SNP Links for Protein (Select 238624188) - SNP

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Links from Protein

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Select item 14909968501.

rs1490996850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30949133 (GRCh38)
6:30916910 (GRCh37)
Canonical SPDI:: NC_000006.12:30949132:A:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000006.12:g.30949133A>G, NC_000006.11:g.30916910A>G, NT_113891.3:g.2428708A>G, NT_113891.2:g.2428814A>G, NT_167248.2:g.2204286A>G, NT_167248.1:g.2209882A>G, NT_167245.2:g.2205440A>G, NT_167245.1:g.2211025A>G, NT_167247.2:g.2293267A>G, NT_167247.1:g.2298852A>G, NM_080870.4:c.669A>G, NM_080870.3:c.669A>G

Select item 14909322752.

rs1490932275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30950072 (GRCh38)
6:30917849 (GRCh37)
Canonical SPDI:: NC_000006.12:30950071:C:A
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30950072C>A, NC_000006.11:g.30917849C>A, NT_113891.3:g.2429647C>A, NT_113891.2:g.2429753C>A, NT_167248.2:g.2205225C>A, NT_167248.1:g.2210821C>A, NT_167245.2:g.2206379C>A, NT_167245.1:g.2211964C>A, NT_167247.2:g.2294206C>A, NT_167247.1:g.2299791C>A, NM_080870.4:c.1608C>A, NM_080870.3:c.1608C>A

Select item 14904562163.

rs1490456216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30950324 (GRCh38)
6:30918101 (GRCh37)
Canonical SPDI:: NC_000006.12:30950323:A:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30950324A>G, NC_000006.11:g.30918101A>G, NT_113891.3:g.2429899A>G, NT_113891.2:g.2430005A>G, NT_167248.2:g.2205477A>G, NT_167248.1:g.2211073A>G, NT_167245.2:g.2206631A>G, NT_167245.1:g.2212216A>G, NT_167247.2:g.2294458A>G, NT_167247.1:g.2300043A>G, NM_080870.4:c.1860A>G, NM_080870.3:c.1860A>G

Select item 14896149034.

rs1489614903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30951108 (GRCh38)
6:30918885 (GRCh37)
Canonical SPDI:: NC_000006.12:30951107:C:A
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30951108C>A, NC_000006.11:g.30918885C>A, NT_113891.3:g.2430683C>A, NT_113891.2:g.2430789C>A, NT_167248.2:g.2206261C>A, NT_167248.1:g.2211857C>A, NT_167245.2:g.2207415C>A, NT_167245.1:g.2213000C>A, NT_167247.2:g.2295242C>A, NT_167247.1:g.2300827C>A, NM_080870.4:c.2644C>A, NM_080870.3:c.2644C>A, NP_543146.2:p.His882Asn

Select item 14892612625.

rs1489261262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30950488 (GRCh38)
6:30918265 (GRCh37)
Canonical SPDI:: NC_000006.12:30950487:C:T
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00073/12 (ALFA)
T=0.00099/17 (TOMMO)
HGVS:: NC_000006.12:g.30950488C>T, NC_000006.11:g.30918265C>T, NT_113891.3:g.2430063C>T, NT_113891.2:g.2430169C>T, NT_167248.2:g.2205641C>T, NT_167248.1:g.2211237C>T, NT_167245.2:g.2206795C>T, NT_167245.1:g.2212380C>T, NT_167247.2:g.2294622C>T, NT_167247.1:g.2300207C>T, NM_080870.4:c.2024C>T, NM_080870.3:c.2024C>T, NP_543146.2:p.Ser675Phe

Select item 14891537996.

rs1489153799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:30951127 (GRCh38)
6:30918904 (GRCh37)
Canonical SPDI:: NC_000006.12:30951126:T:A,NC_000006.12:30951126:T:C
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.0006/4 (1000Genomes)
HGVS:: NC_000006.12:g.30951127T>A, NC_000006.12:g.30951127T>C, NC_000006.11:g.30918904T>A, NC_000006.11:g.30918904T>C, NT_113891.3:g.2430702T>A, NT_113891.3:g.2430702T>C, NT_113891.2:g.2430808T>A, NT_113891.2:g.2430808T>C, NT_167248.2:g.2206280T>A, NT_167248.2:g.2206280T>C, NT_167248.1:g.2211876T>A, NT_167248.1:g.2211876T>C, NT_167245.2:g.2207434T>A, NT_167245.2:g.2207434T>C, NT_167245.1:g.2213019T>A, NT_167245.1:g.2213019T>C, NT_167247.2:g.2295261T>A, NT_167247.2:g.2295261T>C, NT_167247.1:g.2300846T>A, NT_167247.1:g.2300846T>C, NM_080870.4:c.2663T>A, NM_080870.4:c.2663T>C, NM_080870.3:c.2663T>A, NM_080870.3:c.2663T>C, NP_543146.2:p.Leu888Ter, NP_543146.2:p.Leu888Ser

