SNP Links for Protein (Select 530403899) - SNP

Links from Protein

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Select item 14888871401.

rs1488887140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24141282 (GRCh38)
14:24610491 (GRCh37)
Canonical SPDI:: NC_000014.9:24141281:G:A
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24141282G>A, NW_018654722.1:g.442260G>A, NC_000014.8:g.24610491G>A, XM_005267721.6:c.23C>T, XM_005267721.5:c.23C>T, XM_005267721.4:c.23C>T, XM_005267721.3:c.23C>T, XM_005267721.2:c.23C>T, XM_005267721.1:c.23C>T, NM_016049.4:c.23C>T, NM_016049.3:c.23C>T, NM_001346874.2:c.-402C>T, NM_001346874.1:c.-402C>T, NM_001346875.2:c.-375C>T, NM_001346875.1:c.-375C>T, XM_047431427.1:c.23C>T, XP_005267778.1:p.Ala8Val, NP_057133.2:p.Ala8Val, XP_047287383.1:p.Ala8Val

Select item 14769384712.

rs1476938471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:24139012 (GRCh38)
14:24608221 (GRCh37)
Canonical SPDI:: NC_000014.9:24139011:A:G
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: downstream_transcript_variant,terminator_codon_variant,stop_lost,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24139012A>G, NW_018654722.1:g.439990A>G, NC_000014.8:g.24608221A>G, XM_005267721.6:c.625T>C, XM_005267721.5:c.625T>C, XM_005267721.4:c.625T>C, XM_005267721.3:c.625T>C, XM_005267721.2:c.625T>C, XM_005267721.1:c.625T>C, NM_016049.4:c.625T>C, NM_016049.3:c.625T>C, NM_001346874.2:c.403T>C, NM_001346874.1:c.403T>C, NM_001346875.2:c.403T>C, NM_001346875.1:c.403T>C, NM_001346877.2:c.403T>C, NM_001346877.1:c.403T>C, NM_001346876.2:c.403T>C, NM_001346876.1:c.403T>C, XM_047431426.1:c.403T>C, XP_005267778.1:p.Ter209Arg, NP_057133.2:p.Ter209Arg, NP_001333803.1:p.Ter135Arg, NP_001333804.1:p.Ter135Arg, NP_001333806.1:p.Ter135Arg, NP_001333805.1:p.Ter135Arg, XP_047287382.1:p.Ter135Arg

Select item 14730736453.

rs1473073645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24139394 (GRCh38)
14:24608603 (GRCh37)
Canonical SPDI:: NC_000014.9:24139393:G:C
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.24139394G>C, NW_018654722.1:g.440372G>C, NC_000014.8:g.24608603G>C, XM_005267721.6:c.406C>G, XM_005267721.5:c.406C>G, XM_005267721.4:c.406C>G, XM_005267721.3:c.406C>G, XM_005267721.2:c.406C>G, XM_005267721.1:c.406C>G, NM_016049.4:c.406C>G, NM_016049.3:c.406C>G, NM_001346874.2:c.184C>G, NM_001346874.1:c.184C>G, NM_001346875.2:c.184C>G, NM_001346875.1:c.184C>G, NM_001346877.2:c.184C>G, NM_001346877.1:c.184C>G, NM_001346876.2:c.184C>G, NM_001346876.1:c.184C>G, XM_047431426.1:c.184C>G, XP_005267778.1:p.Gln136Glu, NP_057133.2:p.Gln136Glu, NP_001333803.1:p.Gln62Glu, NP_001333804.1:p.Gln62Glu, NP_001333806.1:p.Gln62Glu, NP_001333805.1:p.Gln62Glu, XP_047287382.1:p.Gln62Glu

Select item 14706522934.

