SNP Links for Protein (Select 22749033) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37799650 (GRCh38)
1:38265322 (GRCh37)
Canonical SPDI:: NC_000001.11:37799649:T:C
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.37799650T>C, NC_000001.10:g.38265322T>C, NM_152496.3:c.155T>C, NM_152496.2:c.155T>C, NM_001113482.2:c.821T>C, NM_001113482.1:c.821T>C, NP_689709.1:p.Leu52Pro, NP_001106954.1:p.Leu274Pro

Select item 144968030611.

rs1449680306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:37799984 (GRCh38)
1:38265656 (GRCh37)
Canonical SPDI:: NC_000001.11:37799983:G:A,NC_000001.11:37799983:G:C
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37799984G>A, NC_000001.11:g.37799984G>C, NC_000001.10:g.38265656G>A, NC_000001.10:g.38265656G>C, XM_005270510.4:c.801G>A, XM_005270510.4:c.801G>C, XM_005270510.3:c.801G>A, XM_005270510.3:c.801G>C, XM_005270510.2:c.801G>A, XM_005270510.2:c.801G>C, XM_005270510.1:c.801G>A, XM_005270510.1:c.801G>C, NM_001031740.3:c.*125G>A, NM_001031740.3:c.*125G>C, NM_001031740.2:c.*125G>A, NM_001031740.2:c.*125G>C, NM_152496.3:c.489G>A, NM_152496.3:c.489G>C, NM_152496.2:c.489G>A, NM_152496.2:c.489G>C, NM_001113482.2:c.1155G>A, NM_001113482.2:c.1155G>C, NM_001113482.1:c.1155G>A, NM_001113482.1:c.1155G>C, XP_005270567.1:p.Glu267Asp, NP_689709.1:p.Glu163Asp, NP_001106954.1:p.Glu385Asp

Select item 144899656012.

rs1448996560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37800151 (GRCh38)
1:38265823 (GRCh37)
Canonical SPDI:: NC_000001.11:37800150:C:T
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37800151C>T, NC_000001.10:g.38265823C>T, XM_005270510.4:c.968C>T, XM_005270510.3:c.968C>T, XM_005270510.2:c.968C>T, XM_005270510.1:c.968C>T, NM_001031740.3:c.*292C>T, NM_001031740.2:c.*292C>T, NM_152496.3:c.656C>T, NM_152496.2:c.656C>T, NM_001113482.2:c.1322C>T, NM_001113482.1:c.1322C>T, XP_005270567.1:p.Thr323Ile, NP_689709.1:p.Thr219Ile, NP_001106954.1:p.Thr441Ile

Select item 144460162313.

rs1444601623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37800005 (GRCh38)
1:38265677 (GRCh37)
Canonical SPDI:: NC_000001.11:37800004:G:A
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_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_000001.11:g.37800005G>A, NC_000001.10:g.38265677G>A, XM_005270510.4:c.822G>A, XM_005270510.3:c.822G>A, XM_005270510.2:c.822G>A, XM_005270510.1:c.822G>A, NM_001031740.3:c.*146G>A, NM_001031740.2:c.*146G>A, NM_152496.3:c.510G>A, NM_152496.2:c.510G>A, NM_001113482.2:c.1176G>A, NM_001113482.1:c.1176G>A

Select item 144254495414.

rs1442544954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37800154 (GRCh38)
1:38265826 (GRCh37)
Canonical SPDI:: NC_000001.11:37800153:G:A
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_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_000001.11:g.37800154G>A, NC_000001.10:g.38265826G>A, XM_005270510.4:c.971G>A, XM_005270510.3:c.971G>A, XM_005270510.2:c.971G>A, XM_005270510.1:c.971G>A, NM_001031740.3:c.*295G>A, NM_001031740.2:c.*295G>A, NM_152496.3:c.659G>A, NM_152496.2:c.659G>A, NM_001113482.2:c.1325G>A, NM_001113482.1:c.1325G>A, XP_005270567.1:p.Arg324His, NP_689709.1:p.Arg220His, NP_001106954.1:p.Arg442His

Select item 143854114515.

