SNP Links for Protein (Select 809279653) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 458

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Select item 14889901341.

rs1488990134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:30602031 (GRCh38)
14:31071237 (GRCh37)
Canonical SPDI:: NC_000014.9:30602030:C:G
Gene:: G2E3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30602031C>G, NC_000014.8:g.31071237C>G, NM_017769.5:c.910C>G, NM_017769.4:c.910C>G, NM_017769.3:c.910C>G, XM_011536925.3:c.910C>G, XM_011536925.2:c.910C>G, XM_011536925.1:c.910C>G, XM_011536926.3:c.793C>G, XM_011536926.2:c.793C>G, XM_011536926.1:c.793C>G, NM_001308097.2:c.772C>G, NM_001308097.1:c.772C>G, XM_047431553.1:c.307C>G, XM_047431552.1:c.655C>G, XM_047431555.1:c.-339C>G, XM_047431554.1:c.910C>G, XM_047431556.1:c.793C>G, XM_047431557.1:c.655C>G, NP_060239.2:p.Pro304Ala, XP_011535227.1:p.Pro304Ala, XP_011535228.1:p.Pro265Ala, NP_001295026.1:p.Pro258Ala, XP_047287509.1:p.Pro103Ala, XP_047287508.1:p.Pro219Ala, XP_047287510.1:p.Pro304Ala, XP_047287512.1:p.Pro265Ala, XP_047287513.1:p.Pro219Ala

Select item 14876516362.

rs1487651636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:30608023 (GRCh38)
14:31077229 (GRCh37)
Canonical SPDI:: NC_000014.9:30608022:T:A
Gene:: G2E3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.30608023T>A, NC_000014.8:g.31077229T>A, NM_017769.5:c.1454T>A, NM_017769.4:c.1454T>A, NM_017769.3:c.1454T>A, XM_011536925.3:c.1454T>A, XM_011536925.2:c.1454T>A, XM_011536925.1:c.1454T>A, XM_011536926.3:c.1337T>A, XM_011536926.2:c.1337T>A, XM_011536926.1:c.1337T>A, NM_001308097.2:c.1316T>A, NM_001308097.1:c.1316T>A, XM_047431553.1:c.851T>A, XM_047431552.1:c.1199T>A, XM_047431555.1:c.206T>A, XM_047431554.1:c.*111T>A, NP_060239.2:p.Ile485Asn, XP_011535227.1:p.Ile485Asn, XP_011535228.1:p.Ile446Asn, NP_001295026.1:p.Ile439Asn, XP_047287509.1:p.Ile284Asn, XP_047287508.1:p.Ile400Asn, XP_047287511.1:p.Ile69Asn

Select item 14858928983.

rs1485892898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:30616397 (GRCh38)
14:31085603 (GRCh37)
Canonical SPDI:: NC_000014.9:30616396:G:T
Gene:: G2E3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30616397G>T, NC_000014.8:g.31085603G>T, NM_017769.5:c.1984G>T, NM_017769.4:c.1984G>T, NM_017769.3:c.1984G>T, XM_011536925.3:c.1984G>T, XM_011536925.2:c.1984G>T, XM_011536925.1:c.1984G>T, XM_011536926.3:c.1867G>T, XM_011536926.2:c.1867G>T, XM_011536926.1:c.1867G>T, NM_001308097.2:c.1846G>T, NM_001308097.1:c.1846G>T, XM_047431553.1:c.1381G>T, XM_047431552.1:c.1729G>T, XM_047431555.1:c.736G>T, NP_060239.2:p.Val662Phe, XP_011535227.1:p.Val662Phe, XP_011535228.1:p.Val623Phe, NP_001295026.1:p.Val616Phe, XP_047287509.1:p.Val461Phe, XP_047287508.1:p.Val577Phe, XP_047287511.1:p.Val246Phe

Select item 14853368674.

rs1485336867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30592325 (GRCh38)
14:31061531 (GRCh37)
Canonical SPDI:: NC_000014.9:30592324:A:G
Gene:: G2E3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000014.9:g.30592325A>G, NC_000014.8:g.31061531A>G, NM_017769.5:c.240A>G, NM_017769.4:c.240A>G, NM_017769.3:c.240A>G, XM_011536925.3:c.240A>G, XM_011536925.2:c.240A>G, XM_011536925.1:c.240A>G, XM_011536926.3:c.240A>G, XM_011536926.2:c.240A>G, XM_011536926.1:c.240A>G, NM_001308097.2:c.102A>G, NM_001308097.1:c.102A>G, XM_047431553.1:c.-364A>G, XM_047431552.1:c.102A>G, XM_047431554.1:c.240A>G, XM_047431556.1:c.240A>G, XM_047431557.1:c.102A>G