rs1470652293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24140943 (GRCh38)
14:24610152 (GRCh37)
Canonical SPDI:: NC_000014.9:24140942:G:C
Gene:: EMC9 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.24140943G>C, NW_018654722.1:g.441921G>C, NC_000014.8:g.24610152G>C, XM_005267721.6:c.221C>G, XM_005267721.5:c.221C>G, XM_005267721.4:c.221C>G, XM_005267721.3:c.221C>G, XM_005267721.2:c.221C>G, XM_005267721.1:c.221C>G, NM_016049.4:c.221C>G, NM_016049.3:c.221C>G, NM_001346874.2:c.-204C>G, NM_001346874.1:c.-204C>G, NM_001346875.2:c.-177C>G, NM_001346875.1:c.-177C>G, NM_001346877.2:c.-204C>G, NM_001346877.1:c.-204C>G, NM_001346876.2:c.-177C>G, NM_001346876.1:c.-177C>G, XM_047431426.1:c.-1276C>G, XM_047431427.1:c.221C>G, XP_005267778.1:p.Ala74Gly, NP_057133.2:p.Ala74Gly, XP_047287383.1:p.Ala74Gly

Select item 14689356115.

rs1468935611 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:24139051 (GRCh38)
14:24608260 (GRCh37)
Canonical SPDI:: NC_000014.9:24139050:T:
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24139051del, NW_018654722.1:g.440029del, NC_000014.8:g.24608260del, XM_005267721.6:c.586del, XM_005267721.5:c.586del, XM_005267721.4:c.586del, XM_005267721.3:c.586del, XM_005267721.2:c.586del, XM_005267721.1:c.586del, NM_016049.4:c.586del, NM_016049.3:c.586del, NM_001346874.2:c.364del, NM_001346874.1:c.364del, NM_001346875.2:c.364del, NM_001346875.1:c.364del, NM_001346877.2:c.364del, NM_001346877.1:c.364del, NM_001346876.2:c.364del, NM_001346876.1:c.364del, XM_047431426.1:c.364del, XP_005267778.1:p.Thr196fs, NP_057133.2:p.Thr196fs, NP_001333803.1:p.Thr122fs, NP_001333804.1:p.Thr122fs, NP_001333806.1:p.Thr122fs, NP_001333805.1:p.Thr122fs, XP_047287382.1:p.Thr122fs

Select item 14662304556.

rs1466230455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:24139365 (GRCh38)
14:24608574 (GRCh37)
Canonical SPDI:: NC_000014.9:24139364:C:G
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24139365C>G, NW_018654722.1:g.440343C>G, NC_000014.8:g.24608574C>G, XM_005267721.6:c.435G>C, XM_005267721.5:c.435G>C, XM_005267721.4:c.435G>C, XM_005267721.3:c.435G>C, XM_005267721.2:c.435G>C, XM_005267721.1:c.435G>C, NM_016049.4:c.435G>C, NM_016049.3:c.435G>C, NM_001346874.2:c.213G>C, NM_001346874.1:c.213G>C, NM_001346875.2:c.213G>C, NM_001346875.1:c.213G>C, NM_001346877.2:c.213G>C, NM_001346877.1:c.213G>C, NM_001346876.2:c.213G>C, NM_001346876.1:c.213G>C, XM_047431426.1:c.213G>C, XP_005267778.1:p.Lys145Asn, NP_057133.2:p.Lys145Asn, NP_001333803.1:p.Lys71Asn, NP_001333804.1:p.Lys71Asn, NP_001333806.1:p.Lys71Asn, NP_001333805.1:p.Lys71Asn, XP_047287382.1:p.Lys71Asn

Select item 14536306747.

rs1453630674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24141235 (GRCh38)
14:24610444 (GRCh37)
Canonical SPDI:: NC_000014.9:24141234:C:T
Gene:: EMC9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.24141235C>T, NW_018654722.1:g.442213C>T, NC_000014.8:g.24610444C>T, XM_005267721.6:c.70G>A, XM_005267721.5:c.70G>A, XM_005267721.4:c.70G>A, XM_005267721.3:c.70G>A, XM_005267721.2:c.70G>A, XM_005267721.1:c.70G>A, NM_016049.4:c.70G>A, NM_016049.3:c.70G>A, NM_001346874.2:c.-355G>A, NM_001346874.1:c.-355G>A, NM_001346875.2:c.-328G>A, NM_001346875.1:c.-328G>A, XM_047431427.1:c.70G>A, XP_005267778.1:p.Ala24Thr, NP_057133.2:p.Ala24Thr, XP_047287383.1:p.Ala24Thr

