SNP Links for Protein (Select 46389560) - SNP

Links from Protein

Items: 1 to 20 of 83

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Select item 14834307461.

rs1483430746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150625752 (GRCh38)
1:150598228 (GRCh37)
Canonical SPDI:: NC_000001.11:150625751:C:T
Gene:: ENSA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150625752C>T, NC_000001.10:g.150598228C>T, NG_029499.1:g.8871G>A, NM_004436.4:c.240G>A, NM_004436.3:c.240G>A, NM_004436.2:c.240G>A, NM_207043.2:c.288G>A, NM_207043.1:c.288G>A, NM_207044.2:c.240G>A, NM_207044.1:c.240G>A, NM_207047.2:c.228G>A, NM_207047.1:c.228G>A, NM_207042.2:c.288G>A, NM_207042.1:c.288G>A, NM_207045.2:c.276G>A, NM_207045.1:c.276G>A, NM_207046.2:c.228G>A, NM_207046.1:c.228G>A

Select item 14828765652.

rs1482876565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150625654 (GRCh38)
1:150598130 (GRCh37)
Canonical SPDI:: NC_000001.11:150625653:C:A
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.150625654C>A, NC_000001.10:g.150598130C>A, NG_029499.1:g.8969G>T, NM_004436.4:c.338G>T, NM_004436.3:c.338G>T, NM_004436.2:c.338G>T, NM_207043.2:c.386G>T, NM_207043.1:c.386G>T, NM_207044.2:c.338G>T, NM_207044.1:c.338G>T, NM_207047.2:c.326G>T, NM_207047.1:c.326G>T, NM_207042.2:c.386G>T, NM_207042.1:c.386G>T, NM_207045.2:c.374G>T, NM_207045.1:c.374G>T, NM_207046.2:c.326G>T, NM_207046.1:c.326G>T, NP_004427.1:p.Ser113Ile, NP_996926.1:p.Ser129Ile, NP_996927.1:p.Ser113Ile, NP_996930.1:p.Ser109Ile, NP_996925.1:p.Ser129Ile, NP_996928.1:p.Ser125Ile, NP_996929.1:p.Ser109Ile

Select item 14822222963.

rs1482222296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:150627573 (GRCh38)
1:150600049 (GRCh37)
Canonical SPDI:: NC_000001.11:150627572:C:A,NC_000001.11:150627572:C:T
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150627573C>A, NC_000001.11:g.150627573C>T, NC_000001.10:g.150600049C>A, NC_000001.10:g.150600049C>T, NG_029499.1:g.7050G>T, NG_029499.1:g.7050G>A, NM_004436.4:c.77G>T, NM_004436.4:c.77G>A, NM_004436.3:c.77G>T, NM_004436.3:c.77G>A, NM_004436.2:c.77G>T, NM_004436.2:c.77G>A, NM_207043.2:c.77G>T, NM_207043.2:c.77G>A, NM_207043.1:c.77G>T, NM_207043.1:c.77G>A, NM_207044.2:c.77G>T, NM_207044.2:c.77G>A, NM_207044.1:c.77G>T, NM_207044.1:c.77G>A, NM_207047.2:c.65G>T, NM_207047.2:c.65G>A, NM_207047.1:c.65G>T, NM_207047.1:c.65G>A, NM_207042.2:c.77G>T, NM_207042.2:c.77G>A, NM_207042.1:c.77G>T, NM_207042.1:c.77G>A, NM_207045.2:c.65G>T, NM_207045.2:c.65G>A, NM_207045.1:c.65G>T, NM_207045.1:c.65G>A, NM_207046.2:c.65G>T, NM_207046.2:c.65G>A, NM_207046.1:c.65G>T, NM_207046.1:c.65G>A, NM_207168.2:c.77G>T, NM_207168.2:c.77G>A, NM_207168.1:c.77G>T, NM_207168.1:c.77G>A, NP_004427.1:p.Gly26Val, NP_004427.1:p.Gly26Asp, NP_996926.1:p.Gly26Val, NP_996926.1:p.Gly26Asp, NP_996927.1:p.Gly26Val, NP_996927.1:p.Gly26Asp, NP_996930.1:p.Gly22Val, NP_996930.1:p.Gly22Asp, NP_996925.1:p.Gly26Val, NP_996925.1:p.Gly26Asp, NP_996928.1:p.Gly22Val, NP_996928.1:p.Gly22Asp, NP_996929.1:p.Gly22Val, NP_996929.1:p.Gly22Asp, NP_997051.1:p.Gly26Val, NP_997051.1:p.Gly26Asp

