SNP Links for Protein (Select 809281432) - SNP

Select item 14875435011.

rs1487543501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:36311606 (GRCh38)
14:36780812 (GRCh37)
Canonical SPDI:: NC_000014.9:36311605:G:T
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.36311606G>T, NC_000014.8:g.36780812G>T, XM_005267756.6:c.757C>A, XM_005267756.5:c.757C>A, XM_005267756.4:c.757C>A, XM_005267756.3:c.757C>A, XM_005267756.2:c.757C>A, XM_005267756.1:c.757C>A, XM_005267754.5:c.691C>A, XM_005267754.4:c.691C>A, XM_005267754.3:c.691C>A, XM_005267754.2:c.691C>A, XM_005267754.1:c.691C>A, NM_016586.3:c.757C>A, NM_016586.2:c.757C>A, XM_017021367.3:c.691C>A, XM_017021367.2:c.691C>A, XM_017021367.1:c.691C>A, NM_001144891.2:c.757C>A, NM_001144891.1:c.757C>A, NM_001308110.2:c.757C>A, NM_001308110.1:c.757C>A, XM_047431469.1:c.691C>A, XM_047431470.1:c.691C>A, XP_005267813.1:p.Gln253Lys, XP_005267811.1:p.Gln231Lys, NP_057670.2:p.Gln253Lys, XP_016876856.1:p.Gln231Lys, NP_001138363.1:p.Gln253Lys, NP_001295039.1:p.Gln253Lys, XP_047287425.1:p.Gln231Lys, XP_047287426.1:p.Gln231Lys

Select item 14873106652.

rs1487310665 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 14:36312021 (GRCh38)
14:36781227 (GRCh37)
Canonical SPDI:: NC_000014.9:36312020:TTTT:TTT
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
HGVS:: NC_000014.9:g.36312024del, NC_000014.8:g.36781230del, XM_005267756.6:c.575del, XM_005267756.5:c.575del, XM_005267756.4:c.575del, XM_005267756.3:c.575del, XM_005267756.2:c.575del, XM_005267756.1:c.575del, NM_016586.3:c.575del, NM_016586.2:c.575del, NM_001144891.2:c.575del, NM_001144891.1:c.575del, NM_001308110.2:c.575del, NM_001308110.1:c.575del, XP_005267813.1:p.Asn192fs, NP_057670.2:p.Asn192fs, NP_001138363.1:p.Asn192fs, NP_001295039.1:p.Asn192fs

Select item 14825938763.

rs1482593876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:36314903 (GRCh38)
14:36784109 (GRCh37)
Canonical SPDI:: NC_000014.9:36314902:T:C
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.36314903T>C, NC_000014.8:g.36784109T>C, XM_005267756.6:c.262A>G, XM_005267756.5:c.262A>G, XM_005267756.4:c.262A>G, XM_005267756.3:c.262A>G, XM_005267756.2:c.262A>G, XM_005267756.1:c.262A>G, XM_005267754.5:c.262A>G, XM_005267754.4:c.262A>G, XM_005267754.3:c.262A>G, XM_005267754.2:c.262A>G, XM_005267754.1:c.262A>G, NM_016586.3:c.262A>G, NM_016586.2:c.262A>G, XM_017021367.3:c.262A>G, XM_017021367.2:c.262A>G, XM_017021367.1:c.262A>G, NM_001144891.2:c.262A>G, NM_001144891.1:c.262A>G, NM_001308110.2:c.262A>G, NM_001308110.1:c.262A>G, XM_047431469.1:c.262A>G, XM_047431470.1:c.262A>G, XP_005267813.1:p.Lys88Glu, XP_005267811.1:p.Lys88Glu, NP_057670.2:p.Lys88Glu, XP_016876856.1:p.Lys88Glu, NP_001138363.1:p.Lys88Glu, NP_001295039.1:p.Lys88Glu, XP_047287425.1:p.Lys88Glu, XP_047287426.1:p.Lys88Glu

Select item 14759434594.

