SNP Links for Protein (Select 748983076) - SNP

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Links from Protein

Items: 1 to 20 of 5346

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Select item 14912637631.

rs1491263763 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:1191557 (GRCh38)
11:1212784 (GRCh37)
Canonical SPDI:: NC_000011.10:1191557::T
Gene:: MUC5AC (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.1191557_1191558insT, NC_000011.9:g.1212783_1212784insT, NW_015148966.2:g.189041_189042insT, NM_001304359.2:c.13412_13413insT, NM_001304359.1:c.13412_13413insT, NP_001291288.1:p.Ser4472fs

Select item 14909885272.

rs1490988527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:1184208 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1184207:G:T
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.1184208G>T, NW_015148966.2:g.181692G>T, NM_001304359.2:c.6063G>T, NM_001304359.1:c.6063G>T

Select item 14909838393.

rs1490983839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:1184843 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1184842:C:G
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001637/23 (ALFA)
G=0.000781/5 (1000Genomes)
G=0.001191/167 (GnomAD)
G=0.001228/325 (TOPMED)
HGVS:: NC_000011.10:g.1184843C>G, NW_015148966.2:g.182327C>G, NM_001304359.2:c.6698C>G, NM_001304359.1:c.6698C>G, NP_001291288.1:p.Pro2233Arg

Select item 14909826294.

rs1490982629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1167902 (GRCh38)
11:1161237 (GRCh37)
Canonical SPDI:: NC_000011.10:1167901:T:C
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1167902T>C, NC_000011.9:g.1161237T>C, NW_015148966.2:g.165386T>C, NM_001304359.2:c.1412T>C, NM_001304359.1:c.1412T>C, NM_017511.1:c.1412T>C, NP_001291288.1:p.Val471Ala

Select item 14907210595.

rs1490721059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1179132 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1179131:C:T
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.1179132C>T, NW_015148966.2:g.176616C>T, NM_001304359.2:c.3368C>T, NM_001304359.1:c.3368C>T, NP_001291288.1:p.Ala1123Val

Select item 14907035446.

rs1490703544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1189034 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1189033:C:T
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
T=0.000728/102 (GnomAD)
T=0.000827/219 (TOPMED)
T=0.001249/8 (1000Genomes)
HGVS:: NC_000011.10:g.1189034C>T, NW_015148966.2:g.186518C>T, NM_001304359.2:c.10889C>T, NM_001304359.1:c.10889C>T, NP_001291288.1:p.Ser3630Phe

Select item 14906777967.

rs1490677796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:1189741 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1189740:G:C,NC_000011.10:1189740:G:T
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.1189741G>C, NC_000011.10:g.1189741G>T, NW_015148966.2:g.187225G>C, NW_015148966.2:g.187225G>T, NM_001304359.2:c.11596G>C, NM_001304359.2:c.11596G>T, NM_001304359.1:c.11596G>C, NM_001304359.1:c.11596G>T, NP_001291288.1:p.Ala3866Pro, NP_001291288.1:p.Ala3866Ser

Select item 14904960678.

rs1490496067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1183889 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1183888:C:T
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.1183889C>T, NW_015148966.2:g.181373C>T, NM_001304359.2:c.5744C>T, NM_001304359.1:c.5744C>T, NP_001291288.1:p.Pro1915Leu

Select item 14902101779.

rs1490210177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:1188755 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1188754:C:A
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001495/21 (ALFA)
A=0.001093/7 (1000Genomes)
A=0.001602/424 (TOPMED)
A=0.001677/235 (GnomAD)
HGVS:: NC_000011.10:g.1188755C>A, NW_015148966.2:g.186239C>A, NM_001304359.2:c.10610C>A, NM_001304359.1:c.10610C>A, NP_001291288.1:p.Pro3537His

Select item 149020649210.

rs1490206492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:1189434 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1189433:T:C,NC_000011.10:1189433:T:G
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000016/2 (GnomAD)
C=0.000148/4 (TOMMO)
HGVS:: NC_000011.10:g.1189434T>C, NC_000011.10:g.1189434T>G, NW_015148966.2:g.186918T>C, NW_015148966.2:g.186918T>G, NM_001304359.2:c.11289T>C, NM_001304359.2:c.11289T>G, NM_001304359.1:c.11289T>C, NM_001304359.1:c.11289T>G

