SNP Links for Protein (Select 648216343) - SNP

Select item 14766115351.

rs1476611535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:69295814 (GRCh38)
11:69063281 (GRCh37)
Canonical SPDI:: NC_000011.10:69295813:A:G
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69295814A>G, NC_000011.9:g.69063281A>G, NM_138768.4:c.364A>G, NM_138768.3:c.364A>G, NM_138768.2:c.364A>G, NM_001293294.2:c.190A>G, NM_001293294.1:c.190A>G, NM_001293291.2:c.364A>G, NM_001293291.1:c.364A>G, NM_001293296.2:c.190A>G, NM_001293296.1:c.190A>G, NM_001300923.2:c.190A>G, NM_001300923.1:c.190A>G, NM_001300924.2:c.190A>G, NM_001300924.1:c.190A>G, XM_047426763.1:c.364A>G, NP_620123.2:p.Ser122Gly, NP_001280223.1:p.Ser64Gly, NP_001280220.1:p.Ser122Gly, NP_001280225.1:p.Ser64Gly, NP_001287852.1:p.Ser64Gly, NP_001287853.1:p.Ser64Gly, XP_047282719.1:p.Ser122Gly

Select item 14715034802.

rs1471503480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69296184 (GRCh38)
11:69063651 (GRCh37)
Canonical SPDI:: NC_000011.10:69296183:C:T
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69296184C>T, NC_000011.9:g.69063651C>T, NM_138768.4:c.734C>T, NM_138768.3:c.734C>T, NM_138768.2:c.734C>T, NM_001293294.2:c.560C>T, NM_001293294.1:c.560C>T, NM_001293291.2:c.734C>T, NM_001293291.1:c.734C>T, NM_001293296.2:c.560C>T, NM_001293296.1:c.560C>T, NM_001300923.2:c.560C>T, NM_001300923.1:c.560C>T, NM_001300924.2:c.560C>T, NM_001300924.1:c.560C>T, XM_047426763.1:c.734C>T, NP_620123.2:p.Pro245Leu, NP_001280223.1:p.Pro187Leu, NP_001280220.1:p.Pro245Leu, NP_001280225.1:p.Pro187Leu, NP_001287852.1:p.Pro187Leu, NP_001287853.1:p.Pro187Leu, XP_047282719.1:p.Pro245Leu

Select item 14698809123.

rs1469880912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:69296117 (GRCh38)
11:69063585 (GRCh37)
Canonical SPDI:: NC_000011.10:69296117:AA:AAA
Gene:: MYEOV (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69296119dup, NC_000011.9:g.69063586dup, NM_138768.4:c.669dup, NM_138768.3:c.669dup, NM_138768.2:c.669dup, NM_001293294.2:c.495dup, NM_001293294.1:c.495dup, NM_001293291.2:c.669dup, NM_001293291.1:c.669dup, NM_001293296.2:c.495dup, NM_001293296.1:c.495dup, NM_001300923.2:c.495dup, NM_001300923.1:c.495dup, NM_001300924.2:c.495dup, NM_001300924.1:c.495dup, XM_047426763.1:c.669dup, NP_620123.2:p.Ser224fs, NP_001280223.1:p.Ser166fs, NP_001280220.1:p.Ser224fs, NP_001280225.1:p.Ser166fs, NP_001287852.1:p.Ser166fs, NP_001287853.1:p.Ser166fs, XP_047282719.1:p.Ser224fs

Select item 14685642454.

rs1468564245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69296351 (GRCh38)
11:69063818 (GRCh37)
Canonical SPDI:: NC_000011.10:69296350:C:T
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.69296351C>T, NC_000011.9:g.69063818C>T, NM_138768.4:c.901C>T, NM_138768.3:c.901C>T, NM_138768.2:c.901C>T, NM_001293294.2:c.727C>T, NM_001293294.1:c.727C>T, NM_001293291.2:c.901C>T, NM_001293291.1:c.901C>T, NM_001293296.2:c.727C>T, NM_001293296.1:c.727C>T, NM_001300923.2:c.727C>T, NM_001300923.1:c.727C>T, NM_001300924.2:c.727C>T, NM_001300924.1:c.727C>T, XM_047426763.1:c.901C>T, NP_620123.2:p.His301Tyr, NP_001280223.1:p.His243Tyr, NP_001280220.1:p.His301Tyr, NP_001280225.1:p.His243Tyr, NP_001287852.1:p.His243Tyr, NP_001287853.1:p.His243Tyr, XP_047282719.1:p.His301Tyr

