SNP Links for Protein (Select 1034579603) - SNP

Select item 14844350871.

rs1484435087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109596551 (GRCh38)
12:110034356 (GRCh37)
Canonical SPDI:: NC_000012.12:109596550:G:A
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109596551G>A, NC_000012.11:g.110034356G>A, NG_007702.1:g.27857G>A, NM_000431.4:c.1165G>A, NM_000431.3:c.1165G>A, NM_000431.2:c.1165G>A, NM_001114185.3:c.1165G>A, NM_001114185.2:c.1165G>A, NM_001114185.1:c.1165G>A, NM_001301182.2:c.1009G>A, NM_001301182.1:c.1009G>A, XM_017019313.3:c.1009G>A, XM_017019313.2:c.1009G>A, XM_017019313.1:c.1009G>A, XM_017019314.2:c.1165G>A, XM_017019314.1:c.1165G>A, XM_047428873.1:c.1465G>A, XM_047428874.1:c.583G>A, NP_000422.1:p.Val389Ile, NP_001107657.1:p.Val389Ile, NP_001288111.1:p.Val337Ile, XP_016874802.1:p.Val337Ile, XP_016874803.1:p.Val389Ile, XP_047284829.1:p.Val489Ile, XP_047284830.1:p.Val195Ile

Select item 14809525032.

rs1480952503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109576024 (GRCh38)
12:110013829 (GRCh37)
Canonical SPDI:: NC_000012.12:109576023:G:A
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109576024G>A, NC_000012.11:g.110013829G>A, NG_007702.1:g.7330G>A, NM_000431.4:c.105G>A, NM_000431.3:c.105G>A, NM_000431.2:c.105G>A, NM_001114185.3:c.105G>A, NM_001114185.2:c.105G>A, NM_001114185.1:c.105G>A, NM_001301182.2:c.105G>A, NM_001301182.1:c.105G>A, NG_007096.1:g.2474C>T, XM_017019313.3:c.105G>A, XM_017019313.2:c.105G>A, XM_017019313.1:c.105G>A, XM_017019314.2:c.105G>A, XM_017019314.1:c.105G>A, XM_047428873.1:c.405G>A, XM_047428874.1:c.-177G>A

Select item 14793908713.

rs1479390871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:109574865 (GRCh38)
12:110012670 (GRCh37)
Canonical SPDI:: NC_000012.12:109574864:A:G
Gene:: MVK (Varview), MMAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,5_prime_UTR_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_000012.12:g.109574865A>G, NC_000012.11:g.110012670A>G, NG_007702.1:g.6171A>G, NM_000431.4:c.43A>G, NM_000431.3:c.43A>G, NM_000431.2:c.43A>G, NM_001114185.3:c.43A>G, NM_001114185.2:c.43A>G, NM_001114185.1:c.43A>G, NM_001301182.2:c.43A>G, NM_001301182.1:c.43A>G, NG_007096.1:g.3633T>C, XM_017019313.3:c.43A>G, XM_017019313.2:c.43A>G, XM_017019313.1:c.43A>G, XM_017019314.2:c.43A>G, XM_017019314.1:c.43A>G, XM_047428873.1:c.343A>G, XM_047428874.1:c.-239A>G, NP_000422.1:p.Ile15Val, NP_001107657.1:p.Ile15Val, NP_001288111.1:p.Ile15Val, XP_016874802.1:p.Ile15Val, XP_016874803.1:p.Ile15Val, XP_047284829.1:p.Ile115Val

Select item 14744702304.