Select item 14527006398.

rs1452700639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:24139162 (GRCh38)
14:24608371 (GRCh37)
Canonical SPDI:: NC_000014.9:24139161:T:A,NC_000014.9:24139161:T:C
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.24139162T>A, NC_000014.9:g.24139162T>C, NW_018654722.1:g.440140T>A, NW_018654722.1:g.440140T>C, NC_000014.8:g.24608371T>A, NC_000014.8:g.24608371T>C, XM_005267721.6:c.475A>T, XM_005267721.6:c.475A>G, XM_005267721.5:c.475A>T, XM_005267721.5:c.475A>G, XM_005267721.4:c.475A>T, XM_005267721.4:c.475A>G, XM_005267721.3:c.475A>T, XM_005267721.3:c.475A>G, XM_005267721.2:c.475A>T, XM_005267721.2:c.475A>G, XM_005267721.1:c.475A>T, XM_005267721.1:c.475A>G, NM_016049.4:c.475A>T, NM_016049.4:c.475A>G, NM_016049.3:c.475A>T, NM_016049.3:c.475A>G, NM_001346877.2:c.253A>T, NM_001346877.2:c.253A>G, NM_001346877.1:c.253A>T, NM_001346877.1:c.253A>G, NM_001346874.2:c.253A>T, NM_001346874.2:c.253A>G, NM_001346874.1:c.253A>T, NM_001346874.1:c.253A>G, NM_001346875.2:c.253A>T, NM_001346875.2:c.253A>G, NM_001346875.1:c.253A>T, NM_001346875.1:c.253A>G, NM_001346876.2:c.253A>T, NM_001346876.2:c.253A>G, NM_001346876.1:c.253A>T, NM_001346876.1:c.253A>G, XM_047431426.1:c.253A>T, XM_047431426.1:c.253A>G, XP_005267778.1:p.Met159Leu, XP_005267778.1:p.Met159Val, NP_057133.2:p.Met159Leu, NP_057133.2:p.Met159Val, NP_001333806.1:p.Met85Leu, NP_001333806.1:p.Met85Val, NP_001333803.1:p.Met85Leu, NP_001333803.1:p.Met85Val, NP_001333804.1:p.Met85Leu, NP_001333804.1:p.Met85Val, NP_001333805.1:p.Met85Leu, NP_001333805.1:p.Met85Val, XP_047287382.1:p.Met85Leu, XP_047287382.1:p.Met85Val

Select item 14477835769.

rs1447783576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24141140 (GRCh38)
14:24610349 (GRCh37)
Canonical SPDI:: NC_000014.9:24141139:G:A
Gene:: EMC9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.24141140G>A, NW_018654722.1:g.442118G>A, NC_000014.8:g.24610349G>A, XM_005267721.6:c.165C>T, XM_005267721.5:c.165C>T, XM_005267721.4:c.165C>T, XM_005267721.3:c.165C>T, XM_005267721.2:c.165C>T, XM_005267721.1:c.165C>T, NM_016049.4:c.165C>T, NM_016049.3:c.165C>T, NM_001346874.2:c.-260C>T, NM_001346874.1:c.-260C>T, NM_001346875.2:c.-233C>T, NM_001346875.1:c.-233C>T, XM_047431427.1:c.165C>T

Select item 144437174010.

rs1444371740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24141185 (GRCh38)
14:24610394 (GRCh37)
Canonical SPDI:: NC_000014.9:24141184:G:A
Gene:: EMC9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_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_000014.9:g.24141185G>A, NW_018654722.1:g.442163G>A, NC_000014.8:g.24610394G>A, XM_005267721.6:c.120C>T, XM_005267721.5:c.120C>T, XM_005267721.4:c.120C>T, XM_005267721.3:c.120C>T, XM_005267721.2:c.120C>T, XM_005267721.1:c.120C>T, NM_016049.4:c.120C>T, NM_016049.3:c.120C>T, NM_001346874.2:c.-305C>T, NM_001346874.1:c.-305C>T, NM_001346875.2:c.-278C>T, NM_001346875.1:c.-278C>T, XM_047431427.1:c.120C>T