Select item 14691527144.

rs1469152714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150625723 (GRCh38)
1:150598199 (GRCh37)
Canonical SPDI:: NC_000001.11:150625722:T:C
Gene:: ENSA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000001.11:g.150625723T>C, NC_000001.10:g.150598199T>C, NG_029499.1:g.8900A>G, NM_004436.4:c.269A>G, NM_004436.3:c.269A>G, NM_004436.2:c.269A>G, NM_207043.2:c.317A>G, NM_207043.1:c.317A>G, NM_207044.2:c.269A>G, NM_207044.1:c.269A>G, NM_207047.2:c.257A>G, NM_207047.1:c.257A>G, NM_207042.2:c.317A>G, NM_207042.1:c.317A>G, NM_207045.2:c.305A>G, NM_207045.1:c.305A>G, NM_207046.2:c.257A>G, NM_207046.1:c.257A>G, NP_004427.1:p.Asn90Ser, NP_996926.1:p.Asn106Ser, NP_996927.1:p.Asn90Ser, NP_996930.1:p.Asn86Ser, NP_996925.1:p.Asn106Ser, NP_996928.1:p.Asn102Ser, NP_996929.1:p.Asn86Ser

Select item 14649804345.

rs1464980434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150625680 (GRCh38)
1:150598156 (GRCh37)
Canonical SPDI:: NC_000001.11:150625679:G:A
Gene:: ENSA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150625680G>A, NC_000001.10:g.150598156G>A, NG_029499.1:g.8943C>T, NM_004436.4:c.312C>T, NM_004436.3:c.312C>T, NM_004436.2:c.312C>T, NM_207043.2:c.360C>T, NM_207043.1:c.360C>T, NM_207044.2:c.312C>T, NM_207044.1:c.312C>T, NM_207047.2:c.300C>T, NM_207047.1:c.300C>T, NM_207042.2:c.360C>T, NM_207042.1:c.360C>T, NM_207045.2:c.348C>T, NM_207045.1:c.348C>T, NM_207046.2:c.300C>T, NM_207046.1:c.300C>T

Select item 14573624716.

rs1457362471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:150625696 (GRCh38)
1:150598172 (GRCh37)
Canonical SPDI:: NC_000001.11:150625695:G:T
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000001.11:g.150625696G>T, NC_000001.10:g.150598172G>T, NG_029499.1:g.8927C>A, NM_004436.4:c.296C>A, NM_004436.3:c.296C>A, NM_004436.2:c.296C>A, NM_207043.2:c.344C>A, NM_207043.1:c.344C>A, NM_207044.2:c.296C>A, NM_207044.1:c.296C>A, NM_207047.2:c.284C>A, NM_207047.1:c.284C>A, NM_207042.2:c.344C>A, NM_207042.1:c.344C>A, NM_207045.2:c.332C>A, NM_207045.1:c.332C>A, NM_207046.2:c.284C>A, NM_207046.1:c.284C>A, NP_004427.1:p.Thr99Asn, NP_996926.1:p.Thr115Asn, NP_996927.1:p.Thr99Asn, NP_996930.1:p.Thr95Asn, NP_996925.1:p.Thr115Asn, NP_996928.1:p.Thr111Asn, NP_996929.1:p.Thr95Asn

Select item 14394799587.