rs1474470230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:109574840 (GRCh38)
12:110012645 (GRCh37)
Canonical SPDI:: NC_000012.12:109574839:A:G
Gene:: MVK (Varview), MMAB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/3 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.109574840A>G, NC_000012.11:g.110012645A>G, NG_007702.1:g.6146A>G, NM_000431.4:c.18A>G, NM_000431.3:c.18A>G, NM_000431.2:c.18A>G, NM_001114185.3:c.18A>G, NM_001114185.2:c.18A>G, NM_001114185.1:c.18A>G, NM_001301182.2:c.18A>G, NM_001301182.1:c.18A>G, NG_007096.1:g.3658T>C, XM_017019313.3:c.18A>G, XM_017019313.2:c.18A>G, XM_017019313.1:c.18A>G, XM_017019314.2:c.18A>G, XM_017019314.1:c.18A>G, XM_047428873.1:c.318A>G, XM_047428874.1:c.-264A>G

Select item 14707594655.

rs1470759465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:109596500 (GRCh38)
12:110034305 (GRCh37)
Canonical SPDI:: NC_000012.12:109596499:A:G,NC_000012.12:109596499:A:T
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000012.12:g.109596500A>G, NC_000012.12:g.109596500A>T, NC_000012.11:g.110034305A>G, NC_000012.11:g.110034305A>T, NG_007702.1:g.27806A>G, NG_007702.1:g.27806A>T, NM_000431.4:c.1114A>G, NM_000431.4:c.1114A>T, NM_000431.3:c.1114A>G, NM_000431.3:c.1114A>T, NM_000431.2:c.1114A>G, NM_000431.2:c.1114A>T, NM_001114185.3:c.1114A>G, NM_001114185.3:c.1114A>T, NM_001114185.2:c.1114A>G, NM_001114185.2:c.1114A>T, NM_001114185.1:c.1114A>G, NM_001114185.1:c.1114A>T, NM_001301182.2:c.958A>G, NM_001301182.2:c.958A>T, NM_001301182.1:c.958A>G, NM_001301182.1:c.958A>T, XM_017019313.3:c.958A>G, XM_017019313.3:c.958A>T, XM_017019313.2:c.958A>G, XM_017019313.2:c.958A>T, XM_017019313.1:c.958A>G, XM_017019313.1:c.958A>T, XM_017019314.2:c.1114A>G, XM_017019314.2:c.1114A>T, XM_017019314.1:c.1114A>G, XM_017019314.1:c.1114A>T, XM_047428873.1:c.1414A>G, XM_047428873.1:c.1414A>T, XM_047428874.1:c.532A>G, XM_047428874.1:c.532A>T, NP_000422.1:p.Ile372Val, NP_000422.1:p.Ile372Phe, NP_001107657.1:p.Ile372Val, NP_001107657.1:p.Ile372Phe, NP_001288111.1:p.Ile320Val, NP_001288111.1:p.Ile320Phe, XP_016874802.1:p.Ile320Val, XP_016874802.1:p.Ile320Phe, XP_016874803.1:p.Ile372Val, XP_016874803.1:p.Ile372Phe, XP_047284829.1:p.Ile472Val, XP_047284829.1:p.Ile472Phe, XP_047284830.1:p.Ile178Val, XP_047284830.1:p.Ile178Phe

Select item 14681141466.

rs1468114146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109579926 (GRCh38)
12:110017731 (GRCh37)
Canonical SPDI:: NC_000012.12:109579925:G:A
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.109579926G>A, NC_000012.11:g.110017731G>A, NG_007702.1:g.11232G>A, NM_000431.4:c.351G>A, NM_000431.3:c.351G>A, NM_000431.2:c.351G>A, NM_001114185.3:c.351G>A, NM_001114185.2:c.351G>A, NM_001114185.1:c.351G>A, NM_001301182.2:c.351G>A, NM_001301182.1:c.351G>A, XM_017019313.3:c.351G>A, XM_017019313.2:c.351G>A, XM_017019313.1:c.351G>A, XM_017019314.2:c.351G>A, XM_017019314.1:c.351G>A, XM_047428873.1:c.651G>A

Select item 14628750427.