Select item 14889451917.

rs1488945191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30951477 (GRCh38)
6:30919254 (GRCh37)
Canonical SPDI:: NC_000006.12:30951476:G:A
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.00046/13 (TOMMO)
A=0.007529/22 (KOREAN)
HGVS:: NC_000006.12:g.30951477G>A, NC_000006.11:g.30919254G>A, NT_113891.3:g.2431052G>A, NT_113891.2:g.2431158G>A, NT_167248.2:g.2206630G>A, NT_167248.1:g.2212226G>A, NT_167245.2:g.2207784G>A, NT_167245.1:g.2213369G>A, NM_080870.4:c.3013G>A, NM_080870.3:c.3013G>A, NP_543146.2:p.Gly1005Arg

Select item 14886422848.

rs1488642284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30951233 (GRCh38)
6:30919010 (GRCh37)
Canonical SPDI:: NC_000006.12:30951232:A:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.30951233A>G, NC_000006.11:g.30919010A>G, NT_113891.3:g.2430808A>G, NT_113891.2:g.2430914A>G, NT_167248.2:g.2206386A>G, NT_167248.1:g.2211982A>G, NT_167245.2:g.2207540A>G, NT_167245.1:g.2213125A>G, NM_080870.4:c.2769A>G, NM_080870.3:c.2769A>G

Select item 14882839949.

rs1488283994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30950949 (GRCh38)
6:30918726 (GRCh37)
Canonical SPDI:: NC_000006.12:30950948:A:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000025/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30950949A>G, NC_000006.11:g.30918726A>G, NT_113891.3:g.2430524A>G, NT_113891.2:g.2430630A>G, NT_167248.2:g.2206102A>G, NT_167248.1:g.2211698A>G, NT_167245.2:g.2207256A>G, NT_167245.1:g.2212841A>G, NT_167247.2:g.2295083A>G, NT_167247.1:g.2300668A>G, NM_080870.4:c.2485A>G, NM_080870.3:c.2485A>G, NP_543146.2:p.Thr829Ala

Select item 148717988910.

rs1487179889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30951154 (GRCh38)
6:30918931 (GRCh37)
Canonical SPDI:: NC_000006.12:30951153:C:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.30951154C>G, NC_000006.11:g.30918931C>G, NT_113891.3:g.2430729C>G, NT_113891.2:g.2430835C>G, NT_167248.2:g.2206307C>G, NT_167248.1:g.2211903C>G, NT_167245.2:g.2207461C>G, NT_167245.1:g.2213046C>G, NM_080870.4:c.2690C>G, NM_080870.3:c.2690C>G, NP_543146.2:p.Pro897Arg

Select item 148646703511.

rs1486467035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30949175 (GRCh38)
6:30916952 (GRCh37)
Canonical SPDI:: NC_000006.12:30949174:C:T
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30949175C>T, NC_000006.11:g.30916952C>T, NT_113891.3:g.2428750C>T, NT_113891.2:g.2428856C>T, NT_167248.2:g.2204328C>T, NT_167248.1:g.2209924C>T, NT_167245.2:g.2205482C>T, NT_167245.1:g.2211067C>T, NT_167247.2:g.2293309C>T, NT_167247.1:g.2298894C>T, NM_080870.4:c.711C>T, NM_080870.3:c.711C>T

Select item 148581041012.

