943709 (GRCh37)
Canonical SPDI:: NC_000005.10:163516702:A:AATAAAA
Gene:: MAT2B (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
HGVS:: NC_000005.10:g.163516703_163516704insATAAAA, NC_000005.9:g.162943709_162943710insATAAAA, NM_013283.5:c.712_713insATAAAA, NM_013283.4:c.712_713insATAAAA, NM_182796.2:c.679_680insATAAAA, NP_037415.1:p.Arg238_Met239insAsnLys, NP_877725.1:p.Arg227_Met228insAsnLys

Select item 145242337014.

rs1452423370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:163512051 (GRCh38)
5:162939057 (GRCh37)
Canonical SPDI:: NC_000005.10:163512050:G:A
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.163512051G>A, NC_000005.9:g.162939057G>A, NM_013283.5:c.113G>A, NM_013283.4:c.113G>A, NM_182796.2:c.80G>A, NP_037415.1:p.Gly38Glu, NP_877725.1:p.Gly27Glu

Select item 145084183715.

rs1450841837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163518271 (GRCh38)
5:162945277 (GRCh37)
Canonical SPDI:: NC_000005.10:163518270:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163518271A>G, NC_000005.9:g.162945277A>G, NM_013283.5:c.913A>G, NM_013283.4:c.913A>G, NM_182796.2:c.880A>G, NP_037415.1:p.Ile305Val, NP_877725.1:p.Ile294Val

Select item 144801953216.

rs1448019532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:163516586 (GRCh38)
5:162943592 (GRCh37)
Canonical SPDI:: NC_000005.10:163516585:G:A
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000005.10:g.163516586G>A, NC_000005.9:g.162943592G>A, NM_013283.5:c.595G>A, NM_013283.4:c.595G>A, NM_182796.2:c.562G>A, NP_037415.1:p.Val199Ile, NP_877725.1:p.Val188Ile

Select item 144595551117.

rs1445955511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:163517672 (GRCh38)
5:162944678 (GRCh37)
Canonical SPDI:: NC_000005.10:163517671:C:T
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.163517672C>T, NC_000005.9:g.162944678C>T, NM_013283.5:c.832C>T, NM_013283.4:c.832C>T, NM_182796.2:c.799C>T, NP_037415.1:p.Pro278Ser, NP_877725.1:p.Pro267Ser

Select item 143877488918.

rs1438774889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163513593 (GRCh38)
5:162940599 (GRCh37)
Canonical SPDI:: NC_000005.10:163513592:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.163513593A>G, NC_000005.9:g.162940599A>G, NM_013283.5:c.297A>G, NM_013283.4:c.297A>G, NM_182796.2:c.264A>G

Select item 143529773319.

rs1435297733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:163516696 (GRCh38)
5:162943702 (GRCh37)
Canonical SPDI:: NC_000005.10:163516695:A:G
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.163516696A>G, NC_000005.9:g.162943702A>G, NM_013283.5:c.705A>G, NM_013283.4:c.705A>G, NM_182796.2:c.672A>G

Select item 143448614220.

rs1434486142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:163505690 (GRCh38)
5:162932696 (GRCh37)
Canonical SPDI:: NC_000005.10:163505689:G:C
Gene:: MAT2B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.163505690G>C, NC_000005.9:g.162932696G>C, NM_013283.5:c.4G>C, NM_013283.4:c.4G>C, NP_037415.1:p.Val2Leu

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