rs1439479958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:150627518 (GRCh38)
1:150599994 (GRCh37)
Canonical SPDI:: NC_000001.11:150627517:T:A,NC_000001.11:150627517:T:C
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.150627518T>A, NC_000001.11:g.150627518T>C, NC_000001.10:g.150599994T>A, NC_000001.10:g.150599994T>C, NG_029499.1:g.7105A>T, NG_029499.1:g.7105A>G, NM_004436.4:c.132A>T, NM_004436.4:c.132A>G, NM_004436.3:c.132A>T, NM_004436.3:c.132A>G, NM_004436.2:c.132A>T, NM_004436.2:c.132A>G, NM_207043.2:c.132A>T, NM_207043.2:c.132A>G, NM_207043.1:c.132A>T, NM_207043.1:c.132A>G, NM_207044.2:c.132A>T, NM_207044.2:c.132A>G, NM_207044.1:c.132A>T, NM_207044.1:c.132A>G, NM_207047.2:c.120A>T, NM_207047.2:c.120A>G, NM_207047.1:c.120A>T, NM_207047.1:c.120A>G, NM_207042.2:c.132A>T, NM_207042.2:c.132A>G, NM_207042.1:c.132A>T, NM_207042.1:c.132A>G, NM_207045.2:c.120A>T, NM_207045.2:c.120A>G, NM_207045.1:c.120A>T, NM_207045.1:c.120A>G, NM_207046.2:c.120A>T, NM_207046.2:c.120A>G, NM_207046.1:c.120A>T, NM_207046.1:c.120A>G, NM_207168.2:c.132A>T, NM_207168.2:c.132A>G, NM_207168.1:c.132A>T, NM_207168.1:c.132A>G

Select item 13803271538.

rs1380327153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150625685 (GRCh38)
1:150598161 (GRCh37)
Canonical SPDI:: NC_000001.11:150625684:G:C
Gene:: ENSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150625685G>C, NC_000001.10:g.150598161G>C, NG_029499.1:g.8938C>G, NM_004436.4:c.307C>G, NM_004436.3:c.307C>G, NM_004436.2:c.307C>G, NM_207043.2:c.355C>G, NM_207043.1:c.355C>G, NM_207044.2:c.307C>G, NM_207044.1:c.307C>G, NM_207047.2:c.295C>G, NM_207047.1:c.295C>G, NM_207042.2:c.355C>G, NM_207042.1:c.355C>G, NM_207045.2:c.343C>G, NM_207045.1:c.343C>G, NM_207046.2:c.295C>G, NM_207046.1:c.295C>G, NP_004427.1:p.Leu103Val, NP_996926.1:p.Leu119Val, NP_996927.1:p.Leu103Val, NP_996930.1:p.Leu99Val, NP_996925.1:p.Leu119Val, NP_996928.1:p.Leu115Val, NP_996929.1:p.Leu99Val

Select item 13455065729.

rs1345506572 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGTAC>- [Show Flanks]
Chromosome:: 1:150625797 (GRCh38)
1:150598273 (GRCh37)
Canonical SPDI:: NC_000001.11:150625795:CAAAGTAC:C
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150625797_150625803del, NC_000001.10:g.150598273_150598279del, NG_029499.1:g.8821_8827del, NM_004436.4:c.190_196del, NM_004436.3:c.190_196del, NM_004436.2:c.190_196del, NM_207043.2:c.238_244del, NM_207043.1:c.238_244del, NM_207044.2:c.190_196del, NM_207044.1:c.190_196del, NM_207047.2:c.178_184del, NM_207047.1:c.178_184del, NM_207042.2:c.238_244del, NM_207042.1:c.238_244del, NM_207045.2:c.226_232del, NM_207045.1:c.226_232del, NM_207046.2:c.178_184del, NM_207046.1:c.178_184del, NP_004427.1:p.Tyr64fs, NP_996926.1:p.Tyr80fs, NP_996927.1:p.Tyr64fs, NP_996930.1:p.Tyr60fs, NP_996925.1:p.Tyr80fs, NP_996928.1:p.Tyr76fs, NP_996929.1:p.Tyr60fs

Select item 134287533710.

rs1342875337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:150629080 (GRCh38)
1:150601556 (GRCh37)
Canonical SPDI:: NC_000001.11:150629079:A:T
Gene:: ENSA (Varview), LOC112268239 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_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_000001.11:g.150629080A>T, NC_000001.10:g.150601556A>T, NG_029499.1:g.5543T>A, NM_207047.2:c.26T>A, NM_207047.1:c.26T>A, NM_207045.2:c.26T>A, NM_207045.1:c.26T>A, NM_207046.2:c.26T>A, NM_207046.1:c.26T>A, NP_996930.1:p.Val9Glu, NP_996928.1:p.Val9Glu, NP_996929.1:p.Val9Glu

