SNP Links for Protein (Select 54144627) - SNP

Select item 14889685791.

rs1488968579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:73276723 (GRCh38)
14:73743431 (GRCh37)
Canonical SPDI:: NC_000014.9:73276722:G:A,NC_000014.9:73276722:G:C
Gene:: NUMB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73276723G>A, NC_000014.9:g.73276723G>C, NC_000014.8:g.73743431G>A, NC_000014.8:g.73743431G>C, NG_029061.2:g.186858C>T, NG_029061.2:g.186858C>G, NM_003744.6:c.1778C>T, NM_003744.6:c.1778C>G, NM_003744.5:c.1778C>T, NM_003744.5:c.1778C>G, NM_001005743.2:c.1811C>T, NM_001005743.2:c.1811C>G, NM_001005743.1:c.1811C>T, NM_001005743.1:c.1811C>G, NM_001320114.2:c.1667C>T, NM_001320114.2:c.1667C>G, NM_001320114.1:c.1667C>T, NM_001320114.1:c.1667C>G, NM_001005744.2:c.1667C>T, NM_001005744.2:c.1667C>G, NM_001005744.1:c.1667C>T, NM_001005744.1:c.1667C>G, NM_001005745.2:c.1634C>T, NM_001005745.2:c.1634C>G, NM_001005745.1:c.1634C>T, NM_001005745.1:c.1634C>G, NP_003735.3:p.Thr593Ile, NP_003735.3:p.Thr593Arg, NP_001005743.1:p.Thr604Ile, NP_001005743.1:p.Thr604Arg, NP_001307043.1:p.Thr556Ile, NP_001307043.1:p.Thr556Arg, NP_001005744.1:p.Thr556Ile, NP_001005744.1:p.Thr556Arg, NP_001005745.1:p.Thr545Ile, NP_001005745.1:p.Thr545Arg

Select item 14868014912.

rs1486801491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73276884 (GRCh38)
14:73743592 (GRCh37)
Canonical SPDI:: NC_000014.9:73276883:G:A
Gene:: NUMB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73276884G>A, NC_000014.8:g.73743592G>A, NG_029061.2:g.186697C>T, NM_003744.6:c.1617C>T, NM_003744.5:c.1617C>T, NM_001005743.2:c.1650C>T, NM_001005743.1:c.1650C>T, NM_001320114.2:c.1506C>T, NM_001320114.1:c.1506C>T, NM_001005744.2:c.1506C>T, NM_001005744.1:c.1506C>T, NM_001005745.2:c.1473C>T, NM_001005745.1:c.1473C>T

Select item 14850741373.

rs1485074137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:73284155 (GRCh38)
14:73750863 (GRCh37)
Canonical SPDI:: NC_000014.9:73284154:C:A,NC_000014.9:73284154:C:T
Gene:: NUMB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73284155C>A, NC_000014.9:g.73284155C>T, NC_000014.8:g.73750863C>A, NC_000014.8:g.73750863C>T, NG_029061.2:g.179426G>T, NG_029061.2:g.179426G>A, NM_003744.6:c.842G>T, NM_003744.6:c.842G>A, NM_003744.5:c.842G>T, NM_003744.5:c.842G>A, NM_001005743.2:c.875G>T, NM_001005743.2:c.875G>A, NM_001005743.1:c.875G>T, NM_001005743.1:c.875G>A, NM_001320114.2:c.875G>T, NM_001320114.2:c.875G>A, NM_001320114.1:c.875G>T, NM_001320114.1:c.875G>A, NM_001005744.2:c.875G>T, NM_001005744.2:c.875G>A, NM_001005744.1:c.875G>T, NM_001005744.1:c.875G>A, NM_001005745.2:c.842G>T, NM_001005745.2:c.842G>A, NM_001005745.1:c.842G>T, NM_001005745.1:c.842G>A, NP_003735.3:p.Arg281Leu, NP_003735.3:p.Arg281His, NP_001005743.1:p.Arg292Leu, NP_001005743.1:p.Arg292His, NP_001307043.1:p.Arg292Leu, NP_001307043.1:p.Arg292His, NP_001005744.1:p.Arg292Leu, NP_001005744.1:p.Arg292His, NP_001005745.1:p.Arg281Leu, NP_001005745.1:p.Arg281His