rs1462875042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109574832 (GRCh38)
12:110012637 (GRCh37)
Canonical SPDI:: NC_000012.12:109574831:G:A
Gene:: MVK (Varview), MMAB (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000012.12:g.109574832G>A, NC_000012.11:g.110012637G>A, NG_007702.1:g.6138G>A, NM_000431.4:c.10G>A, NM_000431.3:c.10G>A, NM_000431.2:c.10G>A, NM_001114185.3:c.10G>A, NM_001114185.2:c.10G>A, NM_001114185.1:c.10G>A, NM_001301182.2:c.10G>A, NM_001301182.1:c.10G>A, NG_007096.1:g.3666C>T, XM_017019313.3:c.10G>A, XM_017019313.2:c.10G>A, XM_017019313.1:c.10G>A, XM_017019314.2:c.10G>A, XM_017019314.1:c.10G>A, XM_047428873.1:c.310G>A, XM_047428874.1:c.-272G>A, NP_000422.1:p.Glu4Lys, NP_001107657.1:p.Glu4Lys, NP_001288111.1:p.Glu4Lys, XP_016874802.1:p.Glu4Lys, XP_016874803.1:p.Glu4Lys, XP_047284829.1:p.Glu104Lys

Select item 14614248288.

rs1461424828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109576111 (GRCh38)
12:110013916 (GRCh37)
Canonical SPDI:: NC_000012.12:109576110:G:A
Gene:: MVK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.109576111G>A, NC_000012.11:g.110013916G>A, NG_007702.1:g.7417G>A, NM_000431.4:c.192G>A, NM_000431.3:c.192G>A, NM_000431.2:c.192G>A, NM_001114185.3:c.192G>A, NM_001114185.2:c.192G>A, NM_001114185.1:c.192G>A, NM_001301182.2:c.192G>A, NM_001301182.1:c.192G>A, NG_007096.1:g.2387C>T, XM_017019313.3:c.192G>A, XM_017019313.2:c.192G>A, XM_017019313.1:c.192G>A, XM_017019314.2:c.192G>A, XM_017019314.1:c.192G>A, XM_047428873.1:c.492G>A, XM_047428874.1:c.-90G>A

Select item 14590784709.

rs1459078470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109596433 (GRCh38)
12:110034238 (GRCh37)
Canonical SPDI:: NC_000012.12:109596432:G:A
Gene:: MVK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.109596433G>A, NC_000012.11:g.110034238G>A, NG_007702.1:g.27739G>A, NM_000431.4:c.1047G>A, NM_000431.3:c.1047G>A, NM_000431.2:c.1047G>A, NM_001114185.3:c.1047G>A, NM_001114185.2:c.1047G>A, NM_001114185.1:c.1047G>A, NM_001301182.2:c.891G>A, NM_001301182.1:c.891G>A, XM_017019313.3:c.891G>A, XM_017019313.2:c.891G>A, XM_017019313.1:c.891G>A, XM_017019314.2:c.1047G>A, XM_017019314.1:c.1047G>A, XM_047428873.1:c.1347G>A, XM_047428874.1:c.465G>A

Select item 145844000710.

rs1458440007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109579888 (GRCh38)
12:110017693 (GRCh37)
Canonical SPDI:: NC_000012.12:109579887:G:A
Gene:: MVK (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.109579888G>A, NC_000012.11:g.110017693G>A, NG_007702.1:g.11194G>A, NM_000431.4:c.313G>A, NM_000431.3:c.313G>A, NM_000431.2:c.313G>A, NM_001114185.3:c.313G>A, NM_001114185.2:c.313G>A, NM_001114185.1:c.313G>A, NM_001301182.2:c.313G>A, NM_001301182.1:c.313G>A, XM_017019313.3:c.313G>A, XM_017019313.2:c.313G>A, XM_017019313.1:c.313G>A, XM_017019314.2:c.313G>A, XM_017019314.1:c.313G>A, XM_047428873.1:c.613G>A, NP_000422.1:p.Glu105Lys, NP_001107657.1:p.Glu105Lys, NP_001288111.1:p.Glu105Lys, XP_016874802.1:p.Glu105Lys, XP_016874803.1:p.Glu105Lys, XP_047284829.1:p.Glu205Lys

