SNP Links for Protein (Select 635574584) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 163

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Select item 14902868751.

rs1490286875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:55636123 (GRCh38)
4:56502290 (GRCh37)
Canonical SPDI:: NC_000004.12:55636122:G:T
Gene:: NMU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000039/5 (GnomAD_exomes)
T=0.000043/6 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.55636123G>T, NC_000004.11:g.56502290G>T, NM_006681.4:c.70C>A, NM_006681.3:c.70C>A, NM_006681.2:c.70C>A, NM_001292045.2:c.70C>A, NM_001292045.1:c.70C>A, NM_001292046.2:c.70C>A, NM_001292046.1:c.70C>A, XM_047449544.1:c.70C>A, NP_006672.1:p.Leu24Met, NP_001278974.1:p.Leu24Met, NP_001278975.1:p.Leu24Met, XP_047305500.1:p.Leu24Met

Select item 14843637592.

rs1484363759 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:55600558 (GRCh38)
4:56466725 (GRCh37)
Canonical SPDI:: NC_000004.12:55600557:GGG:GG
Gene:: NMU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55600560del, NC_000004.11:g.56466727del, NM_006681.4:c.453del, NM_006681.3:c.453del, NM_006681.2:c.453del, XM_011534368.4:c.351del, XM_011534368.3:c.351del, XM_011534368.2:c.351del, XM_011534368.1:c.351del, XM_011534367.3:c.402del, XM_011534367.2:c.402del, XM_011534367.1:c.402del, NR_120489.2:n.540del, NR_120489.1:n.445del, NM_001292045.2:c.405del, NM_001292045.1:c.405del, NM_001292046.2:c.378del, NM_001292046.1:c.378del, XM_047449544.1:c.330del, NP_006672.1:p.Phe152fs, XP_011532670.1:p.Phe118fs, XP_011532669.1:p.Phe135fs, NP_001278974.1:p.Phe136fs, NP_001278975.1:p.Phe127fs, XP_047305500.1:p.Phe111fs

Select item 14829997313.

rs1482999731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:55630416 (GRCh38)
4:56496583 (GRCh37)
Canonical SPDI:: NC_000004.12:55630415:G:A
Gene:: NMU (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55630416G>A, NC_000004.11:g.56496583G>A, NM_006681.4:c.157C>T, NM_006681.3:c.157C>T, NM_006681.2:c.157C>T, XM_011534368.4:c.55C>T, XM_011534368.3:c.55C>T, XM_011534368.2:c.55C>T, XM_011534368.1:c.55C>T, NR_120489.2:n.295C>T, NR_120489.1:n.200C>T, NM_001292045.2:c.157C>T, NM_001292045.1:c.157C>T, NM_001292046.2:c.157C>T, NM_001292046.1:c.157C>T, XM_047449544.1:c.157C>T, NP_006672.1:p.Gln53Ter, XP_011532670.1:p.Gln19Ter, NP_001278974.1:p.Gln53Ter, NP_001278975.1:p.Gln53Ter, XP_047305500.1:p.Gln53Ter

Select item 14824967874.

rs1482496787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:55599169 (GRCh38)
4:56465336 (GRCh37)
Canonical SPDI:: NC_000004.12:55599168:T:C
Gene:: NMU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.55599169T>C, NC_000004.11:g.56465336T>C, NM_006681.4:c.502A>G, NM_006681.3:c.502A>G, NM_006681.2:c.502A>G, XM_011534368.4:c.400A>G, XM_011534368.3:c.400A>G, XM_011534368.2:c.400A>G, XM_011534368.1:c.400A>G, XM_011534367.3:c.451A>G, XM_011534367.2:c.451A>G, XM_011534367.1:c.451A>G, NR_120489.2:n.589A>G, NR_120489.1:n.494A>G, NM_001292045.2:c.454A>G, NM_001292045.1:c.454A>G, NM_001292046.2:c.427A>G, NM_001292046.1:c.427A>G, XM_047449544.1:c.379A>G, NP_006672.1:p.Arg168Gly, XP_011532670.1:p.Arg134Gly, XP_011532669.1:p.Arg151Gly, NP_001278974.1:p.Arg152Gly, NP_001278975.1:p.Arg143Gly, XP_047305500.1:p.Arg127Gly