Select item 133714072911.

rs1337140729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150627490 (GRCh38)
1:150599966 (GRCh37)
Canonical SPDI:: NC_000001.11:150627489:G:A
Gene:: ENSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150627490G>A, NC_000001.10:g.150599966G>A, NG_029499.1:g.7133C>T, NM_004436.4:c.160C>T, NM_004436.3:c.160C>T, NM_004436.2:c.160C>T, NM_207043.2:c.160C>T, NM_207043.1:c.160C>T, NM_207044.2:c.160C>T, NM_207044.1:c.160C>T, NM_207047.2:c.148C>T, NM_207047.1:c.148C>T, NM_207042.2:c.160C>T, NM_207042.1:c.160C>T, NM_207045.2:c.148C>T, NM_207045.1:c.148C>T, NM_207046.2:c.148C>T, NM_207046.1:c.148C>T, NM_207168.2:c.160C>T, NM_207168.1:c.160C>T, NP_004427.1:p.Leu54Phe, NP_996926.1:p.Leu54Phe, NP_996927.1:p.Leu54Phe, NP_996930.1:p.Leu50Phe, NP_996925.1:p.Leu54Phe, NP_996928.1:p.Leu50Phe, NP_996929.1:p.Leu50Phe, NP_997051.1:p.Leu54Phe

Select item 130937076512.

rs1309370765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:150627504 (GRCh38)
1:150599980 (GRCh37)
Canonical SPDI:: NC_000001.11:150627503:C:G,NC_000001.11:150627503:C:T
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150627504C>G, NC_000001.11:g.150627504C>T, NC_000001.10:g.150599980C>G, NC_000001.10:g.150599980C>T, NG_029499.1:g.7119G>C, NG_029499.1:g.7119G>A, NM_004436.4:c.146G>C, NM_004436.4:c.146G>A, NM_004436.3:c.146G>C, NM_004436.3:c.146G>A, NM_004436.2:c.146G>C, NM_004436.2:c.146G>A, NM_207043.2:c.146G>C, NM_207043.2:c.146G>A, NM_207043.1:c.146G>C, NM_207043.1:c.146G>A, NM_207044.2:c.146G>C, NM_207044.2:c.146G>A, NM_207044.1:c.146G>C, NM_207044.1:c.146G>A, NM_207047.2:c.134G>C, NM_207047.2:c.134G>A, NM_207047.1:c.134G>C, NM_207047.1:c.134G>A, NM_207042.2:c.146G>C, NM_207042.2:c.146G>A, NM_207042.1:c.146G>C, NM_207042.1:c.146G>A, NM_207045.2:c.134G>C, NM_207045.2:c.134G>A, NM_207045.1:c.134G>C, NM_207045.1:c.134G>A, NM_207046.2:c.134G>C, NM_207046.2:c.134G>A, NM_207046.1:c.134G>C, NM_207046.1:c.134G>A, NM_207168.2:c.146G>C, NM_207168.2:c.146G>A, NM_207168.1:c.146G>C, NM_207168.1:c.146G>A, NP_004427.1:p.Gly49Ala, NP_004427.1:p.Gly49Glu, NP_996926.1:p.Gly49Ala, NP_996926.1:p.Gly49Glu, NP_996927.1:p.Gly49Ala, NP_996927.1:p.Gly49Glu, NP_996930.1:p.Gly45Ala, NP_996930.1:p.Gly45Glu, NP_996925.1:p.Gly49Ala, NP_996925.1:p.Gly49Glu, NP_996928.1:p.Gly45Ala, NP_996928.1:p.Gly45Glu, NP_996929.1:p.Gly45Ala, NP_996929.1:p.Gly45Glu, NP_997051.1:p.Gly49Ala, NP_997051.1:p.Gly49Glu

Select item 130551726413.