Select item 14847329785.

rs1484732978 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 14:30612309 (GRCh38)
14:31081516 (GRCh37)
Canonical SPDI:: NC_000014.9:30612309:ATA:ATATA
Gene:: G2E3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.30612311_30612312dup, NC_000014.8:g.31081517_31081518dup, NM_017769.5:c.1605_1606dup, NM_017769.4:c.1605_1606dup, NM_017769.3:c.1605_1606dup, XM_011536925.3:c.1605_1606dup, XM_011536925.2:c.1605_1606dup, XM_011536925.1:c.1605_1606dup, XM_011536926.3:c.1488_1489dup, XM_011536926.2:c.1488_1489dup, XM_011536926.1:c.1488_1489dup, NM_001308097.2:c.1467_1468dup, NM_001308097.1:c.1467_1468dup, XM_047431553.1:c.1002_1003dup, XM_047431552.1:c.1350_1351dup, XM_047431555.1:c.357_358dup, NP_060239.2:p.Lys536fs, XP_011535227.1:p.Lys536fs, XP_011535228.1:p.Lys497fs, NP_001295026.1:p.Lys490fs, XP_047287509.1:p.Lys335fs, XP_047287508.1:p.Lys451fs, XP_047287511.1:p.Lys120fs

Select item 14820107726.

rs1482010772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30592429 (GRCh38)
14:31061635 (GRCh37)
Canonical SPDI:: NC_000014.9:30592428:A:G
Gene:: G2E3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30592429A>G, NC_000014.8:g.31061635A>G, NM_017769.5:c.344A>G, NM_017769.4:c.344A>G, NM_017769.3:c.344A>G, XM_011536925.3:c.344A>G, XM_011536925.2:c.344A>G, XM_011536925.1:c.344A>G, XM_011536926.3:c.344A>G, XM_011536926.2:c.344A>G, XM_011536926.1:c.344A>G, NM_001308097.2:c.206A>G, NM_001308097.1:c.206A>G, XM_047431553.1:c.-260A>G, XM_047431552.1:c.206A>G, XM_047431554.1:c.344A>G, XM_047431556.1:c.344A>G, XM_047431557.1:c.206A>G, NP_060239.2:p.Gln115Arg, XP_011535227.1:p.Gln115Arg, XP_011535228.1:p.Gln115Arg, NP_001295026.1:p.Gln69Arg, XP_047287508.1:p.Gln69Arg, XP_047287510.1:p.Gln115Arg, XP_047287512.1:p.Gln115Arg, XP_047287513.1:p.Gln69Arg

Select item 14778354897.

rs1477835489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:30616446 (GRCh38)
14:31085652 (GRCh37)
Canonical SPDI:: NC_000014.9:30616445:A:T
Gene:: G2E3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.30616446A>T, NC_000014.8:g.31085652A>T, NM_017769.5:c.2033A>T, NM_017769.4:c.2033A>T, NM_017769.3:c.2033A>T, XM_011536925.3:c.2033A>T, XM_011536925.2:c.2033A>T, XM_011536925.1:c.2033A>T, XM_011536926.3:c.1916A>T, XM_011536926.2:c.1916A>T, XM_011536926.1:c.1916A>T, NM_001308097.2:c.1895A>T, NM_001308097.1:c.1895A>T, XM_047431553.1:c.1430A>T, XM_047431552.1:c.1778A>T, XM_047431555.1:c.785A>T, NP_060239.2:p.Tyr678Phe, XP_011535227.1:p.Tyr678Phe, XP_011535228.1:p.Tyr639Phe, NP_001295026.1:p.Tyr632Phe, XP_047287509.1:p.Tyr477Phe, XP_047287508.1:p.Tyr593Phe, XP_047287511.1:p.Tyr262Phe

Select item 14763583048.

rs1476358304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30612355 (GRCh38)
14:31081561 (GRCh37)
Canonical SPDI:: NC_000014.9:30612354:A:G
Gene:: G2E3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000014.9:g.30612355A>G, NC_000014.8:g.31081561A>G, NM_017769.5:c.1649A>G, NM_017769.4:c.1649A>G, NM_017769.3:c.1649A>G, XM_011536925.3:c.1649A>G, XM_011536925.2:c.1649A>G, XM_011536925.1:c.1649A>G, XM_011536926.3:c.1532A>G, XM_011536926.2:c.1532A>G, XM_011536926.1:c.1532A>G, NM_001308097.2:c.1511A>G, NM_001308097.1:c.1511A>G, XM_047431553.1:c.1046A>G, XM_047431552.1:c.1394A>G, XM_047431555.1:c.401A>G, NP_060239.2:p.Gln550Arg, XP_011535227.1:p.Gln550Arg, XP_011535228.1:p.Gln511Arg, NP_001295026.1:p.Gln504Arg, XP_047287509.1:p.Gln349Arg, XP_047287508.1:p.Gln465Arg, XP_047287511.1:p.Gln134Arg