rs1485810410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30949981 (GRCh38)
6:30917758 (GRCh37)
Canonical SPDI:: NC_000006.12:30949980:C:T
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30949981C>T, NC_000006.11:g.30917758C>T, NT_113891.3:g.2429556C>T, NT_113891.2:g.2429662C>T, NT_167248.2:g.2205134C>T, NT_167248.1:g.2210730C>T, NT_167245.2:g.2206288C>T, NT_167245.1:g.2211873C>T, NT_167247.2:g.2294115C>T, NT_167247.1:g.2299700C>T, NM_080870.4:c.1517C>T, NM_080870.3:c.1517C>T, NP_543146.2:p.Pro506Leu

Select item 148493969613.

rs1484939696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30950224 (GRCh38)
6:30918001 (GRCh37)
Canonical SPDI:: NC_000006.12:30950223:C:T
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30950224C>T, NC_000006.11:g.30918001C>T, NT_113891.3:g.2429799C>T, NT_113891.2:g.2429905C>T, NT_167248.2:g.2205377C>T, NT_167248.1:g.2210973C>T, NT_167245.2:g.2206531C>T, NT_167245.1:g.2212116C>T, NT_167247.2:g.2294358C>T, NT_167247.1:g.2299943C>T, NM_080870.4:c.1760C>T, NM_080870.3:c.1760C>T, NP_543146.2:p.Thr587Ile

Select item 148355097714.

rs1483550977 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 6:30949397 (GRCh38)
6:30917175 (GRCh37)
Canonical SPDI:: NC_000006.12:30949397::TTT
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,intron_variant
Validated:: by frequency,by cluster
MAF:: TTT=0.00007/2 (TOMMO)
HGVS:: NC_000006.12:g.30949397_30949398insTTT, NC_000006.11:g.30917174_30917175insTTT, NT_113891.3:g.2428972_2428973insTTT, NT_113891.2:g.2429078_2429079insTTT, NT_167248.2:g.2204550_2204551insTTT, NT_167248.1:g.2210146_2210147insTTT, NT_167245.2:g.2205704_2205705insTTT, NT_167245.1:g.2211289_2211290insTTT, NT_167247.2:g.2293531_2293532insTTT, NT_167247.1:g.2299116_2299117insTTT, NM_080870.4:c.933_934insTTT, NM_080870.3:c.933_934insTTT, NP_543146.2:p.Ala312_Asn313insPhe

Select item 148258713215.

rs1482587132 [Homo sapiens]

Variant type:: DEL
Alleles:: CCC>- [Show Flanks]
Chromosome:: 6:30951763 (GRCh38)
6:30919540 (GRCh37)
Canonical SPDI:: NC_000006.12:30951762:CCC:
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30951763_30951765del, NC_000006.11:g.30919540_30919542del, NT_113891.3:g.2431338_2431340del, NT_113891.2:g.2431444_2431446del, NT_167248.2:g.2206916_2206918del, NT_167248.1:g.2212512_2212514del, NT_167245.2:g.2208070_2208072del, NT_167245.1:g.2213655_2213657del, NM_080870.4:c.3299_3301del, NM_080870.3:c.3299_3301del, NP_543146.2:p.Ser1100del

Select item 148249748916.

rs1482497489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:30950856 (GRCh38)
6:30918633 (GRCh37)
Canonical SPDI:: NC_000006.12:30950855:T:C,NC_000006.12:30950855:T:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
C=0.000212/6 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.30950856T>C, NC_000006.12:g.30950856T>G, NC_000006.11:g.30918633T>C, NC_000006.11:g.30918633T>G, NT_113891.3:g.2430431T>C, NT_113891.3:g.2430431T>G, NT_113891.2:g.2430537T>C, NT_113891.2:g.2430537T>G, NT_167248.2:g.2206009T>C, NT_167248.2:g.2206009T>G, NT_167248.1:g.2211605T>C, NT_167248.1:g.2211605T>G, NT_167245.2:g.2207163T>C, NT_167245.2:g.2207163T>G, NT_167245.1:g.2212748T>C, NT_167245.1:g.2212748T>G, NT_167247.2:g.2294990T>C, NT_167247.2:g.2294990T>G, NT_167247.1:g.2300575T>C, NT_167247.1:g.2300575T>G, NM_080870.4:c.2392T>C, NM_080870.4:c.2392T>G, NM_080870.3:c.2392T>C, NM_080870.3:c.2392T>G, NP_543146.2:p.Ser798Pro, NP_543146.2:p.Ser798Ala

Select item 148142504417.