Select item 14685222845.

rs1468522284 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:69295802 (GRCh38)
11:69063269 (GRCh37)
Canonical SPDI:: NC_000011.10:69295801:GG:G
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69295803del, NC_000011.9:g.69063270del, NM_138768.4:c.353del, NM_138768.3:c.353del, NM_138768.2:c.353del, NM_001293294.2:c.179del, NM_001293294.1:c.179del, NM_001293291.2:c.353del, NM_001293291.1:c.353del, NM_001293296.2:c.179del, NM_001293296.1:c.179del, NM_001300923.2:c.179del, NM_001300923.1:c.179del, NM_001300924.2:c.179del, NM_001300924.1:c.179del, XM_047426763.1:c.353del, NP_620123.2:p.Gly118fs, NP_001280223.1:p.Gly60fs, NP_001280220.1:p.Gly118fs, NP_001280225.1:p.Gly60fs, NP_001287852.1:p.Gly60fs, NP_001287853.1:p.Gly60fs, XP_047282719.1:p.Gly118fs

Select item 14676431826.

rs1467643182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69295856 (GRCh38)
11:69063323 (GRCh37)
Canonical SPDI:: NC_000011.10:69295855:G:A
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69295856G>A, NC_000011.9:g.69063323G>A, NM_138768.4:c.406G>A, NM_138768.3:c.406G>A, NM_138768.2:c.406G>A, NM_001293294.2:c.232G>A, NM_001293294.1:c.232G>A, NM_001293291.2:c.406G>A, NM_001293291.1:c.406G>A, NM_001293296.2:c.232G>A, NM_001293296.1:c.232G>A, NM_001300923.2:c.232G>A, NM_001300923.1:c.232G>A, NM_001300924.2:c.232G>A, NM_001300924.1:c.232G>A, XM_047426763.1:c.406G>A, NP_620123.2:p.Val136Ile, NP_001280223.1:p.Val78Ile, NP_001280220.1:p.Val136Ile, NP_001280225.1:p.Val78Ile, NP_001287852.1:p.Val78Ile, NP_001287853.1:p.Val78Ile, XP_047282719.1:p.Val136Ile

Select item 14670237957.

rs1467023795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:69295895 (GRCh38)
11:69063362 (GRCh37)
Canonical SPDI:: NC_000011.10:69295894:A:T
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.69295895A>T, NC_000011.9:g.69063362A>T, NM_138768.4:c.445A>T, NM_138768.3:c.445A>T, NM_138768.2:c.445A>T, NM_001293294.2:c.271A>T, NM_001293294.1:c.271A>T, NM_001293291.2:c.445A>T, NM_001293291.1:c.445A>T, NM_001293296.2:c.271A>T, NM_001293296.1:c.271A>T, NM_001300923.2:c.271A>T, NM_001300923.1:c.271A>T, NM_001300924.2:c.271A>T, NM_001300924.1:c.271A>T, XM_047426763.1:c.445A>T, NP_620123.2:p.Asn149Tyr, NP_001280223.1:p.Asn91Tyr, NP_001280220.1:p.Asn149Tyr, NP_001280225.1:p.Asn91Tyr, NP_001287852.1:p.Asn91Tyr, NP_001287853.1:p.Asn91Tyr, XP_047282719.1:p.Asn149Tyr

Select item 14619991678.

rs1461999167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:69295832 (GRCh38)
11:69063299 (GRCh37)
Canonical SPDI:: NC_000011.10:69295831:G:A,NC_000011.10:69295831:G:T
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.69295832G>A, NC_000011.10:g.69295832G>T, NC_000011.9:g.69063299G>A, NC_000011.9:g.69063299G>T, NM_138768.4:c.382G>A, NM_138768.4:c.382G>T, NM_138768.3:c.382G>A, NM_138768.3:c.382G>T, NM_138768.2:c.382G>A, NM_138768.2:c.382G>T, NM_001293294.2:c.208G>A, NM_001293294.2:c.208G>T, NM_001293294.1:c.208G>A, NM_001293294.1:c.208G>T, NM_001293291.2:c.382G>A, NM_001293291.2:c.382G>T, NM_001293291.1:c.382G>A, NM_001293291.1:c.382G>T, NM_001293296.2:c.208G>A, NM_001293296.2:c.208G>T, NM_001293296.1:c.208G>A, NM_001293296.1:c.208G>T, NM_001300923.2:c.208G>A, NM_001300923.2:c.208G>T, NM_001300923.1:c.208G>A, NM_001300923.1:c.208G>T, NM_001300924.2:c.208G>A, NM_001300924.2:c.208G>T, NM_001300924.1:c.208G>A, NM_001300924.1:c.208G>T, XM_047426763.1:c.382G>A, XM_047426763.1:c.382G>T, NP_620123.2:p.Val128Met, NP_620123.2:p.Val128Leu, NP_001280223.1:p.Val70Met, NP_001280223.1:p.Val70Leu, NP_001280220.1:p.Val128Met, NP_001280220.1:p.Val128Leu, NP_001280225.1:p.Val70Met, NP_001280225.1:p.Val70Leu, NP_001287852.1:p.Val70Met, NP_001287852.1:p.Val70Leu, NP_001287853.1:p.Val70Met, NP_001287853.1:p.Val70Leu, XP_047282719.1:p.Val128Met, XP_047282719.1:p.Val128Leu