Select item 14784134665.

rs1478413466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:55636131 (GRCh38)
4:56502298 (GRCh37)
Canonical SPDI:: NC_000004.12:55636130:G:A,NC_000004.12:55636130:G:C
Gene:: NMU (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.55636131G>A, NC_000004.12:g.55636131G>C, NC_000004.11:g.56502298G>A, NC_000004.11:g.56502298G>C, NM_006681.4:c.62C>T, NM_006681.4:c.62C>G, NM_006681.3:c.62C>T, NM_006681.3:c.62C>G, NM_006681.2:c.62C>T, NM_006681.2:c.62C>G, NM_001292045.2:c.62C>T, NM_001292045.2:c.62C>G, NM_001292045.1:c.62C>T, NM_001292045.1:c.62C>G, NM_001292046.2:c.62C>T, NM_001292046.2:c.62C>G, NM_001292046.1:c.62C>T, NM_001292046.1:c.62C>G, XM_047449544.1:c.62C>T, XM_047449544.1:c.62C>G, NP_006672.1:p.Pro21Leu, NP_006672.1:p.Pro21Arg, NP_001278974.1:p.Pro21Leu, NP_001278974.1:p.Pro21Arg, NP_001278975.1:p.Pro21Leu, NP_001278975.1:p.Pro21Arg, XP_047305500.1:p.Pro21Leu, XP_047305500.1:p.Pro21Arg

Select item 14694083206.

rs1469408320 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:55607346 (GRCh38)
4:56473513 (GRCh37)
Canonical SPDI:: NC_000004.12:55607345:G:
Gene:: NMU (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55607346del, NC_000004.11:g.56473513del, NM_006681.4:c.312del, NM_006681.3:c.312del, NM_006681.2:c.312del, XM_011534368.4:c.210del, XM_011534368.3:c.210del, XM_011534368.2:c.210del, XM_011534368.1:c.210del, XM_011534367.3:c.261del, XM_011534367.2:c.261del, XM_011534367.1:c.261del, NM_001292045.2:c.264del, NM_001292045.1:c.264del, NM_001292046.2:c.312del, NM_001292046.1:c.312del, XM_047449544.1:c.264del, NP_006672.1:p.Leu105fs, XP_011532670.1:p.Leu71fs, XP_011532669.1:p.Leu88fs, NP_001278974.1:p.Leu89fs, NP_001278975.1:p.Leu105fs, XP_047305500.1:p.Leu89fs

Select item 14665657767.

rs1466565776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:55607303 (GRCh38)
4:56473470 (GRCh37)
Canonical SPDI:: NC_000004.12:55607302:C:T
Gene:: NMU (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.55607303C>T, NC_000004.11:g.56473470C>T, NM_006681.4:c.355G>A, NM_006681.3:c.355G>A, NM_006681.2:c.355G>A, XM_011534368.4:c.253G>A, XM_011534368.3:c.253G>A, XM_011534368.2:c.253G>A, XM_011534368.1:c.253G>A, XM_011534367.3:c.304G>A, XM_011534367.2:c.304G>A, XM_011534367.1:c.304G>A, NM_001292045.2:c.307G>A, NM_001292045.1:c.307G>A, NM_001292046.2:c.355G>A, NM_001292046.1:c.355G>A, XM_047449544.1:c.307G>A, NP_006672.1:p.Val119Ile, XP_011532670.1:p.Val85Ile, XP_011532669.1:p.Val102Ile, NP_001278974.1:p.Val103Ile, NP_001278975.1:p.Val119Ile, XP_047305500.1:p.Val103Ile

Select item 14595664448.