rs1481425044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30949202 (GRCh38)
6:30916979 (GRCh37)
Canonical SPDI:: NC_000006.12:30949201:A:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30949202A>G, NC_000006.11:g.30916979A>G, NT_113891.3:g.2428777A>G, NT_113891.2:g.2428883A>G, NT_167248.2:g.2204355A>G, NT_167248.1:g.2209951A>G, NT_167245.2:g.2205509A>G, NT_167245.1:g.2211094A>G, NT_167247.2:g.2293336A>G, NT_167247.1:g.2298921A>G, NM_080870.4:c.738A>G, NM_080870.3:c.738A>G

Select item 148073530518.

rs1480735305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:30949894 (GRCh38)
6:30917671 (GRCh37)
Canonical SPDI:: NC_000006.12:30949893:T:A,NC_000006.12:30949893:T:C,NC_000006.12:30949893:T:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.035382/1324 (ALFA)
C=0.000014/2 (GnomAD_exomes)
C=0.006048/417 (GnomAD)
C=0.044832/131 (KOREAN)
C=0.105675/1769 (TOMMO)
HGVS:: NC_000006.12:g.30949894T>A, NC_000006.12:g.30949894T>C, NC_000006.12:g.30949894T>G, NC_000006.11:g.30917671T>A, NC_000006.11:g.30917671T>C, NC_000006.11:g.30917671T>G, NT_113891.3:g.2429469T>A, NT_113891.3:g.2429469T>C, NT_113891.3:g.2429469T>G, NT_113891.2:g.2429575T>A, NT_113891.2:g.2429575T>C, NT_113891.2:g.2429575T>G, NT_167248.2:g.2205047T>A, NT_167248.2:g.2205047T>C, NT_167248.2:g.2205047T>G, NT_167248.1:g.2210643T>A, NT_167248.1:g.2210643T>C, NT_167248.1:g.2210643T>G, NT_167245.2:g.2206201T>A, NT_167245.2:g.2206201T>C, NT_167245.2:g.2206201T>G, NT_167245.1:g.2211786T>A, NT_167245.1:g.2211786T>C, NT_167245.1:g.2211786T>G, NT_167247.2:g.2294028T>A, NT_167247.2:g.2294028T>C, NT_167247.2:g.2294028T>G, NT_167247.1:g.2299613T>A, NT_167247.1:g.2299613T>C, NT_167247.1:g.2299613T>G, NM_080870.4:c.1430T>A, NM_080870.4:c.1430T>C, NM_080870.4:c.1430T>G, NM_080870.3:c.1430T>A, NM_080870.3:c.1430T>C, NM_080870.3:c.1430T>G, NP_543146.2:p.Val477Glu, NP_543146.2:p.Val477Ala, NP_543146.2:p.Val477Gly

Select item 148064525619.

rs1480645256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30948873 (GRCh38)
6:30916650 (GRCh37)
Canonical SPDI:: NC_000006.12:30948872:C:G
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30948873C>G, NC_000006.11:g.30916650C>G, NT_113891.3:g.2428448C>G, NT_113891.2:g.2428554C>G, NT_167248.2:g.2204026C>G, NT_167248.1:g.2209622C>G, NT_167245.2:g.2205180C>G, NT_167245.1:g.2210765C>G, NT_167247.2:g.2293007C>G, NT_167247.1:g.2298592C>G, NM_080870.4:c.409C>G, NM_080870.3:c.409C>G, NP_543146.2:p.Gln137Glu

Select item 148058539720.

rs1480585397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30951282 (GRCh38)
6:30919059 (GRCh37)
Canonical SPDI:: NC_000006.12:30951281:G:A
Gene:: MUCL3 (Varview), HCG21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003132/14 (ALFA)
A=0.00003/4 (GnomAD)
A=0.000531/9 (TOMMO)
A=0.00308/9 (KOREAN)
HGVS:: NC_000006.12:g.30951282G>A, NC_000006.11:g.30919059G>A, NT_113891.3:g.2430857G>A, NT_113891.2:g.2430963G>A, NT_167248.2:g.2206435G>A, NT_167248.1:g.2212031G>A, NT_167245.2:g.2207589G>A, NT_167245.1:g.2213174G>A, NM_080870.4:c.2818G>A, NM_080870.3:c.2818G>A, NP_543146.2:p.Ala940Thr

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