rs1475943459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:36311623 (GRCh38)
14:36780829 (GRCh37)
Canonical SPDI:: NC_000014.9:36311622:G:A
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000014.9:g.36311623G>A, NC_000014.8:g.36780829G>A, XM_005267756.6:c.740C>T, XM_005267756.5:c.740C>T, XM_005267756.4:c.740C>T, XM_005267756.3:c.740C>T, XM_005267756.2:c.740C>T, XM_005267756.1:c.740C>T, XM_005267754.5:c.674C>T, XM_005267754.4:c.674C>T, XM_005267754.3:c.674C>T, XM_005267754.2:c.674C>T, XM_005267754.1:c.674C>T, NM_016586.3:c.740C>T, NM_016586.2:c.740C>T, XM_017021367.3:c.674C>T, XM_017021367.2:c.674C>T, XM_017021367.1:c.674C>T, NM_001144891.2:c.740C>T, NM_001144891.1:c.740C>T, NM_001308110.2:c.740C>T, NM_001308110.1:c.740C>T, XM_047431469.1:c.674C>T, XM_047431470.1:c.674C>T, XP_005267813.1:p.Ala247Val, XP_005267811.1:p.Ala225Val, NP_057670.2:p.Ala247Val, XP_016876856.1:p.Ala225Val, NP_001138363.1:p.Ala247Val, NP_001295039.1:p.Ala247Val, XP_047287425.1:p.Ala225Val, XP_047287426.1:p.Ala225Val

Select item 14737128115.

rs1473712811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:36314521 (GRCh38)
14:36783727 (GRCh37)
Canonical SPDI:: NC_000014.9:36314520:A:C
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.36314521A>C, NC_000014.8:g.36783727A>C, XM_005267756.6:c.562T>G, XM_005267756.5:c.562T>G, XM_005267756.4:c.562T>G, XM_005267756.3:c.562T>G, XM_005267756.2:c.562T>G, XM_005267756.1:c.562T>G, XM_005267754.5:c.562T>G, XM_005267754.4:c.562T>G, XM_005267754.3:c.562T>G, XM_005267754.2:c.562T>G, XM_005267754.1:c.562T>G, NM_016586.3:c.562T>G, NM_016586.2:c.562T>G, XM_017021367.3:c.562T>G, XM_017021367.2:c.562T>G, XM_017021367.1:c.562T>G, NM_001144891.2:c.562T>G, NM_001144891.1:c.562T>G, NM_001308110.2:c.562T>G, NM_001308110.1:c.562T>G, XM_047431469.1:c.562T>G, XM_047431470.1:c.562T>G, XP_005267813.1:p.Cys188Gly, XP_005267811.1:p.Cys188Gly, NP_057670.2:p.Cys188Gly, XP_016876856.1:p.Cys188Gly, NP_001138363.1:p.Cys188Gly, NP_001295039.1:p.Cys188Gly, XP_047287425.1:p.Cys188Gly, XP_047287426.1:p.Cys188Gly

Select item 14730977156.

rs1473097715 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:36314524 (GRCh38)
14:36783730 (GRCh37)
Canonical SPDI:: NC_000014.9:36314523:C:
Gene:: MBIP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.36314524del, NC_000014.8:g.36783730del, XM_005267756.6:c.559del, XM_005267756.5:c.559del, XM_005267756.4:c.559del, XM_005267756.3:c.559del, XM_005267756.2:c.559del, XM_005267756.1:c.559del, XM_005267754.5:c.559del, XM_005267754.4:c.559del, XM_005267754.3:c.559del, XM_005267754.2:c.559del, XM_005267754.1:c.559del, NM_016586.3:c.559del, NM_016586.2:c.559del, XM_017021367.3:c.559del, XM_017021367.2:c.559del, XM_017021367.1:c.559del, NM_001144891.2:c.559del, NM_001144891.1:c.559del, NM_001308110.2:c.559del, NM_001308110.1:c.559del, XM_047431469.1:c.559del, XM_047431470.1:c.559del, XP_005267813.1:p.Asp187fs, XP_005267811.1:p.Asp187fs, NP_057670.2:p.Asp187fs, XP_016876856.1:p.Asp187fs, NP_001138363.1:p.Asp187fs, NP_001295039.1:p.Asp187fs, XP_047287425.1:p.Asp187fs, XP_047287426.1:p.Asp187fs

Select item 14712420527.