Select item 145825406611.

rs1458254066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:109590812 (GRCh38)
12:110028617 (GRCh37)
Canonical SPDI:: NC_000012.12:109590811:C:G
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.109590812C>G, NC_000012.11:g.110028617C>G, NG_007702.1:g.22118C>G, NM_000431.4:c.719C>G, NM_000431.3:c.719C>G, NM_000431.2:c.719C>G, NM_001114185.3:c.719C>G, NM_001114185.2:c.719C>G, NM_001114185.1:c.719C>G, NM_001301182.2:c.563C>G, NM_001301182.1:c.563C>G, XM_017019313.3:c.563C>G, XM_017019313.2:c.563C>G, XM_017019313.1:c.563C>G, XM_017019314.2:c.719C>G, XM_017019314.1:c.719C>G, XM_047428873.1:c.1019C>G, XM_047428874.1:c.137C>G, NP_000422.1:p.Pro240Arg, NP_001107657.1:p.Pro240Arg, NP_001288111.1:p.Pro188Arg, XP_016874802.1:p.Pro188Arg, XP_016874803.1:p.Pro240Arg, XP_047284829.1:p.Pro340Arg, XP_047284830.1:p.Pro46Arg

Select item 145111079212.

rs1451110792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:109576004 (GRCh38)
12:110013809 (GRCh37)
Canonical SPDI:: NC_000012.12:109576003:C:G
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109576004C>G, NC_000012.11:g.110013809C>G, NG_007702.1:g.7310C>G, NM_000431.4:c.85C>G, NM_000431.3:c.85C>G, NM_000431.2:c.85C>G, NM_001114185.3:c.85C>G, NM_001114185.2:c.85C>G, NM_001114185.1:c.85C>G, NM_001301182.2:c.85C>G, NM_001301182.1:c.85C>G, NG_007096.1:g.2494G>C, XM_017019313.3:c.85C>G, XM_017019313.2:c.85C>G, XM_017019313.1:c.85C>G, XM_017019314.2:c.85C>G, XM_017019314.1:c.85C>G, XM_047428873.1:c.385C>G, XM_047428874.1:c.-197C>G, NP_000422.1:p.Leu29Val, NP_001107657.1:p.Leu29Val, NP_001288111.1:p.Leu29Val, XP_016874802.1:p.Leu29Val, XP_016874803.1:p.Leu29Val, XP_047284829.1:p.Leu129Val

Select item 144858749913.

rs1448587499 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:109590842 (GRCh38)
12:110028647 (GRCh37)
Canonical SPDI:: NC_000012.12:109590841:T:G
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
G=0.00218/4 (Korea1K)
HGVS:: NC_000012.12:g.109590842T>G, NC_000012.11:g.110028647T>G, NG_007702.1:g.22148T>G, NM_000431.4:c.749T>G, NM_000431.3:c.749T>G, NM_000431.2:c.749T>G, NM_001114185.3:c.749T>G, NM_001114185.2:c.749T>G, NM_001114185.1:c.749T>G, NM_001301182.2:c.593T>G, NM_001301182.1:c.593T>G, XM_017019313.3:c.593T>G, XM_017019313.2:c.593T>G, XM_017019313.1:c.593T>G, XM_017019314.2:c.749T>G, XM_017019314.1:c.749T>G, XM_047428873.1:c.1049T>G, XM_047428874.1:c.167T>G, NP_000422.1:p.Val250Gly, NP_001107657.1:p.Val250Gly, NP_001288111.1:p.Val198Gly, XP_016874802.1:p.Val198Gly, XP_016874803.1:p.Val250Gly, XP_047284829.1:p.Val350Gly, XP_047284830.1:p.Val56Gly

Select item 144050695114.