Select item 143152857711.

rs1431528577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24139183 (GRCh38)
14:24608392 (GRCh37)
Canonical SPDI:: NC_000014.9:24139182:C:T
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.24139183C>T, NW_018654722.1:g.440161C>T, NC_000014.8:g.24608392C>T, XM_005267721.6:c.454G>A, XM_005267721.5:c.454G>A, XM_005267721.4:c.454G>A, XM_005267721.3:c.454G>A, XM_005267721.2:c.454G>A, XM_005267721.1:c.454G>A, NM_016049.4:c.454G>A, NM_016049.3:c.454G>A, NM_001346874.2:c.232G>A, NM_001346874.1:c.232G>A, NM_001346875.2:c.232G>A, NM_001346875.1:c.232G>A, NM_001346877.2:c.232G>A, NM_001346877.1:c.232G>A, NM_001346876.2:c.232G>A, NM_001346876.1:c.232G>A, XM_047431426.1:c.232G>A, XP_005267778.1:p.Asp152Asn, NP_057133.2:p.Asp152Asn, NP_001333803.1:p.Asp78Asn, NP_001333804.1:p.Asp78Asn, NP_001333806.1:p.Asp78Asn, NP_001333805.1:p.Asp78Asn, XP_047287382.1:p.Asp78Asn

Select item 142792539012.

rs1427925390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:24141291 (GRCh38)
14:24610500 (GRCh37)
Canonical SPDI:: NC_000014.9:24141290:T:C
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24141291T>C, NW_018654722.1:g.442269T>C, NC_000014.8:g.24610500T>C, XM_005267721.6:c.14A>G, XM_005267721.5:c.14A>G, XM_005267721.4:c.14A>G, XM_005267721.3:c.14A>G, XM_005267721.2:c.14A>G, XM_005267721.1:c.14A>G, NM_016049.4:c.14A>G, NM_016049.3:c.14A>G, NM_001346874.2:c.-411A>G, NM_001346874.1:c.-411A>G, NM_001346875.2:c.-384A>G, NM_001346875.1:c.-384A>G, XM_047431427.1:c.14A>G, XP_005267778.1:p.Glu5Gly, NP_057133.2:p.Glu5Gly, XP_047287383.1:p.Glu5Gly

Select item 142626955613.

rs1426269556 [Homo sapiens]

Variant type:: DEL
Alleles:: CAGGCAC>- [Show Flanks]
Chromosome:: 14:24141257 (GRCh38)
14:24610466 (GRCh37)
Canonical SPDI:: NC_000014.9:24141256:CAGGCAC:
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/2 (ALFA)
HGVS:: NC_000014.9:g.24141257_24141263del, NW_018654722.1:g.442235_442241del, NC_000014.8:g.24610466_24610472del, XM_005267721.6:c.42_48del, XM_005267721.5:c.42_48del, XM_005267721.4:c.42_48del, XM_005267721.3:c.42_48del, XM_005267721.2:c.42_48del, XM_005267721.1:c.42_48del, NM_016049.4:c.42_48del, NM_016049.3:c.42_48del, NM_001346874.2:c.-383_-377del, NM_001346874.1:c.-383_-377del, NM_001346875.2:c.-356_-350del, NM_001346875.1:c.-356_-350del, XM_047431427.1:c.42_48del, XP_005267778.1:p.Met14fs, NP_057133.2:p.Met14fs, XP_047287383.1:p.Met14fs

Select item 141628801114.