rs1471242052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:36320509 (GRCh38)
14:36789715 (GRCh37)
Canonical SPDI:: NC_000014.9:36320508:C:A
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.36320509C>A, NC_000014.8:g.36789715C>A, XM_005267756.6:c.80G>T, XM_005267756.5:c.80G>T, XM_005267756.4:c.80G>T, XM_005267756.3:c.80G>T, XM_005267756.2:c.80G>T, XM_005267756.1:c.80G>T, XM_005267754.5:c.80G>T, XM_005267754.4:c.80G>T, XM_005267754.3:c.80G>T, XM_005267754.2:c.80G>T, XM_005267754.1:c.80G>T, NM_016586.3:c.80G>T, NM_016586.2:c.80G>T, XM_017021367.3:c.80G>T, XM_017021367.2:c.80G>T, XM_017021367.1:c.80G>T, NM_001144891.2:c.80G>T, NM_001144891.1:c.80G>T, NM_001308110.2:c.80G>T, NM_001308110.1:c.80G>T, XM_047431469.1:c.80G>T, XM_047431470.1:c.80G>T, XP_005267813.1:p.Arg27Leu, XP_005267811.1:p.Arg27Leu, NP_057670.2:p.Arg27Leu, XP_016876856.1:p.Arg27Leu, NP_001138363.1:p.Arg27Leu, NP_001295039.1:p.Arg27Leu, XP_047287425.1:p.Arg27Leu, XP_047287426.1:p.Arg27Leu

Select item 14673473698.

rs1467347369 [Homo sapiens]

Variant type:: DEL
Alleles:: GATT>- [Show Flanks]
Chromosome:: 14:36320564 (GRCh38)
14:36789770 (GRCh37)
Canonical SPDI:: NC_000014.9:36320563:GATT:
Gene:: MBIP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.36320564_36320567del, NC_000014.8:g.36789770_36789773del, XM_005267756.6:c.22_25del, XM_005267756.5:c.22_25del, XM_005267756.4:c.22_25del, XM_005267756.3:c.22_25del, XM_005267756.2:c.22_25del, XM_005267756.1:c.22_25del, XM_005267754.5:c.22_25del, XM_005267754.4:c.22_25del, XM_005267754.3:c.22_25del, XM_005267754.2:c.22_25del, XM_005267754.1:c.22_25del, NM_016586.3:c.22_25del, NM_016586.2:c.22_25del, XM_017021367.3:c.22_25del, XM_017021367.2:c.22_25del, XM_017021367.1:c.22_25del, NM_001144891.2:c.22_25del, NM_001144891.1:c.22_25del, NM_001308110.2:c.22_25del, NM_001308110.1:c.22_25del, XM_047431469.1:c.22_25del, XM_047431470.1:c.22_25del, XP_005267813.1:p.Asn8fs, XP_005267811.1:p.Asn8fs, NP_057670.2:p.Asn8fs, XP_016876856.1:p.Asn8fs, NP_001138363.1:p.Asn8fs, NP_001295039.1:p.Asn8fs, XP_047287425.1:p.Asn8fs, XP_047287426.1:p.Asn8fs

Select item 14671432639.

rs1467143263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:36311965 (GRCh38)
14:36781171 (GRCh37)
Canonical SPDI:: NC_000014.9:36311964:C:T
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000014.9:g.36311965C>T, NC_000014.8:g.36781171C>T, XM_005267756.6:c.631G>A, XM_005267756.5:c.631G>A, XM_005267756.4:c.631G>A, XM_005267756.3:c.631G>A, XM_005267756.2:c.631G>A, XM_005267756.1:c.631G>A, NM_016586.3:c.631G>A, NM_016586.2:c.631G>A, NM_001144891.2:c.631G>A, NM_001144891.1:c.631G>A, NM_001308110.2:c.631G>A, NM_001308110.1:c.631G>A, XP_005267813.1:p.Val211Ile, NP_057670.2:p.Val211Ile, NP_001138363.1:p.Val211Ile, NP_001295039.1:p.Val211Ile

Select item 146142159910.

rs1461421599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:36311613 (GRCh38)
14:36780819 (GRCh37)
Canonical SPDI:: NC_000014.9:36311612:T:C
Gene:: MBIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.36311613T>C, NC_000014.8:g.36780819T>C, XM_005267756.6:c.750A>G, XM_005267756.5:c.750A>G, XM_005267756.4:c.750A>G, XM_005267756.3:c.750A>G, XM_005267756.2:c.750A>G, XM_005267756.1:c.750A>G, XM_005267754.5:c.684A>G, XM_005267754.4:c.684A>G, XM_005267754.3:c.684A>G, XM_005267754.2:c.684A>G, XM_005267754.1:c.684A>G, NM_016586.3:c.750A>G, NM_016586.2:c.750A>G, XM_017021367.3:c.684A>G, XM_017021367.2:c.684A>G, XM_017021367.1:c.684A>G, NM_001144891.2:c.750A>G, NM_001144891.1:c.750A>G, NM_001308110.2:c.750A>G, NM_001308110.1:c.750A>G, XM_047431469.1:c.684A>G, XM_047431470.1:c.684A>G