rs1440506951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:109579810 (GRCh38)
12:110017615 (GRCh37)
Canonical SPDI:: NC_000012.12:109579809:G:T
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.109579810G>T, NC_000012.11:g.110017615G>T, NG_007702.1:g.11116G>T, NM_000431.4:c.235G>T, NM_000431.3:c.235G>T, NM_000431.2:c.235G>T, NM_001114185.3:c.235G>T, NM_001114185.2:c.235G>T, NM_001114185.1:c.235G>T, NM_001301182.2:c.235G>T, NM_001301182.1:c.235G>T, XM_017019313.3:c.235G>T, XM_017019313.2:c.235G>T, XM_017019313.1:c.235G>T, XM_017019314.2:c.235G>T, XM_017019314.1:c.235G>T, XM_047428873.1:c.535G>T, NP_000422.1:p.Asp79Tyr, NP_001107657.1:p.Asp79Tyr, NP_001288111.1:p.Asp79Tyr, XP_016874802.1:p.Asp79Tyr, XP_016874803.1:p.Asp79Tyr, XP_047284829.1:p.Asp179Tyr

Select item 143849712615.

rs1438497126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:109596545 (GRCh38)
12:110034350 (GRCh37)
Canonical SPDI:: NC_000012.12:109596544:A:G
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109596545A>G, NC_000012.11:g.110034350A>G, NG_007702.1:g.27851A>G, NM_000431.4:c.1159A>G, NM_000431.3:c.1159A>G, NM_000431.2:c.1159A>G, NM_001114185.3:c.1159A>G, NM_001114185.2:c.1159A>G, NM_001114185.1:c.1159A>G, NM_001301182.2:c.1003A>G, NM_001301182.1:c.1003A>G, XM_017019313.3:c.1003A>G, XM_017019313.2:c.1003A>G, XM_017019313.1:c.1003A>G, XM_017019314.2:c.1159A>G, XM_017019314.1:c.1159A>G, XM_047428873.1:c.1459A>G, XM_047428874.1:c.577A>G, NP_000422.1:p.Ser387Gly, NP_001107657.1:p.Ser387Gly, NP_001288111.1:p.Ser335Gly, XP_016874802.1:p.Ser335Gly, XP_016874803.1:p.Ser387Gly, XP_047284829.1:p.Ser487Gly, XP_047284830.1:p.Ser193Gly

Select item 143727131716.

rs1437271317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:109591297 (GRCh38)
12:110029102 (GRCh37)
Canonical SPDI:: NC_000012.12:109591296:T:C
Gene:: MVK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000012.12:g.109591297T>C, NC_000012.11:g.110029102T>C, NG_007702.1:g.22603T>C, NM_000431.4:c.825T>C, NM_000431.3:c.825T>C, NM_000431.2:c.825T>C, NM_001114185.3:c.825T>C, NM_001114185.2:c.825T>C, NM_001114185.1:c.825T>C, NM_001301182.2:c.669T>C, NM_001301182.1:c.669T>C, XM_017019313.3:c.669T>C, XM_017019313.2:c.669T>C, XM_017019313.1:c.669T>C, XM_017019314.2:c.825T>C, XM_017019314.1:c.825T>C, XM_047428873.1:c.1125T>C, XM_047428874.1:c.243T>C

Select item 142174746817.

rs1421747468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:109595096 (GRCh38)
12:110032901 (GRCh37)
Canonical SPDI:: NC_000012.12:109595095:C:G
Gene:: MVK (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109595096C>G, NC_000012.11:g.110032901C>G, NG_007702.1:g.26402C>G, NM_000431.4:c.954C>G, NM_000431.3:c.954C>G, NM_000431.2:c.954C>G, NM_001114185.3:c.954C>G, NM_001114185.2:c.954C>G, NM_001114185.1:c.954C>G, NM_001301182.2:c.798C>G, NM_001301182.1:c.798C>G, XM_017019313.3:c.798C>G, XM_017019313.2:c.798C>G, XM_017019313.1:c.798C>G, XM_017019314.2:c.954C>G, XM_017019314.1:c.954C>G, XM_047428873.1:c.1254C>G, XM_047428874.1:c.372C>G