rs1416288011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24141122 (GRCh38)
14:24610331 (GRCh37)
Canonical SPDI:: NC_000014.9:24141121:C:T
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/2 (TOMMO)
HGVS:: NC_000014.9:g.24141122C>T, NW_018654722.1:g.442100C>T, NC_000014.8:g.24610331C>T, XM_005267721.6:c.183G>A, XM_005267721.5:c.183G>A, XM_005267721.4:c.183G>A, XM_005267721.3:c.183G>A, XM_005267721.2:c.183G>A, XM_005267721.1:c.183G>A, NM_016049.4:c.183G>A, NM_016049.3:c.183G>A, NM_001346874.2:c.-242G>A, NM_001346874.1:c.-242G>A, NM_001346875.2:c.-215G>A, NM_001346875.1:c.-215G>A, XM_047431427.1:c.183G>A

Select item 140631939615.

rs1406319396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:24141222 (GRCh38)
14:24610431 (GRCh37)
Canonical SPDI:: NC_000014.9:24141221:C:A
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24141222C>A, NW_018654722.1:g.442200C>A, NC_000014.8:g.24610431C>A, XM_005267721.6:c.83G>T, XM_005267721.5:c.83G>T, XM_005267721.4:c.83G>T, XM_005267721.3:c.83G>T, XM_005267721.2:c.83G>T, XM_005267721.1:c.83G>T, NM_016049.4:c.83G>T, NM_016049.3:c.83G>T, NM_001346874.2:c.-342G>T, NM_001346874.1:c.-342G>T, NM_001346875.2:c.-315G>T, NM_001346875.1:c.-315G>T, XM_047431427.1:c.83G>T, XP_005267778.1:p.Gly28Val, NP_057133.2:p.Gly28Val, XP_047287383.1:p.Gly28Val

Select item 140465170316.

rs1404651703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:24140940 (GRCh38)
14:24610149 (GRCh37)
Canonical SPDI:: NC_000014.9:24140939:C:A,NC_000014.9:24140939:C:G
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.24140940C>A, NC_000014.9:g.24140940C>G, NW_018654722.1:g.441918C>A, NW_018654722.1:g.441918C>G, NC_000014.8:g.24610149C>A, NC_000014.8:g.24610149C>G, XM_005267721.6:c.224G>T, XM_005267721.6:c.224G>C, XM_005267721.5:c.224G>T, XM_005267721.5:c.224G>C, XM_005267721.4:c.224G>T, XM_005267721.4:c.224G>C, XM_005267721.3:c.224G>T, XM_005267721.3:c.224G>C, XM_005267721.2:c.224G>T, XM_005267721.2:c.224G>C, XM_005267721.1:c.224G>T, XM_005267721.1:c.224G>C, NM_016049.4:c.224G>T, NM_016049.4:c.224G>C, NM_016049.3:c.224G>T, NM_016049.3:c.224G>C, NM_001346874.2:c.-201G>T, NM_001346874.2:c.-201G>C, NM_001346874.1:c.-201G>T, NM_001346874.1:c.-201G>C, NM_001346875.2:c.-174G>T, NM_001346875.2:c.-174G>C, NM_001346875.1:c.-174G>T, NM_001346875.1:c.-174G>C, NM_001346876.2:c.-174G>T, NM_001346876.2:c.-174G>C, NM_001346876.1:c.-174G>T, NM_001346876.1:c.-174G>C, NM_001346877.2:c.-201G>T, NM_001346877.2:c.-201G>C, NM_001346877.1:c.-201G>T, NM_001346877.1:c.-201G>C, XM_047431426.1:c.-1273G>T, XM_047431426.1:c.-1273G>C, XM_047431427.1:c.224G>T, XM_047431427.1:c.224G>C, XP_005267778.1:p.Gly75Val, XP_005267778.1:p.Gly75Ala, NP_057133.2:p.Gly75Val, NP_057133.2:p.Gly75Ala, XP_047287383.1:p.Gly75Val, XP_047287383.1:p.Gly75Ala

Select item 140439017717.

