SNP Links for Protein (Select 526479851) - SNP

Links from Protein

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Select item 14876185981.

rs1487618598 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTCCGGGGGCGGC [Show Flanks]
Chromosome:: 17:12020910 (GRCh38)
17:11924228 (GRCh37)
Canonical SPDI:: NC_000017.11:12020910:GGCGGCGGCTCCGGGGGCGGC:GGCGGCGGCTCCGGGGGCGGCGGCTCCGGGGGCGGC
Gene:: MAP2K4 (Varview), ZNF18 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGCGGCTCCGGGGGCGGCGGCTCCGGGGGCGGC=0./0 (ALFA)
GGCGGCGGCTCCGGG=0.000004/1 (TOPMED)
GGCGGCGGCTCCGGG=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12020917_12020931dup, NC_000017.10:g.11924234_11924248dup, NG_033952.1:g.5100_5114dup, NM_003010.4:c.31_45dup, NM_003010.3:c.31_45dup, NM_001281435.2:c.31_45dup, NM_001281435.1:c.31_45dup, XM_011523976.3:c.31_45dup, XM_011523976.2:c.31_45dup, XM_011523976.1:c.31_45dup, XR_007065381.1:n.41_55dup, XR_007065382.1:n.41_55dup, NP_003001.1:p.Gly11_Gly15dup, NP_001268364.1:p.Gly11_Gly15dup, XP_011522278.1:p.Gly11_Gly15dup

Select item 14873778622.

rs1487377862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:12125338 (GRCh38)
17:12028655 (GRCh37)
Canonical SPDI:: NC_000017.11:12125337:C:A,NC_000017.11:12125337:C:G,NC_000017.11:12125337:C:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.12125338C>A, NC_000017.11:g.12125338C>G, NC_000017.11:g.12125338C>T, NC_000017.10:g.12028655C>A, NC_000017.10:g.12028655C>G, NC_000017.10:g.12028655C>T, NG_033952.1:g.109521C>A, NG_033952.1:g.109521C>G, NG_033952.1:g.109521C>T, NM_003010.4:c.858C>A, NM_003010.4:c.858C>G, NM_003010.4:c.858C>T, NM_003010.3:c.858C>A, NM_003010.3:c.858C>G, NM_003010.3:c.858C>T, NM_001281435.2:c.891C>A, NM_001281435.2:c.891C>G, NM_001281435.2:c.891C>T, NM_001281435.1:c.891C>A, NM_001281435.1:c.891C>G, NM_001281435.1:c.891C>T, XM_005256753.4:c.504C>A, XM_005256753.4:c.504C>G, XM_005256753.4:c.504C>T, XM_005256753.3:c.504C>A, XM_005256753.3:c.504C>G, XM_005256753.3:c.504C>T, XM_005256753.2:c.504C>A, XM_005256753.2:c.504C>G, XM_005256753.2:c.504C>T, XM_005256753.1:c.504C>A, XM_005256753.1:c.504C>G, XM_005256753.1:c.504C>T, XM_011523976.3:c.891C>A, XM_011523976.3:c.891C>G, XM_011523976.3:c.891C>T, XM_011523976.2:c.891C>A, XM_011523976.2:c.891C>G, XM_011523976.2:c.891C>T, XM_011523976.1:c.891C>A, XM_011523976.1:c.891C>G, XM_011523976.1:c.891C>T, XR_007065381.1:n.901C>A, XR_007065381.1:n.901C>G, XR_007065381.1:n.901C>T, XR_007065382.1:n.868C>A, XR_007065382.1:n.868C>G, XR_007065382.1:n.868C>T

Select item 14863091683.