Select item 142088003318.

rs1420880033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:109574849 (GRCh38)
12:110012654 (GRCh37)
Canonical SPDI:: NC_000012.12:109574848:T:C
Gene:: MVK (Varview), MMAB (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.109574849T>C, NC_000012.11:g.110012654T>C, NG_007702.1:g.6155T>C, NM_000431.4:c.27T>C, NM_000431.3:c.27T>C, NM_000431.2:c.27T>C, NM_001114185.3:c.27T>C, NM_001114185.2:c.27T>C, NM_001114185.1:c.27T>C, NM_001301182.2:c.27T>C, NM_001301182.1:c.27T>C, NG_007096.1:g.3649A>G, XM_017019313.3:c.27T>C, XM_017019313.2:c.27T>C, XM_017019313.1:c.27T>C, XM_017019314.2:c.27T>C, XM_017019314.1:c.27T>C, XM_047428873.1:c.327T>C, XM_047428874.1:c.-255T>C

Select item 141919486919.

rs1419194869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:109590825 (GRCh38)
12:110028630 (GRCh37)
Canonical SPDI:: NC_000012.12:109590824:G:A,NC_000012.12:109590824:G:T
Gene:: MVK (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109590825G>A, NC_000012.12:g.109590825G>T, NC_000012.11:g.110028630G>A, NC_000012.11:g.110028630G>T, NG_007702.1:g.22131G>A, NG_007702.1:g.22131G>T, NM_000431.4:c.732G>A, NM_000431.4:c.732G>T, NM_000431.3:c.732G>A, NM_000431.3:c.732G>T, NM_000431.2:c.732G>A, NM_000431.2:c.732G>T, NM_001114185.3:c.732G>A, NM_001114185.3:c.732G>T, NM_001114185.2:c.732G>A, NM_001114185.2:c.732G>T, NM_001114185.1:c.732G>A, NM_001114185.1:c.732G>T, NM_001301182.2:c.576G>A, NM_001301182.2:c.576G>T, NM_001301182.1:c.576G>A, NM_001301182.1:c.576G>T, XM_017019313.3:c.576G>A, XM_017019313.3:c.576G>T, XM_017019313.2:c.576G>A, XM_017019313.2:c.576G>T, XM_017019313.1:c.576G>A, XM_017019313.1:c.576G>T, XM_017019314.2:c.732G>A, XM_017019314.2:c.732G>T, XM_017019314.1:c.732G>A, XM_017019314.1:c.732G>T, XM_047428873.1:c.1032G>A, XM_047428873.1:c.1032G>T, XM_047428874.1:c.150G>A, XM_047428874.1:c.150G>T, NP_000422.1:p.Arg244Ser, NP_001107657.1:p.Arg244Ser, NP_001288111.1:p.Arg192Ser, XP_016874802.1:p.Arg192Ser, XP_016874803.1:p.Arg244Ser, XP_047284829.1:p.Arg344Ser, XP_047284830.1:p.Arg50Ser

Select item 141424147120.

rs1414241471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:109574852 (GRCh38)
12:110012657 (GRCh37)
Canonical SPDI:: NC_000012.12:109574851:T:C
Gene:: MVK (Varview), MMAB (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.109574852T>C, NC_000012.11:g.110012657T>C, NG_007702.1:g.6158T>C, NM_000431.4:c.30T>C, NM_000431.3:c.30T>C, NM_000431.2:c.30T>C, NM_001114185.3:c.30T>C, NM_001114185.2:c.30T>C, NM_001114185.1:c.30T>C, NM_001301182.2:c.30T>C, NM_001301182.1:c.30T>C, NG_007096.1:g.3646A>G, XM_017019313.3:c.30T>C, XM_017019313.2:c.30T>C, XM_017019313.1:c.30T>C, XM_017019314.2:c.30T>C, XM_017019314.1:c.30T>C, XM_047428873.1:c.330T>C, XM_047428874.1:c.-252T>C

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 352

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