Select item 14600149309.

rs1460014930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69295837 (GRCh38)
11:69063304 (GRCh37)
Canonical SPDI:: NC_000011.10:69295836:C:T
Gene:: MYEOV (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000011.10:g.69295837C>T, NC_000011.9:g.69063304C>T, NM_138768.4:c.387C>T, NM_138768.3:c.387C>T, NM_138768.2:c.387C>T, NM_001293294.2:c.213C>T, NM_001293294.1:c.213C>T, NM_001293291.2:c.387C>T, NM_001293291.1:c.387C>T, NM_001293296.2:c.213C>T, NM_001293296.1:c.213C>T, NM_001300923.2:c.213C>T, NM_001300923.1:c.213C>T, NM_001300924.2:c.213C>T, NM_001300924.1:c.213C>T, XM_047426763.1:c.387C>T

Select item 144298484510.

rs1442984845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:69296047 (GRCh38)
11:69063514 (GRCh37)
Canonical SPDI:: NC_000011.10:69296046:G:T
Gene:: MYEOV (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.69296047G>T, NC_000011.9:g.69063514G>T, NM_138768.4:c.597G>T, NM_138768.3:c.597G>T, NM_138768.2:c.597G>T, NM_001293294.2:c.423G>T, NM_001293294.1:c.423G>T, NM_001293291.2:c.597G>T, NM_001293291.1:c.597G>T, NM_001293296.2:c.423G>T, NM_001293296.1:c.423G>T, NM_001300923.2:c.423G>T, NM_001300923.1:c.423G>T, NM_001300924.2:c.423G>T, NM_001300924.1:c.423G>T, XM_047426763.1:c.597G>T, NP_620123.2:p.Met199Ile, NP_001280223.1:p.Met141Ile, NP_001280220.1:p.Met199Ile, NP_001280225.1:p.Met141Ile, NP_001287852.1:p.Met141Ile, NP_001287853.1:p.Met141Ile, XP_047282719.1:p.Met199Ile

Select item 143975194811.

rs1439751948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:69296291 (GRCh38)
11:69063758 (GRCh37)
Canonical SPDI:: NC_000011.10:69296290:C:G
Gene:: MYEOV (Varview)
Functional Consequence:: 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_000011.10:g.69296291C>G, NC_000011.9:g.69063758C>G, NM_138768.4:c.841C>G, NM_138768.3:c.841C>G, NM_138768.2:c.841C>G, NM_001293294.2:c.667C>G, NM_001293294.1:c.667C>G, NM_001293291.2:c.841C>G, NM_001293291.1:c.841C>G, NM_001293296.2:c.667C>G, NM_001293296.1:c.667C>G, NM_001300923.2:c.667C>G, NM_001300923.1:c.667C>G, NM_001300924.2:c.667C>G, NM_001300924.1:c.667C>G, XM_047426763.1:c.841C>G, NP_620123.2:p.Gln281Glu, NP_001280223.1:p.Gln223Glu, NP_001280220.1:p.Gln281Glu, NP_001280225.1:p.Gln223Glu, NP_001287852.1:p.Gln223Glu, NP_001287853.1:p.Gln223Glu, XP_047282719.1:p.Gln281Glu

Select item 143901401112.