rs1486309168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12095658 (GRCh38)
17:11998975 (GRCh37)
Canonical SPDI:: NC_000017.11:12095657:A:G
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12095658A>G, NC_000017.10:g.11998975A>G, NG_033952.1:g.79841A>G, NM_003010.4:c.477A>G, NM_003010.3:c.477A>G, NM_001281435.2:c.510A>G, NM_001281435.1:c.510A>G, XM_005256753.4:c.123A>G, XM_005256753.3:c.123A>G, XM_005256753.2:c.123A>G, XM_005256753.1:c.123A>G, XM_011523976.3:c.510A>G, XM_011523976.2:c.510A>G, XM_011523976.1:c.510A>G, XR_007065381.1:n.520A>G, XR_007065382.1:n.487A>G

Select item 14853066104.

rs1485306610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:12081431 (GRCh38)
17:11984748 (GRCh37)
Canonical SPDI:: NC_000017.11:12081430:T:A
Gene:: MAP2K4 (Varview), MIR744 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.12081431T>A, NC_000017.10:g.11984748T>A, NG_033952.1:g.65614T>A, NM_003010.4:c.294T>A, NM_003010.3:c.294T>A, NM_001281435.2:c.327T>A, NM_001281435.1:c.327T>A, XM_005256753.4:c.-61T>A, XM_005256753.3:c.-61T>A, XM_005256753.2:c.-61T>A, XM_005256753.1:c.-61T>A, XM_011523976.3:c.327T>A, XM_011523976.2:c.327T>A, XM_011523976.1:c.327T>A, XR_007065381.1:n.337T>A, XR_007065382.1:n.304T>A

Select item 14852754645.

rs1485275464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:12110380 (GRCh38)
17:12013697 (GRCh37)
Canonical SPDI:: NC_000017.11:12110379:G:A
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12110380G>A, NC_000017.10:g.12013697G>A, NG_033952.1:g.94563G>A, NM_003010.4:c.639G>A, NM_003010.3:c.639G>A, NM_001281435.2:c.672G>A, NM_001281435.1:c.672G>A, XM_005256753.4:c.285G>A, XM_005256753.3:c.285G>A, XM_005256753.2:c.285G>A, XM_005256753.1:c.285G>A, XM_011523976.3:c.672G>A, XM_011523976.2:c.672G>A, XM_011523976.1:c.672G>A, XR_007065381.1:n.682G>A, XR_007065382.1:n.649G>A

Select item 14807856866.

rs1480785686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:12129180 (GRCh38)
17:12032497 (GRCh37)
Canonical SPDI:: NC_000017.11:12129179:T:G
Gene:: MAP2K4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.12129180T>G, NC_000017.10:g.12032497T>G, NG_033952.1:g.113363T>G, NM_003010.4:c.933T>G, NM_003010.3:c.933T>G, NM_001281435.2:c.966T>G, NM_001281435.1:c.966T>G, XM_005256753.4:c.579T>G, XM_005256753.3:c.579T>G, XM_005256753.2:c.579T>G, XM_005256753.1:c.579T>G, XR_007065381.1:n.976T>G, XR_007065382.1:n.943T>G, NP_003001.1:p.Asn311Lys, NP_001268364.1:p.Asn322Lys, XP_005256810.1:p.Asn193Lys

Select item 14747406937.

rs1474740693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:12125308 (GRCh38)
17:12028625 (GRCh37)
Canonical SPDI:: NC_000017.11:12125307:C:G,NC_000017.11:12125307:C:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12125308C>G, NC_000017.11:g.12125308C>T, NC_000017.10:g.12028625C>G, NC_000017.10:g.12028625C>T, NG_033952.1:g.109491C>G, NG_033952.1:g.109491C>T, NM_003010.4:c.828C>G, NM_003010.4:c.828C>T, NM_003010.3:c.828C>G, NM_003010.3:c.828C>T, NM_001281435.2:c.861C>G, NM_001281435.2:c.861C>T, NM_001281435.1:c.861C>G, NM_001281435.1:c.861C>T, XM_005256753.4:c.474C>G, XM_005256753.4:c.474C>T, XM_005256753.3:c.474C>G, XM_005256753.3:c.474C>T, XM_005256753.2:c.474C>G, XM_005256753.2:c.474C>T, XM_005256753.1:c.474C>G, XM_005256753.1:c.474C>T, XM_011523976.3:c.861C>G, XM_011523976.3:c.861C>T, XM_011523976.2:c.861C>G, XM_011523976.2:c.861C>T, XM_011523976.1:c.861C>G, XM_011523976.1:c.861C>T, XR_007065381.1:n.871C>G, XR_007065381.1:n.871C>T, XR_007065382.1:n.838C>G, XR_007065382.1:n.838C>T, NP_003001.1:p.Asp276Glu, NP_001268364.1:p.Asp287Glu, XP_005256810.1:p.Asp158Glu, XP_011522278.1:p.Asp287Glu