Select item 14817480434.

rs1481748043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:73282456 (GRCh38)
14:73749164 (GRCh37)
Canonical SPDI:: NC_000014.9:73282455:C:A
Gene:: NUMB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73282456C>A, NC_000014.8:g.73749164C>A, NG_029061.2:g.181125G>T, NM_003744.6:c.966G>T, NM_003744.5:c.966G>T, NM_001005743.2:c.999G>T, NM_001005743.1:c.999G>T, NM_001320114.2:c.999G>T, NM_001320114.1:c.999G>T, NM_001005744.2:c.999G>T, NM_001005744.1:c.999G>T, NM_001005745.2:c.966G>T, NM_001005745.1:c.966G>T, NP_003735.3:p.Gln322His, NP_001005743.1:p.Gln333His, NP_001307043.1:p.Gln333His, NP_001005744.1:p.Gln333His, NP_001005745.1:p.Gln322His

Select item 14770924775.

rs1477092477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:73292774 (GRCh38)
14:73759482 (GRCh37)
Canonical SPDI:: NC_000014.9:73292773:C:A,NC_000014.9:73292773:C:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.73292774C>A, NC_000014.9:g.73292774C>T, NC_000014.8:g.73759482C>A, NC_000014.8:g.73759482C>T, NG_029061.2:g.170807G>T, NG_029061.2:g.170807G>A, NM_003744.6:c.377G>T, NM_003744.6:c.377G>A, NM_003744.5:c.377G>T, NM_003744.5:c.377G>A, NM_001005743.2:c.410G>T, NM_001005743.2:c.410G>A, NM_001005743.1:c.410G>T, NM_001005743.1:c.410G>A, NM_001320114.2:c.410G>T, NM_001320114.2:c.410G>A, NM_001320114.1:c.410G>T, NM_001320114.1:c.410G>A, NM_001005744.2:c.410G>T, NM_001005744.2:c.410G>A, NM_001005744.1:c.410G>T, NM_001005744.1:c.410G>A, NM_001005745.2:c.377G>T, NM_001005745.2:c.377G>A, NM_001005745.1:c.377G>T, NM_001005745.1:c.377G>A, NP_003735.3:p.Arg126Leu, NP_003735.3:p.Arg126His, NP_001005743.1:p.Arg137Leu, NP_001005743.1:p.Arg137His, NP_001307043.1:p.Arg137Leu, NP_001307043.1:p.Arg137His, NP_001005744.1:p.Arg137Leu, NP_001005744.1:p.Arg137His, NP_001005745.1:p.Arg126Leu, NP_001005745.1:p.Arg126His

Select item 14758620586.

rs1475862058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:73276820 (GRCh38)
14:73743528 (GRCh37)
Canonical SPDI:: NC_000014.9:73276819:T:C,NC_000014.9:73276819:T:G
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.73276820T>C, NC_000014.9:g.73276820T>G, NC_000014.8:g.73743528T>C, NC_000014.8:g.73743528T>G, NG_029061.2:g.186761A>G, NG_029061.2:g.186761A>C, NM_003744.6:c.1681A>G, NM_003744.6:c.1681A>C, NM_003744.5:c.1681A>G, NM_003744.5:c.1681A>C, NM_001005743.2:c.1714A>G, NM_001005743.2:c.1714A>C, NM_001005743.1:c.1714A>G, NM_001005743.1:c.1714A>C, NM_001320114.2:c.1570A>G, NM_001320114.2:c.1570A>C, NM_001320114.1:c.1570A>G, NM_001320114.1:c.1570A>C, NM_001005744.2:c.1570A>G, NM_001005744.2:c.1570A>C, NM_001005744.1:c.1570A>G, NM_001005744.1:c.1570A>C, NM_001005745.2:c.1537A>G, NM_001005745.2:c.1537A>C, NM_001005745.1:c.1537A>G, NM_001005745.1:c.1537A>C, NP_003735.3:p.Thr561Ala, NP_003735.3:p.Thr561Pro, NP_001005743.1:p.Thr572Ala, NP_001005743.1:p.Thr572Pro, NP_001307043.1:p.Thr524Ala, NP_001307043.1:p.Thr524Pro, NP_001005744.1:p.Thr524Ala, NP_001005744.1:p.Thr524Pro, NP_001005745.1:p.Thr513Ala, NP_001005745.1:p.Thr513Pro