Select item 14754004959.

rs1475400495 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 14:30612379 (GRCh38)
14:31081585 (GRCh37)
Canonical SPDI:: NC_000014.9:30612378:GG:G
Gene:: G2E3 (Varview)
Functional Consequence:: splice_donor_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30612380del, NC_000014.8:g.31081586del

Select item 147527915610.

rs1475279156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:30616385 (GRCh38)
14:31085591 (GRCh37)
Canonical SPDI:: NC_000014.9:30616384:G:A,NC_000014.9:30616384:G:T
Gene:: G2E3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30616385G>A, NC_000014.9:g.30616385G>T, NC_000014.8:g.31085591G>A, NC_000014.8:g.31085591G>T, NM_017769.5:c.1972G>A, NM_017769.5:c.1972G>T, NM_017769.4:c.1972G>A, NM_017769.4:c.1972G>T, NM_017769.3:c.1972G>A, NM_017769.3:c.1972G>T, XM_011536925.3:c.1972G>A, XM_011536925.3:c.1972G>T, XM_011536925.2:c.1972G>A, XM_011536925.2:c.1972G>T, XM_011536925.1:c.1972G>A, XM_011536925.1:c.1972G>T, XM_011536926.3:c.1855G>A, XM_011536926.3:c.1855G>T, XM_011536926.2:c.1855G>A, XM_011536926.2:c.1855G>T, XM_011536926.1:c.1855G>A, XM_011536926.1:c.1855G>T, NM_001308097.2:c.1834G>A, NM_001308097.2:c.1834G>T, NM_001308097.1:c.1834G>A, NM_001308097.1:c.1834G>T, XM_047431553.1:c.1369G>A, XM_047431553.1:c.1369G>T, XM_047431552.1:c.1717G>A, XM_047431552.1:c.1717G>T, XM_047431555.1:c.724G>A, XM_047431555.1:c.724G>T, NP_060239.2:p.Val658Met, NP_060239.2:p.Val658Leu, XP_011535227.1:p.Val658Met, XP_011535227.1:p.Val658Leu, XP_011535228.1:p.Val619Met, XP_011535228.1:p.Val619Leu, NP_001295026.1:p.Val612Met, NP_001295026.1:p.Val612Leu, XP_047287509.1:p.Val457Met, XP_047287509.1:p.Val457Leu, XP_047287508.1:p.Val573Met, XP_047287508.1:p.Val573Leu, XP_047287511.1:p.Val242Met, XP_047287511.1:p.Val242Leu

Select item 147484347511.

rs1474843475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:30597508 (GRCh38)
14:31066714 (GRCh37)
Canonical SPDI:: NC_000014.9:30597507:G:A
Gene:: G2E3 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30597508G>A, NC_000014.8:g.31066714G>A, NM_017769.5:c.617G>A, NM_017769.4:c.617G>A, NM_017769.3:c.617G>A, XM_011536925.3:c.617G>A, XM_011536925.2:c.617G>A, XM_011536925.1:c.617G>A, XM_011536926.3:c.617G>A, XM_011536926.2:c.617G>A, XM_011536926.1:c.617G>A, NM_001308097.2:c.479G>A, NM_001308097.1:c.479G>A, XM_047431553.1:c.14G>A, XM_047431552.1:c.479G>A, XM_047431554.1:c.617G>A, XM_047431556.1:c.617G>A, XM_047431557.1:c.479G>A, NP_060239.2:p.Gly206Glu, XP_011535227.1:p.Gly206Glu, XP_011535228.1:p.Gly206Glu, NP_001295026.1:p.Gly160Glu, XP_047287509.1:p.Gly5Glu, XP_047287508.1:p.Gly160Glu, XP_047287510.1:p.Gly206Glu, XP_047287512.1:p.Gly206Glu, XP_047287513.1:p.Gly160Glu

Select item 147444391212.