Select item 14742080278.

rs1474208027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:12081459 (GRCh38)
17:11984776 (GRCh37)
Canonical SPDI:: NC_000017.11:12081458:A:G,NC_000017.11:12081458:A:T
Gene:: MAP2K4 (Varview), MIR744 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12081459A>G, NC_000017.11:g.12081459A>T, NC_000017.10:g.11984776A>G, NC_000017.10:g.11984776A>T, NG_033952.1:g.65642A>G, NG_033952.1:g.65642A>T, NM_003010.4:c.322A>G, NM_003010.4:c.322A>T, NM_003010.3:c.322A>G, NM_003010.3:c.322A>T, NM_001281435.2:c.355A>G, NM_001281435.2:c.355A>T, NM_001281435.1:c.355A>G, NM_001281435.1:c.355A>T, XM_005256753.4:c.-33A>G, XM_005256753.4:c.-33A>T, XM_005256753.3:c.-33A>G, XM_005256753.3:c.-33A>T, XM_005256753.2:c.-33A>G, XM_005256753.2:c.-33A>T, XM_005256753.1:c.-33A>G, XM_005256753.1:c.-33A>T, XM_011523976.3:c.355A>G, XM_011523976.3:c.355A>T, XM_011523976.2:c.355A>G, XM_011523976.2:c.355A>T, XM_011523976.1:c.355A>G, XM_011523976.1:c.355A>T, XR_007065381.1:n.365A>G, XR_007065381.1:n.365A>T, XR_007065382.1:n.332A>G, XR_007065382.1:n.332A>T, NP_003001.1:p.Ile108Val, NP_003001.1:p.Ile108Phe, NP_001268364.1:p.Ile119Val, NP_001268364.1:p.Ile119Phe, XP_011522278.1:p.Ile119Val, XP_011522278.1:p.Ile119Phe

Select item 14741752849.

rs1474175284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12110401 (GRCh38)
17:12013718 (GRCh37)
Canonical SPDI:: NC_000017.11:12110400:A:G
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12110401A>G, NC_000017.10:g.12013718A>G, NG_033952.1:g.94584A>G, NM_003010.4:c.660A>G, NM_003010.3:c.660A>G, NM_001281435.2:c.693A>G, NM_001281435.1:c.693A>G, XM_005256753.4:c.306A>G, XM_005256753.3:c.306A>G, XM_005256753.2:c.306A>G, XM_005256753.1:c.306A>G, XM_011523976.3:c.693A>G, XM_011523976.2:c.693A>G, XM_011523976.1:c.693A>G, XR_007065381.1:n.703A>G, XR_007065382.1:n.670A>G

Select item 146751424210.