rs1459566444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:55636136 (GRCh38)
4:56502303 (GRCh37)
Canonical SPDI:: NC_000004.12:55636135:C:A
Gene:: NMU (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000043/6 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.55636136C>A, NC_000004.11:g.56502303C>A, NM_006681.4:c.57G>T, NM_006681.3:c.57G>T, NM_006681.2:c.57G>T, NM_001292045.2:c.57G>T, NM_001292045.1:c.57G>T, NM_001292046.2:c.57G>T, NM_001292046.1:c.57G>T, XM_047449544.1:c.57G>T

Select item 14585758679.

rs1458575867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:55600544 (GRCh38)
4:56466711 (GRCh37)
Canonical SPDI:: NC_000004.12:55600543:C:A,NC_000004.12:55600543:C:T
Gene:: NMU (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000004.12:g.55600544C>A, NC_000004.12:g.55600544C>T, NC_000004.11:g.56466711C>A, NC_000004.11:g.56466711C>T, NM_006681.4:c.467G>T, NM_006681.4:c.467G>A, NM_006681.3:c.467G>T, NM_006681.3:c.467G>A, NM_006681.2:c.467G>T, NM_006681.2:c.467G>A, XM_011534368.4:c.365G>T, XM_011534368.4:c.365G>A, XM_011534368.3:c.365G>T, XM_011534368.3:c.365G>A, XM_011534368.2:c.365G>T, XM_011534368.2:c.365G>A, XM_011534368.1:c.365G>T, XM_011534368.1:c.365G>A, XM_011534367.3:c.416G>T, XM_011534367.3:c.416G>A, XM_011534367.2:c.416G>T, XM_011534367.2:c.416G>A, XM_011534367.1:c.416G>T, XM_011534367.1:c.416G>A, NR_120489.2:n.554G>T, NR_120489.2:n.554G>A, NR_120489.1:n.459G>T, NR_120489.1:n.459G>A, NM_001292045.2:c.419G>T, NM_001292045.2:c.419G>A, NM_001292045.1:c.419G>T, NM_001292045.1:c.419G>A, NM_001292046.2:c.392G>T, NM_001292046.2:c.392G>A, NM_001292046.1:c.392G>T, NM_001292046.1:c.392G>A, XM_047449544.1:c.344G>T, XM_047449544.1:c.344G>A, NP_006672.1:p.Ser156Ile, NP_006672.1:p.Ser156Asn, XP_011532670.1:p.Ser122Ile, XP_011532670.1:p.Ser122Asn, XP_011532669.1:p.Ser139Ile, XP_011532669.1:p.Ser139Asn, NP_001278974.1:p.Ser140Ile, NP_001278974.1:p.Ser140Asn, NP_001278975.1:p.Ser131Ile, NP_001278975.1:p.Ser131Asn, XP_047305500.1:p.Ser115Ile, XP_047305500.1:p.Ser115Asn

Select item 145649669210.

rs1456496692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:55607457 (GRCh38)
4:56473624 (GRCh37)
Canonical SPDI:: NC_000004.12:55607456:C:A
Gene:: NMU (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55607457C>A, NC_000004.11:g.56473624C>A, NM_006681.4:c.289G>T, NM_006681.3:c.289G>T, NM_006681.2:c.289G>T, XM_011534368.4:c.187G>T, XM_011534368.3:c.187G>T, XM_011534368.2:c.187G>T, XM_011534368.1:c.187G>T, XM_011534367.3:c.238G>T, XM_011534367.2:c.238G>T, XM_011534367.1:c.238G>T, NR_120489.2:n.427G>T, NR_120489.1:n.332G>T, NM_001292045.2:c.241G>T, NM_001292045.1:c.241G>T, NM_001292046.2:c.289G>T, NM_001292046.1:c.289G>T, XM_047449544.1:c.241G>T, NP_006672.1:p.Glu97Ter, XP_011532670.1:p.Glu63Ter, XP_011532669.1:p.Glu80Ter, NP_001278974.1:p.Glu81Ter, NP_001278975.1:p.Glu97Ter, XP_047305500.1:p.Glu81Ter

Select item 144892765011.