Select item 146054283811.

rs1460542838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:36316810 (GRCh38)
14:36786016 (GRCh37)
Canonical SPDI:: NC_000014.9:36316809:A:C
Gene:: MBIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.36316810A>C, NC_000014.8:g.36786016A>C, XM_005267756.6:c.132T>G, XM_005267756.5:c.132T>G, XM_005267756.4:c.132T>G, XM_005267756.3:c.132T>G, XM_005267756.2:c.132T>G, XM_005267756.1:c.132T>G, XM_005267754.5:c.132T>G, XM_005267754.4:c.132T>G, XM_005267754.3:c.132T>G, XM_005267754.2:c.132T>G, XM_005267754.1:c.132T>G, NM_016586.3:c.132T>G, NM_016586.2:c.132T>G, XM_017021367.3:c.132T>G, XM_017021367.2:c.132T>G, XM_017021367.1:c.132T>G, NM_001144891.2:c.132T>G, NM_001144891.1:c.132T>G, NM_001308110.2:c.132T>G, NM_001308110.1:c.132T>G, XM_047431469.1:c.132T>G, XM_047431470.1:c.132T>G

Select item 145897793512.

rs1458977935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:36314875 (GRCh38)
14:36784081 (GRCh37)
Canonical SPDI:: NC_000014.9:36314874:T:C
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
C=0.000106/2 (TOMMO)
HGVS:: NC_000014.9:g.36314875T>C, NC_000014.8:g.36784081T>C, XM_005267756.6:c.290A>G, XM_005267756.5:c.290A>G, XM_005267756.4:c.290A>G, XM_005267756.3:c.290A>G, XM_005267756.2:c.290A>G, XM_005267756.1:c.290A>G, XM_005267754.5:c.290A>G, XM_005267754.4:c.290A>G, XM_005267754.3:c.290A>G, XM_005267754.2:c.290A>G, XM_005267754.1:c.290A>G, NM_016586.3:c.290A>G, NM_016586.2:c.290A>G, XM_017021367.3:c.290A>G, XM_017021367.2:c.290A>G, XM_017021367.1:c.290A>G, NM_001144891.2:c.290A>G, NM_001144891.1:c.290A>G, NM_001308110.2:c.290A>G, NM_001308110.1:c.290A>G, XM_047431469.1:c.290A>G, XM_047431470.1:c.290A>G, XP_005267813.1:p.Asn97Ser, XP_005267811.1:p.Asn97Ser, NP_057670.2:p.Asn97Ser, XP_016876856.1:p.Asn97Ser, NP_001138363.1:p.Asn97Ser, NP_001295039.1:p.Asn97Ser, XP_047287425.1:p.Asn97Ser, XP_047287426.1:p.Asn97Ser

Select item 145779838413.

rs1457798384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:36316720 (GRCh38)
14:36785926 (GRCh37)
Canonical SPDI:: NC_000014.9:36316719:T:C
Gene:: MBIP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.36316720T>C, NC_000014.8:g.36785926T>C, XM_005267756.6:c.222A>G, XM_005267756.5:c.222A>G, XM_005267756.4:c.222A>G, XM_005267756.3:c.222A>G, XM_005267756.2:c.222A>G, XM_005267756.1:c.222A>G, XM_005267754.5:c.222A>G, XM_005267754.4:c.222A>G, XM_005267754.3:c.222A>G, XM_005267754.2:c.222A>G, XM_005267754.1:c.222A>G, NM_016586.3:c.222A>G, NM_016586.2:c.222A>G, XM_017021367.3:c.222A>G, XM_017021367.2:c.222A>G, XM_017021367.1:c.222A>G, NM_001144891.2:c.222A>G, NM_001144891.1:c.222A>G, NM_001308110.2:c.222A>G, NM_001308110.1:c.222A>G, XM_047431469.1:c.222A>G, XM_047431470.1:c.222A>G

Select item 145645768514.

rs1456457685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:36311968 (GRCh38)
14:36781174 (GRCh37)
Canonical SPDI:: NC_000014.9:36311967:G:C
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.36311968G>C, NC_000014.8:g.36781174G>C, XM_005267756.6:c.628C>G, XM_005267756.5:c.628C>G, XM_005267756.4:c.628C>G, XM_005267756.3:c.628C>G, XM_005267756.2:c.628C>G, XM_005267756.1:c.628C>G, NM_016586.3:c.628C>G, NM_016586.2:c.628C>G, NM_001144891.2:c.628C>G, NM_001144891.1:c.628C>G, NM_001308110.2:c.628C>G, NM_001308110.1:c.628C>G, XP_005267813.1:p.His210Asp, NP_057670.2:p.His210Asp, NP_001138363.1:p.His210Asp, NP_001295039.1:p.His210Asp