rs1467514242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:12125329 (GRCh38)
17:12028646 (GRCh37)
Canonical SPDI:: NC_000017.11:12125328:A:G,NC_000017.11:12125328:A:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12125329A>G, NC_000017.11:g.12125329A>T, NC_000017.10:g.12028646A>G, NC_000017.10:g.12028646A>T, NG_033952.1:g.109512A>G, NG_033952.1:g.109512A>T, NM_003010.4:c.849A>G, NM_003010.4:c.849A>T, NM_003010.3:c.849A>G, NM_003010.3:c.849A>T, NM_001281435.2:c.882A>G, NM_001281435.2:c.882A>T, NM_001281435.1:c.882A>G, NM_001281435.1:c.882A>T, XM_005256753.4:c.495A>G, XM_005256753.4:c.495A>T, XM_005256753.3:c.495A>G, XM_005256753.3:c.495A>T, XM_005256753.2:c.495A>G, XM_005256753.2:c.495A>T, XM_005256753.1:c.495A>G, XM_005256753.1:c.495A>T, XM_011523976.3:c.882A>G, XM_011523976.3:c.882A>T, XM_011523976.2:c.882A>G, XM_011523976.2:c.882A>T, XM_011523976.1:c.882A>G, XM_011523976.1:c.882A>T, XR_007065381.1:n.892A>G, XR_007065381.1:n.892A>T, XR_007065382.1:n.859A>G, XR_007065382.1:n.859A>T

Select item 146744202111.

rs1467442021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12107909 (GRCh38)
17:12011226 (GRCh37)
Canonical SPDI:: NC_000017.11:12107908:A:G
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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.12107909A>G, NC_000017.10:g.12011226A>G, NG_033952.1:g.92092A>G, NM_003010.4:c.633A>G, NM_003010.3:c.633A>G, NM_001281435.2:c.666A>G, NM_001281435.1:c.666A>G, XM_005256753.4:c.279A>G, XM_005256753.3:c.279A>G, XM_005256753.2:c.279A>G, XM_005256753.1:c.279A>G, XM_011523976.3:c.666A>G, XM_011523976.2:c.666A>G, XM_011523976.1:c.666A>G, XR_007065381.1:n.676A>G, XR_007065382.1:n.643A>G

Select item 146619910512.

rs1466199105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:12081417 (GRCh38)
17:11984734 (GRCh37)
Canonical SPDI:: NC_000017.11:12081416:C:T
Gene:: MAP2K4 (Varview), MIR744 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.12081417C>T, NC_000017.10:g.11984734C>T, NG_033952.1:g.65600C>T, NM_003010.4:c.280C>T, NM_003010.3:c.280C>T, NM_001281435.2:c.313C>T, NM_001281435.1:c.313C>T, XM_005256753.4:c.-75C>T, XM_005256753.3:c.-75C>T, XM_005256753.2:c.-75C>T, XM_005256753.1:c.-75C>T, XM_011523976.3:c.313C>T, XM_011523976.2:c.313C>T, XM_011523976.1:c.313C>T, XR_007065381.1:n.323C>T, XR_007065382.1:n.290C>T, NP_003001.1:p.His94Tyr, NP_001268364.1:p.His105Tyr, XP_011522278.1:p.His105Tyr

Select item 146284414513.

rs1462844145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:12081473 (GRCh38)
17:11984790 (GRCh37)
Canonical SPDI:: NC_000017.11:12081472:T:A
Gene:: MAP2K4 (Varview), MIR744 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12081473T>A, NC_000017.10:g.11984790T>A, NG_033952.1:g.65656T>A, NM_003010.4:c.336T>A, NM_003010.3:c.336T>A, NM_001281435.2:c.369T>A, NM_001281435.1:c.369T>A, XM_005256753.4:c.-19T>A, XM_005256753.3:c.-19T>A, XM_005256753.2:c.-19T>A, XM_005256753.1:c.-19T>A, XM_011523976.3:c.369T>A, XM_011523976.2:c.369T>A, XM_011523976.1:c.369T>A, XR_007065381.1:n.379T>A, XR_007065382.1:n.346T>A

Select item 146241438514.

rs1462414385 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:12020923 (GRCh38)
17:11924240 (GRCh37)
Canonical SPDI:: NC_000017.11:12020922:GGGGG:GGGG
Gene:: MAP2K4 (Varview), ZNF18 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.12020927del, NC_000017.10:g.11924244del, NG_033952.1:g.5110del, NM_003010.4:c.41del, NM_003010.3:c.41del, NM_001281435.2:c.41del, NM_001281435.1:c.41del, XM_011523976.3:c.41del, XM_011523976.2:c.41del, XM_011523976.1:c.41del, XR_007065381.1:n.51del, XR_007065382.1:n.51del, NP_003001.1:p.Gly14fs, NP_001268364.1:p.Gly14fs, XP_011522278.1:p.Gly14fs