rs1474443912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:30602116 (GRCh38)
14:31071322 (GRCh37)
Canonical SPDI:: NC_000014.9:30602115:G:A
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30602116G>A, NC_000014.8:g.31071322G>A, NM_017769.5:c.995G>A, NM_017769.4:c.995G>A, NM_017769.3:c.995G>A, XM_011536925.3:c.995G>A, XM_011536925.2:c.995G>A, XM_011536925.1:c.995G>A, XM_011536926.3:c.878G>A, XM_011536926.2:c.878G>A, XM_011536926.1:c.878G>A, NM_001308097.2:c.857G>A, NM_001308097.1:c.857G>A, XM_047431553.1:c.392G>A, XM_047431552.1:c.740G>A, XM_047431555.1:c.-254G>A, XM_047431554.1:c.995G>A, XM_047431556.1:c.878G>A, XM_047431557.1:c.740G>A, NP_060239.2:p.Ser332Asn, XP_011535227.1:p.Ser332Asn, XP_011535228.1:p.Ser293Asn, NP_001295026.1:p.Ser286Asn, XP_047287509.1:p.Ser131Asn, XP_047287508.1:p.Ser247Asn, XP_047287510.1:p.Ser332Asn, XP_047287512.1:p.Ser293Asn, XP_047287513.1:p.Ser247Asn

Select item 146828895613.

rs1468288956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:30605618 (GRCh38)
14:31074824 (GRCh37)
Canonical SPDI:: NC_000014.9:30605617:C:T
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30605618C>T, NC_000014.8:g.31074824C>T, NM_017769.5:c.1124C>T, NM_017769.4:c.1124C>T, NM_017769.3:c.1124C>T, XM_011536925.3:c.1124C>T, XM_011536925.2:c.1124C>T, XM_011536925.1:c.1124C>T, XM_011536926.3:c.1007C>T, XM_011536926.2:c.1007C>T, XM_011536926.1:c.1007C>T, NM_001308097.2:c.986C>T, NM_001308097.1:c.986C>T, XM_047431553.1:c.521C>T, XM_047431552.1:c.869C>T, XM_047431555.1:c.-125C>T, NP_060239.2:p.Ala375Val, XP_011535227.1:p.Ala375Val, XP_011535228.1:p.Ala336Val, NP_001295026.1:p.Ala329Val, XP_047287509.1:p.Ala174Val, XP_047287508.1:p.Ala290Val

Select item 146710050314.

rs1467100503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:30601800 (GRCh38)
14:31071006 (GRCh37)
Canonical SPDI:: NC_000014.9:30601799:T:C
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30601800T>C, NC_000014.8:g.31071006T>C, NM_017769.5:c.783T>C, NM_017769.4:c.783T>C, NM_017769.3:c.783T>C, XM_011536925.3:c.783T>C, XM_011536925.2:c.783T>C, XM_011536925.1:c.783T>C, XM_011536926.3:c.666T>C, XM_011536926.2:c.666T>C, XM_011536926.1:c.666T>C, NM_001308097.2:c.645T>C, NM_001308097.1:c.645T>C, XM_047431553.1:c.180T>C, XM_047431552.1:c.528T>C, XM_047431555.1:c.-466T>C, XM_047431554.1:c.783T>C, XM_047431556.1:c.666T>C, XM_047431557.1:c.528T>C

Select item 146668087715.

rs1466680877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:30601874 (GRCh38)
14:31071080 (GRCh37)
Canonical SPDI:: NC_000014.9:30601873:G:A
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30601874G>A, NC_000014.8:g.31071080G>A, NM_017769.5:c.857G>A, NM_017769.4:c.857G>A, NM_017769.3:c.857G>A, XM_011536925.3:c.857G>A, XM_011536925.2:c.857G>A, XM_011536925.1:c.857G>A, XM_011536926.3:c.740G>A, XM_011536926.2:c.740G>A, XM_011536926.1:c.740G>A, NM_001308097.2:c.719G>A, NM_001308097.1:c.719G>A, XM_047431553.1:c.254G>A, XM_047431552.1:c.602G>A, XM_047431555.1:c.-392G>A, XM_047431554.1:c.857G>A, XM_047431556.1:c.740G>A, XM_047431557.1:c.602G>A, NP_060239.2:p.Arg286Lys, XP_011535227.1:p.Arg286Lys, XP_011535228.1:p.Arg247Lys, NP_001295026.1:p.Arg240Lys, XP_047287509.1:p.Arg85Lys, XP_047287508.1:p.Arg201Lys, XP_047287510.1:p.Arg286Lys, XP_047287512.1:p.Arg247Lys, XP_047287513.1:p.Arg201Lys

Select item 146318290616.