Select item 145381810015.

rs1453818100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:36311626 (GRCh38)
14:36780832 (GRCh37)
Canonical SPDI:: NC_000014.9:36311625:T:C
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.36311626T>C, NC_000014.8:g.36780832T>C, XM_005267756.6:c.737A>G, XM_005267756.5:c.737A>G, XM_005267756.4:c.737A>G, XM_005267756.3:c.737A>G, XM_005267756.2:c.737A>G, XM_005267756.1:c.737A>G, XM_005267754.5:c.671A>G, XM_005267754.4:c.671A>G, XM_005267754.3:c.671A>G, XM_005267754.2:c.671A>G, XM_005267754.1:c.671A>G, NM_016586.3:c.737A>G, NM_016586.2:c.737A>G, XM_017021367.3:c.671A>G, XM_017021367.2:c.671A>G, XM_017021367.1:c.671A>G, NM_001144891.2:c.737A>G, NM_001144891.1:c.737A>G, NM_001308110.2:c.737A>G, NM_001308110.1:c.737A>G, XM_047431469.1:c.671A>G, XM_047431470.1:c.671A>G, XP_005267813.1:p.Gln246Arg, XP_005267811.1:p.Gln224Arg, NP_057670.2:p.Gln246Arg, XP_016876856.1:p.Gln224Arg, NP_001138363.1:p.Gln246Arg, NP_001295039.1:p.Gln246Arg, XP_047287425.1:p.Gln224Arg, XP_047287426.1:p.Gln224Arg

Select item 144759673516.

rs1447596735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:36316750 (GRCh38)
14:36785956 (GRCh37)
Canonical SPDI:: NC_000014.9:36316749:C:T
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.36316750C>T, NC_000014.8:g.36785956C>T, XM_005267756.6:c.192G>A, XM_005267756.5:c.192G>A, XM_005267756.4:c.192G>A, XM_005267756.3:c.192G>A, XM_005267756.2:c.192G>A, XM_005267756.1:c.192G>A, XM_005267754.5:c.192G>A, XM_005267754.4:c.192G>A, XM_005267754.3:c.192G>A, XM_005267754.2:c.192G>A, XM_005267754.1:c.192G>A, NM_016586.3:c.192G>A, NM_016586.2:c.192G>A, XM_017021367.3:c.192G>A, XM_017021367.2:c.192G>A, XM_017021367.1:c.192G>A, NM_001144891.2:c.192G>A, NM_001144891.1:c.192G>A, NM_001308110.2:c.192G>A, NM_001308110.1:c.192G>A, XM_047431469.1:c.192G>A, XM_047431470.1:c.192G>A

Select item 143950399617.

rs1439503996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:36320548 (GRCh38)
14:36789754 (GRCh37)
Canonical SPDI:: NC_000014.9:36320547:T:A
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.36320548T>A, NC_000014.8:g.36789754T>A, XM_005267756.6:c.41A>T, XM_005267756.5:c.41A>T, XM_005267756.4:c.41A>T, XM_005267756.3:c.41A>T, XM_005267756.2:c.41A>T, XM_005267756.1:c.41A>T, XM_005267754.5:c.41A>T, XM_005267754.4:c.41A>T, XM_005267754.3:c.41A>T, XM_005267754.2:c.41A>T, XM_005267754.1:c.41A>T, NM_016586.3:c.41A>T, NM_016586.2:c.41A>T, XM_017021367.3:c.41A>T, XM_017021367.2:c.41A>T, XM_017021367.1:c.41A>T, NM_001144891.2:c.41A>T, NM_001144891.1:c.41A>T, NM_001308110.2:c.41A>T, NM_001308110.1:c.41A>T, XM_047431469.1:c.41A>T, XM_047431470.1:c.41A>T, XP_005267813.1:p.Asp14Val, XP_005267811.1:p.Asp14Val, NP_057670.2:p.Asp14Val, XP_016876856.1:p.Asp14Val, NP_001138363.1:p.Asp14Val, NP_001295039.1:p.Asp14Val, XP_047287425.1:p.Asp14Val, XP_047287426.1:p.Asp14Val

Select item 143871726618.