Select item 145576362315.

rs1455763623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:12125309 (GRCh38)
17:12028626 (GRCh37)
Canonical SPDI:: NC_000017.11:12125308:C:G,NC_000017.11:12125308:C:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: non_coding_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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12125309C>G, NC_000017.11:g.12125309C>T, NC_000017.10:g.12028626C>G, NC_000017.10:g.12028626C>T, NG_033952.1:g.109492C>G, NG_033952.1:g.109492C>T, NM_003010.4:c.829C>G, NM_003010.4:c.829C>T, NM_003010.3:c.829C>G, NM_003010.3:c.829C>T, NM_001281435.2:c.862C>G, NM_001281435.2:c.862C>T, NM_001281435.1:c.862C>G, NM_001281435.1:c.862C>T, XM_005256753.4:c.475C>G, XM_005256753.4:c.475C>T, XM_005256753.3:c.475C>G, XM_005256753.3:c.475C>T, XM_005256753.2:c.475C>G, XM_005256753.2:c.475C>T, XM_005256753.1:c.475C>G, XM_005256753.1:c.475C>T, XM_011523976.3:c.862C>G, XM_011523976.3:c.862C>T, XM_011523976.2:c.862C>G, XM_011523976.2:c.862C>T, XM_011523976.1:c.862C>G, XM_011523976.1:c.862C>T, XR_007065381.1:n.872C>G, XR_007065381.1:n.872C>T, XR_007065382.1:n.839C>G, XR_007065382.1:n.839C>T, NP_003001.1:p.Pro277Ala, NP_003001.1:p.Pro277Ser, NP_001268364.1:p.Pro288Ala, NP_001268364.1:p.Pro288Ser, XP_005256810.1:p.Pro159Ala, XP_005256810.1:p.Pro159Ser, XP_011522278.1:p.Pro288Ala, XP_011522278.1:p.Pro288Ser

Select item 145301261316.

rs1453012613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12113351 (GRCh38)
17:12016668 (GRCh37)
Canonical SPDI:: NC_000017.11:12113350:A:G
Gene:: MAP2K4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.12113351A>G, NC_000017.10:g.12016668A>G, NG_033952.1:g.97534A>G, NM_003010.4:c.804A>G, NM_003010.3:c.804A>G, NM_001281435.2:c.837A>G, NM_001281435.1:c.837A>G, XM_005256753.4:c.450A>G, XM_005256753.3:c.450A>G, XM_005256753.2:c.450A>G, XM_005256753.1:c.450A>G, XM_011523976.3:c.837A>G, XM_011523976.2:c.837A>G, XM_011523976.1:c.837A>G, XR_007065381.1:n.847A>G, XR_007065382.1:n.814A>G

Select item 144761238517.

rs1447612385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:12054921 (GRCh38)
17:11958238 (GRCh37)
Canonical SPDI:: NC_000017.11:12054920:A:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.12054921A>T, NC_000017.10:g.11958238A>T, NG_033952.1:g.39104A>T, NM_003010.4:c.148A>T, NM_003010.3:c.148A>T, NM_001281435.2:c.181A>T, NM_001281435.1:c.181A>T, XM_011523976.3:c.181A>T, XM_011523976.2:c.181A>T, XM_011523976.1:c.181A>T, XR_007065381.1:n.191A>T, XR_007065382.1:n.158A>T, NP_003001.1:p.Asn50Tyr, NP_001268364.1:p.Asn61Tyr, XP_011522278.1:p.Asn61Tyr

Select item 144465678518.