rs1438541145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:37795783 (GRCh38)
1:38261455 (GRCh37)
Canonical SPDI:: NC_000001.11:37795782:C:A
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37795783C>A, NC_000001.10:g.38261455C>A, XM_005270510.4:c.597C>A, XM_005270510.3:c.597C>A, XM_005270510.2:c.597C>A, XM_005270510.1:c.597C>A, NM_001031740.3:c.597C>A, NM_001031740.2:c.597C>A, NM_152496.3:c.8C>A, NM_152496.2:c.8C>A, NM_001113482.2:c.597C>A, NM_001113482.1:c.597C>A, XP_005270567.1:p.Asn199Lys, NP_001026910.1:p.Asn199Lys, NP_689709.1:p.Thr3Lys, NP_001106954.1:p.Asn199Lys

Select item 143636662016.

rs1436366620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37799619 (GRCh38)
1:38265291 (GRCh37)
Canonical SPDI:: NC_000001.11:37799618:C:T
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37799619C>T, NC_000001.10:g.38265291C>T, NM_152496.3:c.124C>T, NM_152496.2:c.124C>T, NM_001113482.2:c.790C>T, NM_001113482.1:c.790C>T, NP_689709.1:p.Leu42Phe, NP_001106954.1:p.Leu264Phe

Select item 143210992817.

rs1432109928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:37799978 (GRCh38)
1:38265650 (GRCh37)
Canonical SPDI:: NC_000001.11:37799977:C:A
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37799978C>A, NC_000001.10:g.38265650C>A, XM_005270510.4:c.795C>A, XM_005270510.3:c.795C>A, XM_005270510.2:c.795C>A, XM_005270510.1:c.795C>A, NM_001031740.3:c.*119C>A, NM_001031740.2:c.*119C>A, NM_152496.3:c.483C>A, NM_152496.2:c.483C>A, NM_001113482.2:c.1149C>A, NM_001113482.1:c.1149C>A, XP_005270567.1:p.Tyr265Ter, NP_689709.1:p.Tyr161Ter, NP_001106954.1:p.Tyr383Ter

Select item 141015444918.

rs1410154449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:37799865 (GRCh38)
1:38265537 (GRCh37)
Canonical SPDI:: NC_000001.11:37799864:T:G
Gene:: MANEAL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.37799865T>G, NC_000001.10:g.38265537T>G, XM_005270510.4:c.682T>G, XM_005270510.3:c.682T>G, XM_005270510.2:c.682T>G, XM_005270510.1:c.682T>G, NM_001031740.3:c.*6T>G, NM_001031740.2:c.*6T>G, NM_152496.3:c.370T>G, NM_152496.2:c.370T>G, NM_001113482.2:c.1036T>G, NM_001113482.1:c.1036T>G, XP_005270567.1:p.Phe228Val, NP_689709.1:p.Phe124Val, NP_001106954.1:p.Phe346Val

Select item 141004392319.

rs1410043923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:37795827 (GRCh38)
1:38261499 (GRCh37)
Canonical SPDI:: NC_000001.11:37795826:C:G
Gene:: MANEAL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37795827C>G, NC_000001.10:g.38261499C>G, XM_005270510.4:c.641C>G, XM_005270510.3:c.641C>G, XM_005270510.2:c.641C>G, XM_005270510.1:c.641C>G, NM_001031740.3:c.641C>G, NM_001031740.2:c.641C>G, NM_152496.3:c.52C>G, NM_152496.2:c.52C>G, NM_001113482.2:c.641C>G, NM_001113482.1:c.641C>G, XP_005270567.1:p.Ala214Gly, NP_001026910.1:p.Ala214Gly, NP_689709.1:p.Pro18Ala, NP_001106954.1:p.Ala214Gly

Select item 140509889520.

rs1405098895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:37799679 (GRCh38)
1:38265351 (GRCh37)
Canonical SPDI:: NC_000001.11:37799678:C:G,NC_000001.11:37799678:C:T
Gene:: MANEAL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37799679C>G, NC_000001.11:g.37799679C>T, NC_000001.10:g.38265351C>G, NC_000001.10:g.38265351C>T, NM_152496.3:c.184C>G, NM_152496.3:c.184C>T, NM_152496.2:c.184C>G, NM_152496.2:c.184C>T, NM_001113482.2:c.850C>G, NM_001113482.2:c.850C>T, NM_001113482.1:c.850C>G, NM_001113482.1:c.850C>T, NP_689709.1:p.Leu62Val, NP_001106954.1:p.Leu284Val

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