rs1463182906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:30598484 (GRCh38)
14:31067690 (GRCh37)
Canonical SPDI:: NC_000014.9:30598483:G:A
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,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.30598484G>A, NC_000014.8:g.31067690G>A, NM_017769.5:c.637G>A, NM_017769.4:c.637G>A, NM_017769.3:c.637G>A, XM_011536925.3:c.637G>A, XM_011536925.2:c.637G>A, XM_011536925.1:c.637G>A, NM_001308097.2:c.499G>A, NM_001308097.1:c.499G>A, XM_047431553.1:c.34G>A, XM_047431555.1:c.-612G>A, XM_047431554.1:c.637G>A, NP_060239.2:p.Asp213Asn, XP_011535227.1:p.Asp213Asn, NP_001295026.1:p.Asp167Asn, XP_047287509.1:p.Asp12Asn, XP_047287510.1:p.Asp213Asn

Select item 146296451817.

rs1462964518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:30605756 (GRCh38)
14:31074962 (GRCh37)
Canonical SPDI:: NC_000014.9:30605755:A:G
Gene:: G2E3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.30605756A>G, NC_000014.8:g.31074962A>G, NM_017769.5:c.1262A>G, NM_017769.4:c.1262A>G, NM_017769.3:c.1262A>G, XM_011536925.3:c.1262A>G, XM_011536925.2:c.1262A>G, XM_011536925.1:c.1262A>G, XM_011536926.3:c.1145A>G, XM_011536926.2:c.1145A>G, XM_011536926.1:c.1145A>G, NM_001308097.2:c.1124A>G, NM_001308097.1:c.1124A>G, XM_047431553.1:c.659A>G, XM_047431552.1:c.1007A>G, XM_047431555.1:c.14A>G, NP_060239.2:p.Glu421Gly, XP_011535227.1:p.Glu421Gly, XP_011535228.1:p.Glu382Gly, NP_001295026.1:p.Glu375Gly, XP_047287509.1:p.Glu220Gly, XP_047287508.1:p.Glu336Gly, XP_047287511.1:p.Glu5Gly

Select item 146193483418.

rs1461934834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:30598573 (GRCh38)
14:31067779 (GRCh37)
Canonical SPDI:: NC_000014.9:30598572:A:C
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30598573A>C, NC_000014.8:g.31067779A>C, NM_017769.5:c.726A>C, NM_017769.4:c.726A>C, NM_017769.3:c.726A>C, XM_011536925.3:c.726A>C, XM_011536925.2:c.726A>C, XM_011536925.1:c.726A>C, NM_001308097.2:c.588A>C, NM_001308097.1:c.588A>C, XM_047431553.1:c.123A>C, XM_047431555.1:c.-523A>C, XM_047431554.1:c.726A>C, NP_060239.2:p.Glu242Asp, XP_011535227.1:p.Glu242Asp, NP_001295026.1:p.Glu196Asp, XP_047287509.1:p.Glu41Asp, XP_047287510.1:p.Glu242Asp

Select item 146166011419.

rs1461660114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:30612272 (GRCh38)
14:31081478 (GRCh37)
Canonical SPDI:: NC_000014.9:30612271:G:A
Gene:: G2E3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.30612272G>A, NC_000014.8:g.31081478G>A, NM_017769.5:c.1566G>A, NM_017769.4:c.1566G>A, NM_017769.3:c.1566G>A, XM_011536925.3:c.1566G>A, XM_011536925.2:c.1566G>A, XM_011536925.1:c.1566G>A, XM_011536926.3:c.1449G>A, XM_011536926.2:c.1449G>A, XM_011536926.1:c.1449G>A, NM_001308097.2:c.1428G>A, NM_001308097.1:c.1428G>A, XM_047431553.1:c.963G>A, XM_047431552.1:c.1311G>A, XM_047431555.1:c.318G>A

Select item 146132047920.

rs1461320479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:30605592 (GRCh38)
14:31074798 (GRCh37)
Canonical SPDI:: NC_000014.9:30605591:C:T
Gene:: G2E3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.30605592C>T, NC_000014.8:g.31074798C>T, NM_017769.5:c.1098C>T, NM_017769.4:c.1098C>T, NM_017769.3:c.1098C>T, XM_011536925.3:c.1098C>T, XM_011536925.2:c.1098C>T, XM_011536925.1:c.1098C>T, XM_011536926.3:c.981C>T, XM_011536926.2:c.981C>T, XM_011536926.1:c.981C>T, NM_001308097.2:c.960C>T, NM_001308097.1:c.960C>T, XM_047431553.1:c.495C>T, XM_047431552.1:c.843C>T, XM_047431555.1:c.-151C>T

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