Select item 14743093697.

rs1474309369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73277039 (GRCh38)
14:73743747 (GRCh37)
Canonical SPDI:: NC_000014.9:73277038:G:A
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73277039G>A, NC_000014.8:g.73743747G>A, NG_029061.2:g.186542C>T, NM_003744.6:c.1462C>T, NM_003744.5:c.1462C>T, NM_001005743.2:c.1495C>T, NM_001005743.1:c.1495C>T, NM_001320114.2:c.1351C>T, NM_001320114.1:c.1351C>T, NM_001005744.2:c.1351C>T, NM_001005744.1:c.1351C>T, NM_001005745.2:c.1318C>T, NM_001005745.1:c.1318C>T, NP_003735.3:p.Pro488Ser, NP_001005743.1:p.Pro499Ser, NP_001307043.1:p.Pro451Ser, NP_001005744.1:p.Pro451Ser, NP_001005745.1:p.Pro440Ser

Select item 14738568648.

rs1473856864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:73276597 (GRCh38)
14:73743305 (GRCh37)
Canonical SPDI:: NC_000014.9:73276596:G:A,NC_000014.9:73276596:G:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.73276597G>A, NC_000014.9:g.73276597G>T, NC_000014.8:g.73743305G>A, NC_000014.8:g.73743305G>T, NG_029061.2:g.186984C>T, NG_029061.2:g.186984C>A, NM_003744.6:c.1904C>T, NM_003744.6:c.1904C>A, NM_003744.5:c.1904C>T, NM_003744.5:c.1904C>A, NM_001005743.2:c.1937C>T, NM_001005743.2:c.1937C>A, NM_001005743.1:c.1937C>T, NM_001005743.1:c.1937C>A, NM_001320114.2:c.1793C>T, NM_001320114.2:c.1793C>A, NM_001320114.1:c.1793C>T, NM_001320114.1:c.1793C>A, NM_001005744.2:c.1793C>T, NM_001005744.2:c.1793C>A, NM_001005744.1:c.1793C>T, NM_001005744.1:c.1793C>A, NM_001005745.2:c.1760C>T, NM_001005745.2:c.1760C>A, NM_001005745.1:c.1760C>T, NM_001005745.1:c.1760C>A, NP_003735.3:p.Thr635Met, NP_003735.3:p.Thr635Lys, NP_001005743.1:p.Thr646Met, NP_001005743.1:p.Thr646Lys, NP_001307043.1:p.Thr598Met, NP_001307043.1:p.Thr598Lys, NP_001005744.1:p.Thr598Met, NP_001005744.1:p.Thr598Lys, NP_001005745.1:p.Thr587Met, NP_001005745.1:p.Thr587Lys

Select item 14722195289.