rs1444656785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:12095593 (GRCh38)
17:11998910 (GRCh37)
Canonical SPDI:: NC_000017.11:12095592:G:A,NC_000017.11:12095592:G:C,NC_000017.11:12095592:G:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.12095593G>A, NC_000017.11:g.12095593G>C, NC_000017.11:g.12095593G>T, NC_000017.10:g.11998910G>A, NC_000017.10:g.11998910G>C, NC_000017.10:g.11998910G>T, NG_033952.1:g.79776G>A, NG_033952.1:g.79776G>C, NG_033952.1:g.79776G>T, NM_003010.4:c.412G>A, NM_003010.4:c.412G>C, NM_003010.4:c.412G>T, NM_003010.3:c.412G>A, NM_003010.3:c.412G>C, NM_003010.3:c.412G>T, NM_001281435.2:c.445G>A, NM_001281435.2:c.445G>C, NM_001281435.2:c.445G>T, NM_001281435.1:c.445G>A, NM_001281435.1:c.445G>C, NM_001281435.1:c.445G>T, XM_005256753.4:c.58G>A, XM_005256753.4:c.58G>C, XM_005256753.4:c.58G>T, XM_005256753.3:c.58G>A, XM_005256753.3:c.58G>C, XM_005256753.3:c.58G>T, XM_005256753.2:c.58G>A, XM_005256753.2:c.58G>C, XM_005256753.2:c.58G>T, XM_005256753.1:c.58G>A, XM_005256753.1:c.58G>C, XM_005256753.1:c.58G>T, XM_011523976.3:c.445G>A, XM_011523976.3:c.445G>C, XM_011523976.3:c.445G>T, XM_011523976.2:c.445G>A, XM_011523976.2:c.445G>C, XM_011523976.2:c.445G>T, XM_011523976.1:c.445G>A, XM_011523976.1:c.445G>C, XM_011523976.1:c.445G>T, XR_007065381.1:n.455G>A, XR_007065381.1:n.455G>C, XR_007065381.1:n.455G>T, XR_007065382.1:n.422G>A, XR_007065382.1:n.422G>C, XR_007065382.1:n.422G>T, NP_003001.1:p.Asp138Asn, NP_003001.1:p.Asp138His, NP_003001.1:p.Asp138Tyr, NP_001268364.1:p.Asp149Asn, NP_001268364.1:p.Asp149His, NP_001268364.1:p.Asp149Tyr, XP_005256810.1:p.Asp20Asn, XP_005256810.1:p.Asp20His, XP_005256810.1:p.Asp20Tyr, XP_011522278.1:p.Asp149Asn, XP_011522278.1:p.Asp149His, XP_011522278.1:p.Asp149Tyr

Select item 144275200619.

rs1442752006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:12032277 (GRCh38)
17:11935594 (GRCh37)
Canonical SPDI:: NC_000017.11:12032276:A:G
Gene:: MAP2K4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.12032277A>G, NC_000017.10:g.11935594A>G, NG_033952.1:g.16460A>G, NM_001281435.2:c.127A>G, NM_001281435.1:c.127A>G, XM_011523976.3:c.127A>G, XM_011523976.2:c.127A>G, XM_011523976.1:c.127A>G, XR_007065381.1:n.137A>G, NP_001268364.1:p.Asn43Asp, XP_011522278.1:p.Asn43Asp

Select item 143837642720.

rs1438376427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:12107861 (GRCh38)
17:12011178 (GRCh37)
Canonical SPDI:: NC_000017.11:12107860:A:T
Gene:: MAP2K4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.12107861A>T, NC_000017.10:g.12011178A>T, NG_033952.1:g.92044A>T, NM_003010.4:c.585A>T, NM_003010.3:c.585A>T, NM_001281435.2:c.618A>T, NM_001281435.1:c.618A>T, XM_005256753.4:c.231A>T, XM_005256753.3:c.231A>T, XM_005256753.2:c.231A>T, XM_005256753.1:c.231A>T, XM_011523976.3:c.618A>T, XM_011523976.2:c.618A>T, XM_011523976.1:c.618A>T, XR_007065381.1:n.628A>T, XR_007065382.1:n.595A>T

dbSNP

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