rs1439014011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69296296 (GRCh38)
11:69063763 (GRCh37)
Canonical SPDI:: NC_000011.10:69296295:G:A
Gene:: MYEOV (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.69296296G>A, NC_000011.9:g.69063763G>A, NM_138768.4:c.846G>A, NM_138768.3:c.846G>A, NM_138768.2:c.846G>A, NM_001293294.2:c.672G>A, NM_001293294.1:c.672G>A, NM_001293291.2:c.846G>A, NM_001293291.1:c.846G>A, NM_001293296.2:c.672G>A, NM_001293296.1:c.672G>A, NM_001300923.2:c.672G>A, NM_001300923.1:c.672G>A, NM_001300924.2:c.672G>A, NM_001300924.1:c.672G>A, XM_047426763.1:c.846G>A

Select item 143632005713.

rs1436320057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69296018 (GRCh38)
11:69063485 (GRCh37)
Canonical SPDI:: NC_000011.10:69296017:C:T
Gene:: MYEOV (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=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.69296018C>T, NC_000011.9:g.69063485C>T, NM_138768.4:c.568C>T, NM_138768.3:c.568C>T, NM_138768.2:c.568C>T, NM_001293294.2:c.394C>T, NM_001293294.1:c.394C>T, NM_001293291.2:c.568C>T, NM_001293291.1:c.568C>T, NM_001293296.2:c.394C>T, NM_001293296.1:c.394C>T, NM_001300923.2:c.394C>T, NM_001300923.1:c.394C>T, NM_001300924.2:c.394C>T, NM_001300924.1:c.394C>T, XM_047426763.1:c.568C>T, NP_620123.2:p.Leu190Phe, NP_001280223.1:p.Leu132Phe, NP_001280220.1:p.Leu190Phe, NP_001280225.1:p.Leu132Phe, NP_001287852.1:p.Leu132Phe, NP_001287853.1:p.Leu132Phe, XP_047282719.1:p.Leu190Phe

Select item 143583338314.

rs1435833383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:69295906 (GRCh38)
11:69063373 (GRCh37)
Canonical SPDI:: NC_000011.10:69295905:T:C
Gene:: MYEOV (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.69295906T>C, NC_000011.9:g.69063373T>C, NM_138768.4:c.456T>C, NM_138768.3:c.456T>C, NM_138768.2:c.456T>C, NM_001293294.2:c.282T>C, NM_001293294.1:c.282T>C, NM_001293291.2:c.456T>C, NM_001293291.1:c.456T>C, NM_001293296.2:c.282T>C, NM_001293296.1:c.282T>C, NM_001300923.2:c.282T>C, NM_001300923.1:c.282T>C, NM_001300924.2:c.282T>C, NM_001300924.1:c.282T>C, XM_047426763.1:c.456T>C

Select item 143550682415.

rs1435506824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:69296282 (GRCh38)
11:69063749 (GRCh37)
Canonical SPDI:: NC_000011.10:69296281:A:G
Gene:: MYEOV (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.69296282A>G, NC_000011.9:g.69063749A>G, NM_138768.4:c.832A>G, NM_138768.3:c.832A>G, NM_138768.2:c.832A>G, NM_001293294.2:c.658A>G, NM_001293294.1:c.658A>G, NM_001293291.2:c.832A>G, NM_001293291.1:c.832A>G, NM_001293296.2:c.658A>G, NM_001293296.1:c.658A>G, NM_001300923.2:c.658A>G, NM_001300923.1:c.658A>G, NM_001300924.2:c.658A>G, NM_001300924.1:c.658A>G, XM_047426763.1:c.832A>G, NP_620123.2:p.Arg278Gly, NP_001280223.1:p.Arg220Gly, NP_001280220.1:p.Arg278Gly, NP_001280225.1:p.Arg220Gly, NP_001287852.1:p.Arg220Gly, NP_001287853.1:p.Arg220Gly, XP_047282719.1:p.Arg278Gly

Select item 143192092816.

rs1431920928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69296145 (GRCh38)
11:69063612 (GRCh37)
Canonical SPDI:: NC_000011.10:69296144:G:A
Gene:: MYEOV (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69296145G>A, NC_000011.9:g.69063612G>A, NM_138768.4:c.695G>A, NM_138768.3:c.695G>A, NM_138768.2:c.695G>A, NM_001293294.2:c.521G>A, NM_001293294.1:c.521G>A, NM_001293291.2:c.695G>A, NM_001293291.1:c.695G>A, NM_001293296.2:c.521G>A, NM_001293296.1:c.521G>A, NM_001300923.2:c.521G>A, NM_001300923.1:c.521G>A, NM_001300924.2:c.521G>A, NM_001300924.1:c.521G>A, XM_047426763.1:c.695G>A, NP_620123.2:p.Gly232Glu, NP_001280223.1:p.Gly174Glu, NP_001280220.1:p.Gly232Glu, NP_001280225.1:p.Gly174Glu, NP_001287852.1:p.Gly174Glu, NP_001287853.1:p.Gly174Glu, XP_047282719.1:p.Gly232Glu