rs1448927650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:55609125 (GRCh38)
4:56475292 (GRCh37)
Canonical SPDI:: NC_000004.12:55609124:G:A
Gene:: NMU (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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)
HGVS:: NC_000004.12:g.55609125G>A, NC_000004.11:g.56475292G>A, NM_006681.4:c.274C>T, NM_006681.3:c.274C>T, NM_006681.2:c.274C>T, XM_011534368.4:c.172C>T, XM_011534368.3:c.172C>T, XM_011534368.2:c.172C>T, XM_011534368.1:c.172C>T, XM_011534367.3:c.223C>T, XM_011534367.2:c.223C>T, XM_011534367.1:c.223C>T, NR_120489.2:n.412C>T, NR_120489.1:n.317C>T, NM_001292045.2:c.226C>T, NM_001292045.1:c.226C>T, NM_001292046.2:c.274C>T, NM_001292046.1:c.274C>T, XM_047449544.1:c.226C>T, NP_006672.1:p.Pro92Ser, XP_011532670.1:p.Pro58Ser, XP_011532669.1:p.Pro75Ser, NP_001278974.1:p.Pro76Ser, NP_001278975.1:p.Pro92Ser, XP_047305500.1:p.Pro76Ser

Select item 144795602612.

rs1447956026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:55630448 (GRCh38)
4:56496615 (GRCh37)
Canonical SPDI:: NC_000004.12:55630447:A:G
Gene:: NMU (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55630448A>G, NC_000004.11:g.56496615A>G, NM_006681.4:c.125T>C, NM_006681.3:c.125T>C, NM_006681.2:c.125T>C, XM_011534368.4:c.23T>C, XM_011534368.3:c.23T>C, XM_011534368.2:c.23T>C, XM_011534368.1:c.23T>C, NR_120489.2:n.263T>C, NR_120489.1:n.168T>C, NM_001292045.2:c.125T>C, NM_001292045.1:c.125T>C, NM_001292046.2:c.125T>C, NM_001292046.1:c.125T>C, XM_047449544.1:c.125T>C, NP_006672.1:p.Leu42Ser, XP_011532670.1:p.Leu8Ser, NP_001278974.1:p.Leu42Ser, NP_001278975.1:p.Leu42Ser, XP_047305500.1:p.Leu42Ser

Select item 144488943513.

rs1444889435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:55636098 (GRCh38)
4:56502265 (GRCh37)
Canonical SPDI:: NC_000004.12:55636097:C:T
Gene:: NMU (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55636098C>T, NC_000004.11:g.56502265C>T, NM_006681.4:c.95G>A, NM_006681.3:c.95G>A, NM_006681.2:c.95G>A, NM_001292045.2:c.95G>A, NM_001292045.1:c.95G>A, NM_001292046.2:c.95G>A, NM_001292046.1:c.95G>A, XM_047449544.1:c.95G>A, NP_006672.1:p.Cys32Tyr, NP_001278974.1:p.Cys32Tyr, NP_001278975.1:p.Cys32Tyr, XP_047305500.1:p.Cys32Tyr

Select item 144327907614.

rs1443279076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:55607324 (GRCh38)
4:56473491 (GRCh37)
Canonical SPDI:: NC_000004.12:55607323:G:C,NC_000004.12:55607323:G:T
Gene:: NMU (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55607324G>C, NC_000004.12:g.55607324G>T, NC_000004.11:g.56473491G>C, NC_000004.11:g.56473491G>T, NM_006681.4:c.334C>G, NM_006681.4:c.334C>A, NM_006681.3:c.334C>G, NM_006681.3:c.334C>A, NM_006681.2:c.334C>G, NM_006681.2:c.334C>A, XM_011534368.4:c.232C>G, XM_011534368.4:c.232C>A, XM_011534368.3:c.232C>G, XM_011534368.3:c.232C>A, XM_011534368.2:c.232C>G, XM_011534368.2:c.232C>A, XM_011534368.1:c.232C>G, XM_011534368.1:c.232C>A, XM_011534367.3:c.283C>G, XM_011534367.3:c.283C>A, XM_011534367.2:c.283C>G, XM_011534367.2:c.283C>A, XM_011534367.1:c.283C>G, XM_011534367.1:c.283C>A, NM_001292045.2:c.286C>G, NM_001292045.2:c.286C>A, NM_001292045.1:c.286C>G, NM_001292045.1:c.286C>A, NM_001292046.2:c.334C>G, NM_001292046.2:c.334C>A, NM_001292046.1:c.334C>G, NM_001292046.1:c.334C>A, XM_047449544.1:c.286C>G, XM_047449544.1:c.286C>A, NP_006672.1:p.Gln112Glu, NP_006672.1:p.Gln112Lys, XP_011532670.1:p.Gln78Glu, XP_011532670.1:p.Gln78Lys, XP_011532669.1:p.Gln95Glu, XP_011532669.1:p.Gln95Lys, NP_001278974.1:p.Gln96Glu, NP_001278974.1:p.Gln96Lys, NP_001278975.1:p.Gln112Glu, NP_001278975.1:p.Gln112Lys, XP_047305500.1:p.Gln96Glu, XP_047305500.1:p.Gln96Lys