rs1305517264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150625805 (GRCh38)
1:150598281 (GRCh37)
Canonical SPDI:: NC_000001.11:150625804:T:C
Gene:: ENSA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150625805T>C, NC_000001.10:g.150598281T>C, NG_029499.1:g.8818A>G, NM_004436.4:c.187A>G, NM_004436.3:c.187A>G, NM_004436.2:c.187A>G, NM_207043.2:c.235A>G, NM_207043.1:c.235A>G, NM_207044.2:c.187A>G, NM_207044.1:c.187A>G, NM_207047.2:c.175A>G, NM_207047.1:c.175A>G, NM_207042.2:c.235A>G, NM_207042.1:c.235A>G, NM_207045.2:c.223A>G, NM_207045.1:c.223A>G, NM_207046.2:c.175A>G, NM_207046.1:c.175A>G, NP_004427.1:p.Lys63Glu, NP_996926.1:p.Lys79Glu, NP_996927.1:p.Lys63Glu, NP_996930.1:p.Lys59Glu, NP_996925.1:p.Lys79Glu, NP_996928.1:p.Lys75Glu, NP_996929.1:p.Lys59Glu

Select item 128664323114.

rs1286643231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150625688 (GRCh38)
1:150598164 (GRCh37)
Canonical SPDI:: NC_000001.11:150625687:C:T
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150625688C>T, NC_000001.10:g.150598164C>T, NG_029499.1:g.8935G>A, NM_004436.4:c.304G>A, NM_004436.3:c.304G>A, NM_004436.2:c.304G>A, NM_207043.2:c.352G>A, NM_207043.1:c.352G>A, NM_207044.2:c.304G>A, NM_207044.1:c.304G>A, NM_207047.2:c.292G>A, NM_207047.1:c.292G>A, NM_207042.2:c.352G>A, NM_207042.1:c.352G>A, NM_207045.2:c.340G>A, NM_207045.1:c.340G>A, NM_207046.2:c.292G>A, NM_207046.1:c.292G>A, NP_004427.1:p.Asp102Asn, NP_996926.1:p.Asp118Asn, NP_996927.1:p.Asp102Asn, NP_996930.1:p.Asp98Asn, NP_996925.1:p.Asp118Asn, NP_996928.1:p.Asp114Asn, NP_996929.1:p.Asp98Asn

Select item 127821811315.

rs1278218113 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:150625792 (GRCh38)
1:150598269 (GRCh37)
Canonical SPDI:: NC_000001.11:150625792::T
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_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_000001.11:g.150625792_150625793insT, NC_000001.10:g.150598268_150598269insT, NG_029499.1:g.8830_8831insA, NM_004436.4:c.199_200insA, NM_004436.3:c.199_200insA, NM_004436.2:c.199_200insA, NM_207043.2:c.247_248insA, NM_207043.1:c.247_248insA, NM_207044.2:c.199_200insA, NM_207044.1:c.199_200insA, NM_207047.2:c.187_188insA, NM_207047.1:c.187_188insA, NM_207042.2:c.247_248insA, NM_207042.1:c.247_248insA, NM_207045.2:c.235_236insA, NM_207045.1:c.235_236insA, NM_207046.2:c.187_188insA, NM_207046.1:c.187_188insA, NP_004427.1:p.Ser67fs, NP_996926.1:p.Ser83fs, NP_996927.1:p.Ser67fs, NP_996930.1:p.Ser63fs, NP_996925.1:p.Ser83fs, NP_996928.1:p.Ser79fs, NP_996929.1:p.Ser63fs

Select item 127523896016.

rs1275238960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150627470 (GRCh38)
1:150599946 (GRCh37)
Canonical SPDI:: NC_000001.11:150627469:T:C
Gene:: ENSA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150627470T>C, NC_000001.10:g.150599946T>C, NG_029499.1:g.7153A>G, NM_004436.4:c.180A>G, NM_004436.3:c.180A>G, NM_004436.2:c.180A>G, NM_207043.2:c.180A>G, NM_207043.1:c.180A>G, NM_207044.2:c.180A>G, NM_207044.1:c.180A>G, NM_207047.2:c.168A>G, NM_207047.1:c.168A>G, NM_207042.2:c.180A>G, NM_207042.1:c.180A>G, NM_207045.2:c.168A>G, NM_207045.1:c.168A>G, NM_207046.2:c.168A>G, NM_207046.1:c.168A>G, NM_207168.2:c.180A>G, NM_207168.1:c.180A>G