rs1472219528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73276891 (GRCh38)
14:73743599 (GRCh37)
Canonical SPDI:: NC_000014.9:73276890:G:A
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.73276891G>A, NC_000014.8:g.73743599G>A, NG_029061.2:g.186690C>T, NM_003744.6:c.1610C>T, NM_003744.5:c.1610C>T, NM_001005743.2:c.1643C>T, NM_001005743.1:c.1643C>T, NM_001320114.2:c.1499C>T, NM_001320114.1:c.1499C>T, NM_001005744.2:c.1499C>T, NM_001005744.1:c.1499C>T, NM_001005745.2:c.1466C>T, NM_001005745.1:c.1466C>T, NP_003735.3:p.Ala537Val, NP_001005743.1:p.Ala548Val, NP_001307043.1:p.Ala500Val, NP_001005744.1:p.Ala500Val, NP_001005745.1:p.Ala489Val

Select item 147219333210.

rs1472193332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:73277120 (GRCh38)
14:73743828 (GRCh37)
Canonical SPDI:: NC_000014.9:73277119:G:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73277120G>T, NC_000014.8:g.73743828G>T, NG_029061.2:g.186461C>A, NM_003744.6:c.1381C>A, NM_003744.5:c.1381C>A, NM_001005743.2:c.1414C>A, NM_001005743.1:c.1414C>A, NM_001320114.2:c.1270C>A, NM_001320114.1:c.1270C>A, NM_001005744.2:c.1270C>A, NM_001005744.1:c.1270C>A, NM_001005745.2:c.1237C>A, NM_001005745.1:c.1237C>A, NP_003735.3:p.Pro461Thr, NP_001005743.1:p.Pro472Thr, NP_001307043.1:p.Pro424Thr, NP_001005744.1:p.Pro424Thr, NP_001005745.1:p.Pro413Thr

Select item 147049376311.

rs1470493763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:73276960 (GRCh38)
14:73743668 (GRCh37)
Canonical SPDI:: NC_000014.9:73276959:G:A
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.73276960G>A, NC_000014.8:g.73743668G>A, NG_029061.2:g.186621C>T, NM_003744.6:c.1541C>T, NM_003744.5:c.1541C>T, NM_001005743.2:c.1574C>T, NM_001005743.1:c.1574C>T, NM_001320114.2:c.1430C>T, NM_001320114.1:c.1430C>T, NM_001005744.2:c.1430C>T, NM_001005744.1:c.1430C>T, NM_001005745.2:c.1397C>T, NM_001005745.1:c.1397C>T, NP_003735.3:p.Pro514Leu, NP_001005743.1:p.Pro525Leu, NP_001307043.1:p.Pro477Leu, NP_001005744.1:p.Pro477Leu, NP_001005745.1:p.Pro466Leu

Select item 146946427212.

rs1469464272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:73287196 (GRCh38)
14:73753904 (GRCh37)
Canonical SPDI:: NC_000014.9:73287195:G:C
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000014.9:g.73287196G>C, NC_000014.8:g.73753904G>C, NG_029061.2:g.176385C>G, NM_003744.6:c.536C>G, NM_003744.5:c.536C>G, NM_001005743.2:c.569C>G, NM_001005743.1:c.569C>G, NM_001320114.2:c.569C>G, NM_001320114.1:c.569C>G, NM_001005744.2:c.569C>G, NM_001005744.1:c.569C>G, NM_001005745.2:c.536C>G, NM_001005745.1:c.536C>G, NP_003735.3:p.Thr179Arg, NP_001005743.1:p.Thr190Arg, NP_001307043.1:p.Thr190Arg, NP_001005744.1:p.Thr190Arg, NP_001005745.1:p.Thr179Arg

Select item 146696661113.