Select item 142608482315.

rs1426084823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:55636177 (GRCh38)
4:56502344 (GRCh37)
Canonical SPDI:: NC_000004.12:55636176:T:C
Gene:: NMU (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55636177T>C, NC_000004.11:g.56502344T>C, NM_006681.4:c.16A>G, NM_006681.3:c.16A>G, NM_006681.2:c.16A>G, NM_001292045.2:c.16A>G, NM_001292045.1:c.16A>G, NM_001292046.2:c.16A>G, NM_001292046.1:c.16A>G, XM_047449544.1:c.16A>G, NP_006672.1:p.Ser6Gly, NP_001278974.1:p.Ser6Gly, NP_001278975.1:p.Ser6Gly, XP_047305500.1:p.Ser6Gly

Select item 142602705616.

rs1426027056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:55607439 (GRCh38)
4:56473606 (GRCh37)
Canonical SPDI:: NC_000004.12:55607438:T:A
Gene:: NMU (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000004.12:g.55607439T>A, NC_000004.11:g.56473606T>A, NM_006681.4:c.307A>T, NM_006681.3:c.307A>T, NM_006681.2:c.307A>T, XM_011534368.4:c.205A>T, XM_011534368.3:c.205A>T, XM_011534368.2:c.205A>T, XM_011534368.1:c.205A>T, XM_011534367.3:c.256A>T, XM_011534367.2:c.256A>T, XM_011534367.1:c.256A>T, NR_120489.2:n.445A>T, NR_120489.1:n.350A>T, NM_001292045.2:c.259A>T, NM_001292045.1:c.259A>T, NM_001292046.2:c.307A>T, NM_001292046.1:c.307A>T, XM_047449544.1:c.259A>T, NP_006672.1:p.Arg103Trp, XP_011532670.1:p.Arg69Trp, XP_011532669.1:p.Arg86Trp, NP_001278974.1:p.Arg87Trp, NP_001278975.1:p.Arg103Trp, XP_047305500.1:p.Arg87Trp

Select item 141891899217.