Select item 127468285717.

rs1274682857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:150625720 (GRCh38)
1:150598196 (GRCh37)
Canonical SPDI:: NC_000001.11:150625719:A:T
Gene:: ENSA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150625720A>T, NC_000001.10:g.150598196A>T, NG_029499.1:g.8903T>A, NM_004436.4:c.272T>A, NM_004436.3:c.272T>A, NM_004436.2:c.272T>A, NM_207043.2:c.320T>A, NM_207043.1:c.320T>A, NM_207044.2:c.272T>A, NM_207044.1:c.272T>A, NM_207047.2:c.260T>A, NM_207047.1:c.260T>A, NM_207042.2:c.320T>A, NM_207042.1:c.320T>A, NM_207045.2:c.308T>A, NM_207045.1:c.308T>A, NM_207046.2:c.260T>A, NM_207046.1:c.260T>A, NP_004427.1:p.Leu91Gln, NP_996926.1:p.Leu107Gln, NP_996927.1:p.Leu91Gln, NP_996930.1:p.Leu87Gln, NP_996925.1:p.Leu107Gln, NP_996928.1:p.Leu103Gln, NP_996929.1:p.Leu87Gln

Select item 127432371418.

rs1274323714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150627558 (GRCh38)
1:150600034 (GRCh37)
Canonical SPDI:: NC_000001.11:150627557:C:G
Gene:: ENSA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150627558C>G, NC_000001.10:g.150600034C>G, NG_029499.1:g.7065G>C, NM_004436.4:c.92G>C, NM_004436.3:c.92G>C, NM_004436.2:c.92G>C, NM_207043.2:c.92G>C, NM_207043.1:c.92G>C, NM_207044.2:c.92G>C, NM_207044.1:c.92G>C, NM_207047.2:c.80G>C, NM_207047.1:c.80G>C, NM_207042.2:c.92G>C, NM_207042.1:c.92G>C, NM_207045.2:c.80G>C, NM_207045.1:c.80G>C, NM_207046.2:c.80G>C, NM_207046.1:c.80G>C, NM_207168.2:c.92G>C, NM_207168.1:c.92G>C, NP_004427.1:p.Arg31Thr, NP_996926.1:p.Arg31Thr, NP_996927.1:p.Arg31Thr, NP_996930.1:p.Arg27Thr, NP_996925.1:p.Arg31Thr, NP_996928.1:p.Arg27Thr, NP_996929.1:p.Arg27Thr, NP_997051.1:p.Arg31Thr

Select item 126313589119.

rs1263135891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150627488 (GRCh38)
1:150599964 (GRCh37)
Canonical SPDI:: NC_000001.11:150627487:G:A
Gene:: ENSA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150627488G>A, NC_000001.10:g.150599964G>A, NG_029499.1:g.7135C>T, NM_004436.4:c.162C>T, NM_004436.3:c.162C>T, NM_004436.2:c.162C>T, NM_207043.2:c.162C>T, NM_207043.1:c.162C>T, NM_207044.2:c.162C>T, NM_207044.1:c.162C>T, NM_207047.2:c.150C>T, NM_207047.1:c.150C>T, NM_207042.2:c.162C>T, NM_207042.1:c.162C>T, NM_207045.2:c.150C>T, NM_207045.1:c.150C>T, NM_207046.2:c.150C>T, NM_207046.1:c.150C>T, NM_207168.2:c.162C>T, NM_207168.1:c.162C>T

Select item 126213344820.

rs1262133448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150629074 (GRCh38)
1:150601550 (GRCh37)
Canonical SPDI:: NC_000001.11:150629073:T:C
Gene:: ENSA (Varview), LOC112268239 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.150629074T>C, NC_000001.10:g.150601550T>C, NG_029499.1:g.5549A>G, NM_207047.2:c.32A>G, NM_207047.1:c.32A>G, NM_207045.2:c.32A>G, NM_207045.1:c.32A>G, NM_207046.2:c.32A>G, NM_207046.1:c.32A>G, NP_996930.1:p.Tyr11Cys, NP_996928.1:p.Tyr11Cys, NP_996929.1:p.Tyr11Cys

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