rs1466966611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:73316422 (GRCh38)
14:73783130 (GRCh37)
Canonical SPDI:: NC_000014.9:73316421:C:A,NC_000014.9:73316421:C:T
Gene:: NUMB (Varview)
Functional Consequence:: stop_gained,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.73316422C>A, NC_000014.9:g.73316422C>T, NC_000014.8:g.73783130C>A, NC_000014.8:g.73783130C>T, NG_029061.2:g.147159G>T, NG_029061.2:g.147159G>A, NM_001005743.2:c.202G>T, NM_001005743.2:c.202G>A, NM_001005743.1:c.202G>T, NM_001005743.1:c.202G>A, NM_001320114.2:c.202G>T, NM_001320114.2:c.202G>A, NM_001320114.1:c.202G>T, NM_001320114.1:c.202G>A, NM_001005744.2:c.202G>T, NM_001005744.2:c.202G>A, NM_001005744.1:c.202G>T, NM_001005744.1:c.202G>A, NP_001005743.1:p.Glu68Ter, NP_001005743.1:p.Glu68Lys, NP_001307043.1:p.Glu68Ter, NP_001307043.1:p.Glu68Lys, NP_001005744.1:p.Glu68Ter, NP_001005744.1:p.Glu68Lys

Select item 146661718014.

rs1466617180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:73284313 (GRCh38)
14:73751021 (GRCh37)
Canonical SPDI:: NC_000014.9:73284312:T:C
Gene:: NUMB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.73284313T>C, NC_000014.8:g.73751021T>C, NG_029061.2:g.179268A>G, NM_003744.6:c.684A>G, NM_003744.5:c.684A>G, NM_001005743.2:c.717A>G, NM_001005743.1:c.717A>G, NM_001320114.2:c.717A>G, NM_001320114.1:c.717A>G, NM_001005744.2:c.717A>G, NM_001005744.1:c.717A>G, NM_001005745.2:c.684A>G, NM_001005745.1:c.684A>G

Select item 146643661915.

rs1466436619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73284341 (GRCh38)
14:73751049 (GRCh37)
Canonical SPDI:: NC_000014.9:73284340:A:G
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.73284341A>G, NC_000014.8:g.73751049A>G, NG_029061.2:g.179240T>C, NM_003744.6:c.656T>C, NM_003744.5:c.656T>C, NM_001005743.2:c.689T>C, NM_001005743.1:c.689T>C, NM_001320114.2:c.689T>C, NM_001320114.1:c.689T>C, NM_001005744.2:c.689T>C, NM_001005744.1:c.689T>C, NM_001005745.2:c.656T>C, NM_001005745.1:c.656T>C, NP_003735.3:p.Val219Ala, NP_001005743.1:p.Val230Ala, NP_001307043.1:p.Val230Ala, NP_001005744.1:p.Val230Ala, NP_001005745.1:p.Val219Ala

Select item 146436750616.

rs1464367506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:73355713 (GRCh38)
14:73822421 (GRCh37)
Canonical SPDI:: NC_000014.9:73355712:A:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.73355713A>T, NC_000014.8:g.73822421A>T, NG_029061.2:g.107868T>A, NM_003744.6:c.39T>A, NM_003744.5:c.39T>A, NM_001005743.2:c.39T>A, NM_001005743.1:c.39T>A, NM_001320114.2:c.39T>A, NM_001320114.1:c.39T>A, NM_001005744.2:c.39T>A, NM_001005744.1:c.39T>A, NM_001005745.2:c.39T>A, NM_001005745.1:c.39T>A, NP_003735.3:p.Asp13Glu, NP_001005743.1:p.Asp13Glu, NP_001307043.1:p.Asp13Glu, NP_001005744.1:p.Asp13Glu, NP_001005745.1:p.Asp13Glu

Select item 146422517417.

rs1464225174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73355649 (GRCh38)
14:73822357 (GRCh37)
Canonical SPDI:: NC_000014.9:73355648:C:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73355649C>T, NC_000014.8:g.73822357C>T, NG_029061.2:g.107932G>A, NM_003744.6:c.103G>A, NM_003744.5:c.103G>A, NM_001005743.2:c.103G>A, NM_001005743.1:c.103G>A, NM_001320114.2:c.103G>A, NM_001320114.1:c.103G>A, NM_001005744.2:c.103G>A, NM_001005744.1:c.103G>A, NM_001005745.2:c.103G>A, NM_001005745.1:c.103G>A, NP_003735.3:p.Gly35Arg, NP_001005743.1:p.Gly35Arg, NP_001307043.1:p.Gly35Arg, NP_001005744.1:p.Gly35Arg, NP_001005745.1:p.Gly35Arg