rs1404390177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24139124 (GRCh38)
14:24608333 (GRCh37)
Canonical SPDI:: NC_000014.9:24139123:G:C
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24139124G>C, NW_018654722.1:g.440102G>C, NC_000014.8:g.24608333G>C, XM_005267721.6:c.513C>G, XM_005267721.5:c.513C>G, XM_005267721.4:c.513C>G, XM_005267721.3:c.513C>G, XM_005267721.2:c.513C>G, XM_005267721.1:c.513C>G, NM_016049.4:c.513C>G, NM_016049.3:c.513C>G, NM_001346877.2:c.291C>G, NM_001346877.1:c.291C>G, NM_001346874.2:c.291C>G, NM_001346874.1:c.291C>G, NM_001346875.2:c.291C>G, NM_001346875.1:c.291C>G, NM_001346876.2:c.291C>G, NM_001346876.1:c.291C>G, XM_047431426.1:c.291C>G, XP_005267778.1:p.His171Gln, NP_057133.2:p.His171Gln, NP_001333806.1:p.His97Gln, NP_001333803.1:p.His97Gln, NP_001333804.1:p.His97Gln, NP_001333805.1:p.His97Gln, XP_047287382.1:p.His97Gln

Select item 140012074718.

rs1400120747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:24141269 (GRCh38)
14:24610478 (GRCh37)
Canonical SPDI:: NC_000014.9:24141268:C:T
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0054/24 (ALFA)
HGVS:: NC_000014.9:g.24141269C>T, NW_018654722.1:g.442247C>T, NC_000014.8:g.24610478C>T, XM_005267721.6:c.36G>A, XM_005267721.5:c.36G>A, XM_005267721.4:c.36G>A, XM_005267721.3:c.36G>A, XM_005267721.2:c.36G>A, XM_005267721.1:c.36G>A, NM_016049.4:c.36G>A, NM_016049.3:c.36G>A, NM_001346874.2:c.-389G>A, NM_001346874.1:c.-389G>A, NM_001346875.2:c.-362G>A, NM_001346875.1:c.-362G>A, XM_047431427.1:c.36G>A

Select item 139846381419.

rs1398463814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:24139134 (GRCh38)
14:24608343 (GRCh37)
Canonical SPDI:: NC_000014.9:24139133:G:C
Gene:: PSME1 (Varview), EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.24139134G>C, NW_018654722.1:g.440112G>C, NC_000014.8:g.24608343G>C, XM_005267721.6:c.503C>G, XM_005267721.5:c.503C>G, XM_005267721.4:c.503C>G, XM_005267721.3:c.503C>G, XM_005267721.2:c.503C>G, XM_005267721.1:c.503C>G, NM_016049.4:c.503C>G, NM_016049.3:c.503C>G, NM_001346874.2:c.281C>G, NM_001346874.1:c.281C>G, NM_001346875.2:c.281C>G, NM_001346875.1:c.281C>G, NM_001346877.2:c.281C>G, NM_001346877.1:c.281C>G, NM_001346876.2:c.281C>G, NM_001346876.1:c.281C>G, XM_047431426.1:c.281C>G, XP_005267778.1:p.Ala168Gly, NP_057133.2:p.Ala168Gly, NP_001333803.1:p.Ala94Gly, NP_001333804.1:p.Ala94Gly, NP_001333806.1:p.Ala94Gly, NP_001333805.1:p.Ala94Gly, XP_047287382.1:p.Ala94Gly

Select item 139454236220.

rs1394542362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:24141202 (GRCh38)
14:24610411 (GRCh37)
Canonical SPDI:: NC_000014.9:24141201:G:A
Gene:: EMC9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.24141202G>A, NW_018654722.1:g.442180G>A, NC_000014.8:g.24610411G>A, XM_005267721.6:c.103C>T, XM_005267721.5:c.103C>T, XM_005267721.4:c.103C>T, XM_005267721.3:c.103C>T, XM_005267721.2:c.103C>T, XM_005267721.1:c.103C>T, NM_016049.4:c.103C>T, NM_016049.3:c.103C>T, NM_001346874.2:c.-322C>T, NM_001346874.1:c.-322C>T, NM_001346875.2:c.-295C>T, NM_001346875.1:c.-295C>T, XM_047431427.1:c.103C>T, XP_005267778.1:p.Pro35Ser, NP_057133.2:p.Pro35Ser, XP_047287383.1:p.Pro35Ser

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