Select item 142412195417.

rs1424121954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69296073 (GRCh38)
11:69063540 (GRCh37)
Canonical SPDI:: NC_000011.10:69296072:G:A
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.69296073G>A, NC_000011.9:g.69063540G>A, NM_138768.4:c.623G>A, NM_138768.3:c.623G>A, NM_138768.2:c.623G>A, NM_001293294.2:c.449G>A, NM_001293294.1:c.449G>A, NM_001293291.2:c.623G>A, NM_001293291.1:c.623G>A, NM_001293296.2:c.449G>A, NM_001293296.1:c.449G>A, NM_001300923.2:c.449G>A, NM_001300923.1:c.449G>A, NM_001300924.2:c.449G>A, NM_001300924.1:c.449G>A, XM_047426763.1:c.623G>A, NP_620123.2:p.Arg208Gln, NP_001280223.1:p.Arg150Gln, NP_001280220.1:p.Arg208Gln, NP_001280225.1:p.Arg150Gln, NP_001287852.1:p.Arg150Gln, NP_001287853.1:p.Arg150Gln, XP_047282719.1:p.Arg208Gln

Select item 141716833218.

rs1417168332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:69295773 (GRCh38)
11:69063240 (GRCh37)
Canonical SPDI:: NC_000011.10:69295772:G:C
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.69295773G>C, NC_000011.9:g.69063240G>C, NM_138768.4:c.323G>C, NM_138768.3:c.323G>C, NM_138768.2:c.323G>C, NM_001293294.2:c.149G>C, NM_001293294.1:c.149G>C, NM_001293291.2:c.323G>C, NM_001293291.1:c.323G>C, NM_001293296.2:c.149G>C, NM_001293296.1:c.149G>C, NM_001300923.2:c.149G>C, NM_001300923.1:c.149G>C, NM_001300924.2:c.149G>C, NM_001300924.1:c.149G>C, XM_047426763.1:c.323G>C, NP_620123.2:p.Arg108Thr, NP_001280223.1:p.Arg50Thr, NP_001280220.1:p.Arg108Thr, NP_001280225.1:p.Arg50Thr, NP_001287852.1:p.Arg50Thr, NP_001287853.1:p.Arg50Thr, XP_047282719.1:p.Arg108Thr

Select item 141572139219.

rs1415721392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69295880 (GRCh38)
11:69063347 (GRCh37)
Canonical SPDI:: NC_000011.10:69295879:C:T
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69295880C>T, NC_000011.9:g.69063347C>T, NM_138768.4:c.430C>T, NM_138768.3:c.430C>T, NM_138768.2:c.430C>T, NM_001293294.2:c.256C>T, NM_001293294.1:c.256C>T, NM_001293291.2:c.430C>T, NM_001293291.1:c.430C>T, NM_001293296.2:c.256C>T, NM_001293296.1:c.256C>T, NM_001300923.2:c.256C>T, NM_001300923.1:c.256C>T, NM_001300924.2:c.256C>T, NM_001300924.1:c.256C>T, XM_047426763.1:c.430C>T

Select item 141320051020.

rs1413200510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:69296265 (GRCh38)
11:69063732 (GRCh37)
Canonical SPDI:: NC_000011.10:69296264:G:T
Gene:: MYEOV (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69296265G>T, NC_000011.9:g.69063732G>T, NM_138768.4:c.815G>T, NM_138768.3:c.815G>T, NM_138768.2:c.815G>T, NM_001293294.2:c.641G>T, NM_001293294.1:c.641G>T, NM_001293291.2:c.815G>T, NM_001293291.1:c.815G>T, NM_001293296.2:c.641G>T, NM_001293296.1:c.641G>T, NM_001300923.2:c.641G>T, NM_001300923.1:c.641G>T, NM_001300924.2:c.641G>T, NM_001300924.1:c.641G>T, XM_047426763.1:c.815G>T, NP_620123.2:p.Trp272Leu, NP_001280223.1:p.Trp214Leu, NP_001280220.1:p.Trp272Leu, NP_001280225.1:p.Trp214Leu, NP_001287852.1:p.Trp214Leu, NP_001287853.1:p.Trp214Leu, XP_047282719.1:p.Trp272Leu

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Result Filters

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Items: 1 to 20 of 323

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