rs1418918992 has merged into rs748580274 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:55600529 (GRCh38)
4:56466696 (GRCh37)
Canonical SPDI:: NC_000004.12:55600528:AAAAAA:AAAAA,NC_000004.12:55600528:AAAAAA:AAAAAAA
Gene:: NMU (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000008/1 (ExAC)
HGVS:: NC_000004.12:g.55600534del, NC_000004.12:g.55600534dup, NC_000004.11:g.56466701del, NC_000004.11:g.56466701dup, NM_006681.4:c.482del, NM_006681.4:c.482dup, NM_006681.3:c.482del, NM_006681.3:c.482dup, NM_006681.2:c.482del, NM_006681.2:c.482dup, XM_011534368.4:c.380del, XM_011534368.4:c.380dup, XM_011534368.3:c.380del, XM_011534368.3:c.380dup, XM_011534368.2:c.380del, XM_011534368.2:c.380dup, XM_011534368.1:c.380del, XM_011534368.1:c.380dup, XM_011534367.3:c.431del, XM_011534367.3:c.431dup, XM_011534367.2:c.431del, XM_011534367.2:c.431dup, XM_011534367.1:c.431del, XM_011534367.1:c.431dup, NR_120489.2:n.569del, NR_120489.2:n.569dup, NR_120489.1:n.474del, NR_120489.1:n.474dup, NM_001292045.2:c.434del, NM_001292045.2:c.434dup, NM_001292045.1:c.434del, NM_001292045.1:c.434dup, NM_001292046.2:c.407del, NM_001292046.2:c.407dup, NM_001292046.1:c.407del, NM_001292046.1:c.407dup, XM_047449544.1:c.359del, XM_047449544.1:c.359dup, NP_006672.1:p.Leu161fs, NP_006672.1:p.Leu161fs, XP_011532670.1:p.Leu127fs, XP_011532670.1:p.Leu127fs, XP_011532669.1:p.Leu144fs, XP_011532669.1:p.Leu144fs, NP_001278974.1:p.Leu145fs, NP_001278974.1:p.Leu145fs, NP_001278975.1:p.Leu136fs, NP_001278975.1:p.Leu136fs, XP_047305500.1:p.Leu120fs, XP_047305500.1:p.Leu120fs

Select item 141799354718.

rs1417993547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:55607316 (GRCh38)
4:56473483 (GRCh37)
Canonical SPDI:: NC_000004.12:55607315:C:T
Gene:: NMU (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55607316C>T, NC_000004.11:g.56473483C>T, NM_006681.4:c.342G>A, NM_006681.3:c.342G>A, NM_006681.2:c.342G>A, XM_011534368.4:c.240G>A, XM_011534368.3:c.240G>A, XM_011534368.2:c.240G>A, XM_011534368.1:c.240G>A, XM_011534367.3:c.291G>A, XM_011534367.2:c.291G>A, XM_011534367.1:c.291G>A, NM_001292045.2:c.294G>A, NM_001292045.1:c.294G>A, NM_001292046.2:c.342G>A, NM_001292046.1:c.342G>A, XM_047449544.1:c.294G>A

Select item 141479808019.

rs1414798080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:55609172 (GRCh38)
4:56475339 (GRCh37)
Canonical SPDI:: NC_000004.12:55609171:T:C
Gene:: NMU (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.55609172T>C, NC_000004.11:g.56475339T>C, NM_006681.4:c.227A>G, NM_006681.3:c.227A>G, NM_006681.2:c.227A>G, XM_011534368.4:c.125A>G, XM_011534368.3:c.125A>G, XM_011534368.2:c.125A>G, XM_011534368.1:c.125A>G, XM_011534367.3:c.176A>G, XM_011534367.2:c.176A>G, XM_011534367.1:c.176A>G, NR_120489.2:n.365A>G, NR_120489.1:n.270A>G, NM_001292045.2:c.179A>G, NM_001292045.1:c.179A>G, NM_001292046.2:c.227A>G, NM_001292046.1:c.227A>G, XM_047449544.1:c.179A>G, NP_006672.1:p.Asn76Ser, XP_011532670.1:p.Asn42Ser, XP_011532669.1:p.Asn59Ser, NP_001278974.1:p.Asn60Ser, NP_001278975.1:p.Asn76Ser, XP_047305500.1:p.Asn60Ser

Select item 140231980020.

rs1402319800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:55616352 (GRCh38)
4:56482519 (GRCh37)
Canonical SPDI:: NC_000004.12:55616351:C:T
Gene:: NMU (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55616352C>T, NC_000004.11:g.56482519C>T, NM_006681.4:c.205G>A, NM_006681.3:c.205G>A, NM_006681.2:c.205G>A, XM_011534368.4:c.103G>A, XM_011534368.3:c.103G>A, XM_011534368.2:c.103G>A, XM_011534368.1:c.103G>A, NR_120489.2:n.343G>A, NR_120489.1:n.248G>A, NM_001292046.2:c.205G>A, NM_001292046.1:c.205G>A, NP_006672.1:p.Asp69Asn, XP_011532670.1:p.Asp35Asn, NP_001278975.1:p.Asp69Asn

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