rs1438717266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:36311714 (GRCh38)
14:36780920 (GRCh37)
Canonical SPDI:: NC_000014.9:36311713:C:A
Gene:: MBIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.36311714C>A, NC_000014.8:g.36780920C>A, XM_005267756.6:c.649G>T, XM_005267756.5:c.649G>T, XM_005267756.4:c.649G>T, XM_005267756.3:c.649G>T, XM_005267756.2:c.649G>T, XM_005267756.1:c.649G>T, XM_005267754.5:c.583G>T, XM_005267754.4:c.583G>T, XM_005267754.3:c.583G>T, XM_005267754.2:c.583G>T, XM_005267754.1:c.583G>T, NM_016586.3:c.649G>T, NM_016586.2:c.649G>T, XM_017021367.3:c.583G>T, XM_017021367.2:c.583G>T, XM_017021367.1:c.583G>T, NM_001144891.2:c.649G>T, NM_001144891.1:c.649G>T, NM_001308110.2:c.649G>T, NM_001308110.1:c.649G>T, XM_047431469.1:c.583G>T, XM_047431470.1:c.583G>T, XP_005267813.1:p.Val217Leu, XP_005267811.1:p.Val195Leu, NP_057670.2:p.Val217Leu, XP_016876856.1:p.Val195Leu, NP_001138363.1:p.Val217Leu, NP_001295039.1:p.Val217Leu, XP_047287425.1:p.Val195Leu, XP_047287426.1:p.Val195Leu

Select item 143096926119.

rs1430969261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:36314894 (GRCh38)
14:36784100 (GRCh37)
Canonical SPDI:: NC_000014.9:36314893:A:G
Gene:: MBIP (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_000014.9:g.36314894A>G, NC_000014.8:g.36784100A>G, XM_005267756.6:c.271T>C, XM_005267756.5:c.271T>C, XM_005267756.4:c.271T>C, XM_005267756.3:c.271T>C, XM_005267756.2:c.271T>C, XM_005267756.1:c.271T>C, XM_005267754.5:c.271T>C, XM_005267754.4:c.271T>C, XM_005267754.3:c.271T>C, XM_005267754.2:c.271T>C, XM_005267754.1:c.271T>C, NM_016586.3:c.271T>C, NM_016586.2:c.271T>C, XM_017021367.3:c.271T>C, XM_017021367.2:c.271T>C, XM_017021367.1:c.271T>C, NM_001144891.2:c.271T>C, NM_001144891.1:c.271T>C, NM_001308110.2:c.271T>C, NM_001308110.1:c.271T>C, XM_047431469.1:c.271T>C, XM_047431470.1:c.271T>C, XP_005267813.1:p.Ser91Pro, XP_005267811.1:p.Ser91Pro, NP_057670.2:p.Ser91Pro, XP_016876856.1:p.Ser91Pro, NP_001138363.1:p.Ser91Pro, NP_001295039.1:p.Ser91Pro, XP_047287425.1:p.Ser91Pro, XP_047287426.1:p.Ser91Pro

Select item 143039754720.

rs1430397547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:36320528 (GRCh38)
14:36789734 (GRCh37)
Canonical SPDI:: NC_000014.9:36320527:A:T
Gene:: MBIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.36320528A>T, NC_000014.8:g.36789734A>T, XM_005267756.6:c.61T>A, XM_005267756.5:c.61T>A, XM_005267756.4:c.61T>A, XM_005267756.3:c.61T>A, XM_005267756.2:c.61T>A, XM_005267756.1:c.61T>A, XM_005267754.5:c.61T>A, XM_005267754.4:c.61T>A, XM_005267754.3:c.61T>A, XM_005267754.2:c.61T>A, XM_005267754.1:c.61T>A, NM_016586.3:c.61T>A, NM_016586.2:c.61T>A, XM_017021367.3:c.61T>A, XM_017021367.2:c.61T>A, XM_017021367.1:c.61T>A, NM_001144891.2:c.61T>A, NM_001144891.1:c.61T>A, NM_001308110.2:c.61T>A, NM_001308110.1:c.61T>A, XM_047431469.1:c.61T>A, XM_047431470.1:c.61T>A, XP_005267813.1:p.Cys21Ser, XP_005267811.1:p.Cys21Ser, NP_057670.2:p.Cys21Ser, XP_016876856.1:p.Cys21Ser, NP_001138363.1:p.Cys21Ser, NP_001295039.1:p.Cys21Ser, XP_047287425.1:p.Cys21Ser, XP_047287426.1:p.Cys21Ser

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Result Filters

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Publication

Function Class

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 292

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