Select item 145860672418.

rs1458606724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:73277089 (GRCh38)
14:73743797 (GRCh37)
Canonical SPDI:: NC_000014.9:73277088:A:C
Gene:: NUMB (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=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.73277089A>C, NC_000014.8:g.73743797A>C, NG_029061.2:g.186492T>G, NM_003744.6:c.1412T>G, NM_003744.5:c.1412T>G, NM_001005743.2:c.1445T>G, NM_001005743.1:c.1445T>G, NM_001320114.2:c.1301T>G, NM_001320114.1:c.1301T>G, NM_001005744.2:c.1301T>G, NM_001005744.1:c.1301T>G, NM_001005745.2:c.1268T>G, NM_001005745.1:c.1268T>G, NP_003735.3:p.Phe471Cys, NP_001005743.1:p.Phe482Cys, NP_001307043.1:p.Phe434Cys, NP_001005744.1:p.Phe434Cys, NP_001005745.1:p.Phe423Cys

Select item 145819056119.

rs1458190561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73282485 (GRCh38)
14:73749193 (GRCh37)
Canonical SPDI:: NC_000014.9:73282484:C:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000014.9:g.73282485C>T, NC_000014.8:g.73749193C>T, NG_029061.2:g.181096G>A, NM_003744.6:c.937G>A, NM_003744.5:c.937G>A, NM_001005743.2:c.970G>A, NM_001005743.1:c.970G>A, NM_001320114.2:c.970G>A, NM_001320114.1:c.970G>A, NM_001005744.2:c.970G>A, NM_001005744.1:c.970G>A, NM_001005745.2:c.937G>A, NM_001005745.1:c.937G>A, NP_003735.3:p.Ala313Thr, NP_001005743.1:p.Ala324Thr, NP_001307043.1:p.Ala324Thr, NP_001005744.1:p.Ala324Thr, NP_001005745.1:p.Ala313Thr

Select item 145626904320.

rs1456269043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:73276772 (GRCh38)
14:73743480 (GRCh37)
Canonical SPDI:: NC_000014.9:73276771:C:A,NC_000014.9:73276771:C:T
Gene:: NUMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73276772C>A, NC_000014.9:g.73276772C>T, NC_000014.8:g.73743480C>A, NC_000014.8:g.73743480C>T, NG_029061.2:g.186809G>T, NG_029061.2:g.186809G>A, NM_003744.6:c.1729G>T, NM_003744.6:c.1729G>A, NM_003744.5:c.1729G>T, NM_003744.5:c.1729G>A, NM_001005743.2:c.1762G>T, NM_001005743.2:c.1762G>A, NM_001005743.1:c.1762G>T, NM_001005743.1:c.1762G>A, NM_001320114.2:c.1618G>T, NM_001320114.2:c.1618G>A, NM_001320114.1:c.1618G>T, NM_001320114.1:c.1618G>A, NM_001005744.2:c.1618G>T, NM_001005744.2:c.1618G>A, NM_001005744.1:c.1618G>T, NM_001005744.1:c.1618G>A, NM_001005745.2:c.1585G>T, NM_001005745.2:c.1585G>A, NM_001005745.1:c.1585G>T, NM_001005745.1:c.1585G>A, NP_003735.3:p.Ala577Ser, NP_003735.3:p.Ala577Thr, NP_001005743.1:p.Ala588Ser, NP_001005743.1:p.Ala588Thr, NP_001307043.1:p.Ala540Ser, NP_001307043.1:p.Ala540Thr, NP_001005744.1:p.Ala540Ser, NP_001005744.1:p.Ala540Thr, NP_001005745.1:p.Ala529Ser, NP_001005745.1:p.Ala529Thr

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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 544

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