Select item 149017641411.

rs1490176414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1169014 (GRCh38)
11:1162349 (GRCh37)
Canonical SPDI:: NC_000011.10:1169013:A:G
Gene:: MUC5AC (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_000011.10:g.1169014A>G, NC_000011.9:g.1162349A>G, NW_015148966.2:g.166498A>G, NM_001304359.2:c.1858A>G, NM_001304359.1:c.1858A>G, NM_017511.1:c.1858A>G, NP_001291288.1:p.Ser620Gly

Select item 149001998012.

rs1490019980 has merged into rs767118931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1192118 (GRCh38)
11:1213343 (GRCh37)
Canonical SPDI:: NC_000011.10:1192117:T:C
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000018/2 (ExAC)
C=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.1192118T>C, NC_000011.9:g.1213343T>C, NW_015148966.2:g.189602T>C, NM_001304359.2:c.13973T>C, NM_001304359.1:c.13973T>C, NP_001291288.1:p.Ile4658Thr

Select item 149000688613.

rs1490006886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:1183584 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1183583:G:C,NC_000011.10:1183583:G:T
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
C=0.000042/11 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.1183584G>C, NC_000011.10:g.1183584G>T, NW_015148966.2:g.181068G>C, NW_015148966.2:g.181068G>T, NM_001304359.2:c.5439G>C, NM_001304359.2:c.5439G>T, NM_001304359.1:c.5439G>C, NM_001304359.1:c.5439G>T

Select item 148996850414.

rs1489968504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1194201 (GRCh38)
11:1215427 (GRCh37)
Canonical SPDI:: NC_000011.10:1194200:G:A
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.1194201G>A, NC_000011.9:g.1215427G>A, NW_015148966.2:g.191685G>A, NM_001304359.2:c.14847G>A, NM_001304359.1:c.14847G>A

Select item 148980008615.

rs1489800086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1199724 (GRCh38)
11:1220950 (GRCh37)
Canonical SPDI:: NC_000011.10:1199723:C:T
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.1199724C>T, NC_000011.9:g.1220950C>T, NW_015148966.2:g.197208C>T, NM_001304359.2:c.16545C>T, NM_001304359.1:c.16545C>T

Select item 148978879216.

rs1489788792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1161964 (GRCh38)
11:1155581 (GRCh37)
Canonical SPDI:: NC_000011.10:1161963:A:G
Gene:: MUC5AC (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_000011.10:g.1161964A>G, NC_000011.9:g.1155581A>G, NW_015148966.2:g.159448A>G, NM_001304359.2:c.269A>G, NM_001304359.1:c.269A>G, NM_017511.1:c.269A>G, NP_001291288.1:p.Lys90Arg

Select item 148964736217.

rs1489647362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1188451 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1188450:A:G
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.1188451A>G, NW_015148966.2:g.185935A>G, NM_001304359.2:c.10306A>G, NM_001304359.1:c.10306A>G, NP_001291288.1:p.Thr3436Ala

Select item 148948149618.

rs1489481496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1183539 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1183538:A:G
Gene:: MUC5AC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.1183539A>G, NW_015148966.2:g.181023A>G, NM_001304359.2:c.5394A>G, NM_001304359.1:c.5394A>G

Select item 148930911619.

rs1489309116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:1190966 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1190965:C:A,NC_000011.10:1190965:C:T
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1190966C>A, NC_000011.10:g.1190966C>T, NW_015148966.2:g.188450C>A, NW_015148966.2:g.188450C>T, NM_001304359.2:c.12821C>A, NM_001304359.2:c.12821C>T, NM_001304359.1:c.12821C>A, NM_001304359.1:c.12821C>T, NP_001291288.1:p.Thr4274Asn, NP_001291288.1:p.Thr4274Ile

Select item 148926194520.

rs1489261945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:1183235 (GRCh38)
11:-1 (GRCh37)
Canonical SPDI:: NC_000011.10:1183234:C:G
Gene:: MUC5AC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.1183235C>G, NW_015148966.2:g.180719C>G, NM_001304359.2:c.5090C>G, NM_001304359.1:c.5090C>G, NP_001291288.1:p.Thr1697Ser

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